Mutagenetix > Incidental Mutation

Incidental Mutation 'R8350:Txnrd1'

660237

Institutional Source

Beutler Lab

Gene Symbol

Txnrd1

Ensembl Gene

ENSMUSG00000020250

Gene Name

thioredoxin reductase 1

Synonyms

TR alpha, TrxR1, TR1, TR

MMRRC Submission

067868-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8350 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82669785-82733546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82717759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 248 (I248V)

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 benign
Transcript: ENSMUST00000020484
AA Change: I248V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000020484
Gene: ENSMUSG00000020250
AA Change: I248V

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 benign
Transcript: ENSMUST00000218694

Predicted Effect

probably benign
Transcript: ENSMUST00000219368
AA Change: I362V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000219442
AA Change: I248V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000219962
AA Change: I248V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	G	T	5: 8,978,578 (GRCm39)		probably null	Het
Adam29	A	G	8: 56,325,224 (GRCm39)	V410A	possibly damaging	Het
Adamts3	T	C	5: 89,850,815 (GRCm39)	T575A	probably damaging	Het
Ankmy1	T	C	1: 92,804,353 (GRCm39)	K877E	possibly damaging	Het
Arpin	A	T	7: 79,581,615 (GRCm39)	I35N	possibly damaging	Het
BC030500	T	C	8: 59,365,388 (GRCm39)	I13T	unknown	Het
Bcas1	T	C	2: 170,248,220 (GRCm39)	N234D	possibly damaging	Het
Clca3a2	C	T	3: 144,783,668 (GRCm39)	G649E	probably benign	Het
Cnot2	A	T	10: 116,322,181 (GRCm39)	L516Q	probably damaging	Het
Ctdp1	C	A	18: 80,512,494 (GRCm39)	V90L	probably benign	Het
Cyb5b	A	G	8: 107,896,552 (GRCm39)	Y91C	possibly damaging	Het
Cystm1	T	C	18: 36,526,303 (GRCm39)		probably benign	Het
Dnhd1	C	A	7: 105,327,231 (GRCm39)	Q727K	probably damaging	Het
Dpf3	G	A	12: 83,397,625 (GRCm39)	R80C	probably damaging	Het
Ehmt2	C	T	17: 35,127,667 (GRCm39)	T882M	probably damaging	Het
Fam136a	A	G	6: 86,345,795 (GRCm39)	K104R	probably benign	Het
Fcgbp	T	C	7: 27,793,614 (GRCm39)	V1172A	probably benign	Het
Foxc1	C	T	13: 31,991,548 (GRCm39)	Q120*	probably null	Het
Grin1	G	A	2: 25,188,323 (GRCm39)	R448C	probably damaging	Het
Igsf10	G	A	3: 59,238,949 (GRCm39)	P411S	probably damaging	Het
Irgq	T	A	7: 24,233,165 (GRCm39)	D335E	probably benign	Het
Kndc1	A	G	7: 139,503,960 (GRCm39)	Y1088C	probably damaging	Het
Llgl1	A	G	11: 60,602,947 (GRCm39)	E874G	probably damaging	Het
Lrp8	A	G	4: 107,704,661 (GRCm39)	N168D	probably benign	Het
Lyst	T	A	13: 13,824,973 (GRCm39)	C1529*	probably null	Het
Mau2	A	T	8: 70,495,242 (GRCm39)	Y32N	probably damaging	Het
Mios	T	A	6: 8,227,998 (GRCm39)	N638K	probably benign	Het
Mki67	A	T	7: 135,300,200 (GRCm39)	D1611E	possibly damaging	Het
Mroh2a	G	A	1: 88,171,805 (GRCm39)		probably null	Het
Nek5	A	G	8: 22,603,688 (GRCm39)	V138A	probably damaging	Het
Opcml	A	T	9: 28,813,463 (GRCm39)	E251D	probably benign	Het
Or13c7e-ps1	T	A	4: 43,782,175 (GRCm39)	I52F	probably benign	Het
Or1j14	T	A	2: 36,418,176 (GRCm39)	Y251N	probably damaging	Het
Or1o1	A	T	17: 37,717,260 (GRCm39)	M274L	probably benign	Het
Pde1b	A	T	15: 103,411,901 (GRCm39)	M1L	probably benign	Het
Pias1	G	A	9: 62,859,266 (GRCm39)	H72Y	probably damaging	Het
Postn	G	A	3: 54,277,679 (GRCm39)	V225I	probably damaging	Het
Prickle2	A	G	6: 92,353,483 (GRCm39)	V661A	probably benign	Het
Ptpn1	T	A	2: 167,816,161 (GRCm39)	F225Y	probably damaging	Het
Ptprd	C	T	4: 75,868,898 (GRCm39)	V1425M	probably damaging	Het
Rbfox1	C	A	16: 7,094,954 (GRCm39)	S111R	probably benign	Het
Rbm24	T	C	13: 46,572,676 (GRCm39)		probably null	Het
Rlf	T	G	4: 121,027,954 (GRCm39)	K224T	probably damaging	Het
Scgb2b3	G	A	7: 31,061,485 (GRCm39)	L5F	probably damaging	Het
Sdr42e2	T	C	7: 120,419,873 (GRCm39)	L206P	probably damaging	Het
Serpinb9g	A	G	13: 33,676,854 (GRCm39)	E212G	probably damaging	Het
Sh3pxd2a	T	C	19: 47,257,146 (GRCm39)	Y524C	probably damaging	Het
Sh3pxd2a	C	A	19: 47,258,277 (GRCm39)	E475D	probably null	Het
Skil	A	G	3: 31,151,603 (GRCm39)	T42A	probably benign	Het
Sorcs2	A	G	5: 36,311,207 (GRCm39)	V203A	probably damaging	Het
Sugp2	C	T	8: 70,695,641 (GRCm39)	R205*	probably null	Het
Tle1	C	A	4: 72,057,203 (GRCm39)		probably benign	Het
Tmem63c	T	A	12: 87,119,660 (GRCm39)	L318Q	probably damaging	Het
Vmn2r79	T	A	7: 86,686,741 (GRCm39)	C707*	probably null	Het
Xdh	C	T	17: 74,241,837 (GRCm39)	G154D	probably damaging	Het
Xirp2	T	A	2: 67,355,713 (GRCm39)	D3491E	probably benign	Het
Yjefn3	A	G	8: 70,341,869 (GRCm39)	L77P	probably damaging	Het
Zer1	C	T	2: 29,991,862 (GRCm39)	E653K	probably damaging	Het
Zfyve27	T	C	19: 42,167,911 (GRCm39)	V151A	probably benign	Het
Zim1	T	A	7: 6,685,064 (GRCm39)	S129C	probably damaging	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
R2101:Txnrd1	UTSW	10	82,717,573 (GRCm39)	missense	probably damaging	1.00
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
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'- GGAAGACCCTAGTAGTTGGTG -3'
(R):5'- ACCGCTATGAAGGGATGCAG -3'

Sequencing Primer
(F):5'- AAGACCCTAGTAGTTGGTGCATCC -3'
(R):5'- CTGACGTGACACAGCAATGGTTC -3'

Posted On

2021-01-18