Incidental Mutation 'R1505:Vipas39'
ID |
169130 |
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 |
040868-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.606)
|
Stock # |
R1505 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
87285642-87313030 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87292934 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 318
(Y318C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137190
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021426]
[ENSMUST00000072744]
[ENSMUST00000179379]
|
AlphaFold |
Q8BGQ1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021426
AA Change: Y318C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021426 Gene: ENSMUSG00000021038 AA Change: Y318C
Domain | Start | End | E-Value | Type |
Pfam:Golgin_A5
|
24 |
470 |
4.3e-147 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072744
AA Change: Y337C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072527 Gene: ENSMUSG00000021038 AA Change: Y337C
Domain | Start | End | E-Value | Type |
Pfam:Golgin_A5
|
24 |
489 |
3.7e-154 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179379
AA Change: Y318C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137190 Gene: ENSMUSG00000021038 AA Change: Y318C
Domain | Start | End | E-Value | Type |
Pfam:Golgin_A5
|
24 |
470 |
4.3e-147 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220858
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221707
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222350
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 86.3%
|
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 |
Abcg3 |
T |
A |
5: 105,099,431 (GRCm39) |
R444W |
probably damaging |
Het |
Adnp |
A |
G |
2: 168,025,661 (GRCm39) |
S545P |
possibly damaging |
Het |
Ankrd17 |
T |
C |
5: 90,447,885 (GRCm39) |
R219G |
possibly damaging |
Het |
Ap2m1 |
C |
G |
16: 20,361,447 (GRCm39) |
P372A |
probably benign |
Het |
Calml3 |
T |
A |
13: 3,854,071 (GRCm39) |
T45S |
probably benign |
Het |
Casp8 |
A |
G |
1: 58,868,081 (GRCm39) |
E174G |
probably damaging |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Cfap221 |
A |
C |
1: 119,881,358 (GRCm39) |
L368R |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,733,123 (GRCm39) |
|
probably null |
Het |
Cnot1 |
A |
T |
8: 96,455,295 (GRCm39) |
I2035N |
probably damaging |
Het |
Cyp2c67 |
T |
C |
19: 39,637,408 (GRCm39) |
R23G |
probably benign |
Het |
Dnah10 |
A |
C |
5: 124,831,303 (GRCm39) |
H777P |
possibly damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fam162b |
G |
A |
10: 51,463,298 (GRCm39) |
A123V |
probably damaging |
Het |
Golgb1 |
T |
A |
16: 36,740,005 (GRCm39) |
N2781K |
possibly damaging |
Het |
Hs2st1 |
C |
A |
3: 144,140,322 (GRCm39) |
R333L |
probably benign |
Het |
Kmt2e |
A |
G |
5: 23,705,533 (GRCm39) |
H1319R |
probably null |
Het |
Necab1 |
A |
T |
4: 14,960,047 (GRCm39) |
M300K |
probably benign |
Het |
Ntrk3 |
T |
A |
7: 78,110,272 (GRCm39) |
I321F |
probably damaging |
Het |
Or5p60 |
A |
G |
7: 107,724,200 (GRCm39) |
V90A |
probably benign |
Het |
Or7e169 |
A |
T |
9: 19,757,084 (GRCm39) |
M277K |
probably benign |
Het |
Or8g52 |
A |
G |
9: 39,630,774 (GRCm39) |
N84D |
probably damaging |
Het |
Or8k41 |
A |
T |
2: 86,313,557 (GRCm39) |
H176Q |
possibly damaging |
Het |
Osbpl6 |
T |
C |
2: 76,409,586 (GRCm39) |
S483P |
probably damaging |
Het |
Pcdhb17 |
A |
C |
18: 37,619,875 (GRCm39) |
N555T |
probably damaging |
Het |
Pdgfc |
G |
A |
3: 81,116,543 (GRCm39) |
R299H |
possibly damaging |
Het |
Ptpn7 |
A |
T |
1: 135,062,302 (GRCm39) |
T83S |
probably benign |
Het |
Rapgef5 |
T |
C |
12: 117,652,354 (GRCm39) |
V79A |
possibly damaging |
Het |
Rexo5 |
T |
A |
7: 119,398,826 (GRCm39) |
C54* |
probably null |
Het |
Riok3 |
A |
G |
18: 12,285,935 (GRCm39) |
K418R |
probably benign |
Het |
Robo4 |
G |
A |
9: 37,314,523 (GRCm39) |
G170D |
probably damaging |
Het |
Rpl8 |
A |
G |
15: 76,788,610 (GRCm39) |
D33G |
possibly damaging |
Het |
Rspo2 |
T |
C |
15: 42,939,239 (GRCm39) |
T184A |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,569,478 (GRCm39) |
M4942K |
possibly damaging |
Het |
Sel1l |
T |
C |
12: 91,780,736 (GRCm39) |
Y585C |
probably damaging |
Het |
Slc25a11 |
G |
T |
11: 70,537,650 (GRCm39) |
D13E |
probably benign |
Het |
Slc5a6 |
G |
T |
5: 31,194,455 (GRCm39) |
H584N |
probably benign |
Het |
Snrpf |
A |
G |
10: 93,419,381 (GRCm39) |
V69A |
possibly damaging |
Het |
Sorbs3 |
T |
A |
14: 70,428,251 (GRCm39) |
K475* |
probably null |
Het |
Speg |
G |
A |
1: 75,352,186 (GRCm39) |
V35I |
probably benign |
Het |
Tlk2 |
T |
G |
11: 105,151,121 (GRCm39) |
V468G |
probably damaging |
Het |
Trim6 |
T |
A |
7: 103,881,771 (GRCm39) |
W341R |
probably damaging |
Het |
Ttll5 |
T |
A |
12: 85,926,184 (GRCm39) |
I326N |
probably damaging |
Het |
Vmn1r185 |
T |
A |
7: 26,310,903 (GRCm39) |
I201F |
probably damaging |
Het |
Vwce |
A |
G |
19: 10,641,608 (GRCm39) |
H778R |
probably benign |
Het |
Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
probably benign |
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 |
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 |
|
R8436:Vipas39
|
UTSW |
12 |
87,304,191 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- TGCTAGGATGCCAGCCACATATGG -3'
(R):5'- ACGAGCCTTTATTTCCTCGACGAAG -3'
Sequencing Primer
(F):5'- GGCCACACAAACCCTCATAAAC -3'
(R):5'- ttcctccctctctcccttc -3'
|
Posted On |
2014-04-13 |