Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00839:Vps37b'

14811

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 #

IGL00839

Quality Score

Status

Chromosome

Chromosomal Location

124142704-124170323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124148814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 74 (T74A)

Ref Sequence

ENSEMBL: ENSMUSP00000047980 (fasta)

Gene Model

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

AlphaFold

Q8R0J7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040967
AA Change: T74A

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047980
Gene: ENSMUSG00000066278
AA Change: T74A

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,382,873 (GRCm39)	S1031T	probably benign	Het
a	T	A	2: 154,887,593 (GRCm39)	F18I	probably benign	Het
Acsl4	A	T	X: 141,122,948 (GRCm39)	N421K	possibly damaging	Het
Ampd1	A	G	3: 103,007,010 (GRCm39)	E745G	possibly damaging	Het
Ankrd44	T	C	1: 54,706,594 (GRCm39)	N436D	probably benign	Het
Ap1s2	A	G	X: 162,709,951 (GRCm39)	Y160C	probably damaging	Het
Bms1	C	T	6: 118,382,252 (GRCm39)	V429M	probably benign	Het
Cep57l1	T	C	10: 41,607,089 (GRCm39)	E158G	probably damaging	Het
Cldn34b4	T	A	X: 75,440,955 (GRCm39)	C71S	probably damaging	Het
Col1a2	C	T	6: 4,531,095 (GRCm39)		probably benign	Het
Crisp3	T	G	17: 40,550,147 (GRCm39)		probably null	Het
Dbt	G	A	3: 116,339,763 (GRCm39)	G384S	probably benign	Het
Defa24	T	A	8: 22,224,713 (GRCm39)	L54H	probably damaging	Het
Dennd1a	A	G	2: 37,706,994 (GRCm39)	V504A	probably benign	Het
Eloa	G	A	4: 135,738,670 (GRCm39)	R97C	probably damaging	Het
Espl1	T	C	15: 102,228,982 (GRCm39)		probably benign	Het
Fgb	T	A	3: 82,950,598 (GRCm39)	R385S	possibly damaging	Het
Glod4	T	A	11: 76,124,104 (GRCm39)	H223L	probably benign	Het
Hrh1	C	T	6: 114,457,283 (GRCm39)	T188I	probably damaging	Het
Hsph1	G	T	5: 149,541,919 (GRCm39)	A769D	possibly damaging	Het
Jak2	C	T	19: 29,279,047 (GRCm39)	P933S	probably damaging	Het
Lrrd1	T	A	5: 3,900,017 (GRCm39)	D107E	probably benign	Het
Osbpl8	T	A	10: 111,127,371 (GRCm39)	S776R	probably benign	Het
Pcna	C	T	2: 132,093,340 (GRCm39)	V136I	probably benign	Het
Pde11a	A	G	2: 76,045,729 (GRCm39)	F365S	probably damaging	Het
Pi15	A	G	1: 17,691,747 (GRCm39)	H183R	probably damaging	Het
Plce1	A	G	19: 38,687,006 (GRCm39)	Y638C	probably damaging	Het
Pnpla6	A	G	8: 3,592,299 (GRCm39)	D1196G	probably benign	Het
Pramel26	T	C	4: 143,539,293 (GRCm39)	T67A	probably benign	Het
Psg22	A	G	7: 18,456,893 (GRCm39)	I220V	probably benign	Het
Rap1gap2	A	T	11: 74,328,274 (GRCm39)	Y97N	probably damaging	Het
Taf2	A	T	15: 54,909,174 (GRCm39)	C690*	probably null	Het
Taf3	A	T	2: 9,957,728 (GRCm39)	D146E	probably damaging	Het
Tnrc6c	A	G	11: 117,605,011 (GRCm39)	T49A	possibly damaging	Het
Trdn	T	C	10: 33,347,602 (GRCm39)		probably null	Het
Ttc29	C	T	8: 79,060,385 (GRCm39)	T435I	probably benign	Het
Zbtb11	T	A	16: 55,820,965 (GRCm39)	Y687*	probably null	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
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

2012-12-06