Incidental Mutation 'R7644:Unc13a'
| ID |
590430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc13a
|
| Ensembl Gene |
ENSMUSG00000034799 |
| Gene Name |
unc-13 homolog A |
| Synonyms |
Munc13-1, 2410078G03Rik |
| MMRRC Submission |
045723-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7644 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
72079356-72124418 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 72087182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 1522
(V1522L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030170]
[ENSMUST00000177517]
|
| AlphaFold |
Q4KUS2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030170
AA Change: V1522L
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000030170
Gene: ENSMUSG00000034799
AA Change: V1522L
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
3 |
94 |
5.23e-10 |
SMART |
|
low complexity region
|
187 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
310 |
N/A |
INTRINSIC |
|
coiled coil region
|
321 |
359 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
430 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
450 |
N/A |
INTRINSIC |
|
PDB:2KDU|B
|
454 |
488 |
3e-16 |
PDB |
|
C1
|
563 |
612 |
3.93e-18 |
SMART |
|
C2
|
686 |
793 |
5.86e-22 |
SMART |
|
DUF1041
|
1002 |
1111 |
1.6e-56 |
SMART |
|
Pfam:Membr_traf_MHD
|
1355 |
1520 |
6.3e-53 |
PFAM |
|
C2
|
1555 |
1661 |
5.03e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175909
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177517
AA Change: V1522L
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000135189
Gene: ENSMUSG00000034799
AA Change: V1522L
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
3 |
94 |
5.23e-10 |
SMART |
|
low complexity region
|
187 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
310 |
N/A |
INTRINSIC |
|
coiled coil region
|
321 |
359 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
430 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
450 |
N/A |
INTRINSIC |
|
PDB:2KDU|B
|
454 |
488 |
3e-16 |
PDB |
|
C1
|
563 |
612 |
3.93e-18 |
SMART |
|
C2
|
686 |
793 |
5.86e-22 |
SMART |
|
DUF1041
|
1002 |
1111 |
1.6e-56 |
SMART |
|
Pfam:Membr_traf_MHD
|
1355 |
1520 |
6.7e-53 |
PFAM |
|
C2
|
1574 |
1680 |
5.03e-12 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (86/86) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous mutant mice do not feed and die within hours of birth and synaptic vesicle maturation is impaired. Mice homozygous for a knock-in allele exhibit slower rate of synaptic vesicle replenishment, aberrant short-term depression and reduced recoveryfrom synaptic depression. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
C |
T |
2: 30,687,966 (GRCm39) |
R209Q |
possibly damaging |
Het |
| Abl2 |
A |
G |
1: 156,443,563 (GRCm39) |
D24G |
probably benign |
Het |
| Adar |
C |
T |
3: 89,652,826 (GRCm39) |
A754V |
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,571,218 (GRCm39) |
V1172I |
possibly damaging |
Het |
| Adgrl2 |
C |
T |
3: 148,544,789 (GRCm39) |
V769M |
probably damaging |
Het |
| Akna |
T |
A |
4: 63,313,634 (GRCm39) |
Q163L |
possibly damaging |
Het |
| Alox15 |
C |
T |
11: 70,236,368 (GRCm39) |
A511T |
probably null |
Het |
| Ano8 |
C |
T |
8: 71,937,474 (GRCm39) |
G90D |
probably damaging |
Het |
| Aqp5 |
G |
A |
15: 99,492,107 (GRCm39) |
R235H |
probably damaging |
Het |
| B3galt4 |
A |
T |
17: 34,169,419 (GRCm39) |
V273E |
probably damaging |
Het |
| Ccdc125 |
C |
T |
13: 100,814,884 (GRCm39) |
|
probably null |
Het |
| Ccdc90b |
A |
G |
7: 92,216,868 (GRCm39) |
R47G |
possibly damaging |
Het |
| Celsr2 |
G |
T |
3: 108,320,806 (GRCm39) |
L669I |
probably damaging |
Het |
| Clasp1 |
T |
G |
1: 118,440,480 (GRCm39) |
|
probably null |
Het |
| Clec4a2 |
C |
T |
6: 123,101,974 (GRCm39) |
P43L |
probably benign |
Het |
| Cntn1 |
T |
C |
15: 92,207,890 (GRCm39) |
I827T |
probably benign |
Het |
| Col9a1 |
G |
T |
1: 24,224,243 (GRCm39) |
V142F |
unknown |
Het |
| Cplane1 |
T |
A |
15: 8,252,611 (GRCm39) |
D1944E |
probably benign |
Het |
| Cts7 |
G |
T |
13: 61,504,782 (GRCm39) |
Y23* |
probably null |
Het |
| Dcdc2a |
T |
A |
13: 25,291,674 (GRCm39) |
Y220N |
probably damaging |
Het |
| Dennd2b |
A |
T |
7: 109,156,000 (GRCm39) |
L250* |
probably null |
Het |
| Dmxl1 |
T |
G |
18: 50,026,619 (GRCm39) |
V1909G |
probably benign |
Het |
| Ehd2 |
G |
A |
7: 15,691,474 (GRCm39) |
P286L |
possibly damaging |
Het |
| Elf3 |
G |
T |
1: 135,184,244 (GRCm39) |
A208E |
possibly damaging |
Het |
| Eml5 |
A |
G |
12: 98,822,203 (GRCm39) |
I775T |
probably benign |
Het |
| Ephb1 |
T |
C |
9: 101,813,393 (GRCm39) |
T791A |
probably damaging |
Het |
| Fanci |
C |
A |
7: 79,094,219 (GRCm39) |
S1105* |
probably null |
Het |
| Fastkd1 |
T |
A |
2: 69,527,184 (GRCm39) |
|
probably null |
Het |
| Fat4 |
A |
G |
3: 39,064,390 (GRCm39) |
E4782G |
possibly damaging |
Het |
| Fnta |
T |
C |
8: 26,503,516 (GRCm39) |
I90V |
probably damaging |
Het |
| Fosl1 |
C |
T |
19: 5,500,332 (GRCm39) |
R84* |
probably null |
Het |
| Gdf2 |
T |
C |
14: 33,666,847 (GRCm39) |
F190L |
probably benign |
Het |
| Gzmn |
T |
A |
14: 56,404,776 (GRCm39) |
Q88L |
probably damaging |
Het |
| Hat1 |
T |
A |
2: 71,240,525 (GRCm39) |
L73Q |
probably damaging |
Het |
| Hdhd2 |
G |
A |
18: 77,031,871 (GRCm39) |
G109E |
possibly damaging |
Het |
| Il22ra1 |
A |
G |
4: 135,460,346 (GRCm39) |
N34S |
probably damaging |
Het |
| Ino80d |
T |
C |
1: 63,097,930 (GRCm39) |
T760A |
probably benign |
Het |
| Itga7 |
A |
G |
10: 128,789,370 (GRCm39) |
D971G |
probably benign |
Het |
| Kdm6b |
T |
C |
11: 69,291,032 (GRCm39) |
N1574S |
unknown |
Het |
| Kel |
T |
C |
6: 41,667,742 (GRCm39) |
E400G |
probably benign |
Het |
| Kif22 |
G |
A |
7: 126,632,134 (GRCm39) |
T350I |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,506,839 (GRCm39) |
N305S |
probably benign |
Het |
| Klk12 |
A |
C |
7: 43,419,134 (GRCm39) |
Q33P |
probably damaging |
Het |
| Klk1b24 |
G |
A |
7: 43,841,304 (GRCm39) |
|
probably null |
Het |
| Krtap31-1 |
T |
A |
11: 99,799,048 (GRCm39) |
C84S |
possibly damaging |
Het |
| Ky |
T |
A |
9: 102,414,972 (GRCm39) |
S295T |
probably benign |
Het |
| Lpin3 |
T |
A |
2: 160,738,690 (GRCm39) |
M214K |
probably benign |
Het |
| Mak |
T |
A |
13: 41,183,586 (GRCm39) |
N565Y |
probably benign |
Het |
| Mphosph6 |
T |
C |
8: 118,528,623 (GRCm39) |
T7A |
probably benign |
Het |
| Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
| Myh11 |
T |
C |
16: 14,039,688 (GRCm39) |
T814A |
|
Het |
| Nmbr |
T |
C |
10: 14,636,433 (GRCm39) |
L134P |
probably damaging |
Het |
| Nup107 |
C |
T |
10: 117,606,375 (GRCm39) |
V456M |
probably damaging |
Het |
| Or56b1b |
A |
G |
7: 108,164,649 (GRCm39) |
S118P |
possibly damaging |
Het |
| Or8g22 |
C |
A |
9: 38,958,638 (GRCm39) |
D26Y |
probably damaging |
Het |
| Pink1 |
A |
T |
4: 138,044,683 (GRCm39) |
H351Q |
probably damaging |
Het |
| Piwil4 |
A |
T |
9: 14,645,711 (GRCm39) |
|
probably null |
Het |
| Pkd1l1 |
C |
A |
11: 8,825,758 (GRCm39) |
V1498F |
|
Het |
| Polb |
A |
G |
8: 23,130,443 (GRCm39) |
I161T |
probably benign |
Het |
| Polg |
A |
T |
7: 79,101,416 (GRCm39) |
L1097Q |
probably damaging |
Het |
| Prelp |
T |
C |
1: 133,842,356 (GRCm39) |
N263S |
probably benign |
Het |
| Pten |
T |
C |
19: 32,789,234 (GRCm39) |
C211R |
probably damaging |
Het |
| Ptprc |
G |
A |
1: 137,995,645 (GRCm39) |
A1012V |
probably benign |
Het |
| Ptprr |
T |
A |
10: 115,884,133 (GRCm39) |
H63Q |
probably benign |
Het |
| Rapsn |
A |
T |
2: 90,872,299 (GRCm39) |
H211L |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,183,929 (GRCm39) |
N1690S |
probably benign |
Het |
| Rpap2 |
A |
G |
5: 107,768,167 (GRCm39) |
E335G |
probably benign |
Het |
| Rspry1 |
T |
A |
8: 95,385,396 (GRCm39) |
S567T |
probably benign |
Het |
| Sf3b1 |
G |
A |
1: 55,036,302 (GRCm39) |
R924* |
probably null |
Het |
| Sftpb |
G |
A |
6: 72,286,818 (GRCm39) |
E241K |
probably benign |
Het |
| Smarca4 |
G |
T |
9: 21,566,950 (GRCm39) |
A677S |
probably benign |
Het |
| Srrm2 |
G |
A |
17: 24,038,294 (GRCm39) |
R1646Q |
unknown |
Het |
| Tex15 |
T |
A |
8: 34,064,445 (GRCm39) |
C1292S |
probably benign |
Het |
| Tmem140 |
A |
G |
6: 34,849,708 (GRCm39) |
I75V |
probably benign |
Het |
| Trhr2 |
T |
A |
8: 123,084,061 (GRCm39) |
Q313L |
possibly damaging |
Het |
| Trim35 |
A |
G |
14: 66,534,546 (GRCm39) |
T10A |
unknown |
Het |
| Ttn |
T |
C |
2: 76,750,124 (GRCm39) |
I3642V |
probably benign |
Het |
| Ugt1a2 |
T |
C |
1: 88,128,507 (GRCm39) |
L50P |
probably damaging |
Het |
| Usp33 |
A |
G |
3: 152,063,589 (GRCm39) |
D21G |
possibly damaging |
Het |
| Vmn1r90 |
G |
A |
7: 14,295,616 (GRCm39) |
Q161* |
probably null |
Het |
| Vmn2r117 |
A |
T |
17: 23,696,265 (GRCm39) |
W381R |
probably damaging |
Het |
| Vmn2r16 |
G |
C |
5: 109,487,837 (GRCm39) |
A237P |
probably damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,606,746 (GRCm39) |
V200A |
probably benign |
Het |
| Yjefn3 |
C |
T |
8: 70,340,544 (GRCm39) |
V227M |
probably damaging |
Het |
| Zfp652 |
T |
C |
11: 95,640,914 (GRCm39) |
F280L |
probably damaging |
Het |
| Zfp748 |
G |
A |
13: 67,689,568 (GRCm39) |
T564I |
probably damaging |
Het |
|
| Other mutations in Unc13a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00656:Unc13a
|
APN |
8 |
72,095,791 (GRCm39) |
missense |
probably null |
0.70 |
|
IGL01023:Unc13a
|
APN |
8 |
72,114,469 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01456:Unc13a
|
APN |
8 |
72,097,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01820:Unc13a
|
APN |
8 |
72,107,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01909:Unc13a
|
APN |
8 |
72,091,854 (GRCm39) |
splice site |
probably benign |
|
|
IGL01925:Unc13a
|
APN |
8 |
72,087,187 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02407:Unc13a
|
APN |
8 |
72,101,586 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02622:Unc13a
|
APN |
8 |
72,105,158 (GRCm39) |
splice site |
probably null |
|
|
IGL02634:Unc13a
|
APN |
8 |
72,108,345 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02724:Unc13a
|
APN |
8 |
72,108,949 (GRCm39) |
splice site |
probably benign |
|
|
IGL02892:Unc13a
|
APN |
8 |
72,102,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02948:Unc13a
|
APN |
8 |
72,103,193 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03081:Unc13a
|
APN |
8 |
72,102,193 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03372:Unc13a
|
APN |
8 |
72,108,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
curvy
|
UTSW |
8 |
72,083,148 (GRCm39) |
splice site |
probably null |
|
|
Greed
|
UTSW |
8 |
72,107,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
largesse
|
UTSW |
8 |
72,087,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
serpiginous
|
UTSW |
8 |
72,116,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4469001:Unc13a
|
UTSW |
8 |
72,110,958 (GRCm39) |
nonsense |
probably null |
|
|
R0067:Unc13a
|
UTSW |
8 |
72,087,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0067:Unc13a
|
UTSW |
8 |
72,087,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0389:Unc13a
|
UTSW |
8 |
72,110,676 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0457:Unc13a
|
UTSW |
8 |
72,110,645 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0478:Unc13a
|
UTSW |
8 |
72,103,792 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0483:Unc13a
|
UTSW |
8 |
72,097,557 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0609:Unc13a
|
UTSW |
8 |
72,111,111 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0611:Unc13a
|
UTSW |
8 |
72,102,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0730:Unc13a
|
UTSW |
8 |
72,108,929 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0883:Unc13a
|
UTSW |
8 |
72,094,817 (GRCm39) |
nonsense |
probably null |
|
|
R1162:Unc13a
|
UTSW |
8 |
72,100,561 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1185:Unc13a
|
UTSW |
8 |
72,114,477 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1185:Unc13a
|
UTSW |
8 |
72,114,477 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1185:Unc13a
|
UTSW |
8 |
72,114,477 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1196:Unc13a
|
UTSW |
8 |
72,107,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1400:Unc13a
|
UTSW |
8 |
72,103,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1446:Unc13a
|
UTSW |
8 |
72,101,625 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1507:Unc13a
|
UTSW |
8 |
72,110,910 (GRCm39) |
missense |
probably benign |
|
|
R1636:Unc13a
|
UTSW |
8 |
72,106,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Unc13a
|
UTSW |
8 |
72,105,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Unc13a
|
UTSW |
8 |
72,092,412 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2107:Unc13a
|
UTSW |
8 |
72,108,895 (GRCm39) |
splice site |
probably null |
|
|
R2286:Unc13a
|
UTSW |
8 |
72,083,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2334:Unc13a
|
UTSW |
8 |
72,087,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2924:Unc13a
|
UTSW |
8 |
72,097,596 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3177:Unc13a
|
UTSW |
8 |
72,082,339 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3277:Unc13a
|
UTSW |
8 |
72,082,339 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4175:Unc13a
|
UTSW |
8 |
72,120,368 (GRCm39) |
intron |
probably benign |
|
|
R4279:Unc13a
|
UTSW |
8 |
72,119,311 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4629:Unc13a
|
UTSW |
8 |
72,106,097 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4803:Unc13a
|
UTSW |
8 |
72,115,494 (GRCm39) |
splice site |
probably null |
|
|
R4877:Unc13a
|
UTSW |
8 |
72,111,260 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4927:Unc13a
|
UTSW |
8 |
72,107,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4930:Unc13a
|
UTSW |
8 |
72,083,148 (GRCm39) |
splice site |
probably null |
|
|
R4994:Unc13a
|
UTSW |
8 |
72,095,816 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5011:Unc13a
|
UTSW |
8 |
72,094,121 (GRCm39) |
nonsense |
probably null |
|
|
R5252:Unc13a
|
UTSW |
8 |
72,105,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5356:Unc13a
|
UTSW |
8 |
72,115,158 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5458:Unc13a
|
UTSW |
8 |
72,116,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5514:Unc13a
|
UTSW |
8 |
72,095,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5784:Unc13a
|
UTSW |
8 |
72,108,310 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5853:Unc13a
|
UTSW |
8 |
72,107,773 (GRCm39) |
splice site |
probably null |
|
|
R6183:Unc13a
|
UTSW |
8 |
72,097,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6277:Unc13a
|
UTSW |
8 |
72,119,283 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6374:Unc13a
|
UTSW |
8 |
72,094,097 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6392:Unc13a
|
UTSW |
8 |
72,090,453 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6515:Unc13a
|
UTSW |
8 |
72,100,584 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6576:Unc13a
|
UTSW |
8 |
72,106,122 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6943:Unc13a
|
UTSW |
8 |
72,105,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7045:Unc13a
|
UTSW |
8 |
72,111,407 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7062:Unc13a
|
UTSW |
8 |
72,115,881 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7146:Unc13a
|
UTSW |
8 |
72,083,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7260:Unc13a
|
UTSW |
8 |
72,113,229 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7443:Unc13a
|
UTSW |
8 |
72,083,603 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7545:Unc13a
|
UTSW |
8 |
72,094,153 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7780:Unc13a
|
UTSW |
8 |
72,110,979 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7952:Unc13a
|
UTSW |
8 |
72,111,131 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7989:Unc13a
|
UTSW |
8 |
72,104,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8169:Unc13a
|
UTSW |
8 |
72,108,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8503:Unc13a
|
UTSW |
8 |
72,098,405 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8504:Unc13a
|
UTSW |
8 |
72,098,405 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8675:Unc13a
|
UTSW |
8 |
72,098,359 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8929:Unc13a
|
UTSW |
8 |
72,103,835 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8945:Unc13a
|
UTSW |
8 |
72,100,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8979:Unc13a
|
UTSW |
8 |
72,113,125 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9109:Unc13a
|
UTSW |
8 |
72,108,335 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9136:Unc13a
|
UTSW |
8 |
72,104,994 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9235:Unc13a
|
UTSW |
8 |
72,115,912 (GRCm39) |
missense |
probably benign |
|
|
R9298:Unc13a
|
UTSW |
8 |
72,108,335 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9355:Unc13a
|
UTSW |
8 |
72,098,375 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9483:Unc13a
|
UTSW |
8 |
72,103,221 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9647:Unc13a
|
UTSW |
8 |
72,104,882 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9696:Unc13a
|
UTSW |
8 |
72,082,197 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1088:Unc13a
|
UTSW |
8 |
72,107,447 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Unc13a
|
UTSW |
8 |
72,097,516 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGAGTCAGTGAGGTTCC -3'
(R):5'- GTAAATACAGTGGTCCTGGGG -3'
Sequencing Primer
(F):5'- AGGTTCCCTCCAACGGCTG -3'
(R):5'- CAGCTGTGGCCTGGTGAAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation