Mutagenetix > Incidental Mutation

Incidental Mutation 'R4983:Txndc2'

385767

Institutional Source

Beutler Lab

Gene Symbol

Txndc2

Ensembl Gene

ENSMUSG00000050612

Gene Name

thioredoxin domain containing 2 (spermatozoa)

Synonyms

Sptrx-1

MMRRC Submission

042577-MU

Accession Numbers

Essential gene?

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

Stock #

R4983 (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 65638060 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 374 (H374L)

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: H374L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000054909
Gene: ENSMUSG00000050612
AA Change: H374L

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (103/106)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	T	G	19: 42,053,076 (GRCm38)	S215R	possibly damaging	Het
9130011E15Rik	T	C	19: 45,950,707 (GRCm38)	T335A	probably benign	Het
Abcc9	T	C	6: 142,682,141 (GRCm38)	M388V	probably benign	Het
Acbd6	A	C	1: 155,601,529 (GRCm38)	T154P	probably benign	Het
Ago1	T	C	4: 126,453,654 (GRCm38)	D434G	probably damaging	Het
Ankib1	A	T	5: 3,769,652 (GRCm38)	M89K	probably benign	Het
Arap2	A	T	5: 62,676,525 (GRCm38)	H866Q	probably damaging	Het
BC017158	C	T	7: 128,276,473 (GRCm38)		probably benign	Het
Capn12	A	T	7: 28,890,370 (GRCm38)	H622L	probably benign	Het
Capns2	T	G	8: 92,901,902 (GRCm38)	F140V	probably damaging	Het
Catsper1	T	G	19: 5,335,963 (GRCm38)	F75V	probably benign	Het
Ccdc24	T	C	4: 117,872,100 (GRCm38)	N16S	probably benign	Het
Cdkn2aip	A	T	8: 47,712,929 (GRCm38)	L114Q	probably damaging	Het
Cenpe	T	A	3: 135,234,928 (GRCm38)	S649R	probably damaging	Het
Chgb	A	T	2: 132,793,682 (GRCm38)	R515W	probably damaging	Het
Chrnb1	A	G	11: 69,793,978 (GRCm38)	F123S	probably damaging	Het
Copz2	A	T	11: 96,857,551 (GRCm38)		probably null	Het
Cspp1	T	A	1: 10,126,463 (GRCm38)	N900K	probably damaging	Het
Daw1	C	A	1: 83,187,998 (GRCm38)	A178E	probably benign	Het
Dnase1l1	C	T	X: 74,277,038 (GRCm38)		probably null	Homo
Epb41l5	T	C	1: 119,555,071 (GRCm38)	D629G	probably benign	Het
Erap1	A	G	13: 74,690,710 (GRCm38)	E925G	probably benign	Het
Exoc7	A	C	11: 116,289,269 (GRCm38)	F657V	probably damaging	Het
Fam210b	G	C	2: 172,345,665 (GRCm38)	A2P	probably damaging	Homo
Fry	A	G	5: 150,398,254 (GRCm38)	E1018G	probably damaging	Het
Galc	A	T	12: 98,242,768 (GRCm38)	L15*	probably null	Het
Gm11232	T	A	4: 71,756,901 (GRCm38)	K121N	possibly damaging	Het
Gm17677	T	G	9: 35,742,169 (GRCm38)	F90V	probably benign	Het
Hectd1	A	T	12: 51,784,262 (GRCm38)	D931E	probably benign	Het
Hecw2	T	C	1: 53,832,671 (GRCm38)	H1372R	probably benign	Het
Ighv3-2	T	A	12: 114,033,986 (GRCm38)		noncoding transcript	Het
Kcns2	T	G	15: 34,839,605 (GRCm38)	S371R	probably damaging	Het
Kif23	T	C	9: 61,936,703 (GRCm38)	K175E	probably benign	Het
Kmt2c	G	A	5: 25,295,511 (GRCm38)	R436W	possibly damaging	Het
Lama5	A	G	2: 180,193,449 (GRCm38)	S1317P	probably benign	Het
Lce1e	T	C	3: 92,707,828 (GRCm38)	S71G	unknown	Het
Lrrc37a	T	A	11: 103,497,618 (GRCm38)	E2327V	unknown	Het
Map3k20	A	G	2: 72,402,067 (GRCm38)	M356V	probably benign	Het
Med12l	C	T	3: 59,261,929 (GRCm38)	A1580V	probably damaging	Het
Metap2	G	T	10: 93,889,600 (GRCm38)	T30K	possibly damaging	Het
Mysm1	T	A	4: 94,972,970 (GRCm38)	T53S	probably benign	Het
Nasp	A	T	4: 116,602,185 (GRCm38)	D717E	probably damaging	Het
Ndnf	G	A	6: 65,703,571 (GRCm38)	R278H	possibly damaging	Het
Neb	A	T	2: 52,216,261 (GRCm38)	N4205K	probably damaging	Het
Nebl	A	T	2: 17,375,271 (GRCm38)	I764N	possibly damaging	Het
Nucb1	A	G	7: 45,498,889 (GRCm38)	Y131H	probably damaging	Het
Olfr1157	G	T	2: 87,962,698 (GRCm38)	H65N	probably benign	Het
Olfr292	A	C	7: 86,694,479 (GRCm38)	T8P	probably benign	Het
Olfr381	A	G	11: 73,486,797 (GRCm38)	I9T	probably benign	Het
Oscp1	T	A	4: 126,076,762 (GRCm38)	C115S	probably benign	Het
Paip2	C	T	18: 35,613,359 (GRCm38)	R59C	possibly damaging	Het
Pcdhga4	G	A	18: 37,686,519 (GRCm38)	D374N	probably damaging	Het
Pcolce	G	T	5: 137,605,674 (GRCm38)		probably benign	Het
Pcyox1l	T	C	18: 61,699,397 (GRCm38)	E193G	probably damaging	Het
Pde6b	A	T	5: 108,425,330 (GRCm38)	Q522L	probably benign	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm38)		probably benign	Het
Phf11a	A	G	14: 59,284,438 (GRCm38)	F95L	probably benign	Het
Pja2	A	C	17: 64,309,058 (GRCm38)	S281A	probably benign	Het
Plekhm2	A	G	4: 141,634,376 (GRCm38)	F272S	probably damaging	Het
Pom121l2	T	C	13: 21,983,814 (GRCm38)	S752P	probably benign	Het
Ppl	T	C	16: 5,088,718 (GRCm38)	T1238A	possibly damaging	Het
Prmt7	A	G	8: 106,250,363 (GRCm38)	Y569C	probably damaging	Het
Prss37	G	A	6: 40,516,136 (GRCm38)	T132I	probably benign	Het
Psmf1	A	T	2: 151,729,457 (GRCm38)		probably benign	Het
Ptprj	A	C	2: 90,460,532 (GRCm38)	I528S	probably damaging	Het
Reg1	A	G	6: 78,428,213 (GRCm38)	T140A	possibly damaging	Het
Rtn4	A	G	11: 29,707,217 (GRCm38)	N457S	probably benign	Het
Scn9a	T	C	2: 66,566,270 (GRCm38)	K93R	probably benign	Het
Sec16a	A	G	2: 26,439,519 (GRCm38)	V828A	probably benign	Het
Sec23b	T	A	2: 144,581,953 (GRCm38)	D507E	probably benign	Het
Sirt4	A	T	5: 115,482,791 (GRCm38)	F107L	probably benign	Het
Slc14a2	A	T	18: 78,150,401 (GRCm38)	L862Q	probably damaging	Het
Slc16a4	T	C	3: 107,300,860 (GRCm38)	S229P	probably benign	Het
Slc37a3	A	T	6: 39,352,717 (GRCm38)	C185*	probably null	Het
Slc5a2	A	T	7: 128,271,810 (GRCm38)	*154C	probably null	Het
Snx17	A	G	5: 31,195,794 (GRCm38)	S42G	possibly damaging	Het
Tgm6	T	C	2: 130,141,193 (GRCm38)	V234A	probably damaging	Het
Thbs4	A	G	13: 92,790,699 (GRCm38)	M94T	probably benign	Het
Thtpa	A	G	14: 55,072,148 (GRCm38)		probably benign	Het
Tie1	T	C	4: 118,483,755 (GRCm38)	E343G	probably damaging	Het
Tmem145	A	G	7: 25,308,602 (GRCm38)	I238V	probably benign	Het
Tmprss11f	T	C	5: 86,537,999 (GRCm38)	S170G	probably benign	Het
Tnk2	T	A	16: 32,680,465 (GRCm38)	D865E	probably damaging	Het
Ttll8	T	C	15: 88,925,582 (GRCm38)	E337G	probably benign	Het
Ttn	G	A	2: 76,867,446 (GRCm38)		probably benign	Het
Tubgcp6	T	C	15: 89,106,291 (GRCm38)	E710G	probably damaging	Het
Unc80	G	T	1: 66,674,732 (GRCm38)		probably null	Het
Vmn2r23	G	A	6: 123,733,349 (GRCm38)	C537Y	probably damaging	Het
Vmn2r45	A	G	7: 8,483,117 (GRCm38)	F391L	probably damaging	Het
Vstm4	A	T	14: 32,919,245 (GRCm38)	T262S	probably benign	Het
Zfp180	C	T	7: 24,106,078 (GRCm38)	R641C	probably damaging	Het
Zfp979	A	T	4: 147,613,914 (GRCm38)	S113T	possibly damaging	Het
Zswim4	C	T	8: 84,226,667 (GRCm38)		probably null	Het
Zswim5	T	A	4: 116,985,686 (GRCm38)	M876K	possibly 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
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
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'- TGCTCCAAGGCCTAAGAGTTTG -3'
(R):5'- CAGCGTCCAATCCAAGGAAG -3'

Sequencing Primer
(F):5'- GTGATTTCTTCCTGGGAC -3'
(R):5'- TCCAATCCAAGGAAGGTGAAGTCC -3'

Posted On

2016-05-10