Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02103:Stom'

279840

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stom

Ensembl Gene

ENSMUSG00000026880

Gene Name

stomatin

Synonyms

Epb7.2, stomatin, protein 7.2b

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02103

Quality Score

Status

Chromosome

Chromosomal Location

35203998-35226988 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35210401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 201 (V201E)

Ref Sequence

ENSEMBL: ENSMUSP00000028241 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028241]

AlphaFold

P54116

PDB Structure

SPFH domain of mouse stomatin (Crystal form 1) [X-RAY DIFFRACTION]
SPFH domain of mouse stomatin (Crystal form 3) [X-RAY DIFFRACTION]
SPFH domain of the mouse stomatin (Crystal form 2) [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000028241
AA Change: V201E

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000028241
Gene: ENSMUSG00000026880
AA Change: V201E

Domain	Start	End	E-Value	Type
PHB	52	211	1.11e-66	SMART
Blast:PHB	229	284	2e-27	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202568

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygotes for a targeted null mutation lack the protein but appear phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	G	A	12: 84,659,138 (GRCm39)	T206M	probably benign	Het
Adcy3	T	A	12: 4,184,390 (GRCm39)	V22D	possibly damaging	Het
Alb	G	A	5: 90,611,990 (GRCm39)	E140K	probably benign	Het
Aph1a	G	A	3: 95,803,125 (GRCm39)	V193I	probably damaging	Het
Asb2	G	A	12: 103,299,755 (GRCm39)	R178*	probably null	Het
Celf3	A	T	3: 94,394,108 (GRCm39)	Q137L	probably damaging	Het
Cmya5	T	C	13: 93,228,635 (GRCm39)	D2151G	probably benign	Het
Cuedc1	T	A	11: 88,079,625 (GRCm39)	S353T	probably damaging	Het
Dlg5	A	C	14: 24,194,414 (GRCm39)	L1709R	probably damaging	Het
Dst	T	C	1: 34,229,199 (GRCm39)	I1939T	possibly damaging	Het
Emx2	A	T	19: 59,450,130 (GRCm39)	N149I	probably benign	Het
Fancm	A	G	12: 65,142,558 (GRCm39)	D472G	probably benign	Het
Fasn	T	C	11: 120,702,762 (GRCm39)	Y1700C	probably damaging	Het
Fat2	T	A	11: 55,180,122 (GRCm39)	R1406S	probably damaging	Het
Fat4	C	A	3: 38,943,348 (GRCm39)	T747K	probably damaging	Het
Fer	A	G	17: 64,445,923 (GRCm39)	M795V	probably benign	Het
Gm5916	A	G	9: 36,039,970 (GRCm39)	L6P	probably damaging	Het
Gpr139	A	G	7: 118,744,355 (GRCm39)	F77L	possibly damaging	Het
Kcnu1	T	C	8: 26,395,976 (GRCm39)	S654P	possibly damaging	Het
Kdm5c	T	A	X: 151,031,762 (GRCm39)	F408L	probably damaging	Het
Kel	A	G	6: 41,679,323 (GRCm39)	S147P	probably benign	Het
Klra5	A	T	6: 129,888,307 (GRCm39)		probably null	Het
Mastl	A	G	2: 23,030,010 (GRCm39)	S239P	probably benign	Het
Med18	A	T	4: 132,186,977 (GRCm39)	V174D	probably damaging	Het
Mgat4a	A	T	1: 37,502,007 (GRCm39)	M247K	possibly damaging	Het
Mx2	A	C	16: 97,345,795 (GRCm39)	D71A	probably damaging	Het
Nxt1	G	T	2: 148,517,564 (GRCm39)	E102*	probably null	Het
Or14j1	A	G	17: 38,146,169 (GRCm39)	Q93R	possibly damaging	Het
Or3a1	A	G	11: 74,225,862 (GRCm39)	F65S	probably damaging	Het
Or7g16	T	C	9: 18,727,005 (GRCm39)	N195S	probably damaging	Het
Pcdhb16	T	A	18: 37,613,161 (GRCm39)	V707E	probably benign	Het
Pdzrn4	T	A	15: 92,667,768 (GRCm39)	V640E	probably damaging	Het
Piwil4	T	C	9: 14,637,282 (GRCm39)		probably null	Het
Pla2g4a	A	T	1: 149,776,950 (GRCm39)	D55E	probably damaging	Het
Plekhg2	C	A	7: 28,059,501 (GRCm39)	R1276L	probably damaging	Het
Psd4	G	A	2: 24,290,540 (GRCm39)	W539*	probably null	Het
Rae1	G	A	2: 172,845,306 (GRCm39)	E33K	probably damaging	Het
Rbm12b1	T	A	4: 12,145,563 (GRCm39)	F512I	probably damaging	Het
Rfx6	A	G	10: 51,602,952 (GRCm39)	D823G	possibly damaging	Het
Samt3	A	T	X: 85,090,759 (GRCm39)	Q217L	probably damaging	Het
Selenbp2	A	G	3: 94,605,438 (GRCm39)	N134S	probably null	Het
Selenoo	T	C	15: 88,984,173 (GRCm39)	V663A	probably damaging	Het
Sp4	G	T	12: 118,263,284 (GRCm39)	T254N	probably damaging	Het
Spdya	A	G	17: 71,885,242 (GRCm39)	K232R	probably benign	Het
Sycp3	A	G	10: 88,302,334 (GRCm39)	K108R	possibly damaging	Het
Usp2	A	G	9: 44,000,425 (GRCm39)		probably benign	Het
Vmn1r226	T	C	17: 20,907,926 (GRCm39)	S53P	probably damaging	Het
Vmn2r14	C	T	5: 109,372,349 (GRCm39)	G47D	probably damaging	Het
Vwf	T	G	6: 125,623,318 (GRCm39)	L1805W	probably damaging	Het
Washc3	A	T	10: 88,037,687 (GRCm39)	Q22L	probably damaging	Het
Wdr81	T	A	11: 75,335,546 (GRCm39)	D1761V	probably damaging	Het

Other mutations in Stom

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Stom	APN	2	35,226,889 (GRCm39)	missense	probably benign
IGL02825:Stom	APN	2	35,211,644 (GRCm39)	missense	probably damaging	1.00
IGL03078:Stom	APN	2	35,205,941 (GRCm39)	missense	probably damaging	1.00
R0320:Stom	UTSW	2	35,211,646 (GRCm39)	missense	probably damaging	1.00
R0355:Stom	UTSW	2	35,215,371 (GRCm39)	missense	probably benign	0.22
R0417:Stom	UTSW	2	35,211,644 (GRCm39)	missense	probably damaging	1.00
R1711:Stom	UTSW	2	35,205,929 (GRCm39)	missense	probably damaging	1.00
R2059:Stom	UTSW	2	35,206,037 (GRCm39)	missense	probably damaging	1.00
R2219:Stom	UTSW	2	35,211,613 (GRCm39)	missense	possibly damaging	0.95
R2509:Stom	UTSW	2	35,210,354 (GRCm39)	missense	probably damaging	1.00
R2516:Stom	UTSW	2	35,205,977 (GRCm39)	nonsense	probably null
R4469:Stom	UTSW	2	35,211,545 (GRCm39)	missense	possibly damaging	0.95
R4592:Stom	UTSW	2	35,213,758 (GRCm39)	missense	probably damaging	1.00
R5240:Stom	UTSW	2	35,226,889 (GRCm39)	missense	probably benign
R7338:Stom	UTSW	2	35,213,760 (GRCm39)	critical splice acceptor site	probably null
R7532:Stom	UTSW	2	35,211,589 (GRCm39)	missense	possibly damaging	0.91
R7652:Stom	UTSW	2	35,206,041 (GRCm39)	missense	probably benign	0.03
R8928:Stom	UTSW	2	35,205,937 (GRCm39)	missense	probably damaging	0.99
R9304:Stom	UTSW	2	35,211,697 (GRCm39)	missense	possibly damaging	0.55

Posted On

2015-04-16