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: 0.157) question?

Stock #

R0508 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65637505-65642204 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65637953 bp (GRCm38)

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: 71,164,388 (GRCm38)	L632P	probably damaging	Het
4833439L19Rik	A	G	13: 54,553,050 (GRCm38)		probably null	Het
Abca4	T	C	3: 122,123,551 (GRCm38)		probably benign	Het
Adamts10	G	T	17: 33,543,718 (GRCm38)	G557V	probably damaging	Het
Adgrg6	T	C	10: 14,450,616 (GRCm38)	H424R	probably benign	Het
Ano4	T	C	10: 88,980,977 (GRCm38)	Q623R	probably damaging	Het
Ap1g1	T	A	8: 109,837,732 (GRCm38)		probably benign	Het
Ap3b1	T	C	13: 94,565,714 (GRCm38)	S1092P	unknown	Het
Arhgap32	A	T	9: 32,190,068 (GRCm38)		probably benign	Het
Arhgap40	A	T	2: 158,546,750 (GRCm38)	S535C	probably damaging	Het
Atp9a	T	C	2: 168,649,526 (GRCm38)		probably null	Het
Bicral	A	T	17: 46,825,401 (GRCm38)	H294Q	possibly damaging	Het
Cdhr5	T	A	7: 141,272,899 (GRCm38)	H58L	probably benign	Het
Cenpt	T	C	8: 105,849,515 (GRCm38)	E100G	possibly damaging	Het
Cep97	A	G	16: 55,930,606 (GRCm38)	S16P	probably benign	Het
Clec2i	T	A	6: 128,893,700 (GRCm38)	V67D	probably damaging	Het
Col22a1	A	G	15: 71,933,413 (GRCm38)	L146P	unknown	Het
Coq6	G	T	12: 84,368,139 (GRCm38)		probably benign	Het
Cyp1a1	A	G	9: 57,700,305 (GRCm38)	Q72R	probably benign	Het
Ep400	A	G	5: 110,739,508 (GRCm38)	S570P	probably benign	Het
Erbin	T	C	13: 103,834,027 (GRCm38)	N1027S	probably damaging	Het
Exog	T	A	9: 119,448,378 (GRCm38)		probably benign	Het
Fahd1	A	C	17: 24,850,001 (GRCm38)	V34G	probably benign	Het
Fam160b1	T	A	19: 57,378,742 (GRCm38)	L239Q	probably benign	Het
Fetub	C	T	16: 22,929,295 (GRCm38)	R74W	probably benign	Het
Frmpd1	G	A	4: 45,284,938 (GRCm38)	G1253D	unknown	Het
Galnt12	A	G	4: 47,104,255 (GRCm38)	D171G	probably damaging	Het
Gm6583	T	C	5: 112,354,819 (GRCm38)	K340E	probably damaging	Het
Gm765	T	C	6: 98,238,044 (GRCm38)		probably benign	Het
Gm973	G	T	1: 59,582,490 (GRCm38)		probably benign	Het
Hdlbp	C	A	1: 93,414,811 (GRCm38)		probably null	Het
Il1rl1	T	A	1: 40,451,717 (GRCm38)	I386N	possibly damaging	Het
Itgav	T	C	2: 83,792,658 (GRCm38)		probably benign	Het
Magoh	A	C	4: 107,884,998 (GRCm38)	K114Q	possibly damaging	Het
Mki67	A	T	7: 135,700,346 (GRCm38)	D986E	probably benign	Het
Muc4	G	A	16: 32,751,313 (GRCm38)	S397N	possibly damaging	Het
Nckap5	T	C	1: 125,981,384 (GRCm38)		probably null	Het
Neu1	A	G	17: 34,932,784 (GRCm38)	I185V	probably benign	Het
Nkiras1	T	A	14: 18,278,524 (GRCm38)	D79E	probably damaging	Het
Nkx3-1	A	G	14: 69,190,901 (GRCm38)	E66G	probably benign	Het
Olfr586	A	T	7: 103,121,986 (GRCm38)	I262N	possibly damaging	Het
Osbpl11	T	A	16: 33,196,095 (GRCm38)	N73K	probably benign	Het
Otulin	C	T	15: 27,608,858 (GRCm38)	V2I	possibly damaging	Het
Pdss2	CGGAG	CG	10: 43,221,931 (GRCm38)		probably benign	Het
Pld2	T	C	11: 70,552,542 (GRCm38)	M421T	probably damaging	Het
Rgs11	A	G	17: 26,207,469 (GRCm38)		probably benign	Het
Rrad	A	T	8: 104,629,868 (GRCm38)	D133E	possibly damaging	Het
Scaf11	A	G	15: 96,420,487 (GRCm38)	S399P	probably damaging	Het
Sccpdh	A	G	1: 179,680,515 (GRCm38)		probably null	Het
Scn2a	A	G	2: 65,717,842 (GRCm38)	E1126G	probably damaging	Het
Selenop	T	G	15: 3,275,720 (GRCm38)	D119E	probably benign	Het
Serpinb3c	T	A	1: 107,276,921 (GRCm38)	S32C	probably damaging	Het
Serpine1	C	A	5: 137,064,916 (GRCm38)	K315N	probably benign	Het
Slc27a1	T	C	8: 71,580,228 (GRCm38)		probably benign	Het
Slc4a8	G	A	15: 100,789,092 (GRCm38)	R259Q	probably benign	Het
Smtnl2	C	T	11: 72,403,136 (GRCm38)	R198Q	probably damaging	Het
Spta1	A	C	1: 174,224,457 (GRCm38)	Y1819S	probably damaging	Het
Stard3	T	A	11: 98,372,314 (GRCm38)	I65N	probably damaging	Het
Tfrc	T	C	16: 32,630,179 (GRCm38)	L712P	probably damaging	Het
Tmem201	G	A	4: 149,731,886 (GRCm38)	R62C	probably damaging	Het
Trim5	A	T	7: 104,265,604 (GRCm38)	F410L	probably null	Het
Urb1	C	T	16: 90,783,262 (GRCm38)		probably benign	Het
Vmn1r34	A	T	6: 66,637,408 (GRCm38)	F115L	probably benign	Het
Vnn1	T	C	10: 23,895,012 (GRCm38)	V46A	probably benign	Het
Xrn1	T	A	9: 96,051,736 (GRCm38)	S1615R	probably benign	Het
Zfand4	T	A	6: 116,285,867 (GRCm38)	C118S	probably damaging	Het
Zfp952	G	A	17: 33,003,005 (GRCm38)	E115K	possibly damaging	Het
Zfpm1	T	C	8: 122,335,133 (GRCm38)	F368L	probably damaging	Het

Other mutations in Txndc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Txndc2	APN	17	65,638,574 (GRCm38)	missense	probably benign	0.41
IGL00985:Txndc2	APN	17	65,638,549 (GRCm38)	missense	possibly damaging	0.95
IGL01304:Txndc2	APN	17	65,638,453 (GRCm38)	missense	possibly damaging	0.79
IGL01525:Txndc2	APN	17	65,638,913 (GRCm38)	missense	possibly damaging	0.84
IGL02472:Txndc2	APN	17	65,637,976 (GRCm38)	missense	possibly damaging	0.86
IGL02559:Txndc2	APN	17	65,639,590 (GRCm38)	missense	possibly damaging	0.91
IGL02802:Txndc2	UTSW	17	65,639,606 (GRCm38)	missense	possibly damaging	0.93
R0737:Txndc2	UTSW	17	65,639,553 (GRCm38)	critical splice donor site	probably null
R1525:Txndc2	UTSW	17	65,638,315 (GRCm38)	missense	probably damaging	1.00
R1569:Txndc2	UTSW	17	65,638,926 (GRCm38)	missense	probably benign	0.44
R1746:Txndc2	UTSW	17	65,638,135 (GRCm38)	missense	probably damaging	1.00
R4063:Txndc2	UTSW	17	65,638,084 (GRCm38)	missense	possibly damaging	0.86
R4971:Txndc2	UTSW	17	65,638,854 (GRCm38)	missense	probably damaging	0.96
R4983:Txndc2	UTSW	17	65,638,060 (GRCm38)	missense	probably benign	0.01
R6177:Txndc2	UTSW	17	65,638,471 (GRCm38)	missense	probably benign	0.44
R6762:Txndc2	UTSW	17	65,638,972 (GRCm38)	missense	probably damaging	0.99
R6915:Txndc2	UTSW	17	65,638,291 (GRCm38)	missense	probably benign
R7574:Txndc2	UTSW	17	65,638,625 (GRCm38)	missense	possibly damaging	0.86
R7775:Txndc2	UTSW	17	65,638,243 (GRCm38)	missense	probably benign	0.01
R9294:Txndc2	UTSW	17	65,639,024 (GRCm38)	missense	unknown
R9359:Txndc2	UTSW	17	65,637,997 (GRCm38)	missense	probably damaging	0.99
R9403:Txndc2	UTSW	17	65,637,997 (GRCm38)	missense	probably damaging	0.99
R9669:Txndc2	UTSW	17	65,638,588 (GRCm38)	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