Mutagenetix > Incidental Mutation

Incidental Mutation 'R5897:Txn2'

457608

Institutional Source

Beutler Lab

Gene Symbol

Txn2

Ensembl Gene

ENSMUSG00000005354

Gene Name

thioredoxin 2

Synonyms

Trx2, 2510006J11Rik

MMRRC Submission

044096-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5897 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77799251-77813194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 77808726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 135 (A135V)

Ref Sequence

ENSEMBL: ENSMUSP00000105369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005487] [ENSMUST00000100486] [ENSMUST00000109747] [ENSMUST00000109748] [ENSMUST00000174529]

AlphaFold

P97493

Predicted Effect

probably benign
Transcript: ENSMUST00000005487

SMART Domains

Protein: ENSMUSP00000005487
Gene: ENSMUSG00000005354

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	61	164	7.8e-31	PFAM
Pfam:Thioredoxin_7	72	141	5.1e-9	PFAM
Pfam:Thioredoxin_2	74	161	2.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100486

SMART Domains

Protein: ENSMUSP00000098055
Gene: ENSMUSG00000005354

Domain	Start	End	E-Value	Type
PDB:1W89\|F	60	88	9e-14	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000109747
AA Change: A135V

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105369
Gene: ENSMUSG00000005354
AA Change: A135V

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	61	138	3.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109748

SMART Domains

Protein: ENSMUSP00000105370
Gene: ENSMUSG00000005354

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	61	164	2.6e-30	PFAM
Pfam:Thioredoxin_2	74	161	1.7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173631

SMART Domains

Protein: ENSMUSP00000134682
Gene: ENSMUSG00000005354

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	25	128	8.1e-31	PFAM
Pfam:Thioredoxin_2	38	125	4.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174529

SMART Domains

Protein: ENSMUSP00000133605
Gene: ENSMUSG00000005354

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	1	62	5.6e-19	PFAM
Pfam:Thioredoxin_7	3	80	1.5e-8	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nuclear gene encodes a mitochondrial member of the thioredoxin family, a group of small multifunctional redox-active proteins. The encoded protein may play important roles in the regulation of the mitochondrial membrane potential and in protection against oxidant-induced apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for mutations that inactivate the gene exhibit exencephaly and embyronic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,425,032 (GRCm39)	T489A	possibly damaging	Het
Adam3	T	C	8: 25,187,244 (GRCm39)	T416A	probably benign	Het
Agbl3	A	G	6: 34,780,508 (GRCm39)	I494V	probably benign	Het
Akap9	T	C	5: 4,127,904 (GRCm39)	S3747P	probably benign	Het
Arhgef18	G	T	8: 3,489,682 (GRCm39)	R338L	probably damaging	Het
Atg16l1	G	T	1: 87,713,719 (GRCm39)		probably null	Het
BC024139	A	G	15: 76,010,339 (GRCm39)	S56P	possibly damaging	Het
Ccdc121	T	C	5: 31,643,308 (GRCm39)		probably benign	Het
Ccdc175	T	A	12: 72,206,578 (GRCm39)	I223L	probably benign	Het
Cdcp3	A	T	7: 130,798,280 (GRCm39)		probably null	Het
Cep76	T	A	18: 67,771,398 (GRCm39)	Q78L	probably benign	Het
Cyp20a1	A	C	1: 60,392,220 (GRCm39)	N92T	probably damaging	Het
Cyp2c68	T	C	19: 39,700,975 (GRCm39)	D281G	probably benign	Het
Cyp2j12	T	C	4: 95,990,279 (GRCm39)	N429S	probably damaging	Het
Dchs2	G	A	3: 83,192,717 (GRCm39)	V1721I	possibly damaging	Het
Elovl4	G	A	9: 83,672,157 (GRCm39)	T54M	possibly damaging	Het
Fam13b	A	G	18: 34,587,134 (GRCm39)	V542A	possibly damaging	Het
Gje1	A	T	10: 14,592,467 (GRCm39)	I105N	probably damaging	Het
Grm4	G	T	17: 27,654,137 (GRCm39)	F349L	probably benign	Het
Hsd17b3	A	G	13: 64,236,799 (GRCm39)		probably null	Het
Khdrbs1	A	T	4: 129,614,448 (GRCm39)	D368E	probably benign	Het
Klra10	T	A	6: 130,258,792 (GRCm39)	R32*	probably null	Het
Lrrc7	T	A	3: 157,869,990 (GRCm39)	I644F	probably damaging	Het
Or2i1	A	T	17: 37,508,151 (GRCm39)	L161Q	probably damaging	Het
Or2t1	G	T	14: 14,328,120 (GRCm38)	G3V	probably benign	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pbx3	A	T	2: 34,261,920 (GRCm39)	S5T	probably benign	Het
Pcdhb13	T	A	18: 37,576,264 (GRCm39)	V214E	probably benign	Het
Pkd1l1	T	C	11: 8,829,176 (GRCm39)	D1022G	probably benign	Het
Pla2g4a	T	A	1: 149,740,899 (GRCm39)	K380I	probably damaging	Het
Prl3b1	A	G	13: 27,429,858 (GRCm39)	T99A	probably benign	Het
Prr12	C	T	7: 44,692,808 (GRCm39)	V1575I	probably damaging	Het
Ptpn5	C	T	7: 46,729,262 (GRCm39)	V451I	probably benign	Het
Rab1a	C	T	11: 20,168,867 (GRCm39)	R51*	probably null	Het
Skint9	A	G	4: 112,271,113 (GRCm39)	I99T	possibly damaging	Het
Tbc1d8	A	G	1: 39,431,190 (GRCm39)	V394A	possibly damaging	Het
Tcf20	A	T	15: 82,735,984 (GRCm39)	C1822*	probably null	Het
Tdrd6	T	A	17: 43,935,768 (GRCm39)	D1760V	probably damaging	Het
Tinag	C	A	9: 76,952,726 (GRCm39)	C86F	probably damaging	Het
Tmtc2	A	T	10: 105,249,459 (GRCm39)	N91K	probably damaging	Het
Tmub1	G	A	5: 24,651,925 (GRCm39)	T13M	probably benign	Het
Ush2a	G	A	1: 188,553,935 (GRCm39)	G3475R	probably damaging	Het
Usp38	T	C	8: 81,732,082 (GRCm39)	D276G	probably benign	Het
Vax1	T	A	19: 59,158,233 (GRCm39)	I77F	unknown	Het
Vmn2r108	C	T	17: 20,691,580 (GRCm39)	M314I	probably benign	Het
Vmn2r4	C	A	3: 64,322,687 (GRCm39)	G11*	probably null	Het
Zcchc14	T	C	8: 122,331,899 (GRCm39)		probably benign	Het

Other mutations in Txn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0611:Txn2	UTSW	15	77,811,917 (GRCm39)	missense	probably damaging	1.00
R0919:Txn2	UTSW	15	77,811,949 (GRCm39)	missense	probably damaging	1.00
R2504:Txn2	UTSW	15	77,810,870 (GRCm39)	intron	probably benign
R3700:Txn2	UTSW	15	77,811,976 (GRCm39)	missense	possibly damaging	0.69
R4515:Txn2	UTSW	15	77,799,643 (GRCm39)	splice site	probably null
R6879:Txn2	UTSW	15	77,803,922 (GRCm39)	intron	probably benign
R7101:Txn2	UTSW	15	77,810,878 (GRCm39)	missense	unknown
R7215:Txn2	UTSW	15	77,811,886 (GRCm39)	splice site	probably null
R9215:Txn2	UTSW	15	77,803,965 (GRCm39)	missense	unknown
R9719:Txn2	UTSW	15	77,812,289 (GRCm39)	unclassified	probably benign

Predicted Primers

Posted On

2017-02-15