Incidental Mutation 'R0071:Unc5d'
ID |
16965 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Unc5d
|
Ensembl Gene |
ENSMUSG00000063626 |
Gene Name |
unc-5 netrin receptor D |
Synonyms |
D930029E11Rik, Unc5h4 |
MMRRC Submission |
038362-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.322)
|
Stock # |
R0071 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
29136745-29709664 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29209854 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 422
(V422A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147306
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168630]
[ENSMUST00000209401]
[ENSMUST00000210298]
[ENSMUST00000210785]
[ENSMUST00000211448]
|
AlphaFold |
Q8K1S2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000168630
AA Change: V494A
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000128521 Gene: ENSMUSG00000063626 AA Change: V494A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
SCOP:d1cs6a2
|
52 |
146 |
5e-3 |
SMART |
IGc2
|
169 |
236 |
2.66e-8 |
SMART |
TSP1
|
253 |
304 |
2.29e-13 |
SMART |
TSP1
|
309 |
358 |
6.33e-7 |
SMART |
transmembrane domain
|
383 |
405 |
N/A |
INTRINSIC |
Pfam:ZU5
|
545 |
642 |
1.6e-33 |
PFAM |
DEATH
|
850 |
941 |
4.77e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209401
AA Change: V420A
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210298
AA Change: V433A
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210785
AA Change: V476A
PolyPhen 2
Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211448
AA Change: V422A
PolyPhen 2
Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
|
Meta Mutation Damage Score |
0.1233 |
Coding Region Coverage |
- 1x: 88.2%
- 3x: 84.4%
- 10x: 70.8%
- 20x: 43.5%
|
Validation Efficiency |
93% (94/101) |
MGI Phenotype |
PHENOTYPE: Mice exhibit impaired induced growth cone collapse response and accelerated radial migration of cortical neurons. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acrbp |
T |
C |
6: 125,027,915 (GRCm39) |
|
probably benign |
Het |
Amotl1 |
G |
A |
9: 14,460,069 (GRCm39) |
A890V |
probably benign |
Het |
Aox3 |
T |
A |
1: 58,211,050 (GRCm39) |
C931* |
probably null |
Het |
Apob |
T |
A |
12: 8,052,111 (GRCm39) |
V1184E |
probably damaging |
Het |
Bbx |
C |
T |
16: 50,100,755 (GRCm39) |
E47K |
probably benign |
Het |
Bccip |
A |
G |
7: 133,315,960 (GRCm39) |
D72G |
probably damaging |
Het |
Bckdha |
A |
T |
7: 25,329,868 (GRCm39) |
|
probably null |
Het |
Bmerb1 |
A |
G |
16: 13,906,818 (GRCm39) |
D11G |
probably damaging |
Het |
Cald1 |
C |
T |
6: 34,735,069 (GRCm39) |
|
probably benign |
Het |
Cdk11b |
T |
C |
4: 155,733,880 (GRCm39) |
|
probably benign |
Het |
Cebpe |
G |
T |
14: 54,948,061 (GRCm39) |
R261S |
probably damaging |
Het |
Cep95 |
C |
T |
11: 106,681,554 (GRCm39) |
|
probably benign |
Het |
Chi3l1 |
T |
C |
1: 134,113,017 (GRCm39) |
Y150H |
probably benign |
Het |
Chrnd |
T |
C |
1: 87,120,559 (GRCm39) |
|
probably benign |
Het |
Cog2 |
T |
C |
8: 125,275,407 (GRCm39) |
|
probably benign |
Het |
Coro7 |
A |
T |
16: 4,488,391 (GRCm39) |
L93Q |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,460,217 (GRCm39) |
T3525A |
probably benign |
Het |
Fam227b |
T |
A |
2: 125,965,994 (GRCm39) |
N144Y |
probably benign |
Het |
Fhod1 |
A |
T |
8: 106,063,857 (GRCm39) |
|
probably null |
Het |
Folr1 |
A |
G |
7: 101,513,130 (GRCm39) |
|
probably null |
Het |
Glis3 |
C |
T |
19: 28,241,255 (GRCm39) |
|
probably benign |
Het |
Golgb1 |
G |
A |
16: 36,735,865 (GRCm39) |
R1704Q |
probably benign |
Het |
Helz2 |
T |
C |
2: 180,878,200 (GRCm39) |
Y866C |
probably damaging |
Het |
Kcnma1 |
C |
T |
14: 23,576,835 (GRCm39) |
R236H |
probably damaging |
Het |
Lct |
C |
T |
1: 128,219,755 (GRCm39) |
W1631* |
probably null |
Het |
Limk1 |
G |
T |
5: 134,690,245 (GRCm39) |
Q104K |
probably benign |
Het |
Ly75 |
T |
C |
2: 60,152,163 (GRCm39) |
K1130R |
probably benign |
Het |
Mdm1 |
A |
G |
10: 117,982,701 (GRCm39) |
E112G |
probably damaging |
Het |
Myo7a |
A |
T |
7: 97,706,037 (GRCm39) |
Y1836N |
probably damaging |
Het |
Nsun7 |
A |
G |
5: 66,421,388 (GRCm39) |
Y118C |
probably benign |
Het |
Or13a20 |
A |
T |
7: 140,232,170 (GRCm39) |
I93F |
probably benign |
Het |
Or2d36 |
A |
G |
7: 106,746,919 (GRCm39) |
Y132C |
probably damaging |
Het |
Osbpl11 |
T |
C |
16: 33,034,708 (GRCm39) |
|
probably benign |
Het |
Pik3cb |
A |
T |
9: 98,926,918 (GRCm39) |
D886E |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,271,568 (GRCm39) |
Y2995F |
probably benign |
Het |
Raver2 |
C |
T |
4: 100,977,642 (GRCm39) |
|
probably benign |
Het |
Sec22c |
A |
G |
9: 121,521,979 (GRCm39) |
F44L |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Shoc1 |
A |
G |
4: 59,059,643 (GRCm39) |
Y1006H |
possibly damaging |
Het |
Sobp |
A |
G |
10: 43,033,993 (GRCm39) |
L111P |
probably damaging |
Het |
Sparcl1 |
G |
T |
5: 104,233,707 (GRCm39) |
Y547* |
probably null |
Het |
Spata31d1b |
G |
A |
13: 59,863,163 (GRCm39) |
A104T |
probably benign |
Het |
Spsb3 |
A |
G |
17: 25,106,878 (GRCm39) |
D184G |
probably damaging |
Het |
Sptan1 |
A |
T |
2: 29,893,354 (GRCm39) |
K1148* |
probably null |
Het |
Tdrd12 |
A |
G |
7: 35,228,671 (GRCm39) |
V17A |
possibly damaging |
Het |
Tlr9 |
A |
G |
9: 106,100,777 (GRCm39) |
T23A |
probably benign |
Het |
Tra2b |
A |
T |
16: 22,073,151 (GRCm39) |
|
probably benign |
Het |
Tspan15 |
A |
G |
10: 62,038,849 (GRCm39) |
|
probably benign |
Het |
Ttc41 |
A |
G |
10: 86,572,710 (GRCm39) |
N694S |
probably benign |
Het |
Ube3b |
G |
A |
5: 114,557,558 (GRCm39) |
G1014D |
probably damaging |
Het |
Vmn2r80 |
C |
T |
10: 79,007,566 (GRCm39) |
T514I |
possibly damaging |
Het |
|
Other mutations in Unc5d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00093:Unc5d
|
APN |
8 |
29,209,854 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL00687:Unc5d
|
APN |
8 |
29,205,841 (GRCm39) |
splice site |
probably benign |
|
IGL00970:Unc5d
|
APN |
8 |
29,186,456 (GRCm39) |
missense |
probably benign |
0.15 |
IGL01992:Unc5d
|
APN |
8 |
29,142,819 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02024:Unc5d
|
APN |
8 |
29,142,855 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02080:Unc5d
|
APN |
8 |
29,381,316 (GRCm39) |
splice site |
probably null |
|
IGL02902:Unc5d
|
APN |
8 |
29,365,634 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02982:Unc5d
|
APN |
8 |
29,142,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R0071:Unc5d
|
UTSW |
8 |
29,209,854 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0761:Unc5d
|
UTSW |
8 |
29,186,560 (GRCm39) |
splice site |
probably null |
|
R0941:Unc5d
|
UTSW |
8 |
29,249,055 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1086:Unc5d
|
UTSW |
8 |
29,365,658 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1625:Unc5d
|
UTSW |
8 |
29,173,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R1635:Unc5d
|
UTSW |
8 |
29,250,777 (GRCm39) |
missense |
probably benign |
0.14 |
R1682:Unc5d
|
UTSW |
8 |
29,249,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R1698:Unc5d
|
UTSW |
8 |
29,186,506 (GRCm39) |
missense |
probably damaging |
0.99 |
R2015:Unc5d
|
UTSW |
8 |
29,249,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R2132:Unc5d
|
UTSW |
8 |
29,365,557 (GRCm39) |
missense |
possibly damaging |
0.50 |
R2174:Unc5d
|
UTSW |
8 |
29,184,568 (GRCm39) |
missense |
probably damaging |
0.99 |
R2210:Unc5d
|
UTSW |
8 |
29,251,825 (GRCm39) |
missense |
probably damaging |
0.97 |
R3684:Unc5d
|
UTSW |
8 |
29,184,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R3734:Unc5d
|
UTSW |
8 |
29,251,826 (GRCm39) |
missense |
probably benign |
0.02 |
R4093:Unc5d
|
UTSW |
8 |
29,334,865 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4287:Unc5d
|
UTSW |
8 |
29,209,824 (GRCm39) |
missense |
probably benign |
0.00 |
R4888:Unc5d
|
UTSW |
8 |
29,156,927 (GRCm39) |
missense |
probably benign |
0.02 |
R5000:Unc5d
|
UTSW |
8 |
29,205,775 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5060:Unc5d
|
UTSW |
8 |
29,209,723 (GRCm39) |
missense |
probably benign |
0.00 |
R5076:Unc5d
|
UTSW |
8 |
29,184,704 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5696:Unc5d
|
UTSW |
8 |
29,156,870 (GRCm39) |
missense |
probably benign |
0.06 |
R6024:Unc5d
|
UTSW |
8 |
29,365,539 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6077:Unc5d
|
UTSW |
8 |
29,165,335 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6259:Unc5d
|
UTSW |
8 |
29,156,820 (GRCm39) |
missense |
probably benign |
0.00 |
R6387:Unc5d
|
UTSW |
8 |
29,365,554 (GRCm39) |
nonsense |
probably null |
|
R7038:Unc5d
|
UTSW |
8 |
29,205,749 (GRCm39) |
critical splice donor site |
probably null |
|
R7577:Unc5d
|
UTSW |
8 |
29,381,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R7641:Unc5d
|
UTSW |
8 |
29,210,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R8175:Unc5d
|
UTSW |
8 |
29,334,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R8426:Unc5d
|
UTSW |
8 |
29,210,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R8465:Unc5d
|
UTSW |
8 |
29,156,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R8748:Unc5d
|
UTSW |
8 |
29,186,453 (GRCm39) |
missense |
probably benign |
0.15 |
R9228:Unc5d
|
UTSW |
8 |
29,165,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R9234:Unc5d
|
UTSW |
8 |
29,250,877 (GRCm39) |
missense |
probably damaging |
0.98 |
R9257:Unc5d
|
UTSW |
8 |
29,215,174 (GRCm39) |
critical splice donor site |
probably null |
|
R9338:Unc5d
|
UTSW |
8 |
29,709,471 (GRCm39) |
unclassified |
probably benign |
|
R9524:Unc5d
|
UTSW |
8 |
29,365,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R9732:Unc5d
|
UTSW |
8 |
29,381,319 (GRCm39) |
critical splice donor site |
probably null |
|
R9738:Unc5d
|
UTSW |
8 |
29,214,332 (GRCm39) |
missense |
probably benign |
0.07 |
R9742:Unc5d
|
UTSW |
8 |
29,156,792 (GRCm39) |
critical splice donor site |
probably null |
|
R9743:Unc5d
|
UTSW |
8 |
29,209,801 (GRCm39) |
missense |
possibly damaging |
0.84 |
X0058:Unc5d
|
UTSW |
8 |
29,250,758 (GRCm39) |
missense |
probably benign |
0.12 |
X0060:Unc5d
|
UTSW |
8 |
29,184,704 (GRCm39) |
missense |
possibly damaging |
0.88 |
Z1176:Unc5d
|
UTSW |
8 |
29,249,081 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Unc5d
|
UTSW |
8 |
29,381,336 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2013-01-20 |