Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02452:Txnrd3'

293711

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Txnrd3

Ensembl Gene

ENSMUSG00000000811

Gene Name

thioredoxin reductase 3

Synonyms

TR2, Tgr

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.695) question?

Stock #

IGL02452

Quality Score

Status

Chromosome

Chromosomal Location

89620970-89652511 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 89651777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 502 (*502Q)

Ref Sequence

ENSEMBL: ENSMUSP00000098730 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000828] [ENSMUST00000101171]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000000828
AA Change: *616Q

SMART Domains

Protein: ENSMUSP00000000828
Gene: ENSMUSG00000000811
AA Change: *616Q

Domain	Start	End	E-Value	Type
low complexity region	17	34	N/A	INTRINSIC
Pfam:Glutaredoxin	40	102	9.2e-18	PFAM
Pfam:Pyr_redox_2	129	466	2.5e-66	PFAM
Pfam:FAD_binding_2	130	290	4.6e-9	PFAM
Pfam:Pyr_redox	309	386	9.6e-16	PFAM
Pfam:Pyr_redox_dim	486	599	2.7e-31	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000101171
AA Change: *502Q

SMART Domains

Protein: ENSMUSP00000098730
Gene: ENSMUSG00000000811
AA Change: *502Q

Domain	Start	End	E-Value	Type
low complexity region	17	34	N/A	INTRINSIC
Pfam:Glutaredoxin	40	102	1.5e-18	PFAM
Pfam:Thi4	116	222	3.9e-7	PFAM
Pfam:FAD_binding_2	130	264	3.7e-9	PFAM
Pfam:Pyr_redox_2	130	342	2.9e-24	PFAM
Pfam:Pyr_redox_dim	372	485	2.8e-31	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the family of pyridine nucleotide oxidoreductases. This protein catalyzes the reduction of thioredoxin, but unlike other mammalian thioredoxin reductases (TRs), it contains an additional glutaredoxin domain, and shows highest expression in testes. Like other TRs, it contains a C-terminal, penultimate selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. There is also evidence for the use of a non-AUG (CUG) translation initiation site upstream of, and in-frame with the first AUG, leading to additional isoforms. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	C	A	3: 153,647,607 (GRCm39)	V11F	probably damaging	Het
Alk	A	T	17: 72,209,620 (GRCm39)	Y941*	probably null	Het
Blm	A	T	7: 80,153,125 (GRCm39)		probably null	Het
Blvrb	T	C	7: 27,158,765 (GRCm39)	V55A	possibly damaging	Het
Cdh23	T	A	10: 60,153,721 (GRCm39)	T2288S	probably damaging	Het
Csnk1g1	T	A	9: 65,915,067 (GRCm39)	M242K	probably damaging	Het
Cyp2c29	G	A	19: 39,279,291 (GRCm39)	G96D	possibly damaging	Het
Cyp2d26	T	A	15: 82,676,827 (GRCm39)	H173L	probably benign	Het
Cyp2g1	T	A	7: 26,510,871 (GRCm39)	S131T	probably benign	Het
Dusp29	G	A	14: 21,752,990 (GRCm39)	T52I	probably damaging	Het
Dzip3	T	A	16: 48,758,900 (GRCm39)		probably benign	Het
Espl1	T	C	15: 102,208,274 (GRCm39)	S427P	probably damaging	Het
Fasn	A	T	11: 120,699,006 (GRCm39)	D2424E	probably benign	Het
Flrt2	G	A	12: 95,746,257 (GRCm39)	M198I	probably benign	Het
Gen1	A	T	12: 11,292,576 (GRCm39)	S404R	probably benign	Het
Gm11596	A	T	11: 99,683,806 (GRCm39)	C105S	unknown	Het
Hdlbp	A	T	1: 93,345,233 (GRCm39)	V714D	probably damaging	Het
Igkv4-80	A	G	6: 68,993,816 (GRCm39)	V25A	probably benign	Het
Igkv8-27	C	T	6: 70,148,925 (GRCm39)	W76*	probably null	Het
Ikzf1	T	C	11: 11,698,545 (GRCm39)	L132P	probably damaging	Het
Kcna6	C	A	6: 126,715,443 (GRCm39)	C482F	possibly damaging	Het
Lhx9	A	T	1: 138,769,580 (GRCm39)	L47Q	probably damaging	Het
Lrp4	T	A	2: 91,304,347 (GRCm39)	D175E	probably damaging	Het
Lrrtm3	T	C	10: 63,923,815 (GRCm39)	K451E	probably damaging	Het
Mcm9	C	T	10: 53,417,653 (GRCm39)	V17M	probably damaging	Het
Mios	T	A	6: 8,222,492 (GRCm39)	S475R	probably benign	Het
Mmp24	C	T	2: 155,657,708 (GRCm39)	R533C	probably damaging	Het
Moxd1	C	T	10: 24,158,650 (GRCm39)	P435S	probably damaging	Het
Mta2	T	A	19: 8,927,670 (GRCm39)	I497N	probably benign	Het
Mtus2	T	C	5: 148,014,473 (GRCm39)	V422A	probably benign	Het
Ndufaf1	A	T	2: 119,486,907 (GRCm39)	F260Y	probably damaging	Het
Nfasc	C	T	1: 132,548,662 (GRCm39)		probably null	Het
Nid1	A	T	13: 13,683,305 (GRCm39)	T1128S	probably benign	Het
Odad2	C	T	18: 7,129,461 (GRCm39)	E906K	probably damaging	Het
Or51f1d	A	G	7: 102,701,138 (GRCm39)	D211G	probably benign	Het
Pcdh12	G	A	18: 38,414,746 (GRCm39)	P793L	probably benign	Het
Pclo	A	T	5: 14,726,980 (GRCm39)		probably benign	Het
Prpf31	T	A	7: 3,637,185 (GRCm39)	N161K	possibly damaging	Het
Prpf6	T	G	2: 181,290,878 (GRCm39)	N656K	probably benign	Het
Ptprn	T	A	1: 75,234,813 (GRCm39)	H258L	probably benign	Het
Rab19	A	G	6: 39,366,732 (GRCm39)	T216A	probably benign	Het
Ryr3	A	C	2: 112,664,335 (GRCm39)	L1652W	probably damaging	Het
Six2	A	C	17: 85,992,806 (GRCm39)	S232R	possibly damaging	Het
Spag17	T	C	3: 99,934,707 (GRCm39)	V663A	probably benign	Het
Spag5	A	G	11: 78,195,449 (GRCm39)	N252S	probably benign	Het
Spata31e4	A	T	13: 50,857,113 (GRCm39)	H917L	probably damaging	Het
Sptb	C	T	12: 76,655,810 (GRCm39)		probably null	Het
Synj1	A	G	16: 90,758,253 (GRCm39)		probably benign	Het
Tekt2	T	C	4: 126,218,645 (GRCm39)	H36R	possibly damaging	Het
Tjp1	A	T	7: 64,962,403 (GRCm39)	M1258K	probably damaging	Het

Other mutations in Txnrd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01449:Txnrd3	APN	6	89,631,129 (GRCm39)	missense	probably benign	0.15
IGL01763:Txnrd3	APN	6	89,638,537 (GRCm39)	missense	probably damaging	0.97
IGL02159:Txnrd3	APN	6	89,646,306 (GRCm39)	missense	probably damaging	1.00
IGL02238:Txnrd3	APN	6	89,633,117 (GRCm39)	missense	probably benign	0.02
R1054:Txnrd3	UTSW	6	89,627,543 (GRCm39)	nonsense	probably null
R3522:Txnrd3	UTSW	6	89,640,057 (GRCm39)	critical splice acceptor site	probably null
R5108:Txnrd3	UTSW	6	89,650,016 (GRCm39)	missense	probably benign	0.33
R5653:Txnrd3	UTSW	6	89,631,067 (GRCm39)	missense	probably benign	0.25
R6159:Txnrd3	UTSW	6	89,640,176 (GRCm39)	critical splice donor site	probably null
R6246:Txnrd3	UTSW	6	89,628,523 (GRCm39)	missense	probably benign	0.01
R6519:Txnrd3	UTSW	6	89,631,405 (GRCm39)	critical splice donor site	probably null
R6661:Txnrd3	UTSW	6	89,631,134 (GRCm39)	nonsense	probably null
R6685:Txnrd3	UTSW	6	89,646,897 (GRCm39)	missense	possibly damaging	0.84
R7353:Txnrd3	UTSW	6	89,638,567 (GRCm39)	missense	probably benign	0.02
R8987:Txnrd3	UTSW	6	89,638,477 (GRCm39)	missense	possibly damaging	0.78
R9014:Txnrd3	UTSW	6	89,631,091 (GRCm39)	missense	probably damaging	1.00
R9479:Txnrd3	UTSW	6	89,640,084 (GRCm39)	missense	possibly damaging	0.48
R9506:Txnrd3	UTSW	6	89,638,461 (GRCm39)	missense	possibly damaging	0.81
R9528:Txnrd3	UTSW	6	89,649,954 (GRCm39)	missense	probably damaging	0.99
R9574:Txnrd3	UTSW	6	89,640,166 (GRCm39)	nonsense	probably null
R9727:Txnrd3	UTSW	6	89,651,751 (GRCm39)	missense	probably benign	0.02
R9802:Txnrd3	UTSW	6	89,640,176 (GRCm39)	critical splice donor site	probably null

Posted On

2015-04-16