Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02435:Glrx3'

293252

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Glrx3

Ensembl Gene

ENSMUSG00000031068

Gene Name

glutaredoxin 3

Synonyms

PICOT, Txnl2, PKC interacting cousin of thioredoxin

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02435

Quality Score

Status

Chromosome

Chromosomal Location

137039343-137070323 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137063125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 132 (N132S)

Ref Sequence

ENSEMBL: ENSMUSP00000148144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064404] [ENSMUST00000209696] [ENSMUST00000211496] [ENSMUST00000211769]

AlphaFold

Q9CQM9

Predicted Effect

probably benign
Transcript: ENSMUST00000064404
AA Change: N257S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000066621
Gene: ENSMUSG00000031068
AA Change: N257S

Domain	Start	End	E-Value	Type
Pfam:Phosducin	6	102	6.3e-10	PFAM
Pfam:DIM1	13	112	4.5e-9	PFAM
Pfam:Thioredoxin	15	117	1.2e-21	PFAM
Pfam:Glutaredoxin	148	212	2.9e-19	PFAM
Pfam:Glutaredoxin	250	314	1.5e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209696
AA Change: N132S

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000211496
AA Change: N257S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000211769

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 the glutaredoxin family. Glutaredoxins are oxidoreductase enzymes that reduce a variety of substrates using glutathione as a cofactor. The encoded protein binds to and modulates the function of protein kinase C theta. The encoded protein may also inhibit apoptosis and play a role in cellular growth, and the expression of this gene may be a marker for cancer. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit lethality during late organogenesis and early fetal development. Mice heterozygous for this gene trapped allele exhibit increased response to cardiac injury and decreased cardiac muscle contractility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amph	A	G	13: 19,323,333 (GRCm39)		probably benign	Het
Ankrd12	G	T	17: 66,294,151 (GRCm39)	S427R	probably damaging	Het
Atp4a	A	G	7: 30,416,482 (GRCm39)	T420A	probably benign	Het
Braf	C	T	6: 39,623,700 (GRCm39)	S414N	probably benign	Het
C1rl	T	C	6: 124,485,832 (GRCm39)	L401P	probably damaging	Het
Ecpas	A	G	4: 58,830,325 (GRCm39)		probably benign	Het
Elmo1	A	T	13: 20,773,826 (GRCm39)	D612V	probably damaging	Het
Fbxo15	T	C	18: 84,977,351 (GRCm39)	S88P	probably damaging	Het
Hamp	G	T	7: 30,643,324 (GRCm39)	Q29K	probably benign	Het
Igfbp2	G	A	1: 72,891,245 (GRCm39)	R281Q	probably damaging	Het
Itih3	C	T	14: 30,637,711 (GRCm39)	A483T	probably damaging	Het
Mrc1	C	T	2: 14,253,671 (GRCm39)	Q231*	probably null	Het
Nif3l1	A	G	1: 58,487,020 (GRCm39)	T69A	possibly damaging	Het
Ntrk1	A	G	3: 87,696,039 (GRCm39)	F157S	probably benign	Het
Or2ag1b	A	G	7: 106,288,710 (GRCm39)	V76A	probably benign	Het
Or4a72	A	G	2: 89,405,890 (GRCm39)	F60S	probably damaging	Het
Or5b97	A	T	19: 12,878,391 (GRCm39)	I251N	probably damaging	Het
Pck2	T	C	14: 55,781,847 (GRCm39)		probably benign	Het
Pdgfrb	T	C	18: 61,197,998 (GRCm39)		probably null	Het
Ric8b	A	G	10: 84,815,940 (GRCm39)	N194S	probably benign	Het
Rlbp1	A	G	7: 79,031,414 (GRCm39)	F105L	probably damaging	Het
Sde2	G	T	1: 180,693,717 (GRCm39)	K402N	probably damaging	Het
Slc13a3	T	C	2: 165,250,860 (GRCm39)	H461R	possibly damaging	Het
Spag17	A	T	3: 99,889,760 (GRCm39)	I210F	possibly damaging	Het
Szt2	G	A	4: 118,248,020 (GRCm39)	R735W	probably damaging	Het
Tspan6	T	C	X: 132,793,493 (GRCm39)	Y186C	probably benign	Het
Ugt8a	A	G	3: 125,660,969 (GRCm39)	S508P	probably benign	Het
Zfp217	T	C	2: 169,961,373 (GRCm39)	D318G	possibly damaging	Het

Other mutations in Glrx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00678:Glrx3	APN	7	137,054,442 (GRCm39)	missense	probably damaging	1.00
F5770:Glrx3	UTSW	7	137,060,882 (GRCm39)	missense	probably benign
R0347:Glrx3	UTSW	7	137,039,430 (GRCm39)	missense	unknown
R0359:Glrx3	UTSW	7	137,055,214 (GRCm39)	missense	possibly damaging	0.80
R1270:Glrx3	UTSW	7	137,055,143 (GRCm39)	missense	probably benign	0.02
R3692:Glrx3	UTSW	7	137,060,846 (GRCm39)	splice site	probably benign
R4909:Glrx3	UTSW	7	137,046,765 (GRCm39)	missense	probably damaging	1.00
R4920:Glrx3	UTSW	7	137,065,859 (GRCm39)	missense	probably null	1.00
R5509:Glrx3	UTSW	7	137,046,751 (GRCm39)	missense	probably damaging	1.00
R6831:Glrx3	UTSW	7	137,060,951 (GRCm39)	missense	possibly damaging	0.76
R7200:Glrx3	UTSW	7	137,066,165 (GRCm39)	missense	possibly damaging	0.81
R7347:Glrx3	UTSW	7	137,061,015 (GRCm39)	missense	possibly damaging	0.83
R7356:Glrx3	UTSW	7	137,054,453 (GRCm39)	missense	probably damaging	0.98
R7481:Glrx3	UTSW	7	137,046,751 (GRCm39)	missense	probably damaging	1.00
R7660:Glrx3	UTSW	7	137,060,954 (GRCm39)	missense	probably damaging	1.00
R7685:Glrx3	UTSW	7	137,060,920 (GRCm39)	missense	probably damaging	0.98
R8147:Glrx3	UTSW	7	137,064,736 (GRCm39)	missense	probably benign	0.00
R9627:Glrx3	UTSW	7	137,046,755 (GRCm39)	missense	probably benign	0.00
V7581:Glrx3	UTSW	7	137,060,882 (GRCm39)	missense	probably benign

Posted On

2015-04-16