Incidental Mutation 'R0745:Unc5a'
ID |
474137 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Unc5a
|
Ensembl Gene |
ENSMUSG00000025876 |
Gene Name |
unc-5 netrin receptor A |
Synonyms |
Unc5h1 |
MMRRC Submission |
038926-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0745 (G1)
|
Quality Score |
107 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
55097224-55153831 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
CTGTGTGTGTGTGTGT to CTGTGTGTGTGTGT
at 55153068 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115531
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026994]
[ENSMUST00000052949]
[ENSMUST00000109994]
[ENSMUST00000123097]
[ENSMUST00000126234]
[ENSMUST00000132309]
[ENSMUST00000137967]
[ENSMUST00000153665]
|
AlphaFold |
Q8K1S4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026994
|
SMART Domains |
Protein: ENSMUSP00000026994 Gene: ENSMUSG00000025876
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
|
SMART Domains |
Protein: ENSMUSP00000105621 Gene: ENSMUSG00000025876
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 null
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
|
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: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.0%
|
Validation Efficiency |
100% (40/40) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12 |
A |
T |
2: 150,675,068 (GRCm39) |
|
probably null |
Het |
Adam17 |
A |
G |
12: 21,382,222 (GRCm39) |
|
probably benign |
Het |
Aldh1l2 |
T |
A |
10: 83,354,494 (GRCm39) |
|
probably null |
Het |
Bltp1 |
A |
G |
3: 36,982,612 (GRCm39) |
Y759C |
probably damaging |
Het |
Brca2 |
A |
T |
5: 150,468,347 (GRCm39) |
|
probably benign |
Het |
Capn13 |
A |
C |
17: 73,658,503 (GRCm39) |
D188E |
probably benign |
Het |
Col14a1 |
A |
T |
15: 55,201,813 (GRCm39) |
T34S |
unknown |
Het |
Col5a2 |
A |
G |
1: 45,446,387 (GRCm39) |
|
probably null |
Het |
Cyp4v3 |
A |
G |
8: 45,761,688 (GRCm39) |
|
probably benign |
Het |
Dlat |
G |
A |
9: 50,565,008 (GRCm39) |
T233M |
probably damaging |
Het |
Eef2 |
C |
T |
10: 81,017,830 (GRCm39) |
P831S |
probably benign |
Het |
Endod1 |
A |
T |
9: 14,268,413 (GRCm39) |
N357K |
possibly damaging |
Het |
Evc |
A |
T |
5: 37,476,403 (GRCm39) |
V205E |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,228,469 (GRCm39) |
L1754P |
probably damaging |
Het |
Gabra6 |
A |
T |
11: 42,207,394 (GRCm39) |
M230K |
probably damaging |
Het |
Hsd3b5 |
A |
G |
3: 98,526,855 (GRCm39) |
V197A |
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,564,696 (GRCm39) |
|
probably null |
Het |
Mthfsd |
A |
T |
8: 121,829,688 (GRCm39) |
L116Q |
probably damaging |
Het |
Mug1 |
A |
G |
6: 121,864,386 (GRCm39) |
T1428A |
probably benign |
Het |
Obscn |
A |
G |
11: 58,973,065 (GRCm39) |
V2312A |
probably benign |
Het |
Or1i2 |
T |
C |
10: 78,447,956 (GRCm39) |
E173G |
probably benign |
Het |
Palld |
G |
A |
8: 62,330,737 (GRCm39) |
R47C |
probably damaging |
Het |
Pds5b |
A |
G |
5: 150,729,136 (GRCm39) |
T1424A |
probably benign |
Het |
Ppp6r2 |
G |
A |
15: 89,149,445 (GRCm39) |
|
probably null |
Het |
Sik3 |
A |
G |
9: 46,109,537 (GRCm39) |
N505S |
probably benign |
Het |
Spin1 |
A |
G |
13: 51,293,551 (GRCm39) |
Y87C |
probably damaging |
Het |
Tcp11 |
T |
C |
17: 28,286,134 (GRCm39) |
I494V |
possibly damaging |
Het |
Tgfa |
G |
A |
6: 86,248,417 (GRCm39) |
E140K |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Trmo |
A |
G |
4: 46,382,104 (GRCm39) |
F338L |
probably damaging |
Het |
Tspan17 |
T |
C |
13: 54,937,487 (GRCm39) |
V27A |
possibly damaging |
Het |
Tut4 |
C |
G |
4: 108,360,152 (GRCm39) |
|
probably benign |
Het |
Uba5 |
A |
G |
9: 103,926,710 (GRCm39) |
|
probably benign |
Het |
Zbbx |
C |
T |
3: 75,062,734 (GRCm39) |
V8I |
probably damaging |
Het |
Zfp451 |
A |
T |
1: 33,809,929 (GRCm39) |
L931* |
probably null |
Het |
Zmym4 |
A |
T |
4: 126,796,496 (GRCm39) |
|
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 |
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 |
|
Predicted Primers |
|
Posted On |
2017-04-14 |