Incidental Mutation 'R0504:Unc13b'
| ID |
47314 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc13b
|
| Ensembl Gene |
ENSMUSG00000028456 |
| Gene Name |
unc-13 homolog B |
| Synonyms |
Munc13-2, Unc13h2 |
| MMRRC Submission |
038699-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.262)
|
| Stock # |
R0504 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43058953-43264871 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43263559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1594
(S1594P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128608
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079978]
[ENSMUST00000102953]
[ENSMUST00000107937]
[ENSMUST00000107942]
[ENSMUST00000107952]
[ENSMUST00000107953]
[ENSMUST00000207708]
[ENSMUST00000207569]
[ENSMUST00000163653]
[ENSMUST00000136262]
|
| AlphaFold |
Q9Z1N9 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000056010
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079978
AA Change: S1583P
PolyPhen 2
Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000078894
Gene: ENSMUSG00000028456
AA Change: S1583P
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
3 |
94 |
1.2e-9 |
SMART |
|
low complexity region
|
179 |
193 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
333 |
N/A |
INTRINSIC |
|
C1
|
478 |
527 |
4.21e-18 |
SMART |
|
C2
|
601 |
708 |
2.07e-22 |
SMART |
|
DUF1041
|
917 |
1021 |
2.02e-53 |
SMART |
|
Pfam:Membr_traf_MHD
|
1262 |
1404 |
4.8e-60 |
PFAM |
|
C2
|
1438 |
1544 |
7.56e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102953
|
| SMART Domains |
Protein: ENSMUSP00000100018
Gene: ENSMUSG00000028457
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
20 |
49 |
N/A |
INTRINSIC |
|
Blast:CUB
|
55 |
90 |
1e-6 |
BLAST |
|
Pfam:E1-E2_ATPase
|
107 |
305 |
4.7e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107937
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107942
|
| SMART Domains |
Protein: ENSMUSP00000103575
Gene: ENSMUSG00000028457
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhoLip_ATPase_N
|
38 |
104 |
1.8e-26 |
PFAM |
|
Pfam:E1-E2_ATPase
|
103 |
375 |
4.9e-9 |
PFAM |
|
Pfam:HAD
|
413 |
847 |
2e-18 |
PFAM |
|
Pfam:Cation_ATPase
|
495 |
594 |
1e-9 |
PFAM |
|
Pfam:PhoLip_ATPase_C
|
864 |
1118 |
2.6e-77 |
PFAM |
|
low complexity region
|
1171 |
1180 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107952
AA Change: S1595P
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103586
Gene: ENSMUSG00000028456
AA Change: S1595P
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
3 |
94 |
1.2e-9 |
SMART |
|
low complexity region
|
191 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
345 |
N/A |
INTRINSIC |
|
C1
|
490 |
539 |
4.21e-18 |
SMART |
|
C2
|
613 |
720 |
2.07e-22 |
SMART |
|
DUF1041
|
929 |
1033 |
2.02e-53 |
SMART |
|
Pfam:Membr_traf_MHD
|
1274 |
1416 |
4.8e-60 |
PFAM |
|
C2
|
1450 |
1556 |
7.56e-16 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107953
AA Change: S1602P
PolyPhen 2
Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103587
Gene: ENSMUSG00000028456
AA Change: S1602P
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
3 |
94 |
1.2e-9 |
SMART |
|
low complexity region
|
179 |
193 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
333 |
N/A |
INTRINSIC |
|
C1
|
478 |
527 |
4.21e-18 |
SMART |
|
C2
|
601 |
708 |
2.07e-22 |
SMART |
|
DUF1041
|
917 |
1021 |
2.02e-53 |
SMART |
|
Pfam:Membr_traf_MHD
|
1263 |
1403 |
2.3e-56 |
PFAM |
|
C2
|
1457 |
1563 |
7.56e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207708
AA Change: S1975P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207569
AA Change: S4383P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163653
AA Change: S1594P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128608
Gene: ENSMUSG00000028456
AA Change: S1594P
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
3 |
94 |
1.2e-9 |
SMART |
|
low complexity region
|
191 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
345 |
N/A |
INTRINSIC |
|
C1
|
490 |
539 |
4.21e-18 |
SMART |
|
C2
|
613 |
720 |
2.07e-22 |
SMART |
|
DUF1041
|
929 |
1032 |
4.64e-53 |
SMART |
|
Pfam:Membr_traf_MHD
|
1273 |
1415 |
4.8e-60 |
PFAM |
|
C2
|
1449 |
1555 |
7.56e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143653
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136262
|
| Meta Mutation Damage Score |
0.0750 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
99% (145/147) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia increases the levels of diacylglycerol, which has been shown to induce apoptosis in cells transfected with this gene and thus contribute to the renal cell complications of hyperglycemia. Studies in other species also indicate a role for this protein in the priming step of synaptic vesicle exocytosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are grossly phenotypically normal. Mice older than 12 months will exhibit sporadic seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 145 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
A |
G |
4: 103,128,057 (GRCm39) |
|
probably benign |
Het |
| Adamts6 |
T |
C |
13: 104,563,438 (GRCm39) |
|
probably benign |
Het |
| Adamts9 |
T |
A |
6: 92,889,626 (GRCm39) |
Y316F |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,580,433 (GRCm39) |
F374I |
probably damaging |
Het |
| Akr1c19 |
A |
G |
13: 4,286,250 (GRCm39) |
T83A |
possibly damaging |
Het |
| Ankrd36 |
T |
A |
11: 5,579,274 (GRCm39) |
S179R |
probably damaging |
Het |
| Appbp2 |
A |
G |
11: 85,082,513 (GRCm39) |
S573P |
probably benign |
Het |
| Arid4a |
T |
A |
12: 71,093,988 (GRCm39) |
F254I |
probably damaging |
Het |
| Bin3 |
T |
C |
14: 70,361,336 (GRCm39) |
|
probably null |
Het |
| Bmi1 |
T |
C |
2: 18,688,883 (GRCm39) |
|
probably null |
Het |
| Bmper |
G |
T |
9: 23,317,983 (GRCm39) |
C534F |
probably damaging |
Het |
| Bora |
T |
A |
14: 99,299,059 (GRCm39) |
C205* |
probably null |
Het |
| Btnl2 |
A |
G |
17: 34,577,091 (GRCm39) |
E82G |
probably benign |
Het |
| Ccdc8 |
A |
T |
7: 16,729,939 (GRCm39) |
D476V |
unknown |
Het |
| Ccr3 |
C |
A |
9: 123,829,478 (GRCm39) |
T271K |
possibly damaging |
Het |
| Cd276 |
A |
G |
9: 58,447,961 (GRCm39) |
L23P |
possibly damaging |
Het |
| Cd3e |
T |
C |
9: 44,913,552 (GRCm39) |
Q61R |
probably benign |
Het |
| Cep97 |
A |
G |
16: 55,726,142 (GRCm39) |
S582P |
probably benign |
Het |
| Chml |
A |
T |
1: 175,514,748 (GRCm39) |
M391K |
probably damaging |
Het |
| Chst1 |
A |
G |
2: 92,444,169 (GRCm39) |
N214D |
probably benign |
Het |
| Chuk |
T |
C |
19: 44,070,377 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
G |
A |
9: 79,588,750 (GRCm39) |
H1122Y |
possibly damaging |
Het |
| Cpne6 |
A |
G |
14: 55,752,059 (GRCm39) |
K272R |
probably damaging |
Het |
| Cpsf2 |
T |
A |
12: 101,956,262 (GRCm39) |
L355Q |
probably damaging |
Het |
| Cyp2c29 |
T |
A |
19: 39,298,224 (GRCm39) |
D256E |
probably benign |
Het |
| Daglb |
G |
A |
5: 143,479,952 (GRCm39) |
V420I |
probably benign |
Het |
| Ddx42 |
G |
T |
11: 106,138,675 (GRCm39) |
G825C |
probably benign |
Het |
| Dis3 |
T |
C |
14: 99,318,826 (GRCm39) |
|
probably benign |
Het |
| Dkk4 |
C |
T |
8: 23,115,359 (GRCm39) |
R70C |
probably damaging |
Het |
| Dock6 |
G |
T |
9: 21,713,732 (GRCm39) |
Q1933K |
probably damaging |
Het |
| Dpep2 |
T |
G |
8: 106,716,620 (GRCm39) |
Q186H |
probably benign |
Het |
| Dzip3 |
A |
C |
16: 48,780,006 (GRCm39) |
|
probably benign |
Het |
| Egflam |
T |
A |
15: 7,252,239 (GRCm39) |
I853F |
probably damaging |
Het |
| Fastkd5 |
A |
G |
2: 130,457,837 (GRCm39) |
I251T |
probably benign |
Het |
| Fbn2 |
T |
A |
18: 58,172,532 (GRCm39) |
D2091V |
possibly damaging |
Het |
| Fem1al |
T |
C |
11: 29,774,990 (GRCm39) |
I156V |
probably damaging |
Het |
| Fer1l4 |
C |
A |
2: 155,894,115 (GRCm39) |
V63L |
probably benign |
Het |
| Frem1 |
T |
A |
4: 82,830,874 (GRCm39) |
D2062V |
probably benign |
Het |
| Galnt6 |
A |
C |
15: 100,594,538 (GRCm39) |
|
probably benign |
Het |
| Get3 |
A |
C |
8: 85,745,236 (GRCm39) |
V277G |
probably damaging |
Het |
| Gm10972 |
A |
T |
3: 94,550,440 (GRCm39) |
|
probably benign |
Het |
| Gm4846 |
G |
A |
1: 166,319,114 (GRCm39) |
T208I |
probably benign |
Het |
| Gorab |
A |
G |
1: 163,214,174 (GRCm39) |
L252P |
probably damaging |
Het |
| Gtsf2 |
A |
G |
15: 103,352,988 (GRCm39) |
C63R |
probably damaging |
Het |
| Hal |
T |
C |
10: 93,325,036 (GRCm39) |
V15A |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,752,170 (GRCm39) |
|
probably benign |
Het |
| Hormad2 |
A |
T |
11: 4,358,833 (GRCm39) |
H191Q |
possibly damaging |
Het |
| Hspa2 |
A |
T |
12: 76,451,990 (GRCm39) |
D228V |
probably damaging |
Het |
| Igfn1 |
A |
T |
1: 135,896,267 (GRCm39) |
M1433K |
probably benign |
Het |
| Il18 |
A |
G |
9: 50,486,628 (GRCm39) |
D19G |
probably damaging |
Het |
| Il1rl2 |
G |
A |
1: 40,368,216 (GRCm39) |
V129I |
probably benign |
Het |
| Inpp5b |
C |
A |
4: 124,676,201 (GRCm39) |
Y352* |
probably null |
Het |
| Insrr |
A |
T |
3: 87,720,463 (GRCm39) |
M1034L |
possibly damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,061,534 (GRCm39) |
S1296P |
probably damaging |
Het |
| Kdm5b |
G |
T |
1: 134,548,761 (GRCm39) |
|
probably null |
Het |
| Krba1 |
C |
T |
6: 48,393,188 (GRCm39) |
T998I |
probably benign |
Het |
| L3mbtl4 |
A |
G |
17: 69,084,907 (GRCm39) |
N606S |
probably benign |
Het |
| Lonrf1 |
T |
A |
8: 36,698,313 (GRCm39) |
N395I |
possibly damaging |
Het |
| Lpp |
A |
G |
16: 24,790,720 (GRCm39) |
D393G |
probably damaging |
Het |
| Lrrc17 |
A |
G |
5: 21,765,528 (GRCm39) |
I3M |
probably benign |
Het |
| Lrrtm4 |
A |
T |
6: 79,999,029 (GRCm39) |
Q147L |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,133,422 (GRCm39) |
M1413V |
probably benign |
Het |
| Mapk8ip2 |
A |
G |
15: 89,340,861 (GRCm39) |
E102G |
possibly damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,698,916 (GRCm39) |
|
probably benign |
Het |
| Mfng |
A |
C |
15: 78,641,514 (GRCm39) |
H294Q |
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,870,524 (GRCm39) |
N4K |
probably benign |
Het |
| Mov10l1 |
T |
A |
15: 88,883,042 (GRCm39) |
V384E |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 113,021,442 (GRCm39) |
|
probably benign |
Het |
| Nlrp1b |
T |
G |
11: 71,073,241 (GRCm39) |
I201L |
probably damaging |
Het |
| Nos2 |
C |
T |
11: 78,830,903 (GRCm39) |
P249L |
probably damaging |
Het |
| Notch4 |
A |
G |
17: 34,794,065 (GRCm39) |
T681A |
probably damaging |
Het |
| Nr1i3 |
C |
T |
1: 171,044,805 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,899,333 (GRCm39) |
|
probably null |
Het |
| Onecut2 |
A |
T |
18: 64,473,820 (GRCm39) |
I124F |
possibly damaging |
Het |
| Or10a49 |
C |
T |
7: 108,468,057 (GRCm39) |
M101I |
possibly damaging |
Het |
| Or2a14 |
A |
T |
6: 43,130,395 (GRCm39) |
H52L |
probably benign |
Het |
| Or2ag1 |
T |
A |
7: 106,313,908 (GRCm39) |
|
probably benign |
Het |
| Or2f2 |
C |
T |
6: 42,767,530 (GRCm39) |
R186* |
probably null |
Het |
| Or2t47 |
C |
A |
11: 58,442,462 (GRCm39) |
C201F |
probably damaging |
Het |
| Or4a75 |
A |
T |
2: 89,448,438 (GRCm39) |
Y33N |
probably damaging |
Het |
| Or4c123 |
C |
T |
2: 89,127,083 (GRCm39) |
C177Y |
probably damaging |
Het |
| Or52u1 |
C |
T |
7: 104,237,682 (GRCm39) |
R224* |
probably null |
Het |
| Or5m12 |
T |
A |
2: 85,735,030 (GRCm39) |
M123L |
possibly damaging |
Het |
| Or8b35 |
A |
G |
9: 37,904,438 (GRCm39) |
T217A |
probably benign |
Het |
| Otol1 |
G |
A |
3: 69,934,937 (GRCm39) |
G310R |
probably damaging |
Het |
| Oxct2b |
T |
A |
4: 123,010,633 (GRCm39) |
S184R |
possibly damaging |
Het |
| Oxct2b |
ACTG |
A |
4: 123,010,705 (GRCm39) |
|
probably benign |
Het |
| P2rx6 |
A |
G |
16: 17,385,291 (GRCm39) |
|
probably benign |
Het |
| Pde4a |
A |
G |
9: 21,115,699 (GRCm39) |
N411S |
probably damaging |
Het |
| Phkb |
A |
T |
8: 86,783,153 (GRCm39) |
D983V |
probably benign |
Het |
| Piezo2 |
G |
A |
18: 63,157,522 (GRCm39) |
T2396I |
probably damaging |
Het |
| Pik3ap1 |
T |
A |
19: 41,275,929 (GRCm39) |
D717V |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,766,465 (GRCm39) |
|
probably benign |
Het |
| Plekhg1 |
A |
G |
10: 3,887,853 (GRCm39) |
I261V |
probably damaging |
Het |
| Ppfia4 |
T |
C |
1: 134,251,851 (GRCm39) |
H441R |
probably damaging |
Het |
| Prpf8 |
T |
A |
11: 75,392,768 (GRCm39) |
|
probably benign |
Het |
| Ptn |
T |
A |
6: 36,718,388 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,649,362 (GRCm39) |
Y255C |
possibly damaging |
Het |
| Ptpn4 |
A |
G |
1: 119,693,645 (GRCm39) |
Y126H |
probably damaging |
Het |
| Ptprc |
T |
C |
1: 138,016,435 (GRCm39) |
N505D |
probably damaging |
Het |
| Ptprs |
T |
A |
17: 56,761,220 (GRCm39) |
I116F |
possibly damaging |
Het |
| Rab1a |
T |
G |
11: 20,173,169 (GRCm39) |
V90G |
probably damaging |
Het |
| Rcor1 |
T |
C |
12: 111,068,102 (GRCm39) |
V267A |
probably benign |
Het |
| Reep4 |
A |
G |
14: 70,784,678 (GRCm39) |
|
probably null |
Het |
| Rere |
T |
A |
4: 150,699,779 (GRCm39) |
|
probably benign |
Het |
| Rin3 |
T |
A |
12: 102,353,823 (GRCm39) |
Y743* |
probably null |
Het |
| Rprm |
A |
G |
2: 53,975,067 (GRCm39) |
S84P |
probably damaging |
Het |
| Sdhaf2 |
C |
T |
19: 10,494,383 (GRCm39) |
E109K |
probably damaging |
Het |
| Sec31b |
G |
T |
19: 44,523,225 (GRCm39) |
Q24K |
probably damaging |
Het |
| Sema5a |
T |
C |
15: 32,574,949 (GRCm39) |
|
probably benign |
Het |
| Sh3pxd2a |
T |
C |
19: 47,256,186 (GRCm39) |
Y844C |
probably damaging |
Het |
| Shmt2 |
A |
C |
10: 127,355,941 (GRCm39) |
N134K |
probably damaging |
Het |
| Slc9a8 |
C |
T |
2: 167,266,125 (GRCm39) |
A34V |
probably benign |
Het |
| Spidr |
A |
C |
16: 15,957,936 (GRCm39) |
S64A |
possibly damaging |
Het |
| Stk10 |
A |
G |
11: 32,567,882 (GRCm39) |
T895A |
probably benign |
Het |
| Syne2 |
A |
T |
12: 76,080,365 (GRCm39) |
|
probably benign |
Het |
| Szt2 |
T |
C |
4: 118,230,149 (GRCm39) |
|
probably null |
Het |
| Tecpr1 |
A |
T |
5: 144,150,899 (GRCm39) |
V303D |
probably damaging |
Het |
| Tet3 |
A |
G |
6: 83,350,776 (GRCm39) |
Y1048H |
probably damaging |
Het |
| Tfb2m |
A |
G |
1: 179,373,396 (GRCm39) |
C101R |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,554,253 (GRCm39) |
V556A |
probably damaging |
Het |
| Thbs4 |
A |
C |
13: 92,903,692 (GRCm39) |
I441M |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,379,593 (GRCm39) |
Y944N |
probably damaging |
Het |
| Tm9sf3 |
C |
A |
19: 41,236,331 (GRCm39) |
|
probably benign |
Het |
| Tmem145 |
T |
C |
7: 25,010,787 (GRCm39) |
F359S |
probably damaging |
Het |
| Ttc21b |
C |
T |
2: 66,053,142 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,579,880 (GRCm39) |
V23671A |
probably damaging |
Het |
| Txnl4b |
T |
C |
8: 110,298,103 (GRCm39) |
I78T |
probably benign |
Het |
| Ubr4 |
C |
A |
4: 139,133,889 (GRCm39) |
L762I |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,208,149 (GRCm39) |
|
probably null |
Het |
| Ugt1a8 |
C |
T |
1: 88,016,079 (GRCm39) |
P164L |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,278,639 (GRCm39) |
F912I |
probably benign |
Het |
| Vat1l |
T |
C |
8: 114,963,319 (GRCm39) |
|
probably benign |
Het |
| Vmn1r50 |
T |
A |
6: 90,084,863 (GRCm39) |
S203T |
probably damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,296,784 (GRCm39) |
L667Q |
probably damaging |
Het |
| Vmn2r66 |
T |
G |
7: 84,656,023 (GRCm39) |
Q331P |
probably damaging |
Het |
| Wdsub1 |
A |
T |
2: 59,708,669 (GRCm39) |
V68D |
possibly damaging |
Het |
| Wnk2 |
C |
G |
13: 49,238,870 (GRCm39) |
A564P |
possibly damaging |
Het |
| Wnk2 |
T |
A |
13: 49,238,872 (GRCm39) |
K563M |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,468,580 (GRCm39) |
H297L |
probably damaging |
Het |
| Zfp426 |
A |
T |
9: 20,381,327 (GRCm39) |
H539Q |
probably damaging |
Het |
| Zfp488 |
T |
A |
14: 33,692,497 (GRCm39) |
N222I |
probably damaging |
Het |
| Zfp536 |
T |
A |
7: 37,268,243 (GRCm39) |
H391L |
probably damaging |
Het |
| Zp1 |
T |
A |
19: 10,893,571 (GRCm39) |
N31I |
probably damaging |
Het |
|
| Other mutations in Unc13b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Unc13b
|
APN |
4 |
43,240,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00832:Unc13b
|
APN |
4 |
43,258,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01111:Unc13b
|
APN |
4 |
43,096,927 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01115:Unc13b
|
APN |
4 |
43,258,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01137:Unc13b
|
APN |
4 |
43,091,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01637:Unc13b
|
APN |
4 |
43,241,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01789:Unc13b
|
APN |
4 |
43,239,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01792:Unc13b
|
APN |
4 |
43,250,218 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01877:Unc13b
|
APN |
4 |
43,249,583 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01924:Unc13b
|
APN |
4 |
43,239,385 (GRCm39) |
nonsense |
probably null |
|
|
IGL02087:Unc13b
|
APN |
4 |
43,091,270 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02197:Unc13b
|
APN |
4 |
43,165,828 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02504:Unc13b
|
APN |
4 |
43,263,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02659:Unc13b
|
APN |
4 |
43,235,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03031:Unc13b
|
APN |
4 |
43,235,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03036:Unc13b
|
APN |
4 |
43,235,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03209:Unc13b
|
APN |
4 |
43,239,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03352:Unc13b
|
APN |
4 |
43,237,110 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
BB006:Unc13b
|
UTSW |
4 |
43,174,399 (GRCm39) |
missense |
unknown |
|
|
BB016:Unc13b
|
UTSW |
4 |
43,174,399 (GRCm39) |
missense |
unknown |
|
|
G1Funyon:Unc13b
|
UTSW |
4 |
43,263,568 (GRCm39) |
missense |
probably benign |
|
|
P0028:Unc13b
|
UTSW |
4 |
43,256,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4585001:Unc13b
|
UTSW |
4 |
43,091,298 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0019:Unc13b
|
UTSW |
4 |
43,096,990 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0019:Unc13b
|
UTSW |
4 |
43,096,990 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0335:Unc13b
|
UTSW |
4 |
43,236,983 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0631:Unc13b
|
UTSW |
4 |
43,182,849 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0748:Unc13b
|
UTSW |
4 |
43,241,164 (GRCm39) |
splice site |
probably benign |
|
|
R1275:Unc13b
|
UTSW |
4 |
43,235,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1293:Unc13b
|
UTSW |
4 |
43,235,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1434:Unc13b
|
UTSW |
4 |
43,239,385 (GRCm39) |
nonsense |
probably null |
|
|
R1552:Unc13b
|
UTSW |
4 |
43,237,144 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1591:Unc13b
|
UTSW |
4 |
43,244,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1628:Unc13b
|
UTSW |
4 |
43,263,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1740:Unc13b
|
UTSW |
4 |
43,240,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1839:Unc13b
|
UTSW |
4 |
43,258,308 (GRCm39) |
splice site |
probably benign |
|
|
R2045:Unc13b
|
UTSW |
4 |
43,091,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2191:Unc13b
|
UTSW |
4 |
43,245,566 (GRCm39) |
nonsense |
probably null |
|
|
R2259:Unc13b
|
UTSW |
4 |
43,182,780 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2307:Unc13b
|
UTSW |
4 |
43,239,854 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2317:Unc13b
|
UTSW |
4 |
43,245,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2402:Unc13b
|
UTSW |
4 |
43,095,843 (GRCm39) |
missense |
probably benign |
|
|
R2847:Unc13b
|
UTSW |
4 |
43,180,404 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3414:Unc13b
|
UTSW |
4 |
43,234,658 (GRCm39) |
splice site |
probably benign |
|
|
R3436:Unc13b
|
UTSW |
4 |
43,097,028 (GRCm39) |
splice site |
probably benign |
|
|
R3955:Unc13b
|
UTSW |
4 |
43,256,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3957:Unc13b
|
UTSW |
4 |
43,256,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4015:Unc13b
|
UTSW |
4 |
43,237,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4650:Unc13b
|
UTSW |
4 |
43,261,035 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4836:Unc13b
|
UTSW |
4 |
43,237,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5041:Unc13b
|
UTSW |
4 |
43,237,836 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5413:Unc13b
|
UTSW |
4 |
43,257,936 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5994:Unc13b
|
UTSW |
4 |
43,172,596 (GRCm39) |
intron |
probably benign |
|
|
R6015:Unc13b
|
UTSW |
4 |
43,177,995 (GRCm39) |
nonsense |
probably null |
|
|
R6090:Unc13b
|
UTSW |
4 |
43,239,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6242:Unc13b
|
UTSW |
4 |
43,165,800 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6246:Unc13b
|
UTSW |
4 |
43,216,246 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6427:Unc13b
|
UTSW |
4 |
43,176,966 (GRCm39) |
unclassified |
probably benign |
|
|
R6660:Unc13b
|
UTSW |
4 |
43,177,412 (GRCm39) |
unclassified |
probably benign |
|
|
R6670:Unc13b
|
UTSW |
4 |
43,255,562 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6753:Unc13b
|
UTSW |
4 |
43,239,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6858:Unc13b
|
UTSW |
4 |
43,165,828 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6886:Unc13b
|
UTSW |
4 |
43,170,156 (GRCm39) |
intron |
probably benign |
|
|
R6969:Unc13b
|
UTSW |
4 |
43,263,538 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6994:Unc13b
|
UTSW |
4 |
43,173,203 (GRCm39) |
intron |
probably benign |
|
|
R6994:Unc13b
|
UTSW |
4 |
43,171,403 (GRCm39) |
intron |
probably benign |
|
|
R7080:Unc13b
|
UTSW |
4 |
43,171,926 (GRCm39) |
missense |
unknown |
|
|
R7117:Unc13b
|
UTSW |
4 |
43,216,544 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7132:Unc13b
|
UTSW |
4 |
43,215,757 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7181:Unc13b
|
UTSW |
4 |
43,258,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7192:Unc13b
|
UTSW |
4 |
43,258,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7246:Unc13b
|
UTSW |
4 |
43,172,910 (GRCm39) |
missense |
unknown |
|
|
R7342:Unc13b
|
UTSW |
4 |
43,258,703 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7345:Unc13b
|
UTSW |
4 |
43,173,966 (GRCm39) |
missense |
unknown |
|
|
R7355:Unc13b
|
UTSW |
4 |
43,237,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7391:Unc13b
|
UTSW |
4 |
43,216,459 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7419:Unc13b
|
UTSW |
4 |
43,174,023 (GRCm39) |
missense |
unknown |
|
|
R7424:Unc13b
|
UTSW |
4 |
43,172,235 (GRCm39) |
missense |
unknown |
|
|
R7517:Unc13b
|
UTSW |
4 |
43,215,765 (GRCm39) |
missense |
probably benign |
|
|
R7532:Unc13b
|
UTSW |
4 |
43,249,565 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7564:Unc13b
|
UTSW |
4 |
43,091,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7598:Unc13b
|
UTSW |
4 |
43,263,569 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7604:Unc13b
|
UTSW |
4 |
43,256,776 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7604:Unc13b
|
UTSW |
4 |
43,170,102 (GRCm39) |
missense |
unknown |
|
|
R7643:Unc13b
|
UTSW |
4 |
43,216,333 (GRCm39) |
missense |
probably benign |
|
|
R7718:Unc13b
|
UTSW |
4 |
43,173,854 (GRCm39) |
missense |
unknown |
|
|
R7735:Unc13b
|
UTSW |
4 |
43,165,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7756:Unc13b
|
UTSW |
4 |
43,177,312 (GRCm39) |
small deletion |
probably benign |
|
|
R7757:Unc13b
|
UTSW |
4 |
43,177,341 (GRCm39) |
small insertion |
probably benign |
|
|
R7757:Unc13b
|
UTSW |
4 |
43,177,330 (GRCm39) |
small insertion |
probably benign |
|
|
R7757:Unc13b
|
UTSW |
4 |
43,177,312 (GRCm39) |
small deletion |
probably benign |
|
|
R7758:Unc13b
|
UTSW |
4 |
43,177,344 (GRCm39) |
small insertion |
probably benign |
|
|
R7758:Unc13b
|
UTSW |
4 |
43,177,312 (GRCm39) |
small insertion |
probably benign |
|
|
R7781:Unc13b
|
UTSW |
4 |
43,259,546 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7793:Unc13b
|
UTSW |
4 |
43,172,737 (GRCm39) |
missense |
unknown |
|
|
R7858:Unc13b
|
UTSW |
4 |
43,176,285 (GRCm39) |
missense |
unknown |
|
|
R7867:Unc13b
|
UTSW |
4 |
43,232,573 (GRCm39) |
nonsense |
probably null |
|
|
R7897:Unc13b
|
UTSW |
4 |
43,171,860 (GRCm39) |
missense |
unknown |
|
|
R7904:Unc13b
|
UTSW |
4 |
43,217,075 (GRCm39) |
missense |
probably benign |
|
|
R7929:Unc13b
|
UTSW |
4 |
43,174,399 (GRCm39) |
missense |
unknown |
|
|
R7984:Unc13b
|
UTSW |
4 |
43,173,973 (GRCm39) |
missense |
unknown |
|
|
R8069:Unc13b
|
UTSW |
4 |
43,177,597 (GRCm39) |
missense |
unknown |
|
|
R8101:Unc13b
|
UTSW |
4 |
43,239,918 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8246:Unc13b
|
UTSW |
4 |
43,175,954 (GRCm39) |
missense |
unknown |
|
|
R8289:Unc13b
|
UTSW |
4 |
43,172,524 (GRCm39) |
nonsense |
probably null |
|
|
R8301:Unc13b
|
UTSW |
4 |
43,263,568 (GRCm39) |
missense |
probably benign |
|
|
R8397:Unc13b
|
UTSW |
4 |
43,217,290 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8421:Unc13b
|
UTSW |
4 |
43,178,304 (GRCm39) |
missense |
unknown |
|
|
R8738:Unc13b
|
UTSW |
4 |
43,177,564 (GRCm39) |
missense |
unknown |
|
|
R8746:Unc13b
|
UTSW |
4 |
43,176,120 (GRCm39) |
missense |
unknown |
|
|
R8766:Unc13b
|
UTSW |
4 |
43,174,722 (GRCm39) |
missense |
unknown |
|
|
R8825:Unc13b
|
UTSW |
4 |
43,237,683 (GRCm39) |
splice site |
probably benign |
|
|
R8834:Unc13b
|
UTSW |
4 |
43,175,954 (GRCm39) |
missense |
unknown |
|
|
R8862:Unc13b
|
UTSW |
4 |
43,235,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8864:Unc13b
|
UTSW |
4 |
43,174,724 (GRCm39) |
missense |
unknown |
|
|
R8889:Unc13b
|
UTSW |
4 |
43,176,484 (GRCm39) |
missense |
unknown |
|
|
R8892:Unc13b
|
UTSW |
4 |
43,176,484 (GRCm39) |
missense |
unknown |
|
|
R8904:Unc13b
|
UTSW |
4 |
43,178,531 (GRCm39) |
intron |
probably benign |
|
|
R9089:Unc13b
|
UTSW |
4 |
43,095,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9144:Unc13b
|
UTSW |
4 |
43,173,649 (GRCm39) |
missense |
unknown |
|
|
R9149:Unc13b
|
UTSW |
4 |
43,176,186 (GRCm39) |
missense |
unknown |
|
|
R9173:Unc13b
|
UTSW |
4 |
43,177,421 (GRCm39) |
missense |
unknown |
|
|
R9200:Unc13b
|
UTSW |
4 |
43,257,352 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9232:Unc13b
|
UTSW |
4 |
43,240,321 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9269:Unc13b
|
UTSW |
4 |
43,171,955 (GRCm39) |
missense |
unknown |
|
|
R9320:Unc13b
|
UTSW |
4 |
43,171,044 (GRCm39) |
missense |
unknown |
|
|
R9335:Unc13b
|
UTSW |
4 |
43,255,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9335:Unc13b
|
UTSW |
4 |
43,216,123 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9352:Unc13b
|
UTSW |
4 |
43,177,313 (GRCm39) |
nonsense |
probably null |
|
|
R9352:Unc13b
|
UTSW |
4 |
43,177,312 (GRCm39) |
small insertion |
probably benign |
|
|
R9378:Unc13b
|
UTSW |
4 |
43,173,282 (GRCm39) |
missense |
unknown |
|
|
R9382:Unc13b
|
UTSW |
4 |
43,172,512 (GRCm39) |
missense |
unknown |
|
|
R9569:Unc13b
|
UTSW |
4 |
43,177,312 (GRCm39) |
small deletion |
probably benign |
|
|
R9622:Unc13b
|
UTSW |
4 |
43,172,513 (GRCm39) |
missense |
|
|
|
R9687:Unc13b
|
UTSW |
4 |
43,174,920 (GRCm39) |
missense |
unknown |
|
|
R9704:Unc13b
|
UTSW |
4 |
43,237,102 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9721:Unc13b
|
UTSW |
4 |
43,101,869 (GRCm39) |
missense |
probably benign |
|
|
R9753:Unc13b
|
UTSW |
4 |
43,182,842 (GRCm39) |
nonsense |
probably null |
|
|
RF016:Unc13b
|
UTSW |
4 |
43,177,350 (GRCm39) |
small insertion |
probably benign |
|
|
RF016:Unc13b
|
UTSW |
4 |
43,177,347 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:Unc13b
|
UTSW |
4 |
43,177,338 (GRCm39) |
small insertion |
probably benign |
|
|
RF056:Unc13b
|
UTSW |
4 |
43,177,359 (GRCm39) |
small insertion |
probably benign |
|
|
Z1176:Unc13b
|
UTSW |
4 |
43,177,764 (GRCm39) |
missense |
unknown |
|
|
Z1176:Unc13b
|
UTSW |
4 |
43,177,191 (GRCm39) |
missense |
unknown |
|
|
Z1176:Unc13b
|
UTSW |
4 |
43,171,419 (GRCm39) |
missense |
unknown |
|
|
Z1176:Unc13b
|
UTSW |
4 |
43,261,043 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1177:Unc13b
|
UTSW |
4 |
43,173,669 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCCACACCAAAGTGATAAGAAG -3'
(R):5'- AGACATCCTAACTGGGAGAGTCAGC -3'
Sequencing Primer
(F):5'- GAAGGATTACTGCTTTGCCC -3'
(R):5'- GTCAGCCATTTGACTACAAGG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation