Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02500:Txnrd1'

295995

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Txnrd1

Ensembl Gene

ENSMUSG00000020250

Gene Name

thioredoxin reductase 1

Synonyms

TR1, TR, TrxR1, TR alpha

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02500

Quality Score

Status

Chromosome

Chromosomal Location

82833951-82897712 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 82879217 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 98 (W98G)

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: W98G

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

SMART Domains

Protein: ENSMUSP00000020484
Gene: ENSMUSG00000020250
AA Change: W98G

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: W29G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000219368
AA Change: W212G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000219442
AA Change: W98G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219911

Predicted Effect

probably damaging
Transcript: ENSMUST00000219962
AA Change: W98G

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

Coding Region Coverage

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,618,926	I409N	possibly damaging	Het
Aoc3	T	A	11: 101,337,389	L674*	probably null	Het
Arhgef10	G	A	8: 14,961,238	E265K	probably damaging	Het
Cd53	A	G	3: 106,768,826	I75T	probably damaging	Het
Col26a1	A	T	5: 136,754,339	L235*	probably null	Het
Crem	G	T	18: 3,273,477	Q60K	probably damaging	Het
Cyp2j8	T	C	4: 96,470,650	D344G	probably damaging	Het
Cyr61	T	C	3: 145,648,700	K152R	probably damaging	Het
Dchs1	T	C	7: 105,755,806	T2510A	probably benign	Het
Dnajc4	T	C	19: 6,988,088	Q215R	possibly damaging	Het
Espl1	A	G	15: 102,315,800	H1262R	probably benign	Het
Exoc2	G	T	13: 30,911,196	T239K	probably damaging	Het
Fzd6	A	T	15: 39,031,386	S316C	probably damaging	Het
Htra1	A	G	7: 130,984,974	K429R	probably benign	Het
Il1rapl2	C	T	X: 138,846,503	T647I	possibly damaging	Het
Kcnn3	T	A	3: 89,661,112		probably benign	Het
Kiz	G	A	2: 146,863,813	V98I	probably benign	Het
Klk1b24	A	T	7: 44,188,324		probably benign	Het
Lrrc30	T	A	17: 67,631,862	N241I	probably damaging	Het
Map2k4	A	G	11: 65,696,310	V288A	probably damaging	Het
Mefv	T	C	16: 3,713,577	H459R	probably damaging	Het
Mettl21a	G	T	1: 64,608,054	Q115K	probably benign	Het
Msra	A	G	14: 64,285,188		probably benign	Het
Myh8	G	A	11: 67,305,710	R1752H	probably benign	Het
Nrp1	T	C	8: 128,425,799	F163S	possibly damaging	Het
Ntng1	T	A	3: 110,135,330	Y60F	probably damaging	Het
Pax6	G	T	2: 105,692,770	R317L	probably benign	Het
Pcdh17	A	G	14: 84,533,469	E1129G	probably benign	Het
Phlpp2	C	T	8: 109,913,618	H472Y	probably benign	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Prkce	A	G	17: 86,168,914	N108D	probably benign	Het
Prkdc	T	G	16: 15,714,282		probably null	Het
Ptprm	T	C	17: 66,920,048	Y702C	probably damaging	Het
Rbbp8nl	T	C	2: 180,279,329	T421A	possibly damaging	Het
Retnlg	A	T	16: 48,872,960	L33F	probably benign	Het
Slc16a7	T	A	10: 125,230,933	Y279F	probably damaging	Het
Slc8a1	T	C	17: 81,388,713	Y964C	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Sspo	C	A	6: 48,478,379	C3047*	probably null	Het
Tmprss11b	C	T	5: 86,667,323		probably null	Het
Ulk1	A	T	5: 110,809,134	I66N	probably damaging	Het
Ush2a	A	G	1: 188,822,696	Y3557C	probably damaging	Het
Vmn2r57	T	A	7: 41,428,226	H172L	probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp592	T	A	7: 81,041,726	C1218S	probably benign	Het

Other mutations in Txnrd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Txnrd1	APN	10	82875662	missense	probably damaging	1.00
IGL00644:Txnrd1	APN	10	82885176	splice site	probably benign
IGL01995:Txnrd1	APN	10	82877284	missense	probably damaging	1.00
IGL02167:Txnrd1	APN	10	82881911	missense	probably benign	0.01
IGL02368:Txnrd1	APN	10	82895974	splice site	probably null
IGL02870:Txnrd1	APN	10	82895979	missense	probably benign	0.13
IGL03188:Txnrd1	APN	10	82885046	missense	possibly damaging	0.79
IGL03257:Txnrd1	APN	10	82885271	missense	probably benign	0.00
F6893:Txnrd1	UTSW	10	82866989	nonsense	probably null
R0092:Txnrd1	UTSW	10	82879802	missense	probably damaging	1.00
R2019:Txnrd1	UTSW	10	82877373	missense	probably benign	0.00
R2088:Txnrd1	UTSW	10	82883910	splice site	probably benign
R2101:Txnrd1	UTSW	10	82881739	missense	probably damaging	1.00
R2120:Txnrd1	UTSW	10	82887233	missense	possibly damaging	0.86
R2696:Txnrd1	UTSW	10	82885282	missense	probably benign	0.05
R4058:Txnrd1	UTSW	10	82885280	missense	probably benign	0.03
R4059:Txnrd1	UTSW	10	82885280	missense	probably benign	0.03
R4879:Txnrd1	UTSW	10	82881917	splice site	probably null
R5582:Txnrd1	UTSW	10	82895980	missense	possibly damaging	0.72
R6870:Txnrd1	UTSW	10	82873208	missense	probably benign	0.45
R6965:Txnrd1	UTSW	10	82881818	missense	probably benign	0.02
R7336:Txnrd1	UTSW	10	82873217	missense	probably benign	0.00
R7449:Txnrd1	UTSW	10	82885233	nonsense	probably null
R8350:Txnrd1	UTSW	10	82881925	missense	probably benign	0.02
R8369:Txnrd1	UTSW	10	82874646	missense	probably benign	0.01
R9201:Txnrd1	UTSW	10	82883987	missense	probably benign	0.00
R9652:Txnrd1	UTSW	10	82884556	missense	possibly damaging	0.63
RF019:Txnrd1	UTSW	10	82885100	critical splice donor site	probably null

Posted On

2015-04-16