Incidental Mutation 'R5266:Vnn1'
| ID |
401709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vnn1
|
| Ensembl Gene |
ENSMUSG00000037440 |
| Gene Name |
vanin 1 |
| Synonyms |
V-1, pantetheinase |
| MMRRC Submission |
042858-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R5266 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
23770586-23781241 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 23779303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 404
(C404Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041416]
|
| AlphaFold |
Q9Z0K8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041416
AA Change: C404Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040599
Gene: ENSMUSG00000037440
AA Change: C404Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:CN_hydrolase
|
52 |
279 |
2.5e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219254
|
| Meta Mutation Damage Score |
0.8843 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
97% (56/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the vanin family of proteins, which share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. This protein, like its mouse homolog, is likely a GPI-anchored cell surface molecule. The mouse protein is expressed by the perivascular thymic stromal cells and regulates migration of T-cell progenitors to the thymus. This gene lies in close proximity to, and in the same transcriptional orientation as, two other vanin genes on chromosome 6q23-q24. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for disruptions of this gene develop normally and so no abnormalities in the maturation of lymphoid organs. However, membrane bound pantetheinase is absent in livers and kidneys resuulting in an absence of cysteamine in these organs. [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 |
|---|
| 4930503L19Rik |
T |
C |
18: 70,591,455 (GRCm39) |
N457S |
probably damaging |
Het |
| Asic4 |
G |
A |
1: 75,427,567 (GRCm39) |
G31E |
probably benign |
Het |
| Atp2a3 |
A |
G |
11: 72,866,223 (GRCm39) |
D281G |
probably damaging |
Het |
| Azin1 |
T |
C |
15: 38,491,795 (GRCm39) |
D387G |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,204,043 (GRCm39) |
M660V |
probably benign |
Het |
| Catsperg2 |
G |
A |
7: 29,416,491 (GRCm39) |
T307M |
probably damaging |
Het |
| Cfap54 |
T |
G |
10: 92,651,764 (GRCm39) |
K3095N |
probably benign |
Het |
| Chl1 |
A |
G |
6: 103,677,504 (GRCm39) |
N706S |
probably damaging |
Het |
| Crym |
A |
G |
7: 119,798,517 (GRCm39) |
V113A |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,341,548 (GRCm39) |
S607P |
probably damaging |
Het |
| Cyp3a44 |
T |
C |
5: 145,731,207 (GRCm39) |
N198D |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Elac1 |
A |
G |
18: 73,875,740 (GRCm39) |
V97A |
probably benign |
Het |
| Erbb3 |
G |
A |
10: 128,405,505 (GRCm39) |
T1251M |
probably damaging |
Het |
| Gask1b |
T |
A |
3: 79,843,910 (GRCm39) |
N12K |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,061,416 (GRCm39) |
H316R |
possibly damaging |
Het |
| Ikzf3 |
A |
T |
11: 98,381,406 (GRCm39) |
M58K |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,835,555 (GRCm39) |
Y1746H |
probably damaging |
Het |
| Map3k11 |
T |
A |
19: 5,750,622 (GRCm39) |
N613K |
probably benign |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mrm1 |
A |
T |
11: 84,710,086 (GRCm39) |
L38Q |
possibly damaging |
Het |
| Myo7b |
A |
G |
18: 32,131,787 (GRCm39) |
F470L |
probably damaging |
Het |
| Ndst2 |
G |
A |
14: 20,774,555 (GRCm39) |
R834W |
probably damaging |
Het |
| Opa1 |
T |
A |
16: 29,436,948 (GRCm39) |
I637N |
probably benign |
Het |
| Or52h9 |
A |
T |
7: 104,203,026 (GRCm39) |
Q300L |
probably benign |
Het |
| Or5d43 |
T |
C |
2: 88,104,565 (GRCm39) |
Y276C |
possibly damaging |
Het |
| Padi4 |
A |
G |
4: 140,473,442 (GRCm39) |
V665A |
possibly damaging |
Het |
| Pcdh1 |
A |
G |
18: 38,325,252 (GRCm39) |
Y897H |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,663,190 (GRCm39) |
D345G |
probably damaging |
Het |
| Pla2g4a |
T |
C |
1: 149,740,918 (GRCm39) |
M366V |
possibly damaging |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Pon3 |
T |
C |
6: 5,240,860 (GRCm39) |
D34G |
possibly damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,448,876 (GRCm39) |
S133T |
probably damaging |
Het |
| Ppp4r3b |
T |
C |
11: 29,123,309 (GRCm39) |
S2P |
possibly damaging |
Het |
| Rbm20 |
A |
G |
19: 53,801,818 (GRCm39) |
T109A |
probably damaging |
Het |
| Rexo5 |
C |
A |
7: 119,443,660 (GRCm39) |
H690Q |
probably benign |
Het |
| Scube2 |
C |
T |
7: 109,408,437 (GRCm39) |
G670D |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,865 (GRCm39) |
I157M |
probably damaging |
Het |
| Slbp |
A |
T |
5: 33,801,210 (GRCm39) |
I167N |
probably damaging |
Het |
| Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
| Stk36 |
T |
C |
1: 74,650,317 (GRCm39) |
V283A |
probably benign |
Het |
| Tead1 |
A |
G |
7: 112,358,673 (GRCm39) |
|
probably benign |
Het |
| Tecpr2 |
G |
C |
12: 110,881,836 (GRCm39) |
W135S |
probably damaging |
Het |
| Tha1 |
A |
C |
11: 117,760,502 (GRCm39) |
S241A |
probably damaging |
Het |
| Ttc39a |
A |
T |
4: 109,279,701 (GRCm39) |
I112F |
probably benign |
Het |
| Vmn1r128 |
A |
T |
7: 21,083,328 (GRCm39) |
T11S |
probably benign |
Het |
| Wdr41 |
T |
C |
13: 95,131,759 (GRCm39) |
F57L |
probably damaging |
Het |
| Zfp975 |
T |
G |
7: 42,311,654 (GRCm39) |
T320P |
probably damaging |
Het |
| Zfp985 |
A |
T |
4: 147,667,289 (GRCm39) |
|
probably null |
Het |
| Zfpm2 |
T |
C |
15: 40,962,865 (GRCm39) |
S176P |
probably benign |
Het |
|
| Other mutations in Vnn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00838:Vnn1
|
APN |
10 |
23,776,677 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL01299:Vnn1
|
APN |
10 |
23,770,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01353:Vnn1
|
APN |
10 |
23,776,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01774:Vnn1
|
APN |
10 |
23,776,608 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01970:Vnn1
|
APN |
10 |
23,773,300 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01985:Vnn1
|
APN |
10 |
23,776,642 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02019:Vnn1
|
APN |
10 |
23,779,449 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02198:Vnn1
|
APN |
10 |
23,779,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02349:Vnn1
|
APN |
10 |
23,774,401 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02738:Vnn1
|
APN |
10 |
23,780,520 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03058:Vnn1
|
APN |
10 |
23,780,442 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0008:Vnn1
|
UTSW |
10 |
23,774,500 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0030:Vnn1
|
UTSW |
10 |
23,776,744 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0508:Vnn1
|
UTSW |
10 |
23,770,910 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0781:Vnn1
|
UTSW |
10 |
23,775,499 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1110:Vnn1
|
UTSW |
10 |
23,775,499 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1757:Vnn1
|
UTSW |
10 |
23,776,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1757:Vnn1
|
UTSW |
10 |
23,776,726 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1778:Vnn1
|
UTSW |
10 |
23,775,415 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2011:Vnn1
|
UTSW |
10 |
23,770,869 (GRCm39) |
nonsense |
probably null |
|
|
R2055:Vnn1
|
UTSW |
10 |
23,776,475 (GRCm39) |
splice site |
probably benign |
|
|
R2158:Vnn1
|
UTSW |
10 |
23,776,653 (GRCm39) |
nonsense |
probably null |
|
|
R2186:Vnn1
|
UTSW |
10 |
23,773,299 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4277:Vnn1
|
UTSW |
10 |
23,774,410 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4279:Vnn1
|
UTSW |
10 |
23,774,410 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4473:Vnn1
|
UTSW |
10 |
23,770,789 (GRCm39) |
missense |
probably benign |
|
|
R4590:Vnn1
|
UTSW |
10 |
23,775,303 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4708:Vnn1
|
UTSW |
10 |
23,773,250 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4794:Vnn1
|
UTSW |
10 |
23,776,602 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5495:Vnn1
|
UTSW |
10 |
23,774,462 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6064:Vnn1
|
UTSW |
10 |
23,770,807 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7081:Vnn1
|
UTSW |
10 |
23,770,903 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7088:Vnn1
|
UTSW |
10 |
23,776,645 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7221:Vnn1
|
UTSW |
10 |
23,770,952 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7334:Vnn1
|
UTSW |
10 |
23,776,658 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8784:Vnn1
|
UTSW |
10 |
23,780,526 (GRCm39) |
missense |
probably benign |
|
|
R8859:Vnn1
|
UTSW |
10 |
23,780,484 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8926:Vnn1
|
UTSW |
10 |
23,776,587 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8987:Vnn1
|
UTSW |
10 |
23,776,714 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9002:Vnn1
|
UTSW |
10 |
23,775,349 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9091:Vnn1
|
UTSW |
10 |
23,780,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9270:Vnn1
|
UTSW |
10 |
23,780,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9276:Vnn1
|
UTSW |
10 |
23,776,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9453:Vnn1
|
UTSW |
10 |
23,776,723 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9557:Vnn1
|
UTSW |
10 |
23,776,723 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCACTAAAGATGCAGAGGG -3'
(R):5'- ATCAAGCGGAGAGTGTTACC -3'
Sequencing Primer
(F):5'- GCGGCCCTGATTATAAAGTTCAGC -3'
(R):5'- GGAGAGTGTTACCTGAAACTCCC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation