Incidental Mutation 'R4080:Unc5a'
| ID |
316832 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc5a
|
| Ensembl Gene |
ENSMUSG00000025876 |
| Gene Name |
unc-5 netrin receptor A |
| Synonyms |
Unc5h1 |
| MMRRC Submission |
040856-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4080 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
55097224-55153831 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55152294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 786
(T786S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026994]
[ENSMUST00000052949]
[ENSMUST00000109994]
[ENSMUST00000123097]
[ENSMUST00000126234]
[ENSMUST00000132309]
[ENSMUST00000136852]
[ENSMUST00000137967]
[ENSMUST00000153665]
|
| AlphaFold |
Q8K1S4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026994
AA Change: T786S
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000026994
Gene: ENSMUSG00000025876
AA Change: T786S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
SCOP:d1biha1
|
44 |
143 |
1e-4 |
SMART |
|
IG
|
155 |
240 |
1.8e-5 |
SMART |
|
TSP1
|
245 |
296 |
1.25e-14 |
SMART |
|
TSP1
|
301 |
350 |
1.98e-8 |
SMART |
|
transmembrane domain
|
360 |
382 |
N/A |
INTRINSIC |
|
ZU5
|
495 |
598 |
3.68e-58 |
SMART |
|
DEATH
|
805 |
896 |
5.86e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052949
|
| SMART Domains |
Protein: ENSMUSP00000051215
Gene: ENSMUSG00000025877
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hexokinase_1
|
29 |
232 |
3.7e-76 |
PFAM |
|
Pfam:Hexokinase_2
|
234 |
473 |
1.9e-87 |
PFAM |
|
Pfam:Hexokinase_1
|
475 |
674 |
2.2e-77 |
PFAM |
|
Pfam:Hexokinase_2
|
676 |
915 |
2.3e-103 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109994
AA Change: T730S
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105621
Gene: ENSMUSG00000025876
AA Change: T730S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
SCOP:d1biha1
|
44 |
143 |
1e-4 |
SMART |
|
IG
|
155 |
240 |
1.8e-5 |
SMART |
|
TSP1
|
245 |
294 |
1.98e-8 |
SMART |
|
transmembrane domain
|
305 |
327 |
N/A |
INTRINSIC |
|
ZU5
|
439 |
542 |
3.68e-58 |
SMART |
|
DEATH
|
749 |
840 |
5.86e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123097
|
| SMART Domains |
Protein: ENSMUSP00000116717
Gene: ENSMUSG00000025877
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hexokinase_1
|
29 |
232 |
3.3e-77 |
PFAM |
|
Pfam:Hexokinase_2
|
234 |
457 |
6e-74 |
PFAM |
|
Pfam:Hexokinase_1
|
430 |
629 |
3e-78 |
PFAM |
|
Pfam:Hexokinase_2
|
631 |
870 |
1e-104 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126234
|
| SMART Domains |
Protein: ENSMUSP00000123233
Gene: ENSMUSG00000025877
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hexokinase_1
|
31 |
230 |
2.4e-63 |
PFAM |
|
Pfam:Hexokinase_2
|
236 |
470 |
2.9e-62 |
PFAM |
|
Pfam:Hexokinase_1
|
480 |
673 |
2e-69 |
PFAM |
|
Pfam:Hexokinase_2
|
678 |
912 |
1.5e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132309
|
| SMART Domains |
Protein: ENSMUSP00000117254
Gene: ENSMUSG00000025877
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hexokinase_1
|
29 |
164 |
4.1e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136852
|
| SMART Domains |
Protein: ENSMUSP00000116585
Gene: ENSMUSG00000025876
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
|
TSP1
|
20 |
70 |
1.23e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137967
AA Change: T61S
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115531
Gene: ENSMUSG00000025876
AA Change: T61S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3G5B|A
|
1 |
118 |
6e-36 |
PDB |
|
Blast:DEATH
|
80 |
119 |
9e-22 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142906
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153665
|
| SMART Domains |
Protein: ENSMUSP00000115227
Gene: ENSMUSG00000025877
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hexokinase_1
|
1 |
177 |
8.5e-70 |
PFAM |
|
Pfam:Hexokinase_2
|
179 |
418 |
9.4e-88 |
PFAM |
|
Pfam:Hexokinase_1
|
420 |
619 |
1.2e-77 |
PFAM |
|
Pfam:Hexokinase_2
|
621 |
860 |
1.1e-103 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UNC5A belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[supplied by OMIM, Apr 2004]
PHENOTYPE: Homozygous null mice are viable through adulthood but display decreased apoptotic cell death, supernumerary neurons and morphological alterations in the embryonic cervical spinal cord. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,109,497 (GRCm39) |
D324E |
possibly damaging |
Het |
| Adam7 |
T |
C |
14: 68,757,988 (GRCm39) |
T245A |
probably benign |
Het |
| Adgrf3 |
G |
A |
5: 30,402,367 (GRCm39) |
Q554* |
probably null |
Het |
| Aim2 |
T |
C |
1: 173,287,417 (GRCm39) |
|
probably null |
Het |
| Arhgef1 |
G |
T |
7: 24,625,271 (GRCm39) |
D850Y |
probably damaging |
Het |
| Aspm |
C |
A |
1: 139,398,493 (GRCm39) |
Q1024K |
probably damaging |
Het |
| C7 |
T |
C |
15: 5,019,946 (GRCm39) |
S734G |
probably benign |
Het |
| Ccdc158 |
A |
T |
5: 92,771,255 (GRCm39) |
S987T |
probably benign |
Het |
| Chrna2 |
C |
A |
14: 66,380,873 (GRCm39) |
Y47* |
probably null |
Het |
| Chrna2 |
G |
T |
14: 66,380,866 (GRCm39) |
G45V |
probably benign |
Het |
| Clec2g |
C |
A |
6: 128,958,287 (GRCm39) |
Q117K |
probably damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,029,304 (GRCm39) |
S253G |
probably benign |
Het |
| Cttn |
T |
A |
7: 144,011,461 (GRCm39) |
D116V |
probably damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,790,973 (GRCm39) |
V286A |
probably benign |
Het |
| Dcbld2 |
T |
A |
16: 58,285,736 (GRCm39) |
S632T |
probably damaging |
Het |
| Dscam |
A |
T |
16: 96,484,972 (GRCm39) |
N1118K |
probably benign |
Het |
| Eif2a |
C |
T |
3: 58,447,050 (GRCm39) |
T92M |
possibly damaging |
Het |
| Frmpd1 |
T |
A |
4: 45,284,382 (GRCm39) |
C1068S |
probably benign |
Het |
| Fstl1 |
G |
A |
16: 37,642,965 (GRCm39) |
V110I |
probably benign |
Het |
| Gpat2 |
T |
C |
2: 127,275,542 (GRCm39) |
I465T |
probably damaging |
Het |
| Gpr137 |
C |
T |
19: 6,917,791 (GRCm39) |
|
probably benign |
Het |
| Hgsnat |
A |
G |
8: 26,436,371 (GRCm39) |
I561T |
probably benign |
Het |
| Ift74 |
T |
A |
4: 94,541,149 (GRCm39) |
|
probably null |
Het |
| Ilf3 |
A |
G |
9: 21,314,430 (GRCm39) |
|
probably null |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lrrc41 |
C |
A |
4: 115,937,743 (GRCm39) |
|
probably null |
Het |
| Myh11 |
C |
A |
16: 14,041,923 (GRCm39) |
R700L |
possibly damaging |
Het |
| Myo16 |
A |
G |
8: 10,612,240 (GRCm39) |
D1295G |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,873,559 (GRCm39) |
M1488V |
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,435,815 (GRCm39) |
Y903N |
probably damaging |
Het |
| Nek6 |
A |
G |
2: 38,440,649 (GRCm39) |
H19R |
probably damaging |
Het |
| Nktr |
A |
C |
9: 121,570,192 (GRCm39) |
T127P |
probably damaging |
Het |
| Noc4l |
A |
T |
5: 110,797,738 (GRCm39) |
D335E |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,449,622 (GRCm39) |
D1993G |
probably damaging |
Het |
| Or1ad1 |
G |
A |
11: 50,875,683 (GRCm39) |
D52N |
probably damaging |
Het |
| Or5h22 |
A |
T |
16: 58,894,619 (GRCm39) |
F275I |
probably damaging |
Het |
| Pabpc2 |
A |
T |
18: 39,908,583 (GRCm39) |
Q616L |
possibly damaging |
Het |
| Pcdhga4 |
A |
T |
18: 37,818,832 (GRCm39) |
D127V |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,839,633 (GRCm39) |
|
probably benign |
Het |
| Phtf2 |
T |
A |
5: 21,018,294 (GRCm39) |
I16F |
probably damaging |
Het |
| Plekhg3 |
G |
T |
12: 76,624,755 (GRCm39) |
R1200L |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Prorp |
G |
T |
12: 55,351,398 (GRCm39) |
V236F |
possibly damaging |
Het |
| Prss12 |
A |
G |
3: 123,279,134 (GRCm39) |
N404D |
probably benign |
Het |
| Ptch2 |
C |
G |
4: 116,968,403 (GRCm39) |
A926G |
probably damaging |
Het |
| Ptpra |
T |
C |
2: 30,333,317 (GRCm39) |
F6L |
probably damaging |
Het |
| Reck |
T |
C |
4: 43,942,293 (GRCm39) |
I853T |
possibly damaging |
Het |
| Reep6 |
G |
A |
10: 80,165,996 (GRCm39) |
|
probably benign |
Het |
| Rex2 |
T |
A |
4: 147,143,154 (GRCm39) |
S547R |
probably benign |
Het |
| Rgs22 |
C |
T |
15: 36,107,222 (GRCm39) |
E55K |
probably damaging |
Het |
| Rtl6 |
T |
C |
15: 84,441,202 (GRCm39) |
T65A |
possibly damaging |
Het |
| Scarb1 |
G |
T |
5: 125,354,859 (GRCm39) |
P491Q |
probably damaging |
Het |
| Scfd1 |
A |
G |
12: 51,478,302 (GRCm39) |
S505G |
probably benign |
Het |
| Scube1 |
T |
G |
15: 83,492,948 (GRCm39) |
Q904P |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,828,517 (GRCm39) |
Y1186C |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,041,632 (GRCm39) |
D1334G |
probably benign |
Het |
| Spty2d1 |
T |
C |
7: 46,648,329 (GRCm39) |
E200G |
probably damaging |
Het |
| Stard13 |
C |
A |
5: 151,016,294 (GRCm39) |
|
probably null |
Het |
| Sybu |
T |
C |
15: 44,582,339 (GRCm39) |
K95R |
probably damaging |
Het |
| Trappc9 |
T |
A |
15: 72,813,796 (GRCm39) |
D488V |
probably damaging |
Het |
| Txk |
G |
A |
5: 72,858,006 (GRCm39) |
P381S |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 47,299,648 (GRCm39) |
M198K |
probably benign |
Het |
| Unc93b1 |
G |
A |
19: 3,991,959 (GRCm39) |
R231Q |
probably damaging |
Het |
| Wfdc1 |
T |
A |
8: 120,410,532 (GRCm39) |
|
probably null |
Het |
| Zfp667 |
T |
G |
7: 6,308,105 (GRCm39) |
C258G |
possibly damaging |
Het |
| Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
probably benign |
Het |
|
| Other mutations in Unc5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Unc5a
|
APN |
13 |
55,143,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00339:Unc5a
|
APN |
13 |
55,143,628 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL00924:Unc5a
|
APN |
13 |
55,152,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01411:Unc5a
|
APN |
13 |
55,150,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01511:Unc5a
|
APN |
13 |
55,152,629 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02430:Unc5a
|
APN |
13 |
55,150,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02996:Unc5a
|
APN |
13 |
55,143,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03188:Unc5a
|
APN |
13 |
55,147,316 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT1430001:Unc5a
|
UTSW |
13 |
55,151,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4378001:Unc5a
|
UTSW |
13 |
55,143,681 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0009:Unc5a
|
UTSW |
13 |
55,150,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Unc5a
|
UTSW |
13 |
55,150,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0028:Unc5a
|
UTSW |
13 |
55,151,726 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0505:Unc5a
|
UTSW |
13 |
55,152,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0744:Unc5a
|
UTSW |
13 |
55,151,746 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0745:Unc5a
|
UTSW |
13 |
55,153,068 (GRCm39) |
frame shift |
probably null |
|
|
R0836:Unc5a
|
UTSW |
13 |
55,151,746 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1018:Unc5a
|
UTSW |
13 |
55,138,765 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1432:Unc5a
|
UTSW |
13 |
55,152,285 (GRCm39) |
unclassified |
probably benign |
|
|
R1469:Unc5a
|
UTSW |
13 |
55,144,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Unc5a
|
UTSW |
13 |
55,144,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1691:Unc5a
|
UTSW |
13 |
55,150,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Unc5a
|
UTSW |
13 |
55,138,896 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4020:Unc5a
|
UTSW |
13 |
55,151,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4720:Unc5a
|
UTSW |
13 |
55,151,696 (GRCm39) |
missense |
probably null |
1.00 |
|
R4876:Unc5a
|
UTSW |
13 |
55,145,042 (GRCm39) |
missense |
probably benign |
|
|
R4953:Unc5a
|
UTSW |
13 |
55,147,683 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5112:Unc5a
|
UTSW |
13 |
55,151,231 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5593:Unc5a
|
UTSW |
13 |
55,152,747 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5903:Unc5a
|
UTSW |
13 |
55,147,503 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6521:Unc5a
|
UTSW |
13 |
55,152,748 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6723:Unc5a
|
UTSW |
13 |
55,143,702 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7038:Unc5a
|
UTSW |
13 |
55,152,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7065:Unc5a
|
UTSW |
13 |
55,138,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7241:Unc5a
|
UTSW |
13 |
55,138,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:Unc5a
|
UTSW |
13 |
55,144,386 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7487:Unc5a
|
UTSW |
13 |
55,144,362 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7980:Unc5a
|
UTSW |
13 |
55,147,319 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8032:Unc5a
|
UTSW |
13 |
55,144,299 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8087:Unc5a
|
UTSW |
13 |
55,143,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8910:Unc5a
|
UTSW |
13 |
55,151,401 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9126:Unc5a
|
UTSW |
13 |
55,145,774 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9492:Unc5a
|
UTSW |
13 |
55,150,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAGAGCATAGCCATGGATG -3'
(R):5'- CCTGTCCAGGTGAAGTTTCTG -3'
Sequencing Primer
(F):5'- GAGGTGTTCTCCGTCACCAAC -3'
(R):5'- TCTGGGCTAGAGTTCGCCAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation