Incidental Mutation 'R0028:Unc5a'
ID |
18664 |
Institutional Source |
Beutler Lab
|
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 # |
R0028 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
55097224-55153831 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55151726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 50
(S50G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115531
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026994]
[ENSMUST00000052949]
[ENSMUST00000109994]
[ENSMUST00000123097]
[ENSMUST00000126234]
[ENSMUST00000132309]
[ENSMUST00000137967]
[ENSMUST00000136852]
[ENSMUST00000153665]
|
AlphaFold |
Q8K1S4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026994
AA Change: S775G
PolyPhen 2
Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000026994 Gene: ENSMUSG00000025876 AA Change: S775G
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 |
possibly damaging
Transcript: ENSMUST00000109994
AA Change: S719G
PolyPhen 2
Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000105621 Gene: ENSMUSG00000025876 AA Change: S719G
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 |
possibly damaging
Transcript: ENSMUST00000137967
AA Change: S50G
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000115531 Gene: ENSMUSG00000025876 AA Change: S50G
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: 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 |
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 |
|
Meta Mutation Damage Score |
0.0661 |
Coding Region Coverage |
- 1x: 80.7%
- 3x: 72.7%
- 10x: 50.3%
- 20x: 30.1%
|
Validation Efficiency |
96% (74/77) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
C |
17: 24,596,698 (GRCm39) |
F384L |
probably benign |
Het |
AC159748.1 |
T |
C |
10: 5,542,006 (GRCm38) |
|
silent |
Het |
Adamts12 |
C |
T |
15: 11,215,710 (GRCm39) |
R244C |
probably damaging |
Het |
Bms1 |
T |
C |
6: 118,393,480 (GRCm39) |
I131V |
probably benign |
Het |
Ccdc107 |
A |
G |
4: 43,495,549 (GRCm39) |
T151A |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Col4a4 |
A |
G |
1: 82,465,231 (GRCm39) |
|
probably null |
Het |
Creb1 |
A |
G |
1: 64,609,307 (GRCm39) |
D126G |
probably damaging |
Het |
Ddb1 |
T |
A |
19: 10,596,610 (GRCm39) |
V443E |
probably damaging |
Het |
Dnmt3a |
T |
A |
12: 3,950,337 (GRCm39) |
S634T |
probably damaging |
Het |
Fras1 |
A |
C |
5: 96,825,175 (GRCm39) |
N1455T |
probably benign |
Het |
Fyb1 |
A |
G |
15: 6,674,395 (GRCm39) |
|
probably benign |
Het |
Gpr141 |
C |
T |
13: 19,936,599 (GRCm39) |
V59M |
probably damaging |
Het |
Ikbke |
T |
C |
1: 131,199,921 (GRCm39) |
I222V |
possibly damaging |
Het |
Macf1 |
A |
T |
4: 123,275,895 (GRCm39) |
H6222Q |
probably damaging |
Het |
Mapk8ip3 |
C |
T |
17: 25,123,871 (GRCm39) |
|
probably benign |
Het |
Phactr1 |
A |
T |
13: 43,210,655 (GRCm39) |
D74V |
probably damaging |
Het |
Prickle2 |
T |
C |
6: 92,399,323 (GRCm39) |
I185V |
probably benign |
Het |
Rnasel |
A |
T |
1: 153,630,465 (GRCm39) |
D327V |
probably benign |
Het |
Slc25a13 |
T |
C |
6: 6,181,047 (GRCm39) |
N46D |
probably benign |
Het |
Slc28a2 |
T |
A |
2: 122,282,083 (GRCm39) |
F261L |
probably damaging |
Het |
Slc6a15 |
A |
T |
10: 103,252,541 (GRCm39) |
Y568F |
probably benign |
Het |
Slc7a1 |
A |
G |
5: 148,272,321 (GRCm39) |
V452A |
probably benign |
Het |
Tectb |
T |
C |
19: 55,183,109 (GRCm39) |
I330T |
probably benign |
Het |
Tmem92 |
C |
T |
11: 94,669,778 (GRCm39) |
V118I |
possibly damaging |
Het |
Tmf1 |
T |
C |
6: 97,135,059 (GRCm39) |
E985G |
probably damaging |
Het |
Traf5 |
T |
A |
1: 191,758,421 (GRCm39) |
|
probably benign |
Het |
Trip11 |
T |
C |
12: 101,851,016 (GRCm39) |
E731G |
probably damaging |
Het |
Wrnip1 |
T |
C |
13: 33,004,280 (GRCm39) |
L517P |
probably damaging |
Het |
Zfp202 |
T |
A |
9: 40,123,048 (GRCm39) |
H603Q |
probably damaging |
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 |
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 |
2013-03-25 |