Mutagenetix > Incidental Mutation

Incidental Mutation 'R4469:Stom'

329304

Institutional Source

Beutler Lab

Gene Symbol

Stom

Ensembl Gene

ENSMUSG00000026880

Gene Name

stomatin

Synonyms

Epb7.2, stomatin, protein 7.2b

MMRRC Submission

041726-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4469 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35203998-35226988 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35211545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 159 (N159D)

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

possibly damaging
Transcript: ENSMUST00000028241
AA Change: N159D

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028241
Gene: ENSMUSG00000026880
AA Change: N159D

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

0.0644

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (52/52)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,606,345 (GRCm39)	K196E	probably damaging	Het
Ackr1	T	C	1: 173,160,112 (GRCm39)		probably null	Het
Adgra1	C	T	7: 139,455,977 (GRCm39)	T535I	probably damaging	Het
Ankrd11	A	G	8: 123,623,326 (GRCm39)	Y310H	probably damaging	Het
Arhgef5	T	C	6: 43,252,033 (GRCm39)	I928T	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Asb4	C	A	6: 5,423,409 (GRCm39)	F185L	probably benign	Het
Ces2g	A	T	8: 105,692,602 (GRCm39)	I301F	probably benign	Het
Chd1	T	C	17: 15,980,657 (GRCm39)	I1308T	probably damaging	Het
Cntnap4	A	T	8: 113,391,898 (GRCm39)	N121I	probably damaging	Het
Csf1	C	T	3: 107,657,997 (GRCm39)		probably null	Het
Dnah7a	T	A	1: 53,483,685 (GRCm39)	H3364L	probably benign	Het
Dnmt3c	A	G	2: 153,562,280 (GRCm39)	T555A	possibly damaging	Het
Dst	A	G	1: 34,230,923 (GRCm39)	T3017A	probably benign	Het
Efcab7	A	G	4: 99,766,901 (GRCm39)	D482G	possibly damaging	Het
Fbxl5	A	G	5: 43,925,528 (GRCm39)	V154A	probably damaging	Het
Flt3	T	C	5: 147,312,454 (GRCm39)		silent	Het
G6pd2	A	T	5: 61,966,288 (GRCm39)	Y21F	probably benign	Het
Gm9376	C	T	14: 118,505,011 (GRCm39)	P148S	probably damaging	Het
Gpsm1	G	A	2: 26,209,843 (GRCm39)		probably benign	Het
Gtpbp2	A	G	17: 46,472,239 (GRCm39)	Y58C	probably damaging	Het
Hcrtr2	T	A	9: 76,137,838 (GRCm39)	T426S	probably benign	Het
Herc3	T	A	6: 58,853,794 (GRCm39)	Y613*	probably null	Het
Hsd17b1	A	T	11: 100,970,838 (GRCm39)	M265L	probably benign	Het
Ier3ip1	A	G	18: 77,028,294 (GRCm39)		probably benign	Het
Kif11	A	G	19: 37,404,940 (GRCm39)	M924V	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lancl2	T	A	6: 57,690,019 (GRCm39)	L75H	probably damaging	Het
Mfsd4b1	T	C	10: 39,888,091 (GRCm39)		probably benign	Het
Nlrc5	A	T	8: 95,247,467 (GRCm39)	I1588F	probably damaging	Het
Nostrin	C	G	2: 69,006,061 (GRCm39)	I248M	probably damaging	Het
Or12d14-ps1	A	G	17: 37,673,528 (GRCm39)	I170M	possibly damaging	Het
Or14j1	T	C	17: 38,146,607 (GRCm39)	L239P	probably benign	Het
Qng1	A	G	13: 58,530,239 (GRCm39)	L257P	probably damaging	Het
Rabggta	A	G	14: 55,953,944 (GRCm39)	V266A	probably benign	Het
Ror2	G	A	13: 53,286,016 (GRCm39)	T66M	possibly damaging	Het
Rps6-ps2	A	G	8: 89,533,319 (GRCm39)		noncoding transcript	Het
Skp1	C	T	11: 52,135,905 (GRCm39)	T138I	probably benign	Het
Smad9	T	C	3: 54,690,182 (GRCm39)	V134A	probably damaging	Het
Snx29	T	A	16: 11,238,565 (GRCm39)		probably null	Het
Sos1	A	G	17: 80,761,240 (GRCm39)	I152T	probably damaging	Het
Ssbp2	G	A	13: 91,842,175 (GRCm39)	G302D	probably damaging	Het
Trav16d-dv11	A	G	14: 53,285,035 (GRCm39)	K37R	probably benign	Het
Trim75	A	G	8: 65,436,369 (GRCm39)	V27A	probably damaging	Het
Ttn	T	C	2: 76,548,105 (GRCm39)	T32066A	probably damaging	Het
Txndc11	T	C	16: 10,893,087 (GRCm39)	H881R	probably benign	Het
Ubp1	C	T	9: 113,787,775 (GRCm39)	T222I	probably benign	Het
Unc5cl	C	G	17: 48,766,833 (GRCm39)	P69R	possibly damaging	Het
Zfp616	T	A	11: 73,961,950 (GRCm39)	C24S	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCATCTGAGTACCATGATCCC -3'
(R):5'- GCAAGTGTATGATTGCCTTCCTC -3'

Sequencing Primer
(F):5'- CATGATCCCATGGGTTTTGTC -3'
(R):5'- AAGTGTATGATTGCCTTCCTCTTCCC -3'

Posted On

2015-07-21