Incidental Mutation 'R5188:Vipas39'
| ID |
398022 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.606)
|
| Stock # |
R5188 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
87285642-87313030 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 87301021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 161
(R161S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021426]
[ENSMUST00000072744]
[ENSMUST00000179379]
|
| AlphaFold |
Q8BGQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021426
|
| SMART Domains |
Protein: ENSMUSP00000021426
Gene: ENSMUSG00000021038
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Golgin_A5
|
24 |
470 |
4.3e-147 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072744
AA Change: R161S
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000072527
Gene: ENSMUSG00000021038
AA Change: R161S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Golgin_A5
|
24 |
489 |
3.7e-154 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179379
|
| SMART Domains |
Protein: ENSMUSP00000137190
Gene: ENSMUSG00000021038
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Golgin_A5
|
24 |
470 |
4.3e-147 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222350
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Abca12 |
T |
A |
1: 71,330,651 (GRCm39) |
I1335F |
probably benign |
Het |
| Amigo3 |
C |
A |
9: 107,931,882 (GRCm39) |
A435E |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,803,778 (GRCm39) |
N1871K |
probably benign |
Het |
| Ctsw |
C |
T |
19: 5,517,120 (GRCm39) |
A71T |
probably damaging |
Het |
| Decr1 |
C |
T |
4: 15,924,270 (GRCm39) |
V217M |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,738,827 (GRCm39) |
T2389A |
probably benign |
Het |
| Gpr151 |
A |
G |
18: 42,711,820 (GRCm39) |
M286T |
probably benign |
Het |
| Katnbl1 |
T |
A |
2: 112,240,499 (GRCm39) |
I262N |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,443,821 (GRCm39) |
C149R |
probably damaging |
Het |
| Mpc1 |
A |
T |
17: 8,515,215 (GRCm39) |
|
probably benign |
Het |
| Ndufv1 |
A |
T |
19: 4,059,988 (GRCm39) |
N37K |
probably damaging |
Het |
| Or1n1b |
T |
A |
2: 36,780,405 (GRCm39) |
I152L |
probably benign |
Het |
| Or5af2 |
C |
A |
11: 58,708,146 (GRCm39) |
T104K |
probably damaging |
Het |
| Or8g50 |
T |
C |
9: 39,648,531 (GRCm39) |
V140A |
probably benign |
Het |
| Or8k1 |
T |
G |
2: 86,047,521 (GRCm39) |
S178R |
probably benign |
Het |
| Pnpla7 |
C |
A |
2: 24,887,312 (GRCm39) |
P52Q |
probably benign |
Het |
| Prh1 |
A |
G |
6: 132,548,670 (GRCm39) |
Q59R |
unknown |
Het |
| Ren1 |
A |
G |
1: 133,278,351 (GRCm39) |
|
probably benign |
Het |
| Rnf148 |
T |
C |
6: 23,654,139 (GRCm39) |
T286A |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 141,942,015 (GRCm39) |
|
probably null |
Het |
| Srp72 |
T |
A |
5: 77,122,598 (GRCm39) |
S10T |
possibly damaging |
Het |
| Stk11 |
G |
T |
10: 79,962,113 (GRCm39) |
G215V |
probably damaging |
Het |
| Stk4 |
T |
C |
2: 163,930,828 (GRCm39) |
M143T |
possibly damaging |
Het |
| Supt20 |
T |
A |
3: 54,617,849 (GRCm39) |
S318T |
possibly damaging |
Het |
| Tchh |
G |
C |
3: 93,353,986 (GRCm39) |
R1142P |
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 |
|
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'- CTTCTAACTGTGGTGGATTTGC -3'
(R):5'- GTCTGTGTCACCCTTGCTCTAG -3'
Sequencing Primer
(F):5'- GGATTTGCTTTGCTCCTGAAAAC -3'
(R):5'- GAATTCACTCTGTAGACCAAGCTGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation