Incidental Mutation 'IGL03188:Unc5a'
| ID |
412538 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Unc5a
|
| Ensembl Gene |
ENSMUSG00000025876 |
| Gene Name |
unc-5 netrin receptor A |
| Synonyms |
Unc5h1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03188
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
55097224-55153831 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55147316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 106
(S106G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116585
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026994]
[ENSMUST00000109994]
[ENSMUST00000136852]
[ENSMUST00000137967]
|
| AlphaFold |
Q8K1S4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026994
AA Change: S408G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000026994
Gene: ENSMUSG00000025876
AA Change: S408G
| 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: ENSMUST00000109994
AA Change: S352G
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000105621
Gene: ENSMUSG00000025876
AA Change: S352G
| 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 damaging
Transcript: ENSMUST00000136852
AA Change: S106G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116585
Gene: ENSMUSG00000025876
AA Change: S106G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
|
TSP1
|
20 |
70 |
1.23e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137967
|
| SMART Domains |
Protein: ENSMUSP00000115531
Gene: ENSMUSG00000025876
| 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
|
| Coding Region Coverage |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
C |
A |
8: 114,425,656 (GRCm39) |
C1202F |
probably damaging |
Het |
| Ago2 |
C |
T |
15: 72,995,182 (GRCm39) |
V466I |
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aptx |
A |
T |
4: 40,695,143 (GRCm39) |
|
probably null |
Het |
| Aurka |
A |
T |
2: 172,205,688 (GRCm39) |
D123E |
possibly damaging |
Het |
| Btaf1 |
T |
C |
19: 36,926,508 (GRCm39) |
I60T |
possibly damaging |
Het |
| Ccdc154 |
A |
T |
17: 25,383,067 (GRCm39) |
|
probably null |
Het |
| Cct5 |
T |
C |
15: 31,598,148 (GRCm39) |
N55S |
probably benign |
Het |
| Cntnap3 |
A |
G |
13: 64,929,559 (GRCm39) |
S547P |
probably damaging |
Het |
| Efl1 |
T |
A |
7: 82,320,909 (GRCm39) |
I114N |
probably damaging |
Het |
| Gprin1 |
T |
C |
13: 54,886,465 (GRCm39) |
D603G |
probably benign |
Het |
| Il16 |
A |
G |
7: 83,337,371 (GRCm39) |
S115P |
probably benign |
Het |
| Kalrn |
C |
A |
16: 34,134,562 (GRCm39) |
V401L |
probably benign |
Het |
| Kcnq4 |
T |
A |
4: 120,561,623 (GRCm39) |
K482I |
possibly damaging |
Het |
| L3mbtl3 |
C |
T |
10: 26,218,515 (GRCm39) |
A114T |
unknown |
Het |
| Lig1 |
G |
A |
7: 13,045,032 (GRCm39) |
|
probably benign |
Het |
| Lnx1 |
G |
A |
5: 74,780,924 (GRCm39) |
T199M |
probably damaging |
Het |
| Mapk13 |
A |
G |
17: 28,995,557 (GRCm39) |
|
probably benign |
Het |
| Mfsd2b |
A |
T |
12: 4,916,538 (GRCm39) |
|
probably null |
Het |
| Mrpl3 |
A |
G |
9: 104,934,264 (GRCm39) |
D137G |
probably benign |
Het |
| Muc15 |
A |
G |
2: 110,562,044 (GRCm39) |
D160G |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,137,369 (GRCm39) |
|
probably null |
Het |
| Nipa2 |
T |
G |
7: 55,582,680 (GRCm39) |
N355T |
probably benign |
Het |
| Or11h4 |
A |
T |
14: 50,974,315 (GRCm39) |
Y101* |
probably null |
Het |
| Or2v2 |
T |
C |
11: 49,004,536 (GRCm39) |
N6D |
probably damaging |
Het |
| Or51a43 |
A |
G |
7: 103,717,945 (GRCm39) |
S98P |
possibly damaging |
Het |
| Or5p60 |
T |
C |
7: 107,723,841 (GRCm39) |
T210A |
probably benign |
Het |
| Pfkm |
G |
T |
15: 98,021,124 (GRCm39) |
|
probably null |
Het |
| Ppip5k1 |
A |
G |
2: 121,157,327 (GRCm39) |
|
probably benign |
Het |
| Ppp1r18 |
A |
G |
17: 36,178,857 (GRCm39) |
D244G |
possibly damaging |
Het |
| Rimoc1 |
A |
G |
15: 4,018,187 (GRCm39) |
Y163H |
probably damaging |
Het |
| Scn2a |
T |
C |
2: 65,501,997 (GRCm39) |
S107P |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,351,632 (GRCm39) |
I783N |
probably damaging |
Het |
| Snx1 |
A |
G |
9: 66,001,734 (GRCm39) |
W307R |
probably damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,971,225 (GRCm39) |
Y186C |
possibly damaging |
Het |
| Stk11ip |
G |
A |
1: 75,511,079 (GRCm39) |
V928M |
probably benign |
Het |
| Tgm4 |
A |
G |
9: 122,874,101 (GRCm39) |
M114V |
probably null |
Het |
| Trpm2 |
G |
A |
10: 77,754,743 (GRCm39) |
R1248C |
probably benign |
Het |
| Txnrd1 |
T |
C |
10: 82,720,880 (GRCm39) |
I347T |
possibly damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,612 (GRCm39) |
M691V |
probably benign |
Het |
| Zfp58 |
T |
A |
13: 67,639,528 (GRCm39) |
Q321L |
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 |
|
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 |
|
R4080:Unc5a
|
UTSW |
13 |
55,152,294 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation