Mutagenetix > Incidental Mutation

Incidental Mutation 'R4592:Stom'

386392

Institutional Source

Beutler Lab

Gene Symbol

Stom

Ensembl Gene

ENSMUSG00000026880

Gene Name

stomatin

Synonyms

Epb7.2, stomatin, protein 7.2b

MMRRC Submission

041808-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4592 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35203998-35226988 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35213758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 80 (G80D)

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 damaging
Transcript: ENSMUST00000028241
AA Change: G80D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028241
Gene: ENSMUSG00000026880
AA Change: G80D

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

Meta Mutation Damage Score

0.9752

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,457,164 (GRCm39)	V161E	possibly damaging	Het
Arhgap40	T	C	2: 158,388,629 (GRCm39)	V521A	possibly damaging	Het
Atrn	T	C	2: 130,841,050 (GRCm39)		probably benign	Het
Casp12	T	C	9: 5,352,923 (GRCm39)		probably benign	Het
Cenpf	G	A	1: 189,411,230 (GRCm39)	T318M	probably damaging	Het
Cfap119	C	T	7: 127,184,663 (GRCm39)	R172H	probably benign	Het
Clcn2	T	C	16: 20,527,892 (GRCm39)	K525E	probably damaging	Het
Cntln	A	G	4: 84,889,419 (GRCm39)	T301A	probably benign	Het
Crat	T	C	2: 30,305,378 (GRCm39)		probably benign	Het
Cul5	A	G	9: 53,545,027 (GRCm39)		probably benign	Het
Cxcl14	A	T	13: 56,443,708 (GRCm39)	I34N	probably damaging	Het
Cyp2b19	A	G	7: 26,470,819 (GRCm39)	I487V	probably benign	Het
Cyp4a10	T	A	4: 115,386,690 (GRCm39)	F446I	probably damaging	Het
D430041D05Rik	T	A	2: 104,063,824 (GRCm39)	M659L	possibly damaging	Het
Dclk3	T	C	9: 111,296,963 (GRCm39)	F169S	probably damaging	Het
Ddx52	T	C	11: 83,848,306 (GRCm39)	I532T	probably damaging	Het
Dnm1	T	C	2: 32,226,023 (GRCm39)	D352G	probably damaging	Het
Eif4g2	T	C	7: 110,677,509 (GRCm39)	E174G	probably damaging	Het
Enpp6	G	T	8: 47,546,067 (GRCm39)	V386L	probably damaging	Het
Entr1	C	A	2: 26,278,909 (GRCm39)		probably benign	Het
Eps15l1	T	C	8: 73,095,238 (GRCm39)	D904G	probably damaging	Het
Esrrb	A	G	12: 86,565,604 (GRCm39)	Y356C	probably damaging	Het
Flt3	A	T	5: 147,291,509 (GRCm39)	S619T	possibly damaging	Het
Fndc7	A	T	3: 108,766,218 (GRCm39)	C716S	probably damaging	Het
Gm26996	T	A	6: 130,556,448 (GRCm39)		noncoding transcript	Het
Grik2	A	T	10: 49,298,711 (GRCm39)	F50I	possibly damaging	Het
Guf1	T	C	5: 69,723,786 (GRCm39)	V367A	possibly damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Ifnar2	T	C	16: 91,188,684 (GRCm39)	V55A	probably benign	Het
Impg1	T	A	9: 80,322,907 (GRCm39)	I33F	probably benign	Het
Ltbp4	A	C	7: 27,024,608 (GRCm39)	V674G	probably damaging	Het
Mroh2b	T	A	15: 4,947,772 (GRCm39)	L529H	probably damaging	Het
Negr1	T	C	3: 156,914,023 (GRCm39)		probably benign	Het
Neurog3	A	G	10: 61,969,599 (GRCm39)	T25A	probably damaging	Het
Or10v1	T	C	19: 11,874,126 (GRCm39)	V247A	probably benign	Het
Or4a69	T	A	2: 89,313,100 (GRCm39)	K126N	probably damaging	Het
Or51h1	A	C	7: 102,308,685 (GRCm39)	Y219S	probably damaging	Het
Or5k17	T	C	16: 58,746,455 (GRCm39)	T160A	probably benign	Het
Pax8	T	A	2: 24,333,201 (GRCm39)		probably benign	Het
Pcsk6	A	C	7: 65,581,480 (GRCm39)	I254L	possibly damaging	Het
Pde3a	A	G	6: 141,404,942 (GRCm39)	K389R	probably benign	Het
Rab3gap1	C	A	1: 127,852,996 (GRCm39)		probably benign	Het
Rbck1	G	A	2: 152,160,653 (GRCm39)	Q428*	probably null	Het
Rptor	A	G	11: 119,689,666 (GRCm39)	D321G	probably null	Het
Sall2	C	A	14: 52,551,260 (GRCm39)	R643L	probably damaging	Het
Skp1	T	C	11: 52,134,446 (GRCm39)	I59T	possibly damaging	Het
Slc23a3	T	G	1: 75,105,200 (GRCm39)	N456T	probably damaging	Het
Slc4a7	G	A	14: 14,778,850 (GRCm38)	G920S	probably damaging	Het
Smarcd3	T	C	5: 24,797,802 (GRCm39)	I467V	probably benign	Het
Spata31d1c	C	T	13: 65,183,874 (GRCm39)	A472V	probably damaging	Het
Spmap1	A	G	11: 97,662,441 (GRCm39)	S144P	probably damaging	Het
Srsf6	T	C	2: 162,773,643 (GRCm39)	I18T	probably damaging	Het
Svep1	A	T	4: 58,084,028 (GRCm39)	Y1915N	possibly damaging	Het
Tmf1	C	T	6: 97,150,361 (GRCm39)	V449I	probably benign	Het
Triobp	C	T	15: 78,851,295 (GRCm39)	A483V	probably benign	Het
Vdac1	G	A	11: 52,265,799 (GRCm39)		probably null	Het
Vmn2r75	T	G	7: 85,815,494 (GRCm39)	E123D	probably benign	Het
Vmn2r79	T	A	7: 86,653,319 (GRCm39)	V528D	possibly damaging	Het
Zdbf2	T	G	1: 63,345,750 (GRCm39)	N1376K	possibly damaging	Het
Zeb1os1	T	C	18: 5,525,375 (GRCm39)		noncoding transcript	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
IGL02103:Stom	APN	2	35,210,401 (GRCm39)	missense	probably benign	0.23
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
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

Predicted Primers

PCR Primer
(F):5'- GTCTCTAACAACTGTGACAAGC -3'
(R):5'- ACTGCAAGGGCTTGAGGTTC -3'

Sequencing Primer
(F):5'- ACCTGCGATTCACAGTTGAG -3'
(R):5'- CAAGGGCTTGAGGTTCAGGAC -3'

Posted On

2016-05-24