Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03308:Vps26b'

416446

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vps26b

Ensembl Gene

ENSMUSG00000031988

Gene Name

VPS26 retromer complex component B

Synonyms

2310075A12Rik, 1810012I05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03308

Quality Score

Status

Chromosome

Chromosomal Location

26919067-26941361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26940796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 41 (Y41C)

Ref Sequence

ENSEMBL: ENSMUSP00000034470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034470] [ENSMUST00000073127] [ENSMUST00000086198] [ENSMUST00000216677]

AlphaFold

Q8C0E2

PDB Structure

Crystal Structure of mouse Vps26B [X-RAY DIFFRACTION]
Crystal structure of mouse VPS26B in spacegroup P41 21 2 [X-RAY DIFFRACTION]
Crystal structure of mouse VPS26B(L197S/R199E) in spacegroup P41 21 2 [X-RAY DIFFRACTION]
Crystal structure of mouse VPS26B(R240S/G241A/E242S) in spacegroup P41 21 2 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034470
AA Change: Y41C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034470
Gene: ENSMUSG00000031988
AA Change: Y41C

Domain	Start	End	E-Value	Type
Pfam:Vps26	6	281	1e-135	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000073127

SMART Domains

Protein: ENSMUSP00000072871
Gene: ENSMUSG00000035024

Domain	Start	End	E-Value	Type
low complexity region	159	170	N/A	INTRINSIC
low complexity region	173	184	N/A	INTRINSIC
Pfam:Cnd1	949	1148	1.7e-46	PFAM
low complexity region	1192	1200	N/A	INTRINSIC
coiled coil region	1213	1270	N/A	INTRINSIC
low complexity region	1290	1315	N/A	INTRINSIC
low complexity region	1393	1410	N/A	INTRINSIC
low complexity region	1485	1498	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000086198

SMART Domains

Protein: ENSMUSP00000083374
Gene: ENSMUSG00000035024

Domain	Start	End	E-Value	Type
low complexity region	159	170	N/A	INTRINSIC
low complexity region	173	184	N/A	INTRINSIC
Pfam:Cohesin_HEAT	536	560	4.6e-5	PFAM
Pfam:Cnd1	949	1148	6.6e-59	PFAM
low complexity region	1192	1200	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215598

Predicted Effect

probably benign
Transcript: ENSMUST00000216677

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217311

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal behavior, growth, and health. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	C	4: 144,182,821 (GRCm39)	I216V	probably damaging	Het
Abcc1	A	G	16: 14,288,475 (GRCm39)	I1367V	possibly damaging	Het
Ap1g2	T	A	14: 55,342,333 (GRCm39)	I175F	probably benign	Het
Atad2	A	G	15: 57,965,919 (GRCm39)	V671A	probably benign	Het
Ccdc134	A	G	15: 82,015,721 (GRCm39)	D67G	probably damaging	Het
Cdk17	G	A	10: 93,057,506 (GRCm39)		probably null	Het
Col3a1	A	G	1: 45,369,777 (GRCm39)		probably benign	Het
Col5a3	A	G	9: 20,719,675 (GRCm39)	L228P	unknown	Het
Eef1a2	A	G	2: 180,790,629 (GRCm39)		probably benign	Het
Fars2	T	G	13: 36,388,670 (GRCm39)	I53R	possibly damaging	Het
Frmd4a	G	T	2: 4,502,837 (GRCm39)	A98S	possibly damaging	Het
Gprin1	T	A	13: 54,887,957 (GRCm39)	M106L	probably benign	Het
Hspb8	T	C	5: 116,547,401 (GRCm39)	T194A	possibly damaging	Het
Ift27	A	G	15: 78,050,215 (GRCm39)	S65P	probably damaging	Het
Inpp5d	A	C	1: 87,630,919 (GRCm39)	Y430S	probably damaging	Het
Kat6b	T	C	14: 21,674,902 (GRCm39)	S356P	probably damaging	Het
Limch1	C	T	5: 67,159,901 (GRCm39)	T443M	possibly damaging	Het
Mcf2l	C	T	8: 13,059,512 (GRCm39)	R708C	probably damaging	Het
Mlf1	T	C	3: 67,305,140 (GRCm39)	W214R	probably damaging	Het
Naga	A	T	15: 82,220,088 (GRCm39)	L153Q	probably damaging	Het
Nbas	A	G	12: 13,374,349 (GRCm39)	Q559R	possibly damaging	Het
Or2ab1	T	C	11: 58,488,525 (GRCm39)	F101S	probably damaging	Het
Or2t6	T	A	14: 14,175,161 (GRCm38)	H307L	probably benign	Het
Prex2	A	G	1: 11,255,399 (GRCm39)	D1148G	possibly damaging	Het
Prss23	A	C	7: 89,158,938 (GRCm39)	L377R	probably benign	Het
Ptprc	G	T	1: 138,054,058 (GRCm39)	T27K	possibly damaging	Het
Rnf213	A	G	11: 119,364,998 (GRCm39)	T4553A	probably benign	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Skint3	T	C	4: 112,111,264 (GRCm39)	F130L	probably damaging	Het
Slc8a1	A	G	17: 81,749,624 (GRCm39)		probably benign	Het
Stau1	T	C	2: 166,792,240 (GRCm39)	N433D	probably damaging	Het
Tapbpl	G	A	6: 125,205,142 (GRCm39)	A268V	possibly damaging	Het
Tmem131l	T	C	3: 83,848,209 (GRCm39)	I314V	probably benign	Het
Tmem44	A	G	16: 30,362,566 (GRCm39)	W151R	probably damaging	Het
Tnnc1	T	C	14: 30,931,798 (GRCm39)		probably benign	Het
Traf5	T	G	1: 191,729,461 (GRCm39)	N530T	probably damaging	Het
Ttn	A	G	2: 76,576,907 (GRCm39)	I24662T	probably damaging	Het
Vmn1r49	A	T	6: 90,049,341 (GRCm39)	H220Q	possibly damaging	Het
Vmn2r106	A	T	17: 20,498,785 (GRCm39)	C375*	probably null	Het
Wdr64	T	C	1: 175,594,562 (GRCm39)		probably benign	Het
Xylt1	C	T	7: 117,236,978 (GRCm39)	Q576*	probably null	Het
Zfp106	T	C	2: 120,354,505 (GRCm39)	D1422G	probably benign	Het

Other mutations in Vps26b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0173:Vps26b	UTSW	9	26,924,101 (GRCm39)	missense	probably benign	0.07
R0947:Vps26b	UTSW	9	26,924,077 (GRCm39)	missense	probably damaging	1.00
R1515:Vps26b	UTSW	9	26,924,041 (GRCm39)	missense	probably damaging	1.00
R4700:Vps26b	UTSW	9	26,926,511 (GRCm39)	missense	probably damaging	0.96
R4777:Vps26b	UTSW	9	26,921,752 (GRCm39)	missense	possibly damaging	0.92
R6528:Vps26b	UTSW	9	26,921,762 (GRCm39)	missense	probably benign
R6765:Vps26b	UTSW	9	26,924,104 (GRCm39)	missense	probably damaging	1.00
R6841:Vps26b	UTSW	9	26,921,760 (GRCm39)	missense	probably benign	0.10
R6933:Vps26b	UTSW	9	26,926,613 (GRCm39)	missense	possibly damaging	0.93
R7209:Vps26b	UTSW	9	26,921,288 (GRCm39)	missense	probably benign	0.00
R7761:Vps26b	UTSW	9	26,940,826 (GRCm39)	missense	probably benign	0.20
R9134:Vps26b	UTSW	9	26,921,225 (GRCm39)	missense	probably benign
R9326:Vps26b	UTSW	9	26,930,627 (GRCm39)	missense	probably damaging	0.96
R9327:Vps26b	UTSW	9	26,930,750 (GRCm39)	missense	probably benign	0.43
X0060:Vps26b	UTSW	9	26,940,779 (GRCm39)	missense	probably benign

Posted On

2016-08-02