Incidental Mutation 'R3684:Unc5d'
ID |
269469 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Unc5d
|
Ensembl Gene |
ENSMUSG00000063626 |
Gene Name |
unc-5 netrin receptor D |
Synonyms |
D930029E11Rik, Unc5h4 |
MMRRC Submission |
040682-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.322)
|
Stock # |
R3684 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
29136745-29709664 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29184620 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 627
(F627L)
|
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: F699L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128521 Gene: ENSMUSG00000063626 AA Change: F699L
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: F625L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210298
AA Change: F638L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210785
AA Change: F681L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211448
AA Change: F627L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
C |
T |
14: 68,819,447 (GRCm39) |
V17I |
probably benign |
Het |
Ahdc1 |
T |
C |
4: 132,793,013 (GRCm39) |
L1418P |
possibly damaging |
Het |
Atr |
T |
C |
9: 95,802,453 (GRCm39) |
S1782P |
probably damaging |
Het |
Btbd9 |
T |
A |
17: 30,553,281 (GRCm39) |
N394Y |
probably damaging |
Het |
Calb2 |
A |
G |
8: 110,883,620 (GRCm39) |
Y35H |
probably benign |
Het |
Cdon |
A |
G |
9: 35,400,328 (GRCm39) |
E1014G |
possibly damaging |
Het |
Cep83 |
A |
G |
10: 94,622,687 (GRCm39) |
T588A |
probably benign |
Het |
Cfap126 |
T |
C |
1: 170,941,600 (GRCm39) |
S32P |
possibly damaging |
Het |
Clcn7 |
T |
C |
17: 25,369,567 (GRCm39) |
L301P |
possibly damaging |
Het |
Corin |
T |
C |
5: 72,488,198 (GRCm39) |
D610G |
probably damaging |
Het |
Dok3 |
A |
G |
13: 55,672,306 (GRCm39) |
S154P |
probably damaging |
Het |
Ggta1 |
T |
A |
2: 35,298,000 (GRCm39) |
T162S |
probably benign |
Het |
Gldn |
G |
A |
9: 54,245,624 (GRCm39) |
E392K |
possibly damaging |
Het |
Gls |
A |
T |
1: 52,205,452 (GRCm39) |
D447E |
probably damaging |
Het |
Itih5 |
A |
T |
2: 10,243,435 (GRCm39) |
N391Y |
possibly damaging |
Het |
Jchain |
G |
A |
5: 88,670,398 (GRCm39) |
P74S |
probably damaging |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Lrrn1 |
T |
C |
6: 107,544,910 (GRCm39) |
V236A |
probably benign |
Het |
Mcm3ap |
T |
C |
10: 76,325,260 (GRCm39) |
S954P |
possibly damaging |
Het |
Myh11 |
T |
C |
16: 14,021,098 (GRCm39) |
N1725S |
probably benign |
Het |
Ppcdc |
C |
T |
9: 57,328,408 (GRCm39) |
|
probably null |
Het |
Rhobtb3 |
A |
G |
13: 76,087,600 (GRCm39) |
I129T |
probably damaging |
Het |
Sfxn2 |
A |
G |
19: 46,579,592 (GRCm39) |
R252G |
probably benign |
Het |
Sh2d2a |
C |
A |
3: 87,759,027 (GRCm39) |
|
probably null |
Het |
Sh3gl1 |
T |
C |
17: 56,325,953 (GRCm39) |
K159E |
possibly damaging |
Het |
Slc7a9 |
A |
G |
7: 35,152,926 (GRCm39) |
T115A |
probably benign |
Het |
Spmap1 |
A |
T |
11: 97,666,525 (GRCm39) |
Y54N |
probably damaging |
Het |
Synj2 |
A |
T |
17: 6,078,718 (GRCm39) |
D1020V |
probably damaging |
Het |
Tenm2 |
C |
A |
11: 35,942,644 (GRCm39) |
V1342L |
probably benign |
Het |
Tmem127 |
T |
A |
2: 127,090,652 (GRCm39) |
I56N |
possibly damaging |
Het |
Traj7 |
A |
G |
14: 54,448,938 (GRCm39) |
|
probably benign |
Het |
Unc79 |
T |
A |
12: 103,041,062 (GRCm39) |
N698K |
probably benign |
Het |
Usp17la |
A |
T |
7: 104,510,937 (GRCm39) |
N514I |
possibly damaging |
Het |
Uvrag |
A |
T |
7: 98,637,427 (GRCm39) |
C341S |
probably damaging |
Het |
Zfp810 |
T |
C |
9: 22,189,531 (GRCm39) |
D459G |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTACTGATATTGGTGTTTAGGAAGC -3'
(R):5'- ATGTAAACTCTTGGGCCCG -3'
Sequencing Primer
(F):5'- TACCCCTTTGGAAGCATGAG -3'
(R):5'- AAACTCTTGGGCCCGATGGTG -3'
|
Posted On |
2015-02-19 |