Incidental Mutation 'IGL01418:Vipas39'
| ID |
278465 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01418
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
87285642-87313030 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87296171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 274
(T274I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021426]
[ENSMUST00000072744]
[ENSMUST00000179379]
|
| AlphaFold |
Q8BGQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021426
AA Change: T255I
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000021426
Gene: ENSMUSG00000021038
AA Change: T255I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Golgin_A5
|
24 |
470 |
4.3e-147 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072744
AA Change: T274I
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000072527
Gene: ENSMUSG00000021038
AA Change: T274I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Golgin_A5
|
24 |
489 |
3.7e-154 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179379
AA Change: T255I
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000137190
Gene: ENSMUSG00000021038
AA Change: T255I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Golgin_A5
|
24 |
470 |
4.3e-147 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221707
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222350
|
| Coding Region Coverage |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam7 |
T |
A |
14: 68,762,655 (GRCm39) |
H190L |
probably benign |
Het |
| Apoo-ps |
T |
A |
13: 107,551,032 (GRCm39) |
|
noncoding transcript |
Het |
| Asic1 |
T |
A |
15: 99,569,998 (GRCm39) |
N106K |
probably damaging |
Het |
| Ceacam5 |
G |
A |
7: 17,479,524 (GRCm39) |
A214T |
probably damaging |
Het |
| Cfap221 |
T |
A |
1: 119,912,801 (GRCm39) |
H91L |
possibly damaging |
Het |
| Cnga4 |
A |
T |
7: 105,054,169 (GRCm39) |
M46L |
probably benign |
Het |
| Ctcfl |
T |
C |
2: 172,960,124 (GRCm39) |
E153G |
probably benign |
Het |
| Cubn |
C |
T |
2: 13,288,852 (GRCm39) |
V3374I |
probably benign |
Het |
| Cyb561a3 |
T |
A |
19: 10,562,610 (GRCm39) |
H83Q |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,951,217 (GRCm39) |
W1126* |
probably null |
Het |
| E130311K13Rik |
A |
C |
3: 63,827,683 (GRCm39) |
L141R |
possibly damaging |
Het |
| Ercc5 |
A |
G |
1: 44,206,440 (GRCm39) |
K451R |
probably benign |
Het |
| Fbxo34 |
T |
A |
14: 47,768,241 (GRCm39) |
C585S |
possibly damaging |
Het |
| Hoxc9 |
T |
A |
15: 102,892,432 (GRCm39) |
M215K |
probably damaging |
Het |
| Ifi214 |
T |
A |
1: 173,356,995 (GRCm39) |
N36I |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,452,542 (GRCm39) |
N242D |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,316,585 (GRCm39) |
|
probably null |
Het |
| Lactb |
T |
C |
9: 66,875,045 (GRCm39) |
D349G |
possibly damaging |
Het |
| Lrp2 |
C |
T |
2: 69,355,630 (GRCm39) |
V405I |
probably benign |
Het |
| Map1b |
A |
T |
13: 99,568,338 (GRCm39) |
I1461K |
unknown |
Het |
| Mdh2 |
T |
A |
5: 135,814,879 (GRCm39) |
I116N |
probably damaging |
Het |
| Nek5 |
A |
C |
8: 22,585,285 (GRCm39) |
I364S |
probably damaging |
Het |
| Nr2c1 |
A |
T |
10: 94,026,552 (GRCm39) |
M476L |
probably damaging |
Het |
| Or10j2 |
T |
A |
1: 173,098,275 (GRCm39) |
C178S |
probably damaging |
Het |
| Or1d2 |
T |
C |
11: 74,255,810 (GRCm39) |
V105A |
possibly damaging |
Het |
| Or4k42 |
T |
C |
2: 111,319,984 (GRCm39) |
E173G |
probably benign |
Het |
| Or5w19 |
T |
C |
2: 87,698,809 (GRCm39) |
V158A |
probably benign |
Het |
| Pcdhb8 |
A |
G |
18: 37,489,029 (GRCm39) |
N236D |
probably damaging |
Het |
| Phf10 |
C |
A |
17: 15,165,396 (GRCm39) |
V487L |
probably benign |
Het |
| Pramel22 |
A |
T |
4: 143,381,887 (GRCm39) |
F270I |
probably benign |
Het |
| Ptpn3 |
G |
A |
4: 57,270,156 (GRCm39) |
T2I |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 156,994,812 (GRCm39) |
|
probably null |
Het |
| Slc24a3 |
A |
G |
2: 145,482,169 (GRCm39) |
D609G |
probably damaging |
Het |
| Slc25a40 |
A |
C |
5: 8,503,298 (GRCm39) |
*338Y |
probably null |
Het |
| Slc5a8 |
G |
T |
10: 88,740,895 (GRCm39) |
C270F |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,895,462 (GRCm39) |
D448G |
probably damaging |
Het |
| Tmem87a |
T |
C |
2: 120,216,351 (GRCm39) |
T180A |
probably benign |
Het |
| Trim30c |
A |
G |
7: 104,031,541 (GRCm39) |
S425P |
possibly damaging |
Het |
| Ubap1 |
A |
T |
4: 41,387,333 (GRCm39) |
R414S |
probably benign |
Het |
| Zfp507 |
T |
A |
7: 35,493,237 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation