Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02802:Txndc2'

392121

Institutional Source

Beutler Lab

Gene Symbol

Txndc2

Ensembl Gene

ENSMUSG00000050612

Gene Name

thioredoxin domain containing 2 (spermatozoa)

Synonyms

Sptrx-1

Accession Numbers

Essential gene?

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

Stock #

IGL02802 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65637505-65642204 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65639606 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 34 (S34P)

Ref Sequence

ENSEMBL: ENSMUSP00000054909 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050236
AA Change: S34P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000054909
Gene: ENSMUSG00000050612
AA Change: S34P

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

0.1795

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	C	1: 130,743,393 (GRCm38)	T451P	probably benign	Het
Actbl2	A	G	13: 111,255,776 (GRCm38)	E215G	probably damaging	Het
Adh6b	A	G	3: 138,352,784 (GRCm38)	T198A	possibly damaging	Het
Bicd2	A	G	13: 49,378,328 (GRCm38)	K349E	probably damaging	Het
Bsnd	T	A	4: 106,492,034 (GRCm38)	D3V	probably damaging	Het
Cd83	T	A	13: 43,799,671 (GRCm38)	L142Q	probably null	Het
Cdh7	A	G	1: 110,137,925 (GRCm38)	E643G	probably damaging	Het
Ces1b	T	G	8: 93,056,966 (GRCm38)	E542A	possibly damaging	Het
Cfhr2	A	G	1: 139,811,024 (GRCm38)		probably benign	Het
Clip1	T	C	5: 123,631,123 (GRCm38)	D471G	probably damaging	Het
Cntn5	C	A	9: 10,048,678 (GRCm38)		probably null	Het
Cntnap2	A	T	6: 46,170,245 (GRCm38)	D475V	probably damaging	Het
Cntnap5c	T	C	17: 58,305,684 (GRCm38)	F906S	probably benign	Het
Cobll1	A	T	2: 65,098,319 (GRCm38)	S888T	probably damaging	Het
Csf2rb	G	A	15: 78,338,903 (GRCm38)	R105Q	probably benign	Het
Ctnnd1	C	A	2: 84,624,462 (GRCm38)	M1I	probably null	Het
Cxxc1	C	T	18: 74,219,410 (GRCm38)	Q354*	probably null	Het
Dnhd1	A	G	7: 105,655,723 (GRCm38)	D324G	possibly damaging	Het
Donson	T	C	16: 91,681,308 (GRCm38)	D435G	possibly damaging	Het
Ephb1	T	C	9: 102,010,019 (GRCm38)	K474E	possibly damaging	Het
Erbin	A	G	13: 103,868,130 (GRCm38)	L130P	probably damaging	Het
Fam221a	C	T	6: 49,378,477 (GRCm38)	T171I	probably damaging	Het
Farp2	A	G	1: 93,528,610 (GRCm38)	E5G	probably damaging	Het
Fblim1	A	G	4: 141,590,120 (GRCm38)	S85P	possibly damaging	Het
Fhl2	A	T	1: 43,123,601 (GRCm38)	C251*	probably null	Het
Glis2	T	C	16: 4,611,871 (GRCm38)		probably null	Het
Gm10715	A	C	9: 3,038,062 (GRCm38)		probably benign	Het
Gm10717	C	T	9: 3,031,999 (GRCm38)	P127S	probably benign	Het
Heatr6	T	C	11: 83,760,936 (GRCm38)	L246P	probably damaging	Het
Igkv5-39	G	A	6: 69,900,473 (GRCm38)	P100S	probably benign	Het
Jup	T	C	11: 100,378,378 (GRCm38)	D403G	probably benign	Het
Kank1	T	C	19: 25,411,599 (GRCm38)	Y879H	probably damaging	Het
Kcna3	G	A	3: 107,037,053 (GRCm38)	E211K	probably damaging	Het
Klc3	A	T	7: 19,395,124 (GRCm38)	I440N	possibly damaging	Het
Mmp1b	T	C	9: 7,384,709 (GRCm38)	T280A	probably benign	Het
Nat3	A	T	8: 67,547,508 (GRCm38)	Q13L	probably benign	Het
Nckap1l	A	G	15: 103,464,536 (GRCm38)	N272S	probably benign	Het
Nrn1	C	A	13: 36,730,106 (GRCm38)		probably null	Het
Nsd3	T	C	8: 25,640,906 (GRCm38)	S96P	probably damaging	Het
Nudt16l1	C	T	16: 4,939,267 (GRCm38)	R43C	probably damaging	Het
Obscn	T	A	11: 59,000,484 (GRCm38)	Q7074L	unknown	Het
Olfr1024	A	G	2: 85,904,389 (GRCm38)	S222P	probably damaging	Het
Olfr1076	T	A	2: 86,508,946 (GRCm38)	N162K	probably benign	Het
Olfr1181	A	G	2: 88,423,488 (GRCm38)	V179A	probably benign	Het
Olfr506	A	T	7: 108,612,462 (GRCm38)	I52F	probably damaging	Het
Olfr776	T	A	10: 129,261,267 (GRCm38)		probably null	Het
Olfr884	T	G	9: 38,048,049 (GRCm38)	Y276D	probably damaging	Het
P4htm	C	T	9: 108,582,856 (GRCm38)	D240N	probably benign	Het
Papd4	A	T	13: 93,148,941 (GRCm38)	N436K	probably damaging	Het
Plekhm2	A	T	4: 141,642,524 (GRCm38)		probably benign	Het
Plppr5	T	C	3: 117,662,579 (GRCm38)	S250P	probably damaging	Het
Pmis2	T	C	7: 30,671,494 (GRCm38)	K12E	probably benign	Het
Ppox	A	T	1: 171,277,493 (GRCm38)	L374*	probably null	Het
Rcc1	C	T	4: 132,337,756 (GRCm38)	R139H	probably benign	Het
Speer4c	A	C	5: 15,714,216 (GRCm38)		probably benign	Het
Tdo2	A	G	3: 81,975,697 (GRCm38)		probably benign	Het
Thbs2	A	G	17: 14,684,127 (GRCm38)	I326T	probably benign	Het
Thrap3	T	C	4: 126,165,364 (GRCm38)		probably benign	Het
Ttc6	A	T	12: 57,575,868 (GRCm38)	M18L	probably benign	Het
Ttn	C	T	2: 76,774,580 (GRCm38)	V18337I	probably damaging	Het
Vps72	T	A	3: 95,119,234 (GRCm38)	C163*	probably null	Het
Wdyhv1	A	G	15: 58,148,437 (GRCm38)	S65G	probably benign	Het
Zfp831	T	A	2: 174,645,152 (GRCm38)	I540N	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
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
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'- ATGTCACTCATCAGACAGCC -3'
(R):5'- TGCCTCAAAGCTCTCAAAGTCC -3'

Sequencing Primer
(F):5'- GCATCAGCAATGACATATGTCTTTC -3'
(R):5'- AAGCTCTCAAAGTCCACTGTTGG -3'

Posted On

2016-06-09