Mutagenetix > Incidental Mutation

Incidental Mutation 'R8428:Txnrd2'

653624

Institutional Source

Beutler Lab

Gene Symbol

Txnrd2

Ensembl Gene

ENSMUSG00000075704

Gene Name

thioredoxin reductase 2

Synonyms

ESTM573010, TGR, TR beta, TR3

MMRRC Submission

067822-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8428 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18245167-18297823 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18275048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 353 (I353T)

Ref Sequence

ENSEMBL: ENSMUSP00000111267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115604] [ENSMUST00000115605] [ENSMUST00000115606] [ENSMUST00000177856] [ENSMUST00000178093] [ENSMUST00000205679] [ENSMUST00000206151] [ENSMUST00000206606]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000115604
AA Change: I353T

SMART Domains

Protein: ENSMUSP00000111267
Gene: ENSMUSG00000075704
AA Change: I353T

Domain	Start	End	E-Value	Type
low complexity region	8	36	N/A	INTRINSIC
Pfam:FAD_binding_2	41	95	9.7e-9	PFAM
Pfam:GIDA	41	200	2.5e-6	PFAM
Pfam:Pyr_redox_2	41	323	7.8e-29	PFAM
Pfam:Pyr_redox_3	43	253	4.1e-9	PFAM
Pfam:Pyr_redox	220	302	4.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115605

SMART Domains

Protein: ENSMUSP00000111268
Gene: ENSMUSG00000075704

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 benign
Transcript: ENSMUST00000115606

SMART Domains

Protein: ENSMUSP00000111269
Gene: ENSMUSG00000075704

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

probably benign
Transcript: ENSMUST00000177856

SMART Domains

Protein: ENSMUSP00000136402
Gene: ENSMUSG00000075704

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 benign
Transcript: ENSMUST00000178093

SMART Domains

Protein: ENSMUSP00000136373
Gene: ENSMUSG00000075704

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 benign
Transcript: ENSMUST00000205679

Predicted Effect

probably benign
Transcript: ENSMUST00000206151

Predicted Effect

probably benign
Transcript: ENSMUST00000206606

Coding Region Coverage

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

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	A	G	10: 126,923,175 (GRCm39)	I670V	unknown	Het
Bcan	G	T	3: 87,904,405 (GRCm39)	T117K	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Cbx8	C	A	11: 118,929,754 (GRCm39)	V280F	probably damaging	Het
Ccdc117	A	T	11: 5,484,350 (GRCm39)	S163R	possibly damaging	Het
Ccdc17	A	T	4: 116,456,823 (GRCm39)	I509F	probably damaging	Het
Cdon	T	C	9: 35,403,163 (GRCm39)	V1091A	probably benign	Het
Cntnap5b	C	T	1: 100,311,310 (GRCm39)	T972I	probably damaging	Het
Dlg2	T	C	7: 90,740,240 (GRCm39)	L9P	possibly damaging	Het
Dnah6	T	A	6: 73,051,634 (GRCm39)	R3053S	probably benign	Het
Dnah7a	T	A	1: 53,512,112 (GRCm39)	N2983I	probably damaging	Het
Dnah7c	T	C	1: 46,711,536 (GRCm39)	Y2588H	probably damaging	Het
Dpysl5	A	G	5: 30,902,811 (GRCm39)	D81G	probably damaging	Het
Dscaml1	A	G	9: 45,653,884 (GRCm39)	D1387G	probably benign	Het
Exd1	G	T	2: 119,369,348 (GRCm39)	T89K	possibly damaging	Het
Ezh2	T	A	6: 47,522,745 (GRCm39)	R364*	probably null	Het
Fam161b	C	T	12: 84,404,369 (GRCm39)	D104N	probably benign	Het
Fbxw8	C	A	5: 118,215,763 (GRCm39)	V416L	probably benign	Het
Flnc	A	T	6: 29,450,849 (GRCm39)	D1499V	probably benign	Het
Fmc1	A	T	6: 38,516,115 (GRCm39)	R54*	probably null	Het
Fzr1	A	G	10: 81,206,942 (GRCm39)	F61S	probably damaging	Het
Get4	T	G	5: 139,251,393 (GRCm39)	C160G	probably benign	Het
Gm32742	G	A	9: 51,055,675 (GRCm39)	R1330*	probably null	Het
Gnat3	G	A	5: 18,220,312 (GRCm39)	A225T	possibly damaging	Het
Gucy2c	A	G	6: 136,704,892 (GRCm39)	Y541H	probably damaging	Het
Hand2	A	G	8: 57,775,461 (GRCm39)	T174A	probably benign	Het
Helb	T	C	10: 119,927,522 (GRCm39)	T863A	probably damaging	Het
Hoxa7	A	T	6: 52,194,993 (GRCm39)	V2D	unknown	Het
Ifi44	G	A	3: 151,444,978 (GRCm39)	R325*	probably null	Het
Igfn1	C	T	1: 135,895,520 (GRCm39)	G1682E	probably damaging	Het
Itch	A	G	2: 155,010,627 (GRCm39)	N32D	probably benign	Het
Kif26b	T	C	1: 178,744,923 (GRCm39)	V1673A	probably benign	Het
Map1a	A	T	2: 121,135,418 (GRCm39)	D2078V	probably benign	Het
Mgat4b	G	T	11: 50,121,512 (GRCm39)	V35L	probably benign	Het
Micu3	G	A	8: 40,761,205 (GRCm39)	M38I	probably benign	Het
Myo15a	A	T	11: 60,387,241 (GRCm39)	H706L	probably damaging	Het
Ndc1	A	G	4: 107,226,017 (GRCm39)	T42A	probably benign	Het
Nfat5	T	A	8: 108,095,152 (GRCm39)	M1131K	probably damaging	Het
Nop14	G	A	5: 34,798,784 (GRCm39)	S648L	probably damaging	Het
Or51k1	G	T	7: 103,661,632 (GRCm39)	Y92*	probably null	Het
Otogl	A	G	10: 107,634,597 (GRCm39)	V1413A	probably damaging	Het
Palb2	T	A	7: 121,711,224 (GRCm39)	M967L	possibly damaging	Het
Pira12	G	A	7: 3,898,257 (GRCm39)	T355I	probably benign	Het
Ppa2	A	G	3: 133,053,904 (GRCm39)	K198R	probably damaging	Het
Prokr1	T	C	6: 87,565,756 (GRCm39)	T30A	probably benign	Het
Prss50	C	T	9: 110,687,128 (GRCm39)	R24C	unknown	Het
Rbm17	T	C	2: 11,605,441 (GRCm39)	T38A	possibly damaging	Het
Rps6ka5	G	A	12: 100,541,500 (GRCm39)	Q420*	probably null	Het
Senp6	G	T	9: 80,025,794 (GRCm39)	R448L	probably damaging	Het
Senp7	T	C	16: 55,999,391 (GRCm39)	I838T	probably damaging	Het
Sf3b2	C	T	19: 5,337,242 (GRCm39)	S329N	possibly damaging	Het
Slc13a4	A	T	6: 35,245,814 (GRCm39)	D610E	probably benign	Het
Slc24a2	A	G	4: 87,145,337 (GRCm39)	L239P	probably damaging	Het
Slc39a5	T	A	10: 128,232,884 (GRCm39)	H389L	probably damaging	Het
Syt4	A	G	18: 31,577,072 (GRCm39)	L94P	probably damaging	Het
Tgm5	A	G	2: 120,879,356 (GRCm39)	V560A	probably benign	Het
Thoc5	A	G	11: 4,876,115 (GRCm39)	T623A	probably damaging	Het
Tm7sf2	C	T	19: 6,113,074 (GRCm39)	V376I	probably benign	Het
Tmem268	T	A	4: 63,496,141 (GRCm39)	V194E	probably damaging	Het
Tpr	C	A	1: 150,290,564 (GRCm39)	R798S	probably damaging	Het
Trpv5	G	T	6: 41,630,182 (GRCm39)	T685K	possibly damaging	Het
Ttn	A	T	2: 76,584,774 (GRCm39)	N22141K	probably damaging	Het
Upk1a	A	G	7: 30,303,043 (GRCm39)	Y252H	probably damaging	Het
Vmn2r118	A	G	17: 55,915,642 (GRCm39)	I436T	probably benign	Het
Vmn2r76	T	A	7: 85,874,479 (GRCm39)	I833F	possibly damaging	Het
Zfp277	T	C	12: 40,379,577 (GRCm39)	H319R	probably damaging	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
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
T0975:Txnrd2	UTSW	16	18,294,315 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACTTGGGAGGATCATGCTTC -3'
(R):5'- AACAATCTGTGAAGGGTTGTGG -3'

Sequencing Primer
(F):5'- GCTTCTGGCAAGGAAGACAC -3'
(R):5'- TTGTGGAAGGCCTCACATAC -3'

Posted On

2020-10-20