Incidental Mutation 'R4192:Vit'
| ID |
318374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vit
|
| Ensembl Gene |
ENSMUSG00000024076 |
| Gene Name |
vitrin |
| Synonyms |
|
| MMRRC Submission |
041023-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R4192 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
78508063-78627409 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78586826 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 219
(H219R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024880]
|
| AlphaFold |
Q8VHI5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024880
AA Change: H219R
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000024880
Gene: ENSMUSG00000024076
AA Change: H219R
| 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 |
|
| Meta Mutation Damage Score |
0.0694 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (40/40) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
G |
T |
14: 36,096,579 (GRCm38) |
R178L |
possibly damaging |
Het |
| Acot4 |
T |
C |
12: 84,043,174 (GRCm38) |
|
probably benign |
Het |
| Add3 |
C |
A |
19: 53,242,524 (GRCm38) |
D543E |
probably benign |
Het |
| Angpt4 |
A |
C |
2: 151,943,318 (GRCm38) |
D418A |
probably benign |
Het |
| Ano8 |
A |
T |
8: 71,483,292 (GRCm38) |
V260D |
probably damaging |
Het |
| Cfh |
C |
T |
1: 140,102,716 (GRCm38) |
R860H |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,847,271 (GRCm38) |
D1536G |
probably damaging |
Het |
| Dnajb9 |
A |
T |
12: 44,207,077 (GRCm38) |
D182E |
probably benign |
Het |
| Epb42 |
G |
T |
2: 121,030,089 (GRCm38) |
|
probably null |
Het |
| Fam185a |
T |
A |
5: 21,425,124 (GRCm38) |
|
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,647,149 (GRCm38) |
D1710G |
probably damaging |
Het |
| Gabra2 |
G |
A |
5: 71,007,998 (GRCm38) |
P210S |
probably benign |
Het |
| Gm8369 |
C |
T |
19: 11,502,232 (GRCm38) |
P9S |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,481,511 (GRCm38) |
D541G |
probably damaging |
Het |
| Ints4 |
T |
G |
7: 97,507,733 (GRCm38) |
H337Q |
probably damaging |
Het |
| Itgam |
A |
G |
7: 128,064,732 (GRCm38) |
T44A |
probably benign |
Het |
| Lyst |
C |
A |
13: 13,740,513 (GRCm38) |
T3264N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,473,042 (GRCm38) |
F1077S |
possibly damaging |
Het |
| Myo3a |
T |
A |
2: 22,407,377 (GRCm38) |
F728I |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,605,534 (GRCm38) |
E72G |
probably benign |
Het |
| Nkain3 |
G |
A |
4: 20,485,003 (GRCm38) |
Q25* |
probably null |
Het |
| Oca2 |
T |
C |
7: 56,297,249 (GRCm38) |
F342S |
probably damaging |
Het |
| Or10d1c |
T |
A |
9: 38,983,017 (GRCm38) |
Q9L |
probably benign |
Het |
| Osbpl6 |
T |
A |
2: 76,585,229 (GRCm38) |
L499Q |
probably damaging |
Het |
| Pcdhgb8 |
G |
C |
18: 37,763,541 (GRCm38) |
D555H |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,258,741 (GRCm38) |
N634K |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 72,051,959 (GRCm38) |
K818R |
possibly damaging |
Het |
| Rab3gap1 |
T |
A |
1: 127,925,470 (GRCm38) |
|
probably benign |
Het |
| Rcc1l |
T |
C |
5: 134,155,809 (GRCm38) |
T385A |
probably benign |
Het |
| Rrm2 |
T |
C |
12: 24,708,378 (GRCm38) |
I11T |
probably benign |
Het |
| Scnn1b |
A |
G |
7: 121,902,739 (GRCm38) |
T207A |
possibly damaging |
Het |
| Spata31f3 |
A |
T |
4: 42,874,185 (GRCm38) |
|
probably benign |
Het |
| Syt12 |
T |
A |
19: 4,447,681 (GRCm38) |
|
probably benign |
Het |
| Tmprss6 |
A |
T |
15: 78,446,657 (GRCm38) |
|
probably null |
Het |
| Ttbk1 |
A |
T |
17: 46,479,247 (GRCm38) |
C91S |
probably damaging |
Het |
| Ube2q2l |
T |
C |
6: 136,401,437 (GRCm38) |
T132A |
probably benign |
Het |
| Vmn1r27 |
A |
C |
6: 58,215,827 (GRCm38) |
I14R |
probably damaging |
Het |
|
| Other mutations in Vit |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Vit
|
APN |
17 |
78,601,907 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL00929:Vit
|
APN |
17 |
78,579,401 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01447:Vit
|
APN |
17 |
78,625,204 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02000:Vit
|
APN |
17 |
78,605,486 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02230:Vit
|
APN |
17 |
78,619,627 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02245:Vit
|
APN |
17 |
78,625,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02315:Vit
|
APN |
17 |
78,622,658 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL03133:Vit
|
APN |
17 |
78,566,071 (GRCm38) |
missense |
probably benign |
|
|
R0025:Vit
|
UTSW |
17 |
78,599,835 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0025:Vit
|
UTSW |
17 |
78,599,835 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0520:Vit
|
UTSW |
17 |
78,625,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0550:Vit
|
UTSW |
17 |
78,624,793 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0565:Vit
|
UTSW |
17 |
78,624,837 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0856:Vit
|
UTSW |
17 |
78,619,657 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1155:Vit
|
UTSW |
17 |
78,566,027 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1327:Vit
|
UTSW |
17 |
78,625,200 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1690:Vit
|
UTSW |
17 |
78,624,865 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1802:Vit
|
UTSW |
17 |
78,605,511 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1822:Vit
|
UTSW |
17 |
78,622,836 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1826:Vit
|
UTSW |
17 |
78,534,676 (GRCm38) |
missense |
probably benign |
0.22 |
|
R1827:Vit
|
UTSW |
17 |
78,546,446 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1862:Vit
|
UTSW |
17 |
78,622,746 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2235:Vit
|
UTSW |
17 |
78,605,438 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2571:Vit
|
UTSW |
17 |
78,586,745 (GRCm38) |
missense |
probably benign |
|
|
R4011:Vit
|
UTSW |
17 |
78,534,692 (GRCm38) |
splice site |
probably benign |
|
|
R4190:Vit
|
UTSW |
17 |
78,586,826 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4191:Vit
|
UTSW |
17 |
78,586,826 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4193:Vit
|
UTSW |
17 |
78,586,826 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4635:Vit
|
UTSW |
17 |
78,574,212 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4705:Vit
|
UTSW |
17 |
78,625,114 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4841:Vit
|
UTSW |
17 |
78,601,879 (GRCm38) |
missense |
probably benign |
|
|
R4842:Vit
|
UTSW |
17 |
78,601,879 (GRCm38) |
missense |
probably benign |
|
|
R4884:Vit
|
UTSW |
17 |
78,624,753 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4923:Vit
|
UTSW |
17 |
78,586,841 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5128:Vit
|
UTSW |
17 |
78,625,146 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5272:Vit
|
UTSW |
17 |
78,586,835 (GRCm38) |
missense |
probably benign |
|
|
R5779:Vit
|
UTSW |
17 |
78,546,426 (GRCm38) |
missense |
probably benign |
|
|
R6596:Vit
|
UTSW |
17 |
78,622,845 (GRCm38) |
missense |
probably benign |
0.35 |
|
R6658:Vit
|
UTSW |
17 |
78,622,803 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6792:Vit
|
UTSW |
17 |
78,579,399 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6894:Vit
|
UTSW |
17 |
78,626,758 (GRCm38) |
nonsense |
probably null |
|
|
R7032:Vit
|
UTSW |
17 |
78,624,865 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7061:Vit
|
UTSW |
17 |
78,625,156 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7102:Vit
|
UTSW |
17 |
78,624,997 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7106:Vit
|
UTSW |
17 |
78,586,799 (GRCm38) |
missense |
probably benign |
|
|
R7292:Vit
|
UTSW |
17 |
78,605,498 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7413:Vit
|
UTSW |
17 |
78,624,880 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8191:Vit
|
UTSW |
17 |
78,546,399 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8385:Vit
|
UTSW |
17 |
78,619,637 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9106:Vit
|
UTSW |
17 |
78,626,849 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9314:Vit
|
UTSW |
17 |
78,619,615 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9433:Vit
|
UTSW |
17 |
78,624,984 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9588:Vit
|
UTSW |
17 |
78,622,650 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9772:Vit
|
UTSW |
17 |
78,624,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0023:Vit
|
UTSW |
17 |
78,566,164 (GRCm38) |
missense |
probably benign |
|
|
X0064:Vit
|
UTSW |
17 |
78,624,885 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTGCTAAAAGACAGTGGTG -3'
(R):5'- TCCCACCTGGTGAAAGTCTC -3'
Sequencing Primer
(F):5'- TCTGCTAAAAGACAGTGGTGGTCAG -3'
(R):5'- GTCTCACACACCCCTGAGTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation