Incidental Mutation 'IGL00402:Vit'
| ID |
5743 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vit
|
| Ensembl Gene |
ENSMUSG00000024076 |
| Gene Name |
vitrin |
| Synonyms |
1700052E02Rik, 1700110E08Rik, AKH, akhirin, 2810429K11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
IGL00402
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
78815493-78934837 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 78909336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024880]
|
| AlphaFold |
Q8VHI5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000024880
|
| SMART Domains |
Protein: ENSMUSP00000024880
Gene: ENSMUSG00000024076
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
LCCL
|
42 |
124 |
2.5e-45 |
SMART |
|
low complexity region
|
148 |
171 |
N/A |
INTRINSIC |
|
VWA
|
263 |
451 |
7.34e-39 |
SMART |
|
VWA
|
465 |
641 |
1.02e-46 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an extracellular matrix (ECM) protein. The protein may be associated with cell adhesion and migration. High levels of expression of the protein in specific parts of the brain suggest its likely role in neural development. [provided by RefSeq, Jun 2016]
PHENOTYPE: Embryos homozygous for a knock-out allele show decreased spinal cord size associated with reduced cell proliferation and altered cell differentiation in the central canal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,514,165 (GRCm39) |
L846H |
probably benign |
Het |
| Abca6 |
A |
T |
11: 110,075,535 (GRCm39) |
L1319I |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,043,065 (GRCm39) |
|
probably benign |
Het |
| Atg16l2 |
A |
C |
7: 100,945,360 (GRCm39) |
S268R |
probably benign |
Het |
| Atp1b3 |
T |
C |
9: 96,215,756 (GRCm39) |
|
probably benign |
Het |
| Atxn7 |
T |
G |
14: 14,096,324 (GRCm38) |
|
probably benign |
Het |
| Birc6 |
G |
A |
17: 74,880,558 (GRCm39) |
|
probably benign |
Het |
| C4b |
G |
A |
17: 34,953,402 (GRCm39) |
T1027I |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,722,863 (GRCm39) |
I577T |
probably damaging |
Het |
| Cbx6 |
A |
G |
15: 79,713,130 (GRCm39) |
V99A |
possibly damaging |
Het |
| Ccr9 |
A |
C |
9: 123,609,109 (GRCm39) |
I252L |
probably benign |
Het |
| Cdh8 |
A |
T |
8: 100,006,322 (GRCm39) |
D88E |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,749,306 (GRCm39) |
S258P |
probably damaging |
Het |
| Cep57l1 |
T |
G |
10: 41,597,547 (GRCm39) |
|
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,822,178 (GRCm39) |
H234Q |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,588,819 (GRCm39) |
T1099A |
possibly damaging |
Het |
| Col4a4 |
C |
T |
1: 82,469,362 (GRCm39) |
G802D |
unknown |
Het |
| Ddx41 |
T |
C |
13: 55,679,212 (GRCm39) |
T545A |
probably damaging |
Het |
| Disc1 |
A |
T |
8: 125,815,014 (GRCm39) |
T293S |
probably benign |
Het |
| Fam13b |
A |
T |
18: 34,587,771 (GRCm39) |
V509D |
probably damaging |
Het |
| Ffar4 |
C |
T |
19: 38,095,837 (GRCm39) |
P192L |
probably benign |
Het |
| Fn1 |
C |
A |
1: 71,680,322 (GRCm39) |
C461F |
probably damaging |
Het |
| Gm14226 |
G |
T |
2: 154,867,078 (GRCm39) |
S345I |
probably damaging |
Het |
| Gopc |
T |
C |
10: 52,225,326 (GRCm39) |
K308E |
probably damaging |
Het |
| Hapln2 |
A |
T |
3: 87,931,641 (GRCm39) |
N28K |
possibly damaging |
Het |
| Hectd1 |
T |
C |
12: 51,815,891 (GRCm39) |
S1394G |
possibly damaging |
Het |
| Hectd1 |
T |
C |
12: 51,806,215 (GRCm39) |
H1807R |
probably benign |
Het |
| Ifnl2 |
A |
T |
7: 28,208,290 (GRCm39) |
V193D |
possibly damaging |
Het |
| Il1rap |
T |
A |
16: 26,541,151 (GRCm39) |
M464K |
possibly damaging |
Het |
| Krtap16-1 |
A |
T |
11: 99,876,557 (GRCm39) |
C282* |
probably null |
Het |
| Ltv1 |
C |
T |
10: 13,066,327 (GRCm39) |
V100I |
probably benign |
Het |
| Mcf2l |
T |
C |
8: 13,050,857 (GRCm39) |
S308P |
probably damaging |
Het |
| Narf |
G |
A |
11: 121,129,344 (GRCm39) |
|
probably null |
Het |
| Nmd3 |
T |
A |
3: 69,652,573 (GRCm39) |
N386K |
possibly damaging |
Het |
| Noxo1 |
C |
T |
17: 24,917,910 (GRCm39) |
|
probably benign |
Het |
| Or1e30 |
T |
A |
11: 73,678,406 (GRCm39) |
I214N |
probably damaging |
Het |
| Ppic |
C |
T |
18: 53,542,366 (GRCm39) |
G114D |
probably damaging |
Het |
| Ppp4r1 |
T |
C |
17: 66,123,014 (GRCm39) |
S339P |
probably benign |
Het |
| Ptprg |
T |
A |
14: 12,215,992 (GRCm38) |
L1147Q |
probably damaging |
Het |
| Qser1 |
A |
G |
2: 104,617,326 (GRCm39) |
V1072A |
probably benign |
Het |
| Rad54l2 |
T |
A |
9: 106,577,760 (GRCm39) |
M1054L |
probably benign |
Het |
| Scara5 |
A |
C |
14: 65,975,864 (GRCm39) |
|
probably benign |
Het |
| Smtnl2 |
C |
T |
11: 72,294,085 (GRCm39) |
|
probably benign |
Het |
| Spink8 |
A |
T |
9: 109,648,287 (GRCm39) |
I25F |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,926,372 (GRCm39) |
D3891G |
possibly damaging |
Het |
| Zfp207 |
T |
A |
11: 80,283,911 (GRCm39) |
M277K |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,732,623 (GRCm39) |
D641G |
probably benign |
Het |
|
| Other mutations in Vit |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00929:Vit
|
APN |
17 |
78,886,830 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01447:Vit
|
APN |
17 |
78,932,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02000:Vit
|
APN |
17 |
78,912,915 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02230:Vit
|
APN |
17 |
78,927,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02245:Vit
|
APN |
17 |
78,932,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02315:Vit
|
APN |
17 |
78,930,087 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03133:Vit
|
APN |
17 |
78,873,500 (GRCm39) |
missense |
probably benign |
|
|
R0025:Vit
|
UTSW |
17 |
78,907,264 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0025:Vit
|
UTSW |
17 |
78,907,264 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0520:Vit
|
UTSW |
17 |
78,932,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0550:Vit
|
UTSW |
17 |
78,932,222 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0565:Vit
|
UTSW |
17 |
78,932,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0856:Vit
|
UTSW |
17 |
78,927,086 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1155:Vit
|
UTSW |
17 |
78,873,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1327:Vit
|
UTSW |
17 |
78,932,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1690:Vit
|
UTSW |
17 |
78,932,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1802:Vit
|
UTSW |
17 |
78,912,940 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1822:Vit
|
UTSW |
17 |
78,930,265 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1826:Vit
|
UTSW |
17 |
78,842,105 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1827:Vit
|
UTSW |
17 |
78,853,875 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1862:Vit
|
UTSW |
17 |
78,930,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2235:Vit
|
UTSW |
17 |
78,912,867 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2571:Vit
|
UTSW |
17 |
78,894,174 (GRCm39) |
missense |
probably benign |
|
|
R4011:Vit
|
UTSW |
17 |
78,842,121 (GRCm39) |
splice site |
probably benign |
|
|
R4190:Vit
|
UTSW |
17 |
78,894,255 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4191:Vit
|
UTSW |
17 |
78,894,255 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4192:Vit
|
UTSW |
17 |
78,894,255 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4193:Vit
|
UTSW |
17 |
78,894,255 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4635:Vit
|
UTSW |
17 |
78,881,641 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4705:Vit
|
UTSW |
17 |
78,932,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Vit
|
UTSW |
17 |
78,909,308 (GRCm39) |
missense |
probably benign |
|
|
R4842:Vit
|
UTSW |
17 |
78,909,308 (GRCm39) |
missense |
probably benign |
|
|
R4884:Vit
|
UTSW |
17 |
78,932,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4923:Vit
|
UTSW |
17 |
78,894,270 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5128:Vit
|
UTSW |
17 |
78,932,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5272:Vit
|
UTSW |
17 |
78,894,264 (GRCm39) |
missense |
probably benign |
|
|
R5779:Vit
|
UTSW |
17 |
78,853,855 (GRCm39) |
missense |
probably benign |
|
|
R6596:Vit
|
UTSW |
17 |
78,930,274 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6658:Vit
|
UTSW |
17 |
78,930,232 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6792:Vit
|
UTSW |
17 |
78,886,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6894:Vit
|
UTSW |
17 |
78,934,187 (GRCm39) |
nonsense |
probably null |
|
|
R7032:Vit
|
UTSW |
17 |
78,932,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7061:Vit
|
UTSW |
17 |
78,932,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7102:Vit
|
UTSW |
17 |
78,932,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7106:Vit
|
UTSW |
17 |
78,894,228 (GRCm39) |
missense |
probably benign |
|
|
R7292:Vit
|
UTSW |
17 |
78,912,927 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7413:Vit
|
UTSW |
17 |
78,932,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8191:Vit
|
UTSW |
17 |
78,853,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8385:Vit
|
UTSW |
17 |
78,927,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9106:Vit
|
UTSW |
17 |
78,934,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9314:Vit
|
UTSW |
17 |
78,927,044 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9433:Vit
|
UTSW |
17 |
78,932,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9588:Vit
|
UTSW |
17 |
78,930,079 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9772:Vit
|
UTSW |
17 |
78,932,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Vit
|
UTSW |
17 |
78,873,593 (GRCm39) |
missense |
probably benign |
|
|
X0064:Vit
|
UTSW |
17 |
78,932,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation