Mutagenetix > Incidental Mutation

Incidental Mutation 'R6246:Txnrd3'

505775

Institutional Source

Beutler Lab

Gene Symbol

Txnrd3

Ensembl Gene

ENSMUSG00000000811

Gene Name

thioredoxin reductase 3

Synonyms

TR2, Tgr

MMRRC Submission

044436-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.695) question?

Stock #

R6246 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89620970-89652511 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89628523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 88 (N88S)

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: N88S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000000828
Gene: ENSMUSG00000000811
AA Change: N88S

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

unknown
Transcript: ENSMUST00000101171
AA Change: N88S

SMART Domains

Protein: ENSMUSP00000098730
Gene: ENSMUSG00000000811
AA Change: N88S

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

Meta Mutation Damage Score

0.0603

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

100% (78/78)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,850,999 (GRCm39)	V2110E	probably damaging	Het
Acaca	C	A	11: 84,206,796 (GRCm39)	T1552K	probably benign	Het
Aknad1	A	G	3: 108,659,148 (GRCm39)	D54G	probably damaging	Het
Ano1	T	C	7: 144,187,462 (GRCm39)	T435A	possibly damaging	Het
Azgp1	A	G	5: 137,983,475 (GRCm39)	D50G	possibly damaging	Het
Bbx	A	G	16: 50,045,023 (GRCm39)	S513P	probably benign	Het
Ccdc85a	C	T	11: 28,526,897 (GRCm39)	S209N	probably damaging	Het
Cdca2	T	A	14: 67,915,277 (GRCm39)	R661*	probably null	Het
Cdhr2	T	C	13: 54,867,523 (GRCm39)	V451A	probably damaging	Het
Cenpt	C	T	8: 106,575,891 (GRCm39)	G152S	possibly damaging	Het
Chd9	A	G	8: 91,659,045 (GRCm39)	T2A	probably damaging	Het
Chst14	G	A	2: 118,757,482 (GRCm39)	C117Y	probably damaging	Het
Cic	C	T	7: 24,971,067 (GRCm39)	T266M	probably damaging	Het
Clec12a	A	T	6: 129,330,733 (GRCm39)	N105I	possibly damaging	Het
Cmah	G	A	13: 24,650,773 (GRCm39)	V525M	probably damaging	Het
Cplane1	T	A	15: 8,239,498 (GRCm39)	L1233H	probably damaging	Het
Cpt1a	T	C	19: 3,426,550 (GRCm39)	L572P	probably damaging	Het
Crybg2	T	C	4: 133,816,657 (GRCm39)	L1365P	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dlg1	G	A	16: 31,484,468 (GRCm39)	S32N	probably benign	Het
Dnah14	T	C	1: 181,508,453 (GRCm39)	I1877T	probably benign	Het
Duox1	G	T	2: 122,157,655 (GRCm39)	G594C	probably damaging	Het
Eci2	T	C	13: 35,174,181 (GRCm39)	N127D	probably damaging	Het
Ecpas	A	G	4: 58,811,365 (GRCm39)		probably null	Het
Fat4	T	C	3: 38,945,870 (GRCm39)	S1588P	probably damaging	Het
Fer1l4	T	A	2: 155,866,902 (GRCm39)	I1489F	probably damaging	Het
Flrt3	A	G	2: 140,501,721 (GRCm39)	Y636H	probably damaging	Het
Frmd5	T	A	2: 121,381,529 (GRCm39)	H62L	possibly damaging	Het
Gm6309	A	T	5: 146,107,050 (GRCm39)	Y99N	probably damaging	Het
Gm8225	T	C	17: 26,762,652 (GRCm39)	V281A	probably benign	Het
Grep1	C	A	17: 23,929,465 (GRCm39)	G315*	probably null	Het
Grsf1	A	G	5: 88,810,451 (GRCm39)	L353P	possibly damaging	Het
Gtf2a1l	A	G	17: 88,978,975 (GRCm39)	R58G	probably benign	Het
Guf1	G	A	5: 69,715,898 (GRCm39)	G113R	probably damaging	Het
Hfe	A	T	13: 23,892,212 (GRCm39)	F51I	probably damaging	Het
Hibch	T	C	1: 52,943,801 (GRCm39)	S250P	probably damaging	Het
Il1rap	T	A	16: 26,533,631 (GRCm39)	M509K	probably benign	Het
Il4ra	T	C	7: 125,175,577 (GRCm39)	V595A	probably benign	Het
Ints11	A	G	4: 155,972,546 (GRCm39)	T460A	probably benign	Het
Itprid1	A	T	6: 55,944,657 (GRCm39)	K459N	probably damaging	Het
Kdm5a	G	A	6: 120,408,871 (GRCm39)	G1518E	probably damaging	Het
Khsrp	T	C	17: 57,332,324 (GRCm39)	D289G	possibly damaging	Het
Kif14	C	T	1: 136,404,162 (GRCm39)	Q29*	probably null	Het
Krt72	T	C	15: 101,689,372 (GRCm39)	K320R	probably damaging	Het
Lcmt2	A	G	2: 120,970,870 (GRCm39)	L71P	probably damaging	Het
Lmo7	A	T	14: 102,156,136 (GRCm39)	D1037V	probably damaging	Het
Lpo	T	C	11: 87,713,058 (GRCm39)	T15A	unknown	Het
Mia3	G	T	1: 183,126,720 (GRCm39)	T7N	probably damaging	Het
Muc16	A	T	9: 18,488,363 (GRCm39)		probably null	Het
Mup9	T	A	4: 60,375,809 (GRCm39)	Y29F	probably damaging	Het
Nisch	T	C	14: 30,894,516 (GRCm39)	D1105G	probably damaging	Het
Odad1	A	G	7: 45,585,788 (GRCm39)	I116V	probably damaging	Het
Oip5	T	C	2: 119,446,101 (GRCm39)	T136A	probably benign	Het
Or2a52	G	A	6: 43,144,436 (GRCm39)		probably null	Het
Osbpl10	C	A	9: 115,055,842 (GRCm39)	N532K	probably benign	Het
P2ry12	C	T	3: 59,124,950 (GRCm39)	V242I	probably benign	Het
Pdhx	A	T	2: 102,877,137 (GRCm39)	C26S	probably damaging	Het
Pgk2	A	T	17: 40,518,315 (GRCm39)	I371K	probably damaging	Het
Phyhip	T	C	14: 70,704,495 (GRCm39)	V238A	probably damaging	Het
Pla2g4a	G	A	1: 149,748,338 (GRCm39)	T282I	probably damaging	Het
Pld5	A	T	1: 175,791,475 (GRCm39)	C448*	probably null	Het
Plk1	T	A	7: 121,768,659 (GRCm39)	I553N	probably damaging	Het
Ppp1r13l	T	A	7: 19,103,783 (GRCm39)	I88K	probably benign	Het
Rad54l2	A	G	9: 106,577,692 (GRCm39)		probably null	Het
Septin7	A	G	9: 25,218,817 (GRCm39)	E428G	probably benign	Het
Serpina3j	G	A	12: 104,283,706 (GRCm39)	G268D	probably damaging	Het
Smc2	A	T	4: 52,460,289 (GRCm39)	D555V	probably damaging	Het
Spag16	A	T	1: 69,962,980 (GRCm39)	I376F	probably benign	Het
Spag6	G	A	2: 18,703,906 (GRCm39)		probably null	Het
Tecta	T	C	9: 42,289,204 (GRCm39)	I454V	probably benign	Het
Tlcd3b	T	A	7: 126,426,668 (GRCm39)	F30L	probably damaging	Het
Tm9sf1	C	T	14: 55,873,827 (GRCm39)	R557H	probably damaging	Het
Traf5	C	T	1: 191,754,853 (GRCm39)	E28K	probably damaging	Het
Trav23	G	A	14: 54,214,885 (GRCm39)	E33K	probably damaging	Het
Trim32	T	C	4: 65,532,801 (GRCm39)	S453P	probably damaging	Het
Tssk1	A	G	16: 17,713,303 (GRCm39)	T363A	probably benign	Het
Unc13b	A	G	4: 43,216,246 (GRCm39)	S182G	probably benign	Het
Vmn2r89	A	T	14: 51,693,503 (GRCm39)	R284S	probably damaging	Het
Zbtb14	A	G	17: 69,694,478 (GRCm39)	T59A	possibly damaging	Het
Zcchc2	T	A	1: 105,957,796 (GRCm39)	S756T	possibly damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TTCAGGTGTCCTCTGAAGGC -3'
(R):5'- TCAGGATTATCCCATACCCAGC -3'

Sequencing Primer
(F):5'- GTGTCCTCTGAAGGCATCACTG -3'
(R):5'- ATACCCAGCCCCTGTGC -3'

Posted On

2018-02-28