Mutagenetix > Incidental Mutation

Incidental Mutation 'R9727:Txnrd3'

731093

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: 0.695) question?

Stock #

R9727 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89620970-89652511 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89651751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 607 (D607G)

Ref Sequence

ENSEMBL: ENSMUSP00000000828 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000000828
AA Change: D607G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000000828
Gene: ENSMUSG00000000811
AA Change: D607G

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

SMART Domains

Protein: ENSMUSP00000098730
Gene: ENSMUSG00000000811
AA Change: D493G

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akirin2	A	G	4: 34,565,248 (GRCm39)	Y165C	probably damaging	Het
Aox4	A	G	1: 58,286,473 (GRCm39)	I702V	probably benign	Het
Arhgef33	A	G	17: 80,678,720 (GRCm39)	Y472C	probably damaging	Het
Atp13a4	T	G	16: 29,228,589 (GRCm39)	S964R		Het
Atp1a2	T	A	1: 172,118,936 (GRCm39)	I69F	probably benign	Het
Bub1	T	C	2: 127,652,609 (GRCm39)	D586G	possibly damaging	Het
Ccdc177	C	A	12: 80,806,044 (GRCm39)	A77S	probably benign	Het
Ccdc187	A	G	2: 26,171,204 (GRCm39)	W425R	probably damaging	Het
Ccn2	A	G	10: 24,471,820 (GRCm39)	E37G	probably benign	Het
Ccsap	T	C	8: 124,572,169 (GRCm39)	D111G	possibly damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Ceacam3	C	A	7: 16,892,262 (GRCm39)	T335K		Het
Col22a1	A	T	15: 71,849,123 (GRCm39)	W322R	probably damaging	Het
Col5a2	A	G	1: 45,415,818 (GRCm39)	V1443A	possibly damaging	Het
Dnah12	C	T	14: 26,523,510 (GRCm39)	Q2000*	probably null	Het
Dock7	G	T	4: 98,875,568 (GRCm39)	T1154K	unknown	Het
Dot1l	T	C	10: 80,628,382 (GRCm39)	L1140P	unknown	Het
Dst	G	A	1: 34,314,877 (GRCm39)	V4489M	probably damaging	Het
Duox2	G	A	2: 122,116,998 (GRCm39)	R960*	probably null	Het
Elavl2	T	C	4: 91,169,495 (GRCm39)	I97V	probably benign	Het
Emp1	G	T	6: 135,358,016 (GRCm39)	A121S	probably benign	Het
Exph5	A	T	9: 53,287,702 (GRCm39)	R1594S	probably damaging	Het
Fam186b	C	T	15: 99,171,669 (GRCm39)	M859I	probably benign	Het
Fat2	A	G	11: 55,159,137 (GRCm39)	V3345A	probably damaging	Het
Gtf2f1	A	T	17: 57,318,005 (GRCm39)	N10K	possibly damaging	Het
Hid1	T	G	11: 115,245,939 (GRCm39)	K384N	probably damaging	Het
Hmcn1	T	C	1: 150,674,566 (GRCm39)	R579G	probably benign	Het
Igf1r	T	A	7: 67,857,554 (GRCm39)	V1078D	probably damaging	Het
Il20rb	A	T	9: 100,357,001 (GRCm39)	M43K	probably damaging	Het
Kdm3a	A	T	6: 71,569,094 (GRCm39)	Y1134*	probably null	Het
Kif12	T	A	4: 63,085,978 (GRCm39)	N429I	probably damaging	Het
Kif18a	C	T	2: 109,118,464 (GRCm39)	T93I	probably damaging	Het
Krtap9-5	T	A	11: 99,839,340 (GRCm39)	C14S	possibly damaging	Het
Lgals8	A	T	13: 12,462,038 (GRCm39)	M264K	possibly damaging	Het
Mlxipl	T	A	5: 135,150,388 (GRCm39)	C143*	probably null	Het
Mtcl2	T	A	2: 156,862,168 (GRCm39)	Q1587L	possibly damaging	Het
Mvp	A	T	7: 126,595,040 (GRCm39)	H268Q	probably damaging	Het
Ngef	G	A	1: 87,431,010 (GRCm39)	P269L	probably damaging	Het
Nos2	A	G	11: 78,843,825 (GRCm39)	Y924C	possibly damaging	Het
Or4f52	A	T	2: 111,061,961 (GRCm39)	M59K	probably damaging	Het
Phf20l1	A	G	15: 66,487,231 (GRCm39)	N449S	probably benign	Het
Pot1b	A	C	17: 55,999,795 (GRCm39)	I210S	possibly damaging	Het
Ptrh1	T	A	2: 32,665,854 (GRCm39)	W5R	probably benign	Het
Rasgrp3	A	G	17: 75,810,239 (GRCm39)	H313R	probably damaging	Het
Ric1	A	T	19: 29,575,258 (GRCm39)	I984F	probably damaging	Het
Rin2	G	A	2: 145,702,506 (GRCm39)	A401T	possibly damaging	Het
Rmdn3	C	A	2: 118,968,827 (GRCm39)		probably null	Het
Senp7	A	T	16: 55,990,169 (GRCm39)	H639L	probably benign	Het
Sipa1l1	T	C	12: 82,471,829 (GRCm39)	S1270P	probably damaging	Het
Slc22a28	T	A	19: 8,108,818 (GRCm39)	E108V	probably benign	Het
Slc7a5	A	G	8: 122,613,085 (GRCm39)	I331T	probably benign	Het
Smarca4	T	C	9: 21,611,160 (GRCm39)	Y1467H	probably damaging	Het
Srebf2	T	A	15: 82,076,506 (GRCm39)	F759I	possibly damaging	Het
Thumpd2	A	T	17: 81,345,585 (GRCm39)	D304E	probably damaging	Het
Tmem59	A	G	4: 107,050,547 (GRCm39)	E226G	probably benign	Het
Trpv1	A	C	11: 73,130,347 (GRCm39)	D151A	probably damaging	Het
Ubr4	T	A	4: 139,140,735 (GRCm39)	V1218E	probably damaging	Het
Ugt2b5	T	A	5: 87,288,165 (GRCm39)	M1L	probably damaging	Het
Vwa5b2	C	T	16: 20,423,477 (GRCm39)	A1130V	probably damaging	Het
Wdr4	T	C	17: 31,718,045 (GRCm39)	E343G	probably benign	Het
Zbtb34	C	A	2: 33,301,533 (GRCm39)	R336L	probably benign	Het
Zfp607b	T	C	7: 27,403,125 (GRCm39)	V527A	probably benign	Het
Zfp949	T	A	9: 88,451,913 (GRCm39)	C494*	probably null	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
R9802:Txnrd3	UTSW	6	89,640,176 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCTTTAACTAGCCTAGCTTCAAAAC -3'
(R):5'- TTCCGAGCCAAGGTGTCAAG -3'

Sequencing Primer
(F):5'- CTAGCCTAGCTTCAAAACAATTTTG -3'
(R):5'- TCAGCTGAGACTCCAGATGCTG -3'

Posted On

2022-10-06