Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02026:Vipas39'

184187

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

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.510) question?

Stock #

IGL02026

Quality Score

Status

Chromosome

Chromosomal Location

87238868-87266256 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 87251709 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137190 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021426] [ENSMUST00000072744] [ENSMUST00000179379]

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

SMART Domains

Protein: ENSMUSP00000072527
Gene: ENSMUSG00000021038

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: 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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	T	14: 68,571,802	V237E	possibly damaging	Het
Amh	T	C	10: 80,805,408	L54P	probably damaging	Het
Aoc3	T	C	11: 101,337,595	S743P	probably benign	Het
Arhgap23	T	A	11: 97,451,581	W19R	probably damaging	Het
Atm	C	T	9: 53,442,417		probably null	Het
BC100530	C	A	16: 36,367,486	V6F	possibly damaging	Het
Ccdc47	T	C	11: 106,205,027	E281G	probably damaging	Het
Col7a1	A	C	9: 108,968,029	K1650N	probably damaging	Het
Evi2b	T	C	11: 79,515,787	S321G	probably damaging	Het
Fancm	T	G	12: 65,105,734	V988G	probably benign	Het
Gbp2	A	G	3: 142,633,480	Y431C	probably damaging	Het
Gclc	T	C	9: 77,792,060	V530A	probably benign	Het
Gm4985	T	G	X: 23,957,994	H314P	probably damaging	Het
Gm5885	T	C	6: 133,531,328		noncoding transcript	Het
Hlcs	A	T	16: 94,134,705	I576N	probably damaging	Het
Hnrnpul1	A	T	7: 25,745,162	F240L	probably damaging	Het
Itgb6	C	A	2: 60,628,066	V448F	possibly damaging	Het
Lama1	A	G	17: 67,809,292	T2385A	possibly damaging	Het
Lamc2	C	T	1: 153,144,736		probably benign	Het
Lrrc32	C	T	7: 98,499,560	R516C	probably benign	Het
Lrrtm3	T	C	10: 64,088,452	N312S	probably damaging	Het
Ltbp4	G	A	7: 27,327,417	R468*	probably null	Het
Man1a	T	C	10: 54,014,473	E373G	probably damaging	Het
Myo1h	A	T	5: 114,323,444	Q250L	probably null	Het
Myo9a	T	C	9: 59,905,962	V2077A	probably damaging	Het
Olfr114	A	G	17: 37,589,407		probably benign	Het
Otud5	C	T	X: 7,871,993		probably benign	Het
Pcsk1	A	G	13: 75,112,653	S332G	probably benign	Het
Pde8b	A	G	13: 95,034,361	V549A	probably damaging	Het
Pgap1	A	T	1: 54,494,819	M645K	probably benign	Het
Pm20d1	A	T	1: 131,801,759	R175*	probably null	Het
Polr2b	A	G	5: 77,332,252	N585S	probably benign	Het
Recql	T	A	6: 142,366,668	K41*	probably null	Het
Sccpdh	A	T	1: 179,678,069	H138L	possibly damaging	Het
Sec31a	A	T	5: 100,369,626	S951T	probably benign	Het
Slc44a4	A	T	17: 34,921,856		probably benign	Het
Tchhl1	G	T	3: 93,470,555	A189S	probably damaging	Het
Tdrd12	G	A	7: 35,504,233		probably benign	Het
Trbv12-1	A	G	6: 41,113,994	D100G	probably damaging	Het
Ttll13	T	A	7: 80,260,379	S757T	probably benign	Het
Vmn1r64	G	A	7: 5,883,650	P298L	possibly damaging	Het
Vmn1r81	A	G	7: 12,260,505	S59P	probably damaging	Het
Vsx1	A	T	2: 150,688,527	V145D	probably benign	Het
Wdfy4	T	A	14: 33,093,300	N1586I	probably damaging	Het
Zan	T	A	5: 137,405,464		probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zzef1	T	A	11: 72,881,338	M1707K	probably benign	Het

Other mutations in Vipas39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Vipas39	APN	12	87249397	missense	probably benign	0.03
IGL01418:Vipas39	APN	12	87249397	missense	probably benign	0.03
IGL03089:Vipas39	APN	12	87253254	missense	probably damaging	1.00
R0173:Vipas39	UTSW	12	87250511	splice site	probably benign
R0909:Vipas39	UTSW	12	87241331	missense	probably benign	0.21
R1505:Vipas39	UTSW	12	87246160	missense	probably damaging	1.00
R2897:Vipas39	UTSW	12	87242523	missense	possibly damaging	0.78
R2968:Vipas39	UTSW	12	87242571	missense	probably benign	0.45
R2969:Vipas39	UTSW	12	87242571	missense	probably benign	0.45
R2970:Vipas39	UTSW	12	87242571	missense	probably benign	0.45
R4622:Vipas39	UTSW	12	87244543	missense	probably damaging	1.00
R4676:Vipas39	UTSW	12	87241301	missense	probably damaging	1.00
R5181:Vipas39	UTSW	12	87239827	missense	probably damaging	1.00
R5188:Vipas39	UTSW	12	87254247	missense	probably benign	0.21
R5881:Vipas39	UTSW	12	87251807	nonsense	probably null
R6080:Vipas39	UTSW	12	87241953	missense	probably damaging	1.00
R6425:Vipas39	UTSW	12	87241289	missense	probably damaging	0.98
R6896:Vipas39	UTSW	12	87242571	missense	probably benign	0.45
R7438:Vipas39	UTSW	12	87241931	splice site	probably null
R7538:Vipas39	UTSW	12	87263903	critical splice donor site	probably null

Posted On

2014-05-07