Incidental Mutation 'R6080:Vipas39'
| ID |
482895 |
| 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 |
044239-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.672)
|
| Stock # |
R6080 (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 87288727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 426
(H426L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021426]
[ENSMUST00000072744]
[ENSMUST00000179379]
[ENSMUST00000221768]
[ENSMUST00000222480]
|
| AlphaFold |
Q8BGQ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021426
AA Change: H426L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021426
Gene: ENSMUSG00000021038
AA Change: H426L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Golgin_A5
|
24 |
470 |
4.3e-147 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072744
AA Change: H445L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072527
Gene: ENSMUSG00000021038
AA Change: H445L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Golgin_A5
|
24 |
489 |
3.7e-154 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179379
AA Change: H426L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137190
Gene: ENSMUSG00000021038
AA Change: H426L
| 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 |
probably benign
Transcript: ENSMUST00000221768
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222480
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
C |
T |
14: 118,906,462 (GRCm39) |
M44I |
possibly damaging |
Het |
| Anks1b |
C |
A |
10: 90,802,211 (GRCm39) |
S1209* |
probably null |
Het |
| Atp9b |
A |
G |
18: 80,782,023 (GRCm39) |
V1039A |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,099,271 (GRCm39) |
S278P |
probably benign |
Het |
| Cep44 |
T |
C |
8: 56,992,876 (GRCm39) |
K246R |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,881,197 (GRCm39) |
D330E |
possibly damaging |
Het |
| Dnah10 |
A |
T |
5: 124,882,961 (GRCm39) |
M2940L |
possibly damaging |
Het |
| Gm14326 |
T |
A |
2: 177,578,339 (GRCm39) |
T68S |
probably benign |
Het |
| Gm4922 |
A |
C |
10: 18,660,500 (GRCm39) |
I74S |
probably damaging |
Het |
| Ints14 |
G |
A |
9: 64,874,044 (GRCm39) |
V99I |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,332,345 (GRCm39) |
S1681P |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,678,316 (GRCm39) |
E513G |
probably benign |
Het |
| Myh14 |
T |
A |
7: 44,305,035 (GRCm39) |
N252I |
probably damaging |
Het |
| Naga |
A |
G |
15: 82,219,048 (GRCm39) |
V233A |
probably benign |
Het |
| Npc1 |
C |
T |
18: 12,352,408 (GRCm39) |
C97Y |
probably damaging |
Het |
| Or4f15 |
T |
G |
2: 111,814,050 (GRCm39) |
Y123S |
probably damaging |
Het |
| Or52n4 |
T |
C |
7: 104,294,517 (GRCm39) |
I19V |
probably benign |
Het |
| Or56a3b |
T |
C |
7: 104,771,116 (GRCm39) |
F151L |
probably benign |
Het |
| Or9i2 |
C |
A |
19: 13,816,464 (GRCm39) |
L24F |
possibly damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Plag1 |
T |
C |
4: 3,903,815 (GRCm39) |
T459A |
probably benign |
Het |
| Rnase9 |
T |
C |
14: 51,276,727 (GRCm39) |
T84A |
probably benign |
Het |
| Rps6kb2 |
T |
A |
19: 4,208,671 (GRCm39) |
I282F |
probably benign |
Het |
| Smg5 |
A |
G |
3: 88,258,816 (GRCm39) |
T596A |
probably benign |
Het |
| Ugcg |
T |
C |
4: 59,218,524 (GRCm39) |
V256A |
possibly damaging |
Het |
| Vgll4 |
T |
C |
6: 114,898,299 (GRCm39) |
I21V |
probably benign |
Het |
| Vmn1r224 |
A |
G |
17: 20,639,818 (GRCm39) |
T132A |
possibly damaging |
Het |
| Zc3h18 |
A |
G |
8: 123,143,283 (GRCm39) |
|
probably benign |
Het |
| Zfp606 |
T |
A |
7: 12,228,043 (GRCm39) |
N663K |
probably damaging |
Het |
| Zfp819 |
A |
G |
7: 43,266,120 (GRCm39) |
H201R |
probably benign |
Het |
| Zfp946 |
T |
A |
17: 22,674,090 (GRCm39) |
H281Q |
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 |
|
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 |
|
|
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'- GCTGAGAATTCAATTCGGAGAC -3'
(R):5'- TGTAAAACTGTGCTTCACGTTGG -3'
Sequencing Primer
(F):5'- CCGGGAAAACAATACAGGAGTGTTG -3'
(R):5'- TGGCTTTGCAAACACGGG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation