Mutagenetix > Incidental Mutation

Incidental Mutation 'R0508:Txndc2'

47763

Institutional Source

Beutler Lab

Gene Symbol

Txndc2

Ensembl Gene

ENSMUSG00000050612

Gene Name

thioredoxin domain containing 2 (spermatozoa)

Synonyms

Sptrx-1

MMRRC Submission

038703-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R0508 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65944502-65949163 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65944948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 410 (I410F)

Ref Sequence

ENSEMBL: ENSMUSP00000054909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050236]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000050236
AA Change: I410F

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000054909
Gene: ENSMUSG00000050612
AA Change: I410F

Domain	Start	End	E-Value	Type
low complexity region	10	19	N/A	INTRINSIC
internal_repeat_1	70	232	1.7e-7	PROSPERO
internal_repeat_1	252	426	1.7e-7	PROSPERO
Pfam:Thioredoxin	447	548	3.6e-24	PFAM

Meta Mutation Damage Score

0.1060

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.0%

Validation Efficiency

99% (67/68)

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene displays normal reproductive system phenotype while results in increased body size, increased serum phosphorus level and decreased serum IL-6 response to LPS challenge. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,211,162 (GRCm39)	L632P	probably damaging	Het
4833439L19Rik	A	G	13: 54,700,863 (GRCm39)		probably null	Het
Abca4	T	C	3: 121,917,200 (GRCm39)		probably benign	Het
Adamts10	G	T	17: 33,762,692 (GRCm39)	G557V	probably damaging	Het
Adgrg6	T	C	10: 14,326,360 (GRCm39)	H424R	probably benign	Het
Ano4	T	C	10: 88,816,839 (GRCm39)	Q623R	probably damaging	Het
Ap1g1	T	A	8: 110,564,364 (GRCm39)		probably benign	Het
Ap3b1	T	C	13: 94,702,222 (GRCm39)	S1092P	unknown	Het
Arhgap32	A	T	9: 32,101,364 (GRCm39)		probably benign	Het
Arhgap40	A	T	2: 158,388,670 (GRCm39)	S535C	probably damaging	Het
Atp9a	T	C	2: 168,491,446 (GRCm39)		probably null	Het
Bicral	A	T	17: 47,136,327 (GRCm39)	H294Q	possibly damaging	Het
Ccdc121rt3	T	C	5: 112,502,685 (GRCm39)	K340E	probably damaging	Het
Cdhr5	T	A	7: 140,852,812 (GRCm39)	H58L	probably benign	Het
Cenpt	T	C	8: 106,576,147 (GRCm39)	E100G	possibly damaging	Het
Cep97	A	G	16: 55,750,969 (GRCm39)	S16P	probably benign	Het
Clec2i	T	A	6: 128,870,663 (GRCm39)	V67D	probably damaging	Het
Col22a1	A	G	15: 71,805,262 (GRCm39)	L146P	unknown	Het
Coq6	G	T	12: 84,414,913 (GRCm39)		probably benign	Het
Cyp1a1	A	G	9: 57,607,588 (GRCm39)	Q72R	probably benign	Het
Ep400	A	G	5: 110,887,374 (GRCm39)	S570P	probably benign	Het
Erbin	T	C	13: 103,970,535 (GRCm39)	N1027S	probably damaging	Het
Exog	T	A	9: 119,277,444 (GRCm39)		probably benign	Het
Fahd1	A	C	17: 25,068,975 (GRCm39)	V34G	probably benign	Het
Fetub	C	T	16: 22,748,045 (GRCm39)	R74W	probably benign	Het
Fhip2a	T	A	19: 57,367,174 (GRCm39)	L239Q	probably benign	Het
Frmpd1	G	A	4: 45,284,938 (GRCm39)	G1253D	unknown	Het
Galnt12	A	G	4: 47,104,255 (GRCm39)	D171G	probably damaging	Het
Gm973	G	T	1: 59,621,649 (GRCm39)		probably benign	Het
Hdlbp	C	A	1: 93,342,533 (GRCm39)		probably null	Het
Il1rl1	T	A	1: 40,490,877 (GRCm39)	I386N	possibly damaging	Het
Itgav	T	C	2: 83,623,002 (GRCm39)		probably benign	Het
Magoh	A	C	4: 107,742,195 (GRCm39)	K114Q	possibly damaging	Het
Mdfic2	T	C	6: 98,215,005 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,302,075 (GRCm39)	D986E	probably benign	Het
Muc4	G	A	16: 32,570,131 (GRCm39)	S397N	possibly damaging	Het
Nckap5	T	C	1: 125,909,121 (GRCm39)		probably null	Het
Neu1	A	G	17: 35,151,760 (GRCm39)	I185V	probably benign	Het
Nkiras1	T	A	14: 18,278,524 (GRCm38)	D79E	probably damaging	Het
Nkx3-1	A	G	14: 69,428,350 (GRCm39)	E66G	probably benign	Het
Or51a5	A	T	7: 102,771,193 (GRCm39)	I262N	possibly damaging	Het
Osbpl11	T	A	16: 33,016,465 (GRCm39)	N73K	probably benign	Het
Otulin	C	T	15: 27,608,944 (GRCm39)	V2I	possibly damaging	Het
Pdss2	CGGAG	CG	10: 43,097,927 (GRCm39)		probably benign	Het
Pld2	T	C	11: 70,443,368 (GRCm39)	M421T	probably damaging	Het
Rgs11	A	G	17: 26,426,443 (GRCm39)		probably benign	Het
Rrad	A	T	8: 105,356,500 (GRCm39)	D133E	possibly damaging	Het
Scaf11	A	G	15: 96,318,368 (GRCm39)	S399P	probably damaging	Het
Sccpdh	A	G	1: 179,508,080 (GRCm39)		probably null	Het
Scn2a	A	G	2: 65,548,186 (GRCm39)	E1126G	probably damaging	Het
Selenop	T	G	15: 3,305,202 (GRCm39)	D119E	probably benign	Het
Serpinb3c	T	A	1: 107,204,651 (GRCm39)	S32C	probably damaging	Het
Serpine1	C	A	5: 137,093,770 (GRCm39)	K315N	probably benign	Het
Slc27a1	T	C	8: 72,032,872 (GRCm39)		probably benign	Het
Slc4a8	G	A	15: 100,686,973 (GRCm39)	R259Q	probably benign	Het
Smtnl2	C	T	11: 72,293,962 (GRCm39)	R198Q	probably damaging	Het
Spta1	A	C	1: 174,052,023 (GRCm39)	Y1819S	probably damaging	Het
Stard3	T	A	11: 98,263,140 (GRCm39)	I65N	probably damaging	Het
Tfrc	T	C	16: 32,448,997 (GRCm39)	L712P	probably damaging	Het
Tmem201	G	A	4: 149,816,343 (GRCm39)	R62C	probably damaging	Het
Trim5	A	T	7: 103,914,811 (GRCm39)	F410L	probably null	Het
Urb1	C	T	16: 90,580,150 (GRCm39)		probably benign	Het
Vmn1r34	A	T	6: 66,614,392 (GRCm39)	F115L	probably benign	Het
Vnn1	T	C	10: 23,770,910 (GRCm39)	V46A	probably benign	Het
Xrn1	T	A	9: 95,933,789 (GRCm39)	S1615R	probably benign	Het
Zfand4	T	A	6: 116,262,828 (GRCm39)	C118S	probably damaging	Het
Zfp952	G	A	17: 33,221,979 (GRCm39)	E115K	possibly damaging	Het
Zfpm1	T	C	8: 123,061,872 (GRCm39)	F368L	probably damaging	Het

Other mutations in Txndc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Txndc2	APN	17	65,945,569 (GRCm39)	missense	probably benign	0.41
IGL00985:Txndc2	APN	17	65,945,544 (GRCm39)	missense	possibly damaging	0.95
IGL01304:Txndc2	APN	17	65,945,448 (GRCm39)	missense	possibly damaging	0.79
IGL01525:Txndc2	APN	17	65,945,908 (GRCm39)	missense	possibly damaging	0.84
IGL02472:Txndc2	APN	17	65,944,971 (GRCm39)	missense	possibly damaging	0.86
IGL02559:Txndc2	APN	17	65,946,585 (GRCm39)	missense	possibly damaging	0.91
IGL02802:Txndc2	UTSW	17	65,946,601 (GRCm39)	missense	possibly damaging	0.93
R0737:Txndc2	UTSW	17	65,946,548 (GRCm39)	critical splice donor site	probably null
R1525:Txndc2	UTSW	17	65,945,310 (GRCm39)	missense	probably damaging	1.00
R1569:Txndc2	UTSW	17	65,945,921 (GRCm39)	missense	probably benign	0.44
R1746:Txndc2	UTSW	17	65,945,130 (GRCm39)	missense	probably damaging	1.00
R4063:Txndc2	UTSW	17	65,945,079 (GRCm39)	missense	possibly damaging	0.86
R4971:Txndc2	UTSW	17	65,945,849 (GRCm39)	missense	probably damaging	0.96
R4983:Txndc2	UTSW	17	65,945,055 (GRCm39)	missense	probably benign	0.01
R6177:Txndc2	UTSW	17	65,945,466 (GRCm39)	missense	probably benign	0.44
R6762:Txndc2	UTSW	17	65,945,967 (GRCm39)	missense	probably damaging	0.99
R6915:Txndc2	UTSW	17	65,945,286 (GRCm39)	missense	probably benign
R7574:Txndc2	UTSW	17	65,945,620 (GRCm39)	missense	possibly damaging	0.86
R7775:Txndc2	UTSW	17	65,945,238 (GRCm39)	missense	probably benign	0.01
R9294:Txndc2	UTSW	17	65,946,019 (GRCm39)	missense	unknown
R9359:Txndc2	UTSW	17	65,944,992 (GRCm39)	missense	probably damaging	0.99
R9403:Txndc2	UTSW	17	65,944,992 (GRCm39)	missense	probably damaging	0.99
R9669:Txndc2	UTSW	17	65,945,583 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGCTGCTCACAATCCTCAGTGTCC -3'
(R):5'- AGTCCTCCCATGAATCCATCCAGTC -3'

Sequencing Primer
(F):5'- TCCTCGTGCTTCAAAGACAGG -3'
(R):5'- TCCATCCAGTCCAAGGAGG -3'

Posted On

2013-06-12