Incidental Mutation 'R8436:Vipas39'
| ID |
654013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vipas39
|
| Ensembl Gene |
ENSMUSG00000021038 |
| Gene Name |
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog |
| Synonyms |
Vipar, SPE-39 |
| MMRRC Submission |
067777-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.606)
|
| Stock # |
R8436 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
87285642-87313030 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87304191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 125
(D125V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021426]
[ENSMUST00000072744]
[ENSMUST00000179379]
|
| AlphaFold |
Q8BGQ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021426
AA Change: D125V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000021426
Gene: ENSMUSG00000021038
AA Change: D125V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Golgin_A5
|
24 |
470 |
4.3e-147 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072744
AA Change: D125V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000072527
Gene: ENSMUSG00000021038
AA Change: D125V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Golgin_A5
|
24 |
489 |
3.7e-154 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179379
AA Change: D125V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000137190
Gene: ENSMUSG00000021038
AA Change: D125V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Golgin_A5
|
24 |
470 |
4.3e-147 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in the sorting of lysosomal proteins. Mutations in this gene are associated with ARCS2 (arthrogryposis, renal dysfunction, and cholestasis-2). Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a conditional allele activated by an inducible cre exhibit dry and scaly skin, hair loss, and defects in tail tendon collagen I structure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,949,936 (GRCm39) |
I1278V |
possibly damaging |
Het |
| Baz1b |
A |
G |
5: 135,266,821 (GRCm39) |
H1210R |
probably damaging |
Het |
| Cdt1 |
C |
T |
8: 123,296,070 (GRCm39) |
S128L |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,800,398 (GRCm39) |
N1603K |
unknown |
Het |
| Cfap99 |
A |
G |
5: 34,469,026 (GRCm39) |
N300S |
possibly damaging |
Het |
| Chrdl2 |
G |
A |
7: 99,676,940 (GRCm39) |
|
probably null |
Het |
| Cpb2 |
C |
A |
14: 75,510,015 (GRCm39) |
F258L |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,868,218 (GRCm39) |
D767E |
probably damaging |
Het |
| Dennd3 |
C |
T |
15: 73,434,198 (GRCm39) |
T956I |
probably damaging |
Het |
| Emcn |
A |
G |
3: 137,129,228 (GRCm39) |
T245A |
possibly damaging |
Het |
| Gm4353 |
A |
G |
7: 115,682,864 (GRCm39) |
V239A |
probably damaging |
Het |
| Gm4884 |
G |
A |
7: 40,692,810 (GRCm39) |
A260T |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,446,421 (GRCm39) |
D205G |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,481,210 (GRCm39) |
S3005G |
probably benign |
Het |
| Ifngr1 |
T |
C |
10: 19,479,553 (GRCm39) |
L148P |
probably damaging |
Het |
| Irf2 |
C |
T |
8: 47,271,929 (GRCm39) |
T172M |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,267,970 (GRCm39) |
H82R |
possibly damaging |
Het |
| Kcnc4 |
G |
T |
3: 107,366,084 (GRCm39) |
N41K |
probably damaging |
Het |
| Lig3 |
C |
T |
11: 82,682,870 (GRCm39) |
A490V |
possibly damaging |
Het |
| Megf6 |
G |
A |
4: 154,349,649 (GRCm39) |
E946K |
probably damaging |
Het |
| Mpi |
A |
T |
9: 57,452,200 (GRCm39) |
Y359N |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,349,709 (GRCm39) |
S1365G |
probably damaging |
Het |
| P3h3 |
C |
A |
6: 124,828,041 (GRCm39) |
|
probably null |
Het |
| Pdk2 |
A |
T |
11: 94,930,259 (GRCm39) |
V59D |
probably damaging |
Het |
| Ppip5k2 |
T |
C |
1: 97,683,613 (GRCm39) |
K168R |
probably benign |
Het |
| Prg4 |
G |
T |
1: 150,331,318 (GRCm39) |
P452T |
unknown |
Het |
| Prl2b1 |
T |
C |
13: 27,567,442 (GRCm39) |
N234S |
possibly damaging |
Het |
| Rnd1 |
T |
A |
15: 98,574,455 (GRCm39) |
T41S |
possibly damaging |
Het |
| Sall4 |
G |
A |
2: 168,597,830 (GRCm39) |
P337S |
probably damaging |
Het |
| Slc1a2 |
G |
A |
2: 102,586,298 (GRCm39) |
A301T |
possibly damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,194,913 (GRCm39) |
R99W |
possibly damaging |
Het |
| Svep1 |
G |
A |
4: 58,044,053 (GRCm39) |
T3531I |
possibly damaging |
Het |
| Sycp2 |
T |
C |
2: 178,004,761 (GRCm39) |
D894G |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,178,659 (GRCm39) |
N4605S |
probably benign |
Het |
| Syt4 |
A |
C |
18: 31,573,472 (GRCm39) |
C348G |
possibly damaging |
Het |
| Tceanc2 |
G |
A |
4: 107,034,778 (GRCm39) |
T28M |
probably damaging |
Het |
| Tmco1 |
A |
G |
1: 167,136,254 (GRCm39) |
D5G |
|
Het |
| Tnfsf12 |
T |
C |
11: 69,577,713 (GRCm39) |
K235E |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,450 (GRCm39) |
S2396P |
possibly damaging |
Het |
| Vmn1r86 |
A |
G |
7: 12,836,771 (GRCm39) |
F35S |
probably benign |
Het |
| Vmn2r16 |
A |
G |
5: 109,511,649 (GRCm39) |
N619D |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,718,157 (GRCm39) |
V521A |
probably benign |
Het |
| Wdr20rt |
T |
A |
12: 65,273,035 (GRCm39) |
L166Q |
probably damaging |
Het |
| Zbtb11 |
T |
A |
16: 55,821,022 (GRCm39) |
C706* |
probably null |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zscan21 |
A |
T |
5: 138,116,178 (GRCm39) |
Y30F |
unknown |
Het |
|
| Other mutations in Vipas39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01413:Vipas39
|
APN |
12 |
87,296,171 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01418:Vipas39
|
APN |
12 |
87,296,171 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02026:Vipas39
|
APN |
12 |
87,298,483 (GRCm39) |
splice site |
probably benign |
|
|
IGL03089:Vipas39
|
APN |
12 |
87,300,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0173:Vipas39
|
UTSW |
12 |
87,297,285 (GRCm39) |
splice site |
probably benign |
|
|
R0909:Vipas39
|
UTSW |
12 |
87,288,105 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1505:Vipas39
|
UTSW |
12 |
87,292,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2897:Vipas39
|
UTSW |
12 |
87,289,297 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2968:Vipas39
|
UTSW |
12 |
87,289,345 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2969:Vipas39
|
UTSW |
12 |
87,289,345 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2970:Vipas39
|
UTSW |
12 |
87,289,345 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4622:Vipas39
|
UTSW |
12 |
87,291,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4676:Vipas39
|
UTSW |
12 |
87,288,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5181:Vipas39
|
UTSW |
12 |
87,286,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5188:Vipas39
|
UTSW |
12 |
87,301,021 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5881:Vipas39
|
UTSW |
12 |
87,298,581 (GRCm39) |
nonsense |
probably null |
|
|
R6080:Vipas39
|
UTSW |
12 |
87,288,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6425:Vipas39
|
UTSW |
12 |
87,288,063 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6896:Vipas39
|
UTSW |
12 |
87,289,345 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7438:Vipas39
|
UTSW |
12 |
87,288,705 (GRCm39) |
splice site |
probably null |
|
|
R7538:Vipas39
|
UTSW |
12 |
87,310,677 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8919:Vipas39
|
UTSW |
12 |
87,305,858 (GRCm39) |
nonsense |
probably null |
|
|
R9174:Vipas39
|
UTSW |
12 |
87,305,885 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9460:Vipas39
|
UTSW |
12 |
87,288,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9671:Vipas39
|
UTSW |
12 |
87,292,985 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCTTCTGTCTCCTGGGGTAG -3'
(R):5'- GACCCCTGTTTTACTAGCATATCTG -3'
Sequencing Primer
(F):5'- TAGCTCCAGGGCCAAAGG -3'
(R):5'- AGTTTCACAACCGGGTACTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation