Mutagenetix > Incidental Mutation

Incidental Mutation 'R9802:Txnrd3'

735257

Institutional Source

Beutler Lab

Gene Symbol

Txnrd3

Ensembl Gene

ENSMUSG00000000811

Gene Name

thioredoxin reductase 3

Synonyms

TR2, Tgr

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.671) question?

Stock #

R9802 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89620970-89652511 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 89640176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000000828 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000000828

SMART Domains

Protein: ENSMUSP00000000828
Gene: ENSMUSG00000000811

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: ENSMUST00000000828

SMART Domains

Protein: ENSMUSP00000000828
Gene: ENSMUSG00000000811

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 benign
Transcript: ENSMUST00000101171

SMART Domains

Protein: ENSMUSP00000098730
Gene: ENSMUSG00000000811

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

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

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
Abcc8	T	C	7: 45,786,054 (GRCm39)	D673G	probably benign	Het
Akr1b1	T	C	6: 34,283,508 (GRCm39)	Y292C	probably benign	Het
Alg8	T	A	7: 97,027,486 (GRCm39)	V118E	possibly damaging	Het
Alms1	T	A	6: 85,606,220 (GRCm39)	D2154E	possibly damaging	Het
Anln	T	C	9: 22,245,453 (GRCm39)	I1029M	probably damaging	Het
Bltp3b	G	A	10: 89,615,755 (GRCm39)	V133I	probably benign	Het
Bms1	T	A	6: 118,368,147 (GRCm39)	K1039I	probably damaging	Het
Cdh11	G	A	8: 103,391,276 (GRCm39)	T320I	probably damaging	Het
Col4a2	A	G	8: 11,493,104 (GRCm39)	N1299S	probably benign	Het
Dclk3	A	G	9: 111,298,244 (GRCm39)	D596G	probably damaging	Het
Dnah7a	A	T	1: 53,561,388 (GRCm39)	C2090S	probably benign	Het
Dock7	T	C	4: 98,846,384 (GRCm39)	D1749G	unknown	Het
Egr1	T	C	18: 34,995,674 (GRCm39)	F152S	probably damaging	Het
Eln	C	A	5: 134,744,559 (GRCm39)	A479S	unknown	Het
Gipc3	G	A	10: 81,179,097 (GRCm39)		probably benign	Het
Hcfc2	G	T	10: 82,574,269 (GRCm39)	G148*	probably null	Het
Hmcn1	T	C	1: 150,684,391 (GRCm39)	D393G	probably benign	Het
Hnf4g	A	T	3: 3,699,404 (GRCm39)	N45Y	probably benign	Het
Ighd	G	A	12: 113,371,455 (GRCm39)	P265S		Het
Igkv3-10	T	C	6: 70,550,001 (GRCm39)	V49A	probably damaging	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Jmjd1c	A	T	10: 67,060,745 (GRCm39)	I852F	possibly damaging	Het
Lhx5	T	A	5: 120,572,663 (GRCm39)	V94E	possibly damaging	Het
Map3k13	C	A	16: 21,740,518 (GRCm39)	P615H	possibly damaging	Het
Med12l	T	C	3: 59,169,346 (GRCm39)	W1579R	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mib1	T	A	18: 10,798,494 (GRCm39)	L785H	probably damaging	Het
Mrgpra6	C	T	7: 46,835,533 (GRCm39)	R296K	probably benign	Het
Mutyh	A	G	4: 116,676,485 (GRCm39)	S486G	probably benign	Het
Naa15	T	A	3: 51,349,370 (GRCm39)	Y96*	probably null	Het
Naip1	C	G	13: 100,562,713 (GRCm39)	E817D	probably benign	Het
Nxf1	G	A	19: 8,739,772 (GRCm39)	G42D	probably damaging	Het
Obscn	T	C	11: 58,885,189 (GRCm39)	Y8023C	unknown	Het
Opn5	G	A	17: 42,903,582 (GRCm39)	T251I	possibly damaging	Het
Or4c11b	T	A	2: 88,625,491 (GRCm39)	I255K	probably damaging	Het
Plcl1	T	C	1: 55,735,241 (GRCm39)	L194P	probably damaging	Het
Prkab1	T	C	5: 116,162,274 (GRCm39)	E12G	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Serpinb9e	T	C	13: 33,439,078 (GRCm39)	F168S	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skint3	T	A	4: 112,111,094 (GRCm39)	V73E	probably damaging	Het
Slc47a1	A	T	11: 61,240,342 (GRCm39)	C445S	probably benign	Het
Syne2	A	G	12: 76,037,197 (GRCm39)	E3792G	probably damaging	Het
T	G	A	17: 8,654,988 (GRCm39)	V173M	probably damaging	Het
Tsr1	T	C	11: 74,799,225 (GRCm39)	M802T	possibly damaging	Het
Ttll4	A	G	1: 74,720,482 (GRCm39)	N499S	probably benign	Het
Vmn1r195	T	C	13: 22,463,273 (GRCm39)	Y248H	probably damaging	Het
Ybx3	G	A	6: 131,345,426 (GRCm39)	R316C	probably benign	Het
Zc3h7b	C	T	15: 81,676,505 (GRCm39)	P749L	probably damaging	Het
Zfp607a	A	T	7: 27,578,704 (GRCm39)	K591N	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
IGL02452:Txnrd3	APN	6	89,651,777 (GRCm39)	makesense	probably null
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

Predicted Primers

PCR Primer
(F):5'- TAGTGACGAGACAACTTGCC -3'
(R):5'- AAACAGCATGGCTTCTGGG -3'

Sequencing Primer
(F):5'- TGACGAGACAACTTGCCAAAATG -3'
(R):5'- GTGGGTTCTACCAGTGACCTCAC -3'

Posted On

2022-11-14