Incidental Mutation 'R6896:Vipas39'
| ID |
538349 |
| 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 |
044990-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.606)
|
| Stock # |
R6896 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
| Validation Efficiency |
98% (49/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
T |
C |
6: 58,660,298 (GRCm39) |
L454P |
probably damaging |
Het |
| Acadm |
T |
C |
3: 153,641,957 (GRCm39) |
I192V |
probably damaging |
Het |
| Acadsb |
T |
A |
7: 131,045,375 (GRCm39) |
Y436N |
probably benign |
Het |
| Ache |
G |
A |
5: 137,289,996 (GRCm39) |
V442M |
probably damaging |
Het |
| Adam39 |
A |
T |
8: 41,277,975 (GRCm39) |
N122I |
possibly damaging |
Het |
| Akap6 |
A |
T |
12: 52,934,277 (GRCm39) |
I590F |
probably benign |
Het |
| Akap8 |
T |
C |
17: 32,536,305 (GRCm39) |
N36S |
probably benign |
Het |
| Asap2 |
T |
C |
12: 21,315,526 (GRCm39) |
S933P |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,527,864 (GRCm39) |
|
probably null |
Het |
| Cdon |
T |
A |
9: 35,363,402 (GRCm39) |
M1K |
probably null |
Het |
| Cemip |
T |
A |
7: 83,647,784 (GRCm39) |
I99F |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,416,421 (GRCm39) |
T565A |
possibly damaging |
Het |
| Cfap58 |
T |
G |
19: 47,932,626 (GRCm39) |
L130R |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,514,462 (GRCm39) |
D415G |
probably damaging |
Het |
| Coch |
A |
G |
12: 51,649,652 (GRCm39) |
D321G |
possibly damaging |
Het |
| Dync2i1 |
C |
T |
12: 116,193,291 (GRCm39) |
G554R |
possibly damaging |
Het |
| Efcab11 |
A |
G |
12: 99,849,674 (GRCm39) |
|
probably benign |
Het |
| Ermap |
G |
T |
4: 119,044,328 (GRCm39) |
S156* |
probably null |
Het |
| Fap |
G |
T |
2: 62,334,944 (GRCm39) |
Y620* |
probably null |
Het |
| Galntl5 |
T |
C |
5: 25,394,947 (GRCm39) |
|
probably null |
Het |
| Il21r |
C |
A |
7: 125,226,128 (GRCm39) |
H76N |
probably damaging |
Het |
| Itpr1 |
T |
G |
6: 108,458,355 (GRCm39) |
Y2041D |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,029,357 (GRCm39) |
N300K |
probably benign |
Het |
| Muc2 |
G |
A |
7: 141,306,432 (GRCm39) |
V285I |
possibly damaging |
Het |
| Myh15 |
A |
T |
16: 48,933,434 (GRCm39) |
Q623L |
probably benign |
Het |
| Myh7b |
T |
C |
2: 155,464,488 (GRCm39) |
|
probably null |
Het |
| Naaladl1 |
T |
A |
19: 6,159,335 (GRCm39) |
|
probably null |
Het |
| Nlrp9b |
T |
G |
7: 19,757,170 (GRCm39) |
F136V |
probably damaging |
Het |
| Oprd1 |
A |
T |
4: 131,844,612 (GRCm39) |
M132K |
probably damaging |
Het |
| Or10a3b |
T |
C |
7: 108,444,750 (GRCm39) |
T156A |
probably benign |
Het |
| Or4s2b |
A |
G |
2: 88,508,340 (GRCm39) |
N47S |
probably damaging |
Het |
| Or6c70 |
A |
T |
10: 129,710,623 (GRCm39) |
M1K |
probably null |
Het |
| Or9g4 |
A |
G |
2: 85,505,277 (GRCm39) |
Y73H |
probably damaging |
Het |
| Patj |
T |
A |
4: 98,314,287 (GRCm39) |
V369D |
possibly damaging |
Het |
| Pcdhb3 |
T |
C |
18: 37,434,265 (GRCm39) |
L77P |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,298,759 (GRCm39) |
D1259G |
probably damaging |
Het |
| Pdcl |
A |
T |
2: 37,242,191 (GRCm39) |
H186Q |
probably damaging |
Het |
| Pdzd9 |
A |
T |
7: 120,262,095 (GRCm39) |
*77R |
probably null |
Het |
| Reln |
C |
T |
5: 22,104,177 (GRCm39) |
E3265K |
probably benign |
Het |
| Smg8 |
T |
C |
11: 86,968,787 (GRCm39) |
T990A |
possibly damaging |
Het |
| Smok2a |
C |
T |
17: 13,444,758 (GRCm39) |
H112Y |
probably benign |
Het |
| Spatc1l |
G |
A |
10: 76,405,242 (GRCm39) |
R208H |
probably damaging |
Het |
| Taf7 |
T |
C |
18: 37,775,733 (GRCm39) |
D278G |
possibly damaging |
Het |
| Vmn2r78 |
C |
T |
7: 86,571,558 (GRCm39) |
T456I |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,543,157 (GRCm39) |
S148P |
probably damaging |
Het |
| Xpot |
A |
C |
10: 121,449,390 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
A |
T |
1: 63,348,031 (GRCm39) |
R2137W |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,009,544 (GRCm39) |
N503K |
possibly damaging |
Het |
| Zfp641 |
T |
A |
15: 98,191,684 (GRCm39) |
M1L |
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 |
|
|
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 |
|
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'- CAGACTGTTTCCATGCATTACTGTC -3'
Sequencing Primer
(F):5'- CTCGCACAGCCACAGTG -3'
(R):5'- TGCATTACTGTCAAGATCAAAGACC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation