Mutagenetix > Incidental Mutation

Incidental Mutation 'R2101:Txnrd1'

230510

Institutional Source

Beutler Lab

Gene Symbol

Txnrd1

Ensembl Gene

ENSMUSG00000020250

Gene Name

thioredoxin reductase 1

Synonyms

TR alpha, TrxR1, TR1, TR

MMRRC Submission

040105-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2101 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82669785-82733546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 82717573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 186 (L186V)

Ref Sequence

ENSEMBL: ENSMUSP00000151825 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020484] [ENSMUST00000218694] [ENSMUST00000219368] [ENSMUST00000219442] [ENSMUST00000219962]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000020484
AA Change: L186V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000020484
Gene: ENSMUSG00000020250
AA Change: L186V

Domain	Start	End	E-Value	Type
Pfam:Pyr_redox_2	13	350	9.7e-69	PFAM
Pfam:FAD_binding_2	14	69	2.6e-8	PFAM
Pfam:Pyr_redox	192	273	1.3e-18	PFAM
Pfam:Pyr_redox_dim	370	483	8.4e-31	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000218694
AA Change: L117V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219368
AA Change: L300V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219442
AA Change: L186V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219911

Predicted Effect

probably damaging
Transcript: ENSMUST00000219962
AA Change: L186V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.7203

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: This gene encodes a member of the family of pyridine nucleotide-disulfide oxidoreductases. This protein is a flavoenzyme, which uses NADPH for reduction of thioredoxins as well as other protein and nonprotein substrates, and plays a role in protection against oxidative stress. It contains a selenocysteine (Sec) residue, which is essential for catalytic activity. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit early embryonic lethality (by E10.5) and display severe growth retardation and fail to turn. Embryos also exhibit decreased cell proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	G	A	2: 103,397,207 (GRCm39)	A46T	probably benign	Het
Agap3	T	A	5: 24,692,797 (GRCm39)	L47Q	probably damaging	Het
Apaf1	T	G	10: 90,895,942 (GRCm39)	I377L	probably benign	Het
Astn2	G	A	4: 65,499,923 (GRCm39)	R937*	probably null	Het
Cacnb1	A	C	11: 97,896,554 (GRCm39)	V369G	probably damaging	Het
Cdc42bpa	G	T	1: 179,974,533 (GRCm39)	V1464L	probably benign	Het
Cdkn2aip	A	T	8: 48,166,036 (GRCm39)	M90K	probably damaging	Het
Chd3	A	T	11: 69,239,877 (GRCm39)	D1650E	probably benign	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Clca3a2	T	C	3: 144,783,699 (GRCm39)	T639A	probably damaging	Het
Cluh	G	T	11: 74,551,328 (GRCm39)		probably benign	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Col11a2	A	T	17: 34,271,143 (GRCm39)	D528V	probably damaging	Het
Cyfip2	A	G	11: 46,133,270 (GRCm39)	L810P	probably damaging	Het
D430041D05Rik	A	G	2: 103,979,175 (GRCm39)	V2084A	probably damaging	Het
Dcc	G	A	18: 71,943,941 (GRCm39)	H237Y	possibly damaging	Het
Ddx60	T	A	8: 62,393,679 (GRCm39)	F38L	probably damaging	Het
Dio2	T	C	12: 90,696,597 (GRCm39)	*130W	probably null	Het
Dock5	G	T	14: 68,031,459 (GRCm39)	F990L	probably benign	Het
Dpy19l1	A	T	9: 24,393,331 (GRCm39)	V146E	probably damaging	Het
Dscam	T	C	16: 96,411,549 (GRCm39)	T1776A	probably benign	Het
Enpep	C	T	3: 129,092,587 (GRCm39)	S532N	probably benign	Het
Gdf6	A	G	4: 9,860,025 (GRCm39)	D369G	probably damaging	Het
Gtf2b	T	C	3: 142,477,144 (GRCm39)		probably benign	Het
Hmbox1	A	G	14: 65,066,028 (GRCm39)		probably benign	Het
Hps3	C	A	3: 20,066,947 (GRCm39)	V540F	possibly damaging	Het
Hsd3b6	T	A	3: 98,713,553 (GRCm39)	I249F	possibly damaging	Het
Hunk	T	A	16: 90,229,388 (GRCm39)		probably null	Het
Kidins220	T	A	12: 25,107,422 (GRCm39)	L1625Q	probably damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Myo10	T	A	15: 25,722,345 (GRCm39)	L186Q	probably benign	Het
N4bp2	T	A	5: 65,948,224 (GRCm39)	W285R	probably damaging	Het
Nat8l	T	C	5: 34,155,716 (GRCm39)	L124P	probably damaging	Het
Nemp2	T	C	1: 52,680,225 (GRCm39)		probably null	Het
Nkain2	G	A	10: 32,205,813 (GRCm39)	T74I	possibly damaging	Het
Nol4	A	G	18: 22,956,466 (GRCm39)	S239P	probably damaging	Het
Or4c118	T	A	2: 88,975,301 (GRCm39)	E22V	probably benign	Het
Pcbp3	T	C	10: 76,625,589 (GRCm39)	I152V	possibly damaging	Het
Pcp4l1	G	T	1: 171,003,174 (GRCm39)	P10Q	probably damaging	Het
Pla1a	T	C	16: 38,235,730 (GRCm39)	N135D	probably damaging	Het
Plb1	T	A	5: 32,507,004 (GRCm39)	M1193K	probably damaging	Het
Prc1	T	C	7: 79,962,032 (GRCm39)	V73A	probably benign	Het
Prkd2	T	A	7: 16,603,490 (GRCm39)	W807R	probably damaging	Het
Prp2rt	G	T	13: 97,235,730 (GRCm39)	R6S	probably damaging	Het
Ptprb	C	T	10: 116,150,943 (GRCm39)		probably benign	Het
Rb1cc1	A	G	1: 6,319,559 (GRCm39)	I993V	probably benign	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rev3l	T	C	10: 39,704,092 (GRCm39)	V2046A	probably benign	Het
Rnpep	G	T	1: 135,199,355 (GRCm39)	N334K	probably damaging	Het
Sarm1	G	A	11: 78,366,115 (GRCm39)	P695S	probably damaging	Het
Sf3a3	C	T	4: 124,612,136 (GRCm39)	T131I	possibly damaging	Het
Slc38a10	A	T	11: 120,023,567 (GRCm39)	V283E	probably damaging	Het
Slco6c1	A	T	1: 97,000,595 (GRCm39)	L552*	probably null	Het
Tas2r136	T	C	6: 132,754,495 (GRCm39)	M211V	probably benign	Het
Tax1bp3	G	A	11: 73,071,947 (GRCm39)	D65N	probably damaging	Het
Tdrd5	A	G	1: 156,129,209 (GRCm39)	F167S	probably damaging	Het
Tfeb	G	A	17: 48,100,590 (GRCm39)	V269M	probably damaging	Het
Tspan12	A	T	6: 21,799,887 (GRCm39)	F153L	probably benign	Het
Upk1b	A	T	16: 38,600,499 (GRCm39)	C160*	probably null	Het
Uty	T	C	Y: 1,176,541 (GRCm39)	Q172R	probably damaging	Het
Vmn1r23	T	C	6: 57,903,437 (GRCm39)	K114E	possibly damaging	Het
Vmn2r99	T	G	17: 19,598,253 (GRCm39)	N92K	probably damaging	Het
Vstm2a	T	A	11: 16,213,191 (GRCm39)	M192K	probably benign	Het
Zc3h12c	A	G	9: 52,027,721 (GRCm39)	V547A	probably benign	Het
Zfp944	T	A	17: 22,558,809 (GRCm39)	N146I	probably benign	Het

Other mutations in Txnrd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Txnrd1	APN	10	82,711,496 (GRCm39)	missense	probably damaging	1.00
IGL00644:Txnrd1	APN	10	82,721,010 (GRCm39)	splice site	probably benign
IGL01995:Txnrd1	APN	10	82,713,118 (GRCm39)	missense	probably damaging	1.00
IGL02167:Txnrd1	APN	10	82,717,745 (GRCm39)	missense	probably benign	0.01
IGL02368:Txnrd1	APN	10	82,731,808 (GRCm39)	splice site	probably null
IGL02500:Txnrd1	APN	10	82,715,051 (GRCm39)	missense	probably damaging	1.00
IGL02870:Txnrd1	APN	10	82,731,813 (GRCm39)	missense	probably benign	0.13
IGL03188:Txnrd1	APN	10	82,720,880 (GRCm39)	missense	possibly damaging	0.79
IGL03257:Txnrd1	APN	10	82,721,105 (GRCm39)	missense	probably benign	0.00
F6893:Txnrd1	UTSW	10	82,702,823 (GRCm39)	nonsense	probably null
R0092:Txnrd1	UTSW	10	82,715,636 (GRCm39)	missense	probably damaging	1.00
R2019:Txnrd1	UTSW	10	82,713,207 (GRCm39)	missense	probably benign	0.00
R2088:Txnrd1	UTSW	10	82,719,744 (GRCm39)	splice site	probably benign
R2120:Txnrd1	UTSW	10	82,723,067 (GRCm39)	missense	possibly damaging	0.86
R2696:Txnrd1	UTSW	10	82,721,116 (GRCm39)	missense	probably benign	0.05
R4058:Txnrd1	UTSW	10	82,721,114 (GRCm39)	missense	probably benign	0.03
R4059:Txnrd1	UTSW	10	82,721,114 (GRCm39)	missense	probably benign	0.03
R4879:Txnrd1	UTSW	10	82,717,751 (GRCm39)	splice site	probably null
R5582:Txnrd1	UTSW	10	82,731,814 (GRCm39)	missense	possibly damaging	0.72
R6870:Txnrd1	UTSW	10	82,709,042 (GRCm39)	missense	probably benign	0.45
R6965:Txnrd1	UTSW	10	82,717,652 (GRCm39)	missense	probably benign	0.02
R7336:Txnrd1	UTSW	10	82,709,051 (GRCm39)	missense	probably benign	0.00
R7449:Txnrd1	UTSW	10	82,721,067 (GRCm39)	nonsense	probably null
R8350:Txnrd1	UTSW	10	82,717,759 (GRCm39)	missense	probably benign	0.02
R8369:Txnrd1	UTSW	10	82,710,480 (GRCm39)	missense	probably benign	0.01
R9201:Txnrd1	UTSW	10	82,719,821 (GRCm39)	missense	probably benign	0.00
R9652:Txnrd1	UTSW	10	82,720,390 (GRCm39)	missense	possibly damaging	0.63
RF019:Txnrd1	UTSW	10	82,720,934 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGTATTGCCAACAAAGACGAGC -3'
(R):5'- GCCACTTACTTTCGTTGGGAC -3'

Sequencing Primer
(F):5'- AGACGAGCATCTAAGACCTTTTAG -3'
(R):5'- GGGACGAACTGCCTTATAAACTTG -3'

Posted On

2014-09-18