Mutagenetix > Incidental Mutation

Incidental Mutation 'R0173:Vipas39'

23728

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

038445-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.606) question?

Stock #

R0173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87285642-87313030 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 87297285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137190 (fasta)

Gene Model

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

AlphaFold

Q8BGQ1

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

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 95.1%

Validation Efficiency

96% (64/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	G	A	8: 100,148,286 (GRCm39)		noncoding transcript	Het
Akt1s1	C	T	7: 44,502,284 (GRCm39)	P95S	possibly damaging	Het
Ambra1	T	C	2: 91,640,564 (GRCm39)		probably benign	Het
Aunip	T	A	4: 134,250,861 (GRCm39)	W269R	probably damaging	Het
Bmper	A	G	9: 23,136,125 (GRCm39)	M69V	probably benign	Het
Cdh2	A	T	18: 16,783,314 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,965,744 (GRCm39)	M2074T	probably benign	Het
Col14a1	C	T	15: 55,351,928 (GRCm39)	P1592S	probably damaging	Het
Csgalnact1	G	A	8: 68,913,681 (GRCm39)	R175C	probably damaging	Het
Dtx1	A	G	5: 120,820,818 (GRCm39)		probably benign	Het
Elmod3	T	C	6: 72,554,571 (GRCm39)	D154G	probably damaging	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Gab1	T	C	8: 81,526,789 (GRCm39)	D103G	possibly damaging	Het
Gon4l	A	G	3: 88,765,710 (GRCm39)	D377G	probably damaging	Het
Gramd1c	C	T	16: 43,818,196 (GRCm39)	R328K	possibly damaging	Het
Hdac3	A	G	18: 38,074,806 (GRCm39)	S312P	probably damaging	Het
Hmcn2	T	C	2: 31,328,343 (GRCm39)		probably null	Het
Intu	T	C	3: 40,629,776 (GRCm39)		probably null	Het
Lnpk	T	C	2: 74,381,409 (GRCm39)	K118R	probably damaging	Het
Lzts3	A	C	2: 130,476,688 (GRCm39)	*587G	probably null	Het
Mctp2	C	T	7: 71,896,855 (GRCm39)		probably null	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mmp23	G	T	4: 155,735,222 (GRCm39)	R374S	possibly damaging	Het
Morc3	G	A	16: 93,629,094 (GRCm39)		probably null	Het
Mymk	C	T	2: 26,952,262 (GRCm39)	A161T	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Neb	T	C	2: 52,133,859 (GRCm39)	S3375G	probably damaging	Het
Nedd1	T	C	10: 92,534,745 (GRCm39)	D255G	probably benign	Het
Nid2	T	C	14: 19,852,400 (GRCm39)		probably benign	Het
Nr1d2	A	G	14: 18,215,502 (GRCm38)		probably benign	Het
Nus1	A	G	10: 52,294,094 (GRCm39)	H86R	possibly damaging	Het
Or5b118	A	T	19: 13,449,065 (GRCm39)	I244F	probably benign	Het
Or7g17	A	G	9: 18,768,325 (GRCm39)	I135V	probably damaging	Het
Plcxd2	A	T	16: 45,785,542 (GRCm39)		probably null	Het
Prdm9	T	A	17: 15,764,275 (GRCm39)	D835V	probably benign	Het
Prdm9	A	G	17: 15,764,297 (GRCm39)	W828R	probably benign	Het
Prkd2	T	C	7: 16,582,969 (GRCm39)	S244P	probably benign	Het
Psmd4	A	T	3: 94,940,234 (GRCm39)	L159H	probably damaging	Het
Qprt	C	T	7: 126,707,543 (GRCm39)	G215E	probably damaging	Het
Rab3gap2	C	A	1: 184,982,104 (GRCm39)	H385Q	possibly damaging	Het
Rapgef5	A	G	12: 117,652,411 (GRCm39)	D300G	probably benign	Het
Rbl1	A	T	2: 157,001,605 (GRCm39)	N894K	probably benign	Het
Rgma	C	T	7: 73,067,302 (GRCm39)	R280W	probably damaging	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rundc3a	T	A	11: 102,289,071 (GRCm39)		probably benign	Het
Scaf11	A	T	15: 96,318,075 (GRCm39)	D496E	probably benign	Het
Scn9a	T	C	2: 66,363,437 (GRCm39)	Y936C	probably damaging	Het
Sdk1	A	G	5: 142,159,564 (GRCm39)		probably benign	Het
Serpinb9	G	A	13: 33,194,705 (GRCm39)	D154N	probably benign	Het
Slc48a1	A	T	15: 97,688,555 (GRCm39)	H131L	possibly damaging	Het
Slco1a6	T	C	6: 142,048,848 (GRCm39)	N311D	probably benign	Het
Sorl1	A	G	9: 41,979,229 (GRCm39)	V423A	probably damaging	Het
Srrm2	C	A	17: 24,034,103 (GRCm39)		probably benign	Het
Srsf12	A	T	4: 33,226,117 (GRCm39)	S122C	probably damaging	Het
Suclg2	G	C	6: 95,452,154 (GRCm39)		probably benign	Het
Tbpl1	A	T	10: 22,583,523 (GRCm39)	L149*	probably null	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem63a	T	C	1: 180,782,363 (GRCm39)		probably benign	Het
Tut1	C	T	19: 8,942,847 (GRCm39)	R645*	probably null	Het
Ubqln4	T	A	3: 88,462,686 (GRCm39)	D50E	probably benign	Het
Ubr5	A	G	15: 38,004,919 (GRCm39)	S1227P	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vps26b	G	A	9: 26,924,101 (GRCm39)	T214I	probably benign	Het
Xpc	A	G	6: 91,481,717 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- TGTATGGGTGGAGACTAAGCTAGGC -3'
(R):5'- GGCTAGGGCAGGCTGTATTTAAGC -3'

Sequencing Primer
(F):5'- AAGCTAGGCAGTGTCATTTCC -3'
(R):5'- GCAGGCTGTATTTAAGCTCTTAC -3'

Posted On

2013-04-16