Mutagenetix > Incidental Mutation

Incidental Mutation 'T0975:Txnrd2'

67734

Institutional Source

Beutler Lab

Gene Symbol

Txnrd2

Ensembl Gene

ENSMUSG00000075704

Gene Name

thioredoxin reductase 2

Synonyms

ESTM573010, TGR, TR beta, TR3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

T0975 (G3) of strain 714

Quality Score

195

Status

Not validated

Chromosome

Chromosomal Location

18245167-18297823 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18294315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 436 (H436R)

Ref Sequence

ENSEMBL: ENSMUSP00000146143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115605] [ENSMUST00000115606] [ENSMUST00000177856] [ENSMUST00000178093] [ENSMUST00000205679] [ENSMUST00000206606] [ENSMUST00000206151]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000115605
AA Change: H448R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111268
Gene: ENSMUSG00000075704
AA Change: H448R

Domain	Start	End	E-Value	Type
low complexity region	8	36	N/A	INTRINSIC
Pfam:FAD_binding_2	41	95	8.4e-7	PFAM
Pfam:GIDA	41	208	1.8e-4	PFAM
Pfam:Pyr_redox_2	41	365	1.2e-39	PFAM
Pfam:Pyr_redox_3	43	253	8.2e-7	PFAM
Pfam:Pyr_redox	220	302	5.7e-13	PFAM
Pfam:Pyr_redox_dim	388	477	3.5e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115606
AA Change: H467R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111269
Gene: ENSMUSG00000075704
AA Change: H467R

Domain	Start	End	E-Value	Type
low complexity region	8	36	N/A	INTRINSIC
Pfam:Pyr_redox_2	40	375	2.4e-71	PFAM
Pfam:FAD_binding_2	41	90	2.9e-8	PFAM
Pfam:Pyr_redox	220	299	2.1e-15	PFAM
Pfam:Pyr_redox_dim	395	508	7.6e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149937

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153457

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156604

Predicted Effect

probably damaging
Transcript: ENSMUST00000177856
AA Change: H464R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136402
Gene: ENSMUSG00000075704
AA Change: H464R

Domain	Start	End	E-Value	Type
low complexity region	8	36	N/A	INTRINSIC
Pfam:FAD_binding_2	41	95	1.3e-8	PFAM
Pfam:GIDA	41	240	6.2e-7	PFAM
Pfam:Pyr_redox_2	41	365	3.9e-38	PFAM
Pfam:Pyr_redox	226	302	1.3e-10	PFAM
Pfam:Pyr_redox_dim	395	508	1.2e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000178093
AA Change: H433R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136373
Gene: ENSMUSG00000075704
AA Change: H433R

Domain	Start	End	E-Value	Type
low complexity region	8	36	N/A	INTRINSIC
Pfam:FAD_binding_2	41	95	9e-7	PFAM
Pfam:GIDA	41	201	1.9e-4	PFAM
Pfam:Pyr_redox_2	41	365	2.3e-36	PFAM
Pfam:Pyr_redox	226	302	1.2e-8	PFAM
Pfam:Pyr_redox_dim	388	477	3.5e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000205679
AA Change: H445R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206606
AA Change: H436R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206151
AA Change: H467R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.0%
20x: 93.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene product belongs to the family of pyridine nucleotide-disulfide oxidoreductases. It is a mitochondrial enzyme that catalyzes the reduction of thioredoxin, and is implicated in the defense against oxidative stress. This protein contains a 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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die at E13 due to severe anemia and growth retardation, resulting from perturbed cardiac development and augmented apoptosis of hematopoietic cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	TAA	TAAA	11: 3,887,945 (GRCm39)		probably null	Het
4930556J24Rik	C	T	11: 3,926,324 (GRCm39)	A27T	unknown	Het
Ago3	C	T	4: 126,298,056 (GRCm39)	V155I	probably benign	Het
Ago3	G	A	4: 126,298,103 (GRCm39)	A139V	probably benign	Het
Ago3	C	T	4: 126,298,098 (GRCm39)	A141T	probably benign	Het
Ahdc1	ACCTCCT	ACCTCCTCCT	4: 132,790,065 (GRCm39)		probably benign	Het
Azin2	A	G	4: 128,839,927 (GRCm39)	Y222H	probably benign	Het
Bpifb5	C	A	2: 154,071,384 (GRCm39)		probably null	Het
Castor1	G	C	11: 4,170,445 (GRCm39)	G147A	probably benign	Het
Ccdc157	C	T	11: 4,096,246 (GRCm39)	A455T	probably damaging	Het
Ccng1	A	C	11: 40,644,871 (GRCm39)	S9A	probably benign	Het
Cfh	T	C	1: 140,082,336 (GRCm39)	T164A	probably benign	Het
Cherp	TTGGACCTGGACCTGGACCTGGACCTGGA	TTGGACCTGGACCTGGACCTGGA	8: 73,215,878 (GRCm39)		probably benign	Het
Chrng	T	C	1: 87,138,348 (GRCm39)	S380P	probably benign	Het
Clspn	ACGGCGGCGGCGGCG	ACGGCGGCGGCGGCGGCGGCG	4: 126,460,230 (GRCm39)		probably benign	Het
Ctrc	T	TA	4: 141,572,507 (GRCm39)		probably null	Het
Cxxc1	C	T	18: 74,353,992 (GRCm39)	R593C	probably damaging	Het
Dlgap1	T	C	17: 70,823,950 (GRCm39)	S312P	possibly damaging	Het
Dnah10	A	G	5: 124,840,130 (GRCm39)	S1255G	probably benign	Het
Dpep1	A	T	8: 123,927,727 (GRCm39)	S388C	probably damaging	Het
Emid1	T	C	11: 5,094,386 (GRCm39)	T42A	probably damaging	Het
Emid1	A	C	11: 5,078,884 (GRCm39)	L353V	probably benign	Het
Epn3	A	G	11: 94,382,733 (GRCm39)		probably null	Het
Fam124b	T	C	1: 80,190,843 (GRCm39)	E180G	probably benign	Het
Fam135b	T	G	15: 71,335,734 (GRCm39)	T487P	probably damaging	Het
Gja4	G	C	4: 127,206,024 (GRCm39)	H246Q	probably benign	Het
Gm9972	GA	GAA	11: 42,927,597 (GRCm39)		probably null	Het
Hmmr	G	C	11: 40,614,243 (GRCm39)	N148K	probably damaging	Het
Homez	C	T	14: 55,094,796 (GRCm39)	R304K	possibly damaging	Het
Ifngr1	G	A	10: 19,485,221 (GRCm39)	V407M	probably damaging	Het
Inpp5j	G	T	11: 3,452,527 (GRCm39)	T241N	possibly damaging	Het
Kif12	GGGGC	GGGGCCTCCACCCGGCGGGC	4: 63,089,660 (GRCm39)		probably benign	Het
Kremen1	C	T	11: 5,145,105 (GRCm39)	A424T	probably benign	Het
Mat2b	G	A	11: 40,570,918 (GRCm39)	T302I	probably benign	Het
Mtmr3	C	T	11: 4,438,441 (GRCm39)	R671K	probably benign	Het
Nacad	A	G	11: 6,551,632 (GRCm39)	C520R	probably benign	Het
Nacad	GCAGGGTCAGGGTC	GCAGGGTCAGGGTCAGGGTC	11: 6,549,750 (GRCm39)		probably benign	Het
Nacad	T	C	11: 6,551,622 (GRCm39)	N523S	probably benign	Het
Nefh	G	A	11: 4,890,151 (GRCm39)	P823S	probably benign	Het
Nfrkb	G	C	9: 31,308,379 (GRCm39)	A230P	probably benign	Het
Nlrp4a	A	G	7: 26,149,062 (GRCm39)	E223G	probably damaging	Het
Notch3	T	A	17: 32,365,391 (GRCm39)	Y1107F	probably damaging	Het
Or10ak9	G	T	4: 118,726,500 (GRCm39)	R174M	probably benign	Het
Or13g1	A	T	7: 85,955,492 (GRCm39)	Y276*	probably null	Het
Or6c35	A	G	10: 129,169,314 (GRCm39)	D188G	probably benign	Het
Osm	A	G	11: 4,189,588 (GRCm39)	D124G	probably benign	Het
Plekhm2	TTCCTCCTCCT	TTCCTCCT	4: 141,359,292 (GRCm39)		probably benign	Het
Pomgnt1	C	T	4: 115,994,624 (GRCm39)		probably benign	Het
Spen	A	G	4: 141,201,664 (GRCm39)	V2321A	probably benign	Het
Sytl1	TCTGC	TC	4: 132,984,305 (GRCm39)		probably benign	Het
Tcn2	G	C	11: 3,873,487 (GRCm39)	F286L	possibly damaging	Het
Tg	T	C	15: 66,560,712 (GRCm39)	S10P	probably benign	Het
Tmprss7	C	T	16: 45,501,096 (GRCm39)	R235Q	probably benign	Het
Tns3	G	A	11: 8,499,100 (GRCm39)		probably benign	Het
Tns3	G	T	11: 8,401,146 (GRCm39)	L1051M	probably benign	Het
Tns3	T	G	11: 8,429,518 (GRCm39)	E806A	probably benign	Het
Toe1	T	C	4: 116,663,290 (GRCm39)	I62M	probably benign	Het
Ubr4	C	T	4: 139,179,092 (GRCm39)	P2001S	probably damaging	Het
Vmn2r23	T	A	6: 123,690,120 (GRCm39)	M332K	probably benign	Het
Zbtb8a	GG	GGATG	4: 129,253,812 (GRCm39)		probably benign	Het
Zbtb8a	T	C	4: 129,254,005 (GRCm39)	H163R	probably benign	Het
Zfyve21	A	G	12: 111,794,067 (GRCm39)	D206G	probably damaging	Het
Zkscan4	AGAGGAG	AGAG	13: 21,663,370 (GRCm39)		probably benign	Het
Zmym1	A	C	4: 126,943,466 (GRCm39)	H307Q	probably benign	Het
Zmym1	C	T	4: 126,941,740 (GRCm39)	D785N	probably benign	Het
Zmym1	C	T	4: 126,942,043 (GRCm39)	V684I	probably benign	Het
Zpld2	GTG	GTGCTG	4: 133,929,940 (GRCm39)		probably benign	Het

Other mutations in Txnrd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Txnrd2	APN	16	18,257,101 (GRCm39)	missense	probably damaging	1.00
IGL00337:Txnrd2	APN	16	18,296,519 (GRCm39)	missense	probably damaging	1.00
IGL01988:Txnrd2	APN	16	18,274,768 (GRCm39)	splice site	probably benign
IGL02708:Txnrd2	APN	16	18,287,590 (GRCm39)	missense	probably benign	0.38
IGL02949:Txnrd2	APN	16	18,296,456 (GRCm39)	missense	probably benign	0.00
IGL03292:Txnrd2	APN	16	18,296,479 (GRCm39)	missense	possibly damaging	0.53
R0610:Txnrd2	UTSW	16	18,291,632 (GRCm39)	missense	probably damaging	0.96
R0723:Txnrd2	UTSW	16	18,259,629 (GRCm39)	splice site	probably benign
R1625:Txnrd2	UTSW	16	18,257,116 (GRCm39)	missense	probably damaging	1.00
R3000:Txnrd2	UTSW	16	18,273,263 (GRCm39)	missense	probably damaging	1.00
R4180:Txnrd2	UTSW	16	18,245,175 (GRCm39)	splice site	probably null
R4569:Txnrd2	UTSW	16	18,274,956 (GRCm39)	missense	probably benign
R4570:Txnrd2	UTSW	16	18,287,554 (GRCm39)	missense	probably benign	0.02
R4773:Txnrd2	UTSW	16	18,259,569 (GRCm39)	missense	probably benign	0.15
R5385:Txnrd2	UTSW	16	18,296,442 (GRCm39)	missense	probably damaging	1.00
R6074:Txnrd2	UTSW	16	18,256,297 (GRCm39)	missense	probably damaging	1.00
R7247:Txnrd2	UTSW	16	18,274,822 (GRCm39)	missense	probably damaging	0.99
R7630:Txnrd2	UTSW	16	18,257,140 (GRCm39)	missense	possibly damaging	0.69
R8343:Txnrd2	UTSW	16	18,245,291 (GRCm39)	missense	unknown
R8383:Txnrd2	UTSW	16	18,291,614 (GRCm39)	missense	possibly damaging	0.83
R8428:Txnrd2	UTSW	16	18,275,048 (GRCm39)	missense	unknown
R8852:Txnrd2	UTSW	16	18,259,601 (GRCm39)	missense	possibly damaging	0.54
R9100:Txnrd2	UTSW	16	18,256,315 (GRCm39)	missense	probably damaging	1.00
R9455:Txnrd2	UTSW	16	18,248,615 (GRCm39)	missense	probably damaging	0.99
T0970:Txnrd2	UTSW	16	18,260,523 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AATGGGGCTGCCTACAGTTACAATG -3'
(R):5'- GCAGGGTCACTGTCCAGACAATTC -3'

Sequencing Primer
(F):5'- ccaccacaatcaaggtaatgtag -3'
(R):5'- ACTGTCCAGACAATTCAGTTGC -3'

Posted On

2013-09-03