Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02145:Grxcr1'

281718

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Grxcr1

Ensembl Gene

ENSMUSG00000068082

Gene Name

glutaredoxin, cysteine rich 1

Synonyms

pi, tde

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

IGL02145

Quality Score

Status

Chromosome

Chromosomal Location

68189178-68323741 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68267821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 190 (E190G)

Ref Sequence

ENSEMBL: ENSMUSP00000092305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094715]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000094715
AA Change: E190G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092305
Gene: ENSMUSG00000068082
AA Change: E190G

Domain	Start	End	E-Value	Type
Pfam:Glutaredoxin	145	214	9.7e-11	PFAM

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 is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin organization in hair cells. [provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous mutations at this locus result in circling and head tossing behavior, and impaired hearing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agt	A	G	8: 125,291,187 (GRCm39)	L40P	probably damaging	Het
Ahnak	T	C	19: 8,980,219 (GRCm39)	I501T	probably benign	Het
Aldh2	A	G	5: 121,706,056 (GRCm39)	*196Q	probably null	Het
Ankrd65	A	G	4: 155,875,848 (GRCm39)	D23G	possibly damaging	Het
Anln	A	T	9: 22,250,292 (GRCm39)		probably null	Het
Armc3	C	T	2: 19,301,671 (GRCm39)	S663L	possibly damaging	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Cul5	A	T	9: 53,546,375 (GRCm39)		probably benign	Het
Cyba	T	C	8: 123,151,796 (GRCm39)	I134V	probably damaging	Het
Cybb	T	A	X: 9,323,257 (GRCm39)	Q93H	probably damaging	Het
Cyp4f37	G	T	17: 32,849,009 (GRCm39)	K292N	probably benign	Het
Dmxl2	T	C	9: 54,281,981 (GRCm39)	I2850V	probably benign	Het
Ep300	T	C	15: 81,485,367 (GRCm39)	I118T	unknown	Het
Ercc6l	G	T	X: 101,189,148 (GRCm39)	P454T	probably benign	Het
Heatr3	C	T	8: 88,871,227 (GRCm39)	R194C	probably benign	Het
Hspa12b	C	T	2: 130,985,655 (GRCm39)		probably benign	Het
Inpp5d	T	C	1: 87,642,777 (GRCm39)	V644A	probably damaging	Het
Kif26a	G	A	12: 112,143,409 (GRCm39)	R1221H	probably benign	Het
Klra8	T	C	6: 130,102,199 (GRCm39)	N79D	probably benign	Het
Kntc1	T	C	5: 123,900,661 (GRCm39)	I253T	possibly damaging	Het
Lamp5	T	C	2: 135,901,509 (GRCm39)	V111A	possibly damaging	Het
Lmo7	T	C	14: 102,139,659 (GRCm39)	S859P	probably benign	Het
Mgarp	T	C	3: 51,296,453 (GRCm39)	Q205R	possibly damaging	Het
Morf4l1	A	G	9: 89,975,848 (GRCm39)	Y315H	probably benign	Het
Naip6	A	T	13: 100,433,486 (GRCm39)	V1117E	possibly damaging	Het
Nipal1	A	G	5: 72,824,274 (GRCm39)	D206G	probably damaging	Het
Notch3	A	G	17: 32,373,715 (GRCm39)	S498P	probably benign	Het
Npepps	A	G	11: 97,109,328 (GRCm39)		probably null	Het
Or14c46	C	A	7: 85,918,466 (GRCm39)	C177F	probably damaging	Het
Or2ak6	T	C	11: 58,592,886 (GRCm39)	Y120H	probably damaging	Het
Phlpp1	A	G	1: 106,317,613 (GRCm39)	H1278R	probably damaging	Het
Pprc1	C	A	19: 46,053,329 (GRCm39)		probably benign	Het
Rab8b	A	T	9: 66,755,000 (GRCm39)		probably benign	Het
Ripor2	T	A	13: 24,901,554 (GRCm39)	I875N	probably damaging	Het
Samd9l	T	C	6: 3,374,105 (GRCm39)	E1052G	probably benign	Het
Slit3	A	T	11: 35,520,569 (GRCm39)	I569F	probably damaging	Het
Spata2l	C	T	8: 123,960,770 (GRCm39)	G173D	possibly damaging	Het
Stc2	T	G	11: 31,317,875 (GRCm39)		probably benign	Het
Tm6sf1	C	A	7: 81,513,000 (GRCm39)	Y65*	probably null	Het
Tspan15	A	G	10: 62,029,751 (GRCm39)		probably benign	Het
Vmn2r14	A	T	5: 109,368,454 (GRCm39)	Y179*	probably null	Het
Washc5	C	A	15: 59,241,060 (GRCm39)	V92L	probably benign	Het
Wiz	A	G	17: 32,575,893 (GRCm39)	S838P	probably benign	Het
Zp2	T	A	7: 119,739,074 (GRCm39)		probably null	Het

Other mutations in Grxcr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Grxcr1	APN	5	68,189,540 (GRCm39)	missense	possibly damaging	0.94
IGL00943:Grxcr1	APN	5	68,189,638 (GRCm39)	splice site	probably benign
IGL01092:Grxcr1	APN	5	68,267,905 (GRCm39)	splice site	probably benign
R2089:Grxcr1	UTSW	5	68,267,755 (GRCm39)	missense	probably damaging	1.00
R2091:Grxcr1	UTSW	5	68,267,755 (GRCm39)	missense	probably damaging	1.00
R2091:Grxcr1	UTSW	5	68,267,755 (GRCm39)	missense	probably damaging	1.00
R3018:Grxcr1	UTSW	5	68,267,860 (GRCm39)	missense	probably damaging	1.00
R5388:Grxcr1	UTSW	5	68,323,538 (GRCm39)	missense	probably damaging	1.00
R6103:Grxcr1	UTSW	5	68,323,547 (GRCm39)	missense	possibly damaging	0.94
R6737:Grxcr1	UTSW	5	68,267,835 (GRCm39)	missense	probably damaging	1.00
R6855:Grxcr1	UTSW	5	68,189,437 (GRCm39)	missense	possibly damaging	0.95
R8475:Grxcr1	UTSW	5	68,323,484 (GRCm39)	missense	possibly damaging	0.73
R8677:Grxcr1	UTSW	5	68,267,757 (GRCm39)	missense	possibly damaging	0.58
X0025:Grxcr1	UTSW	5	68,189,237 (GRCm39)	missense	possibly damaging	0.96
Z1191:Grxcr1	UTSW	5	68,323,532 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16