Incidental Mutation 'R2969:Vipas39'
| ID |
256068 |
| 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: 0.672)
|
| Stock # |
R2969 (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 87289345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 373
(N373S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021426]
[ENSMUST00000072744]
[ENSMUST00000179379]
[ENSMUST00000222480]
|
| AlphaFold |
Q8BGQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021426
AA Change: N373S
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000021426
Gene: ENSMUSG00000021038
AA Change: N373S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Golgin_A5
|
24 |
470 |
4.3e-147 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072744
AA Change: N392S
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000072527
Gene: ENSMUSG00000021038
AA Change: N392S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Golgin_A5
|
24 |
489 |
3.7e-154 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179379
AA Change: N373S
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000137190
Gene: ENSMUSG00000021038
AA Change: N373S
| 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: ENSMUST00000222480
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
A |
G |
10: 69,830,225 (GRCm39) |
T137A |
probably damaging |
Het |
| Antxr2 |
A |
T |
5: 98,178,275 (GRCm39) |
L45* |
probably null |
Het |
| Armc1 |
T |
C |
3: 19,189,024 (GRCm39) |
S214G |
probably benign |
Het |
| Arsj |
T |
C |
3: 126,233,021 (GRCm39) |
I589T |
probably benign |
Het |
| C8a |
A |
G |
4: 104,710,974 (GRCm39) |
S230P |
probably damaging |
Het |
| Cnga3 |
A |
G |
1: 37,300,159 (GRCm39) |
Y331C |
probably damaging |
Het |
| Gm21976 |
A |
G |
13: 98,423,790 (GRCm39) |
Y33C |
unknown |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Gtf2i |
A |
G |
5: 134,280,746 (GRCm39) |
V556A |
probably damaging |
Het |
| Ighv8-12 |
C |
T |
12: 115,611,570 (GRCm39) |
R118Q |
probably benign |
Het |
| Ing4 |
A |
G |
6: 125,024,288 (GRCm39) |
K131E |
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,818,317 (GRCm39) |
R139S |
probably damaging |
Het |
| Nap1l2 |
A |
T |
X: 102,229,254 (GRCm39) |
D221E |
probably benign |
Het |
| Nepn |
A |
T |
10: 52,276,983 (GRCm39) |
R179* |
probably null |
Het |
| Nrxn3 |
G |
A |
12: 89,321,241 (GRCm39) |
C383Y |
probably damaging |
Het |
| Pfpl |
G |
T |
19: 12,406,907 (GRCm39) |
R386L |
probably benign |
Het |
| Rere |
A |
G |
4: 150,654,673 (GRCm39) |
K402E |
unknown |
Het |
| Serpina3n |
C |
T |
12: 104,375,333 (GRCm39) |
T135M |
probably benign |
Het |
| Slc43a1 |
C |
T |
2: 84,687,679 (GRCm39) |
T395I |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Vmn1r128 |
T |
A |
7: 21,084,046 (GRCm39) |
V250D |
probably damaging |
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 |
|
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'- TTCTATGTCAGGCCTCGCAC -3'
(R):5'- CCATGCATTACTGTCAAGATCAAAGAC -3'
Sequencing Primer
(F):5'- CTCGCACAGCCACAGTG -3'
(R):5'- ATATGTCTTACTCTTTTCTCCCCTC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation