Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02685:Vps37b'

303520

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 #

IGL02685

Quality Score

Status

Chromosome

Chromosomal Location

124142704-124170323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124148874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 54 (S54G)

Ref Sequence

ENSEMBL: ENSMUSP00000047980 (fasta)

Gene Model

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

AlphaFold

Q8R0J7

Predicted Effect

probably damaging
Transcript: ENSMUST00000040967
AA Change: S54G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047980
Gene: ENSMUSG00000066278
AA Change: S54G

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,869,682 (GRCm39)	Y779C	probably damaging	Het
Acad10	A	G	5: 121,770,672 (GRCm39)	F532L	probably benign	Het
Adgrb3	A	T	1: 25,123,323 (GRCm39)		probably null	Het
Akr1d1	T	C	6: 37,507,278 (GRCm39)		probably benign	Het
Aqp11	A	G	7: 97,386,759 (GRCm39)	Y146H	probably damaging	Het
Cdh2	A	T	18: 16,779,557 (GRCm39)	L168Q	probably damaging	Het
Ces2f	C	T	8: 105,679,730 (GRCm39)	Q277*	probably null	Het
Cmya5	G	A	13: 93,227,505 (GRCm39)	Q2528*	probably null	Het
Col22a1	A	G	15: 71,673,764 (GRCm39)	V984A	unknown	Het
Col5a3	T	C	9: 20,683,501 (GRCm39)	D1557G	unknown	Het
Cpb1	A	T	3: 20,319,520 (GRCm39)	V188E	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Ephb1	G	T	9: 101,918,302 (GRCm39)	Y402*	probably null	Het
Foxm1	T	C	6: 128,350,070 (GRCm39)	L319S	possibly damaging	Het
Gmppb	T	C	9: 107,927,118 (GRCm39)		probably benign	Het
Grid2	T	G	6: 64,322,800 (GRCm39)	M600R	possibly damaging	Het
Gstm6	T	C	3: 107,848,507 (GRCm39)	K57E	probably benign	Het
Hars2	T	G	18: 36,924,171 (GRCm39)	S422A	probably benign	Het
Igdcc4	T	C	9: 65,041,107 (GRCm39)	M1092T	possibly damaging	Het
Ighv13-1	C	A	12: 114,231,403 (GRCm39)		probably benign	Het
Iqgap2	C	A	13: 95,807,912 (GRCm39)	R785L	probably damaging	Het
Kalrn	G	A	16: 34,334,329 (GRCm39)	Q8*	probably null	Het
Mms22l	A	G	4: 24,591,133 (GRCm39)	T1035A	probably benign	Het
Myo1b	A	G	1: 51,817,658 (GRCm39)	Y535H	probably damaging	Het
Neb	T	A	2: 52,065,313 (GRCm39)	K6234N	possibly damaging	Het
Nlrp9c	A	G	7: 26,084,982 (GRCm39)	I199T	probably damaging	Het
Or10ak7	A	T	4: 118,791,134 (GRCm39)	F304I	possibly damaging	Het
Or4c108	T	A	2: 88,803,365 (GRCm39)	N290I	possibly damaging	Het
Or52h9	C	A	7: 104,202,357 (GRCm39)	T77K	probably benign	Het
Or7g32	T	C	9: 19,408,098 (GRCm39)	I18T	probably benign	Het
Osmr	T	C	15: 6,845,054 (GRCm39)	E904G	probably benign	Het
Pde8b	T	C	13: 95,162,628 (GRCm39)	*831W	probably null	Het
Prkdc	T	C	16: 15,653,907 (GRCm39)	V3888A	possibly damaging	Het
Scn9a	C	A	2: 66,367,637 (GRCm39)	S693I	probably damaging	Het
Sepsecs	T	C	5: 52,804,534 (GRCm39)	T379A	probably benign	Het
Ska1	T	A	18: 74,330,119 (GRCm39)	H207L	probably benign	Het
Slc17a9	C	A	2: 180,375,602 (GRCm39)	Q175K	probably damaging	Het
Slc38a2	G	A	15: 96,589,306 (GRCm39)	T396I	probably benign	Het
Slc9a4	A	C	1: 40,668,742 (GRCm39)	H795P	probably benign	Het
Sorbs2	C	T	8: 46,256,877 (GRCm39)	T955I	probably benign	Het
Spata4	A	T	8: 55,053,963 (GRCm39)	H43L	probably benign	Het
Ss18l2	G	A	9: 121,539,484 (GRCm39)	A6T	possibly damaging	Het
Sult1e1	C	T	5: 87,727,765 (GRCm39)	W172*	probably null	Het
Tlcd1	T	C	11: 78,070,363 (GRCm39)		probably benign	Het
Tmc8	T	C	11: 117,683,400 (GRCm39)	S652P	probably damaging	Het
Wdr26	A	T	1: 181,011,345 (GRCm39)	S511T	possibly damaging	Het
Zfhx4	A	G	3: 5,477,213 (GRCm39)	Y3251C	probably damaging	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
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

2015-04-16