Mutagenetix > Incidental Mutation

Incidental Mutation 'R1569:Txndc2'

177151

Institutional Source

Beutler Lab

Gene Symbol

Txndc2

Ensembl Gene

ENSMUSG00000050612

Gene Name

thioredoxin domain containing 2 (spermatozoa)

Synonyms

Sptrx-1

MMRRC Submission

039608-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R1569 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65637505-65642204 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65638926 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 85 (N85K)

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: N85K

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000054909
Gene: ENSMUSG00000050612
AA Change: N85K

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

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.3%

Validation Efficiency

96% (72/75)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,293,797 (GRCm38)	K166*	probably null	Het
Abca2	T	A	2: 25,439,185 (GRCm38)	N1012K	probably benign	Het
Ahnak	T	C	19: 9,004,094 (GRCm38)	V914A	possibly damaging	Het
Akap1	T	A	11: 88,833,180 (GRCm38)	M833L	probably benign	Het
Atp2b1	T	A	10: 98,987,326 (GRCm38)	H249Q	probably benign	Het
Atp6v0a4	A	G	6: 38,050,625 (GRCm38)	V750A	probably damaging	Het
Car6	T	C	4: 150,201,042 (GRCm38)	Y23C	probably damaging	Het
Celsr3	A	G	9: 108,829,068 (GRCm38)	T917A	probably damaging	Het
Clmn	C	A	12: 104,781,081 (GRCm38)	D736Y	probably damaging	Het
Dclk2	C	T	3: 86,805,639 (GRCm38)	R503Q	possibly damaging	Het
Dennd4c	G	A	4: 86,786,094 (GRCm38)	R282H	possibly damaging	Het
Dsg1b	T	A	18: 20,396,480 (GRCm38)	N327K	probably damaging	Het
Eftud2	A	T	11: 102,854,771 (GRCm38)		probably benign	Het
Esyt1	G	T	10: 128,518,994 (GRCm38)	S512R	possibly damaging	Het
Fam124b	T	C	1: 80,213,135 (GRCm38)	Y177C	possibly damaging	Het
Fbxl5	A	T	5: 43,765,461 (GRCm38)	I205K	probably damaging	Het
Fcrl1	A	G	3: 87,384,705 (GRCm38)	Y57C	probably damaging	Het
Gabpb1	A	T	2: 126,652,251 (GRCm38)	D151E	probably benign	Het
Gcc2	C	T	10: 58,270,171 (GRCm38)	L310F	probably benign	Het
Hsd11b1	C	G	1: 193,240,327 (GRCm38)	E141Q	probably damaging	Het
Htr1b	A	G	9: 81,632,287 (GRCm38)	V89A	probably benign	Het
Ibsp	A	T	5: 104,310,151 (GRCm38)	T185S	probably damaging	Het
Igfn1	T	C	1: 135,969,033 (GRCm38)	D1265G	probably benign	Het
Ints9	T	C	14: 64,980,122 (GRCm38)	Y33H	possibly damaging	Het
Kif1a	A	T	1: 93,058,810 (GRCm38)		probably benign	Het
Lama1	A	T	17: 67,780,618 (GRCm38)		probably null	Het
Lbp	A	T	2: 158,319,687 (GRCm38)	D223V	probably damaging	Het
Lck	C	A	4: 129,555,656 (GRCm38)	D283Y	probably damaging	Het
Lcmt2	A	G	2: 121,139,828 (GRCm38)	F258S	probably damaging	Het
Lsg1	G	T	16: 30,581,005 (GRCm38)		probably null	Het
Maip1	T	C	1: 57,413,395 (GRCm38)		probably benign	Het
Mark3	T	G	12: 111,633,746 (GRCm38)	I465S	probably benign	Het
Marveld2	C	T	13: 100,600,998 (GRCm38)	V128I	probably benign	Het
Mcm3ap	A	G	10: 76,483,188 (GRCm38)	H750R	possibly damaging	Het
Mdn1	A	T	4: 32,723,501 (GRCm38)	Q2479L	probably null	Het
Met	A	T	6: 17,531,504 (GRCm38)	K594*	probably null	Het
Pak2	G	T	16: 32,037,295 (GRCm38)	S241R	probably damaging	Het
Plxna4	T	C	6: 32,185,475 (GRCm38)	I1368V	possibly damaging	Het
Pparg	T	C	6: 115,439,999 (GRCm38)	I51T	probably benign	Het
Ppp1r18	A	G	17: 35,868,703 (GRCm38)	E62G	probably damaging	Het
Prkag2	T	C	5: 24,947,477 (GRCm38)	S86G	possibly damaging	Het
Rabgap1l	A	T	1: 160,702,390 (GRCm38)	I347K	probably benign	Het
Rdh1	A	T	10: 127,763,072 (GRCm38)	M141L	probably benign	Het
Rfx2	A	T	17: 56,804,326 (GRCm38)	I82N	possibly damaging	Het
Sh2b2	G	A	5: 136,231,735 (GRCm38)	A209V	possibly damaging	Het
Sh3d19	G	A	3: 86,126,644 (GRCm38)	R768H	possibly damaging	Het
Sh3rf1	C	T	8: 61,384,862 (GRCm38)	P814S	probably damaging	Het
Shbg	T	A	11: 69,617,589 (GRCm38)		probably benign	Het
Slc15a2	T	C	16: 36,756,383 (GRCm38)	T430A	probably benign	Het
Slc17a3	A	T	13: 23,855,608 (GRCm38)	I250F	probably benign	Het
Snrnp40	C	G	4: 130,378,043 (GRCm38)		probably null	Het
Spg11	A	G	2: 122,101,706 (GRCm38)	S552P	probably damaging	Het
Srpk2	A	G	5: 23,514,026 (GRCm38)	I597T	probably damaging	Het
St6galnac1	T	G	11: 116,769,271 (GRCm38)	N72T	possibly damaging	Het
Tecpr2	T	A	12: 110,944,887 (GRCm38)		probably null	Het
Tmem208	T	A	8: 105,334,830 (GRCm38)	C163S	possibly damaging	Het
Tpte	T	C	8: 22,345,031 (GRCm38)	V401A	probably damaging	Het
Trhde	A	G	10: 114,446,188 (GRCm38)	W795R	possibly damaging	Het
Trpm3	G	A	19: 22,889,445 (GRCm38)		probably null	Het
Ttn	T	A	2: 76,795,719 (GRCm38)	T14999S	possibly damaging	Het
Yes1	A	G	5: 32,653,163 (GRCm38)	Y192C	probably damaging	Het
Zan	A	G	5: 137,429,130 (GRCm38)	V2415A	unknown	Het
Zfp410	T	A	12: 84,332,952 (GRCm38)	C311S	probably damaging	Het
Zfp51	A	T	17: 21,456,380 (GRCm38)	M38L	probably benign	Het
Zfp560	A	T	9: 20,348,715 (GRCm38)	C284S	possibly damaging	Het
Zfp808	C	T	13: 62,172,900 (GRCm38)	R648*	probably null	Het
Zfp976	G	T	7: 42,613,382 (GRCm38)	H344N	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
R0508:Txndc2	UTSW	17	65,637,953 (GRCm38)	missense	probably benign	0.01
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
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'- TGCTTGGAGTAGCCCGAGGATTTAG -3'
(R):5'- ACCATTCATCAGATGCCTTCATGGTC -3'

Sequencing Primer
(F):5'- TGAAAACATGGGGGTGCTAC -3'
(R):5'- tttcacacacacacacacac -3'

Posted On

2014-04-24