Mutagenetix > Incidental Mutation

Incidental Mutation 'R2088:Txnrd1'

231597

Institutional Source

Beutler Lab

Gene Symbol

Txnrd1

Ensembl Gene

ENSMUSG00000020250

Gene Name

thioredoxin reductase 1

Synonyms

TR alpha, TrxR1, TR1, TR

MMRRC Submission

040093-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2088 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82669785-82733546 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 82719744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000020484
Gene: ENSMUSG00000020250

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

noncoding transcript
Transcript: ENSMUST00000218724

Predicted Effect

probably benign
Transcript: ENSMUST00000219368

Predicted Effect

probably benign
Transcript: ENSMUST00000219442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219911

Predicted Effect

probably benign
Transcript: ENSMUST00000219962

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (66/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankk1	T	C	9: 49,333,265 (GRCm39)		probably benign	Het
Ano5	T	A	7: 51,237,454 (GRCm39)	N759K	possibly damaging	Het
Arhgef10	A	G	8: 15,033,898 (GRCm39)	T1072A	possibly damaging	Het
BC107364	T	C	3: 96,341,745 (GRCm39)	T93A	unknown	Het
Canx	C	T	11: 50,201,217 (GRCm39)	E97K	possibly damaging	Het
Casp8ap2	T	C	4: 32,631,126 (GRCm39)	L62P	probably damaging	Het
Cbfa2t3	C	T	8: 123,364,725 (GRCm39)		probably benign	Het
Cmklr2	A	T	1: 63,222,811 (GRCm39)		probably null	Het
Cmya5	A	T	13: 93,229,320 (GRCm39)	S1923T	probably damaging	Het
Cntnap1	T	A	11: 101,073,373 (GRCm39)	I618N	probably damaging	Het
Cox17	C	G	16: 38,167,542 (GRCm39)	P27R	probably damaging	Het
Ctnna3	A	G	10: 64,708,986 (GRCm39)	E675G	probably damaging	Het
Cul9	A	G	17: 46,837,575 (GRCm39)	L990P	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Eif2d	T	C	1: 131,092,464 (GRCm39)	V374A	probably damaging	Het
Fhdc1	T	C	3: 84,382,033 (GRCm39)		probably benign	Het
Fryl	T	A	5: 73,222,804 (GRCm39)	I1926F	probably benign	Het
Galnt4	A	G	10: 98,945,046 (GRCm39)	D257G	probably damaging	Het
Gatm	A	G	2: 122,428,629 (GRCm39)	V344A	probably benign	Het
Gli1	T	G	10: 127,167,369 (GRCm39)	Y628S	probably damaging	Het
Gsdmc3	A	C	15: 63,732,063 (GRCm39)		probably null	Het
Hap1	T	C	11: 100,246,828 (GRCm39)	T26A	probably benign	Het
Helz2	C	T	2: 180,876,895 (GRCm39)	G1200S	probably benign	Het
Insyn1	T	C	9: 58,406,288 (GRCm39)	F66S	probably damaging	Het
Iqgap2	C	T	13: 96,028,171 (GRCm39)		probably null	Het
Itga3	T	A	11: 94,943,320 (GRCm39)	I895F	probably benign	Het
Klhl33	A	T	14: 51,130,230 (GRCm39)	C421*	probably null	Het
Klra2	T	C	6: 131,219,789 (GRCm39)	T131A	probably damaging	Het
Krt14	T	C	11: 100,094,949 (GRCm39)	E426G	possibly damaging	Het
Limd2	A	G	11: 106,049,568 (GRCm39)	F107L	probably damaging	Het
Lipo4	A	T	19: 33,477,469 (GRCm39)	N318K	possibly damaging	Het
Mab21l2	T	G	3: 86,454,316 (GRCm39)	D228A	probably damaging	Het
Moxd2	G	A	6: 40,861,901 (GRCm39)	H224Y	probably damaging	Het
Mpp4	T	C	1: 59,162,624 (GRCm39)	Y521C	possibly damaging	Het
Msto1	C	T	3: 88,818,297 (GRCm39)	A317T	probably damaging	Het
Mtmr4	T	C	11: 87,501,793 (GRCm39)	S559P	probably damaging	Het
Muc4	T	A	16: 32,576,783 (GRCm39)	H2094Q	unknown	Het
Ndufa11	C	A	17: 57,024,922 (GRCm39)	T28K	probably damaging	Het
Or2b4	A	G	17: 38,116,686 (GRCm39)	T217A	probably benign	Het
Or4f4b	G	T	2: 111,314,623 (GRCm39)	A283S	probably damaging	Het
Orai2	C	A	5: 136,179,610 (GRCm39)	R155L	probably damaging	Het
Pde4c	A	G	8: 71,202,005 (GRCm39)	D582G	possibly damaging	Het
Pde4dip	T	C	3: 97,661,749 (GRCm39)	E609G	probably null	Het
Prune2	A	G	19: 17,097,109 (GRCm39)	D871G	possibly damaging	Het
Rbpms2	T	A	9: 65,538,121 (GRCm39)	L4Q	probably damaging	Het
Rhbg	T	C	3: 88,154,765 (GRCm39)	Y213C	probably damaging	Het
Rplp0	T	A	5: 115,700,562 (GRCm39)	N243K	possibly damaging	Het
Rtp4	A	T	16: 23,431,963 (GRCm39)	H165L	possibly damaging	Het
Ryr2	C	A	13: 11,677,115 (GRCm39)	M3245I	probably benign	Het
Sh2b2	T	A	5: 136,260,968 (GRCm39)	M83L	possibly damaging	Het
Simc1	T	C	13: 54,689,347 (GRCm39)	I284T	probably damaging	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc46a1	T	C	11: 78,359,471 (GRCm39)	S368P	possibly damaging	Het
St6galnac1	A	G	11: 116,659,933 (GRCm39)	S127P	probably benign	Het
Tatdn3	A	G	1: 190,785,073 (GRCm39)	I192T	possibly damaging	Het
Tmem25	C	A	9: 44,707,383 (GRCm39)	V239F	possibly damaging	Het
Tprkb	A	C	6: 85,909,922 (GRCm39)		probably benign	Het
Trappc10	A	G	10: 78,032,168 (GRCm39)	V1040A	probably benign	Het
Uhrf1	A	T	17: 56,625,089 (GRCm39)	K544M	probably damaging	Het
Unc80	T	A	1: 66,629,386 (GRCm39)	H1294Q	possibly damaging	Het
Uspl1	T	A	5: 149,146,560 (GRCm39)	I437K	probably damaging	Het
Vmn1r232	A	T	17: 21,133,999 (GRCm39)	N200K	possibly damaging	Het
Vmn2r19	A	T	6: 123,312,795 (GRCm39)	I622F	probably damaging	Het
Znfx1	A	G	2: 166,897,730 (GRCm39)	F398S	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
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
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'- GAGCGTGCTATGTGTTCTCCAC -3'
(R):5'- GCAAAGAGCAGGGGCATTTC -3'

Sequencing Primer
(F):5'- AGCCTCTCAAGCAAGTGGTGTTAG -3'
(R):5'- TTTCAGAGAGGAAAGTCACCC -3'

Posted On

2014-09-18