Incidental Mutation 'IGL01992:Unc5d'
| ID |
183563 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Unc5d
|
| Ensembl Gene |
ENSMUSG00000063626 |
| Gene Name |
unc-5 netrin receptor D |
| Synonyms |
D930029E11Rik, Unc5h4 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.316)
|
| Stock # |
IGL01992
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
29136745-29709664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29142819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 878
(Y878H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168630]
[ENSMUST00000209401]
[ENSMUST00000210298]
[ENSMUST00000210785]
[ENSMUST00000211448]
|
| AlphaFold |
Q8K1S2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168630
AA Change: Y950H
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128521
Gene: ENSMUSG00000063626
AA Change: Y950H
| 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 damaging
Transcript: ENSMUST00000209401
AA Change: Y876H
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210298
AA Change: Y869H
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210785
AA Change: Y932H
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211448
AA Change: Y878H
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano3 |
A |
G |
2: 110,488,564 (GRCm39) |
M956T |
probably damaging |
Het |
| Ap2b1 |
T |
G |
11: 83,226,356 (GRCm39) |
V289G |
probably damaging |
Het |
| Cacnb4 |
G |
T |
2: 52,355,682 (GRCm39) |
H208Q |
probably damaging |
Het |
| Calhm6 |
A |
T |
10: 34,003,533 (GRCm39) |
C125S |
probably damaging |
Het |
| Cd5l |
G |
A |
3: 87,275,118 (GRCm39) |
R219Q |
probably benign |
Het |
| Dzip1l |
G |
T |
9: 99,545,739 (GRCm39) |
G663W |
probably damaging |
Het |
| Ecel1 |
G |
A |
1: 87,077,577 (GRCm39) |
|
probably benign |
Het |
| Eno1 |
A |
G |
4: 150,323,993 (GRCm39) |
T19A |
probably damaging |
Het |
| Fndc3a |
G |
A |
14: 72,811,996 (GRCm39) |
T315I |
probably benign |
Het |
| Galr1 |
T |
C |
18: 82,411,942 (GRCm39) |
N308S |
probably damaging |
Het |
| Get3 |
G |
A |
8: 85,745,185 (GRCm39) |
A294V |
possibly damaging |
Het |
| Maf |
A |
T |
8: 116,432,702 (GRCm39) |
S301T |
probably damaging |
Het |
| Map3k5 |
C |
T |
10: 19,904,879 (GRCm39) |
R394* |
probably null |
Het |
| Mroh8 |
C |
T |
2: 157,055,616 (GRCm39) |
G994D |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,799,634 (GRCm39) |
V653A |
possibly damaging |
Het |
| Nucks1 |
A |
G |
1: 131,858,828 (GRCm39) |
K196E |
unknown |
Het |
| Nup42 |
T |
C |
5: 24,386,101 (GRCm39) |
V211A |
probably benign |
Het |
| Or4n4 |
C |
A |
14: 50,518,798 (GRCm39) |
R304L |
probably benign |
Het |
| Or7e178 |
A |
T |
9: 20,226,015 (GRCm39) |
I59N |
probably damaging |
Het |
| Or7g32 |
A |
T |
9: 19,408,070 (GRCm39) |
I9F |
probably benign |
Het |
| Piwil1 |
C |
T |
5: 128,824,396 (GRCm39) |
T493I |
probably null |
Het |
| Plcd1 |
T |
C |
9: 118,905,053 (GRCm39) |
H216R |
probably benign |
Het |
| Pmp2 |
A |
T |
3: 10,247,541 (GRCm39) |
Y49* |
probably null |
Het |
| Rnf38 |
A |
G |
4: 44,138,806 (GRCm39) |
V229A |
probably damaging |
Het |
| Saxo2 |
T |
C |
7: 82,284,108 (GRCm39) |
D250G |
probably damaging |
Het |
| Scn8a |
T |
G |
15: 100,866,938 (GRCm39) |
V98G |
probably damaging |
Het |
| Scnn1a |
T |
A |
6: 125,315,900 (GRCm39) |
|
probably null |
Het |
| Sepsecs |
C |
T |
5: 52,801,402 (GRCm39) |
R420Q |
probably benign |
Het |
| Slit2 |
T |
C |
5: 48,395,759 (GRCm39) |
S725P |
probably benign |
Het |
| Stk16 |
A |
G |
1: 75,189,835 (GRCm39) |
Q207R |
probably benign |
Het |
| Tapt1 |
C |
T |
5: 44,336,332 (GRCm39) |
V446M |
probably damaging |
Het |
| Tent5c |
A |
T |
3: 100,379,946 (GRCm39) |
M270K |
probably damaging |
Het |
| Tex56 |
C |
T |
13: 35,108,516 (GRCm39) |
|
probably null |
Het |
| Tnni3k |
A |
C |
3: 154,667,663 (GRCm39) |
V250G |
probably damaging |
Het |
| Ttll8 |
C |
T |
15: 88,799,848 (GRCm39) |
G531E |
possibly damaging |
Het |
| U2surp |
T |
A |
9: 95,346,472 (GRCm39) |
E862D |
possibly damaging |
Het |
| U2surp |
A |
G |
9: 95,364,234 (GRCm39) |
F561L |
probably damaging |
Het |
| Ust |
A |
G |
10: 8,173,842 (GRCm39) |
M221T |
probably benign |
Het |
| Wasf3 |
T |
C |
5: 146,392,401 (GRCm39) |
F157S |
probably damaging |
Het |
| Wdr64 |
G |
A |
1: 175,533,637 (GRCm39) |
C91Y |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,422,368 (GRCm39) |
Y2750C |
unknown |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation