Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00435:Vps37b'

6390

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vps37b

Ensembl Gene

ENSMUSG00000066278

Gene Name

vacuolar protein sorting 37B

Synonyms

2300007F24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

IGL00435

Quality Score

Status

Chromosome

Chromosomal Location

124142704-124170323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124148850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 62 (Y62H)

Ref Sequence

ENSEMBL: ENSMUSP00000047980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040967]

AlphaFold

Q8R0J7

Predicted Effect

probably damaging
Transcript: ENSMUST00000040967
AA Change: Y62H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000047980
Gene: ENSMUSG00000066278
AA Change: Y62H

Domain	Start	End	E-Value	Type
Pfam:Mod_r	11	156	3.9e-40	PFAM
low complexity region	170	188	N/A	INTRINSIC
low complexity region	200	215	N/A	INTRINSIC
low complexity region	262	280	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192309

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199306

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap28	A	T	17: 68,152,796 (GRCm39)	D657E	probably damaging	Het
Cd200l1	A	T	16: 45,264,483 (GRCm39)	L25Q	probably damaging	Het
Cd68	T	C	11: 69,556,676 (GRCm39)	T44A	probably damaging	Het
Cecr2	C	T	6: 120,733,678 (GRCm39)	T555M	probably damaging	Het
Cep170b	A	G	12: 112,701,628 (GRCm39)	Q169R	probably damaging	Het
Cs	T	C	10: 128,195,912 (GRCm39)	F374L	probably damaging	Het
Dpy19l1	T	C	9: 24,393,226 (GRCm39)	E181G	probably damaging	Het
Efcab12	T	C	6: 115,800,625 (GRCm39)	T133A	probably benign	Het
Esr2	G	A	12: 76,180,653 (GRCm39)	R423W	probably damaging	Het
Eya4	T	C	10: 23,034,995 (GRCm39)	Y120C	probably benign	Het
Fbxw8	A	G	5: 118,206,202 (GRCm39)	M582T	probably benign	Het
Fcgbpl1	A	T	7: 27,863,953 (GRCm39)	D2575V	probably damaging	Het
Ghsr	A	G	3: 27,426,532 (GRCm39)	E196G	possibly damaging	Het
Gm10024	G	A	10: 77,547,295 (GRCm39)		probably benign	Het
Gpr65	A	G	12: 98,241,815 (GRCm39)	E156G	probably damaging	Het
Gtf3c3	T	C	1: 54,466,694 (GRCm39)	Y249C	possibly damaging	Het
H2-T23	G	A	17: 36,342,673 (GRCm39)	A155V	probably damaging	Het
Hadha	A	G	5: 30,327,171 (GRCm39)	S556P	probably benign	Het
Hdac7	T	A	15: 97,707,376 (GRCm39)	K187N	probably damaging	Het
Inpp5j	T	C	11: 3,452,255 (GRCm39)	I332V	probably benign	Het
Kank1	A	G	19: 25,407,600 (GRCm39)	D1198G	probably benign	Het
Kdr	A	G	5: 76,129,410 (GRCm39)	L159P	probably damaging	Het
Me2	T	C	18: 73,903,713 (GRCm39)	E585G	probably benign	Het
Nfu1	A	T	6: 86,992,577 (GRCm39)	T64S	probably damaging	Het
Nsd3	A	G	8: 26,166,728 (GRCm39)	D632G	probably benign	Het
Pcna	T	C	2: 132,093,852 (GRCm39)	D97G	probably benign	Het
Pgm2	A	G	5: 64,265,612 (GRCm39)		probably benign	Het
Phactr1	C	A	13: 43,110,122 (GRCm39)	R2S	probably damaging	Het
Psmd11	T	A	11: 80,361,210 (GRCm39)	I347N	possibly damaging	Het
Rad21l	T	C	2: 151,495,436 (GRCm39)	T416A	probably benign	Het
Ruvbl2	A	T	7: 45,074,596 (GRCm39)	S181T	probably benign	Het
Rxrb	A	G	17: 34,253,049 (GRCm39)	T109A	probably damaging	Het
Ryr3	T	A	2: 112,490,494 (GRCm39)	Y3785F	probably damaging	Het
Sec16a	T	C	2: 26,320,113 (GRCm39)	T1442A	probably benign	Het
Slc6a14	T	A	X: 21,600,363 (GRCm39)		probably benign	Het
Slco2b1	G	A	7: 99,309,259 (GRCm39)	Q691*	probably null	Het
Tent5c	A	G	3: 100,380,672 (GRCm39)	V28A	probably damaging	Het
Them5	A	G	3: 94,253,496 (GRCm39)	T169A	possibly damaging	Het
Trav13-2	T	C	14: 53,872,688 (GRCm39)	F55L	possibly damaging	Het
Tst	A	T	15: 78,289,661 (GRCm39)	S125T	probably damaging	Het
Ttn	T	C	2: 76,630,868 (GRCm39)	T14179A	probably benign	Het

Other mutations in Vps37b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Vps37b	APN	5	124,148,814 (GRCm39)	missense	possibly damaging	0.83
IGL02685:Vps37b	APN	5	124,148,874 (GRCm39)	missense	probably damaging	1.00
IGL03384:Vps37b	APN	5	124,145,670 (GRCm39)	critical splice donor site	probably null
R4499:Vps37b	UTSW	5	124,145,689 (GRCm39)	missense	probably damaging	0.99
R4667:Vps37b	UTSW	5	124,148,795 (GRCm39)	missense	probably damaging	1.00
R4776:Vps37b	UTSW	5	124,144,675 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20