Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03384:Vps37b'

420824

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 #

IGL03384

Quality Score

Status

Chromosome

Chromosomal Location

124142704-124170323 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 124145670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000939] [ENSMUST00000040967]

AlphaFold

Q8R0J7

Predicted Effect

probably benign
Transcript: ENSMUST00000000939

SMART Domains

Protein: ENSMUSP00000000939
Gene: ENSMUSG00000000915

Domain	Start	End	E-Value	Type
ENTH	29	151	5.27e-40	SMART
low complexity region	301	321	N/A	INTRINSIC
PDB:3I00\|B	340	458	1e-21	PDB
Pfam:HIP1_clath_bdg	461	559	1.1e-34	PFAM
low complexity region	627	633	N/A	INTRINSIC
ILWEQ	814	1012	9.19e-121	SMART
low complexity region	1016	1035	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000040967

SMART Domains

Protein: ENSMUSP00000047980
Gene: ENSMUSG00000066278

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	G	11: 72,086,673 (GRCm39)	I246T	possibly damaging	Het
Ablim2	C	T	5: 36,032,216 (GRCm39)	R614C	probably damaging	Het
B4galt7	T	C	13: 55,757,102 (GRCm39)	L265P	probably damaging	Het
Col4a4	C	T	1: 82,462,159 (GRCm39)	C1072Y	probably benign	Het
Cxcr2	T	C	1: 74,197,950 (GRCm39)	V148A	probably damaging	Het
Dnah14	G	A	1: 181,573,514 (GRCm39)	V2942M	probably benign	Het
Fam124b	T	A	1: 80,177,673 (GRCm39)	H442L	probably benign	Het
Haus6	T	C	4: 86,501,762 (GRCm39)	H703R	probably benign	Het
Ice1	T	C	13: 70,751,368 (GRCm39)	T1573A	probably benign	Het
Iftap	G	T	2: 101,415,608 (GRCm39)	T115N	probably benign	Het
Ighv1-31	A	G	12: 114,793,093 (GRCm39)	F48L	probably benign	Het
Iws1	C	A	18: 32,226,203 (GRCm39)	A697D	probably damaging	Het
Jhy	T	A	9: 40,872,228 (GRCm39)	N94Y	probably benign	Het
Kank2	C	T	9: 21,685,874 (GRCm39)	V667M	possibly damaging	Het
Mcam	G	A	9: 44,051,809 (GRCm39)		probably benign	Het
Muc5ac	A	T	7: 141,366,140 (GRCm39)	I2099F	possibly damaging	Het
Myo7a	T	C	7: 97,742,800 (GRCm39)	I410V	probably damaging	Het
Nub1	A	T	5: 24,902,425 (GRCm39)		probably benign	Het
Nub1	A	T	5: 24,902,424 (GRCm39)		probably null	Het
Or10g9b	T	C	9: 39,917,766 (GRCm39)	T160A	probably benign	Het
Panx2	C	T	15: 88,952,322 (GRCm39)	A271V	possibly damaging	Het
Papss1	T	A	3: 131,285,113 (GRCm39)	H13Q	probably damaging	Het
Pkd1	A	G	17: 24,784,871 (GRCm39)	T438A	probably benign	Het
Ppdpf	T	C	2: 180,829,673 (GRCm39)	S43P	probably benign	Het
Ptchd4	T	A	17: 42,813,481 (GRCm39)	C461S	probably damaging	Het
Rapgef2	A	G	3: 78,990,853 (GRCm39)	F985S	probably damaging	Het
Rbm25	T	C	12: 83,706,297 (GRCm39)	I214T	probably benign	Het
Sgpp1	T	C	12: 75,762,880 (GRCm39)		probably benign	Het
Slc22a20	A	T	19: 6,030,402 (GRCm39)	C343*	probably null	Het
Slc22a22	T	C	15: 57,117,612 (GRCm39)	I310V	probably benign	Het
Slc6a13	T	C	6: 121,309,350 (GRCm39)	F287S	probably damaging	Het
Usp30	A	G	5: 114,259,635 (GRCm39)	D447G	probably damaging	Het
Vmn1r78	A	T	7: 11,887,136 (GRCm39)	Y249F	possibly damaging	Het
Vmn2r106	T	C	17: 20,488,405 (GRCm39)	T665A	probably damaging	Het
Wfdc1	T	A	8: 120,413,016 (GRCm39)	N198K	probably benign	Het

Other mutations in Vps37b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Vps37b	APN	5	124,148,850 (GRCm39)	missense	probably damaging	1.00
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
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

2016-08-02