Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00232:Gypa'

2306

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gypa

Ensembl Gene

ENSMUSG00000051839

Gene Name

glycophorin A

Synonyms

GPA, CD235a

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00232

Quality Score

Status

Chromosome

Chromosomal Location

81220674-81237414 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 81231408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000070836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063359]

AlphaFold

P14220

Predicted Effect

probably benign
Transcript: ENSMUST00000063359

SMART Domains

Protein: ENSMUSP00000070836
Gene: ENSMUSG00000051839

Domain	Start	End	E-Value	Type
Pfam:Glycophorin_A	43	162	2.5e-53	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile; however, mutant erythrocytes had a reduced percentage of O-linked glycoproteins in the membranes, and were sensitive to hypoosmotic stress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	C	A	15: 81,950,581 (GRCm39)	Q1493K	probably benign	Het
Anapc1	A	T	2: 128,487,050 (GRCm39)		probably benign	Het
Armc8	T	C	9: 99,387,787 (GRCm39)		probably null	Het
Asz1	T	G	6: 18,055,541 (GRCm39)		probably null	Het
Atp6v0a4	G	A	6: 38,069,725 (GRCm39)	R56*	probably null	Het
Bend6	T	C	1: 33,922,619 (GRCm39)	D8G	possibly damaging	Het
Ccdc171	T	A	4: 83,600,561 (GRCm39)	C870*	probably null	Het
Cd163	A	G	6: 124,306,060 (GRCm39)		probably benign	Het
Chd2	A	G	7: 73,118,325 (GRCm39)	S1098P	probably damaging	Het
Col6a5	T	G	9: 105,759,882 (GRCm39)	D1946A	probably damaging	Het
Gm6576	T	A	15: 27,025,884 (GRCm39)		noncoding transcript	Het
Ighv9-3	T	C	12: 114,104,691 (GRCm39)		probably benign	Het
Itgb1	T	G	8: 129,440,399 (GRCm39)		probably benign	Het
Kctd15	A	T	7: 34,350,170 (GRCm39)		probably null	Het
Krtap13	A	C	16: 88,548,423 (GRCm39)	S22A	possibly damaging	Het
Masp1	C	T	16: 23,276,841 (GRCm39)	E555K	possibly damaging	Het
Med13l	T	A	5: 118,862,136 (GRCm39)	S360T	probably damaging	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mfsd13a	A	G	19: 46,354,958 (GRCm39)	Y45C	probably damaging	Het
Neb	T	C	2: 52,125,568 (GRCm39)	D3662G	possibly damaging	Het
Nkx6-1	T	C	5: 101,807,371 (GRCm39)	D337G	possibly damaging	Het
Nlrc5	T	C	8: 95,211,251 (GRCm39)		probably null	Het
Palb2	T	C	7: 121,720,287 (GRCm39)	H468R	probably damaging	Het
Plscr1l1	C	T	9: 92,233,005 (GRCm39)	R43*	probably null	Het
Rai1	T	G	11: 60,076,217 (GRCm39)	Y94D	probably damaging	Het
Slc27a3	A	T	3: 90,292,748 (GRCm39)	Y605*	probably null	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Trpm7	T	C	2: 126,670,951 (GRCm39)	E677G	possibly damaging	Het
Tstd2	A	T	4: 46,120,002 (GRCm39)		probably benign	Het
Unc5c	T	C	3: 141,494,701 (GRCm39)	I412T	probably damaging	Het

Other mutations in Gypa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02283:Gypa	APN	8	81,220,721 (GRCm39)	splice site	probably benign
R0067:Gypa	UTSW	8	81,229,710 (GRCm39)	missense	possibly damaging	0.71
R0094:Gypa	UTSW	8	81,227,560 (GRCm39)	missense	unknown
R0563:Gypa	UTSW	8	81,236,089 (GRCm39)	missense	probably benign	0.04
R0685:Gypa	UTSW	8	81,223,331 (GRCm39)	splice site	probably benign
R0729:Gypa	UTSW	8	81,223,421 (GRCm39)	missense	unknown
R0850:Gypa	UTSW	8	81,222,974 (GRCm39)	missense	unknown
R1299:Gypa	UTSW	8	81,223,382 (GRCm39)	missense	unknown
R2435:Gypa	UTSW	8	81,233,397 (GRCm39)	splice site	probably null
R4998:Gypa	UTSW	8	81,222,964 (GRCm39)	missense	unknown
R5121:Gypa	UTSW	8	81,222,977 (GRCm39)	missense	unknown
R6295:Gypa	UTSW	8	81,222,969 (GRCm39)	missense	unknown
R6827:Gypa	UTSW	8	81,231,417 (GRCm39)	missense	probably benign	0.00
R8171:Gypa	UTSW	8	81,236,092 (GRCm39)	missense	probably benign	0.09
R8200:Gypa	UTSW	8	81,220,695 (GRCm39)	missense	unknown
R9043:Gypa	UTSW	8	81,222,946 (GRCm39)	missense	unknown
Z1177:Gypa	UTSW	8	81,227,627 (GRCm39)	missense	unknown

Posted On

2011-12-09