Mutagenetix > Incidental Mutation

Incidental Mutation 'R3700:Txn2'

269971

Institutional Source

Beutler Lab

Gene Symbol

Txn2

Ensembl Gene

ENSMUSG00000005354

Gene Name

thioredoxin 2

Synonyms

Trx2, 2510006J11Rik

MMRRC Submission

040693-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3700 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77799251-77813194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 77811976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 60 (T60M)

Ref Sequence

ENSEMBL: ENSMUSP00000098055 (fasta)

Gene Model

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

AlphaFold

P97493

Predicted Effect

probably benign
Transcript: ENSMUST00000005487
AA Change: T60M

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000005487
Gene: ENSMUSG00000005354
AA Change: T60M

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

possibly damaging
Transcript: ENSMUST00000100486
AA Change: T60M

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000098055
Gene: ENSMUSG00000005354
AA Change: T60M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109747
AA Change: T60M

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105369
Gene: ENSMUSG00000005354
AA Change: T60M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109748
AA Change: T60M

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105370
Gene: ENSMUSG00000005354
AA Change: T60M

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

unknown
Transcript: ENSMUST00000173631
AA Change: T23M

SMART Domains

Protein: ENSMUSP00000134682
Gene: ENSMUSG00000005354
AA Change: T23M

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: ENSMUST00000174468

SMART Domains

Protein: ENSMUSP00000133548
Gene: ENSMUSG00000005354

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	1	57	1.7e-18	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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

98% (51/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	G	A	18: 65,438,222 (GRCm39)	T1524I	probably damaging	Het
Ankrd29	G	A	18: 12,387,757 (GRCm39)	A275V	possibly damaging	Het
Arhgap26	T	A	18: 39,253,237 (GRCm39)	F221L	probably damaging	Het
Arhgap28	T	C	17: 68,208,361 (GRCm39)	S36G	probably damaging	Het
Bcl11a	A	G	11: 24,113,890 (GRCm39)	D411G	probably damaging	Het
Cdh23	C	A	10: 60,163,149 (GRCm39)		probably null	Het
Cnnm2	T	A	19: 46,750,990 (GRCm39)	I260N	probably damaging	Het
Coro6	T	C	11: 77,358,129 (GRCm39)	F238S	probably damaging	Het
Ddah1	G	A	3: 145,597,250 (GRCm39)	M162I	probably benign	Het
Dnah5	T	C	15: 28,387,937 (GRCm39)	I3132T	possibly damaging	Het
Drgx	A	T	14: 32,350,818 (GRCm39)	E218V	probably damaging	Het
Dync2i1	C	T	12: 116,175,462 (GRCm39)	W905*	probably null	Het
Eif3f	A	T	7: 108,539,482 (GRCm39)	I251F	probably benign	Het
Ephx4	T	C	5: 107,550,673 (GRCm39)	F11L	probably benign	Het
Esp1	T	C	17: 41,041,998 (GRCm39)	S97P	unknown	Het
Fbxw10	A	T	11: 62,759,983 (GRCm39)		probably null	Het
Hsp90ab1	T	C	17: 45,882,440 (GRCm39)	T85A	possibly damaging	Het
Idh2	T	C	7: 79,748,895 (GRCm39)	K129E	probably damaging	Het
Kcnj6	A	G	16: 94,633,865 (GRCm39)	I64T	probably damaging	Het
Klk1b5	T	A	7: 43,500,251 (GRCm39)	C280S	probably damaging	Het
Lhx2	T	A	2: 38,250,111 (GRCm39)	L269H	probably damaging	Het
Lrrc71	T	A	3: 87,653,185 (GRCm39)		probably null	Het
Lss	T	A	10: 76,382,026 (GRCm39)	L484Q	probably damaging	Het
Mmp14	G	A	14: 54,669,389 (GRCm39)		probably benign	Het
Muc5b	A	G	7: 141,400,986 (GRCm39)	T534A	unknown	Het
Mysm1	T	C	4: 94,858,889 (GRCm39)	K87E	probably benign	Het
Or6d13	T	A	6: 116,517,489 (GRCm39)	V25E	probably benign	Het
Or6f2	C	G	7: 139,756,127 (GRCm39)	F37L	possibly damaging	Het
Pcolce	T	C	5: 137,607,309 (GRCm39)	T61A	probably damaging	Het
Phc3	C	A	3: 30,968,277 (GRCm39)	D920Y	probably damaging	Het
Pi4kb	T	C	3: 94,901,599 (GRCm39)	I422T	probably benign	Het
Piezo1	C	T	8: 123,221,642 (GRCm39)	R584H	probably damaging	Het
Plce1	T	A	19: 38,693,781 (GRCm39)	F768Y	probably damaging	Het
Ppp1r21	T	C	17: 88,889,882 (GRCm39)	S709P	possibly damaging	Het
Prdx6	T	C	1: 161,074,858 (GRCm39)	D74G	probably damaging	Het
Rlf	A	G	4: 121,008,060 (GRCm39)	F307L	possibly damaging	Het
Skic2	T	C	17: 35,068,879 (GRCm39)	E40G	probably benign	Het
Snapin	G	A	3: 90,397,499 (GRCm39)	R91*	probably null	Het
Sort1	T	A	3: 108,263,955 (GRCm39)	L838*	probably null	Het
Sstr4	A	G	2: 148,238,273 (GRCm39)	I295V	possibly damaging	Het
Stk39	T	A	2: 68,222,462 (GRCm39)	I201F	probably damaging	Het
Tasp1	T	C	2: 139,752,474 (GRCm39)	T322A	probably benign	Het
Tepsin	C	T	11: 119,982,579 (GRCm39)	C491Y	possibly damaging	Het
Tlr9	G	A	9: 106,101,278 (GRCm39)	V190M	probably damaging	Het
Ttf2	A	G	3: 100,858,324 (GRCm39)	L755P	probably damaging	Het
Vmn1r10	A	G	6: 57,091,287 (GRCm39)	N293S	probably benign	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Vmn2r111	C	T	17: 22,790,142 (GRCm39)	W288*	probably null	Het
Vmn2r118	T	C	17: 55,915,421 (GRCm39)	S510G	possibly damaging	Het
Zgpat	T	A	2: 181,007,439 (GRCm39)		probably benign	Het
Zzef1	G	T	11: 72,777,598 (GRCm39)	G1810C	probably null	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
R4515:Txn2	UTSW	15	77,799,643 (GRCm39)	splice site	probably null
R5897:Txn2	UTSW	15	77,808,726 (GRCm39)	missense	probably benign	0.43
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

PCR Primer
(F):5'- GCATTACACATGGTAGAGAGCC -3'
(R):5'- TGTTGACTTCCTATTGCATGGC -3'

Sequencing Primer
(F):5'- TAGAGAGCCATAGTGAGCCCTC -3'
(R):5'- TTGCTCCCACAGATGGCTCAG -3'

Posted On

2015-03-18