Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02472:Txndc2'

294771

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02472

Quality Score

Status

Chromosome

Chromosomal Location

65637505-65642204 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65637976 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 402 (I402T)

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: I402T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054909
Gene: ENSMUSG00000050612
AA Change: I402T

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

Coding Region Coverage

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	A	G	15: 76,950,378 (GRCm38)	N158S	probably damaging	Het
Ankrd17	A	C	5: 90,264,151 (GRCm38)	L1285V	probably damaging	Het
Atp8b2	G	A	3: 89,954,239 (GRCm38)	T267I	probably damaging	Het
Becn1	C	T	11: 101,291,398 (GRCm38)	G115D	probably benign	Het
Cd3eap	T	C	7: 19,359,105 (GRCm38)	D50G	probably damaging	Het
Cdc45	C	T	16: 18,798,729 (GRCm38)	M200I	probably benign	Het
Chd6	A	C	2: 160,984,452 (GRCm38)		probably benign	Het
Col22a1	A	G	15: 71,827,753 (GRCm38)		probably benign	Het
Csgalnact1	C	A	8: 68,401,492 (GRCm38)	G219V	probably damaging	Het
Dnm2	A	G	9: 21,485,708 (GRCm38)	I494V	possibly damaging	Het
Dock2	T	A	11: 34,249,801 (GRCm38)	E1416D	probably benign	Het
Eif2ak1	A	G	5: 143,884,883 (GRCm38)	H339R	probably benign	Het
Espnl	C	T	1: 91,340,534 (GRCm38)	P294L	probably benign	Het
Ftmt	T	A	18: 52,331,840 (GRCm38)	I76N	possibly damaging	Het
Gorasp2	T	G	2: 70,676,459 (GRCm38)		probably benign	Het
Hadhb	T	A	5: 30,184,063 (GRCm38)	M468K	possibly damaging	Het
Hfm1	A	G	5: 106,873,928 (GRCm38)		probably benign	Het
Inpp5j	T	C	11: 3,495,338 (GRCm38)		probably benign	Het
Ipo7	T	A	7: 110,040,853 (GRCm38)	F288I	probably damaging	Het
Kcnv1	T	A	15: 45,109,123 (GRCm38)	K455*	probably null	Het
Kdm5a	A	G	6: 120,406,730 (GRCm38)		probably benign	Het
Kmt2d	G	A	15: 98,850,077 (GRCm38)	S3122F	probably benign	Het
Kndc1	A	G	7: 139,910,901 (GRCm38)	I440V	probably benign	Het
Mib2	T	A	4: 155,656,746 (GRCm38)	I545F	probably damaging	Het
Nav2	C	T	7: 49,546,041 (GRCm38)	P1055L	probably damaging	Het
Olfr111	C	A	17: 37,530,749 (GRCm38)	F257L	probably damaging	Het
Olfr1257	T	A	2: 89,881,411 (GRCm38)	I195N	probably benign	Het
Plch1	A	T	3: 63,701,849 (GRCm38)	L65Q	probably damaging	Het
Ppp3ca	A	G	3: 136,921,862 (GRCm38)	I396V	possibly damaging	Het
Ryr1	A	T	7: 29,040,844 (GRCm38)	N3917K	probably damaging	Het
Scn7a	T	C	2: 66,752,314 (GRCm38)	T80A	probably damaging	Het
Sema3f	C	T	9: 107,687,736 (GRCm38)	E307K	probably damaging	Het
Serpinb9b	A	T	13: 33,039,970 (GRCm38)		probably benign	Het
Siglec15	T	A	18: 78,043,617 (GRCm38)	K342N	possibly damaging	Het
Slc2a12	T	C	10: 22,665,155 (GRCm38)	F303S	probably damaging	Het
Slc9c1	T	C	16: 45,580,142 (GRCm38)	V705A	probably benign	Het
Tenm4	T	C	7: 96,774,176 (GRCm38)		probably benign	Het
Tm6sf1	A	T	7: 81,875,824 (GRCm38)		probably benign	Het
Tmem245	T	C	4: 56,899,119 (GRCm38)	Y269C	probably damaging	Het
Ube4b	A	G	4: 149,387,079 (GRCm38)		probably null	Het
Usp28	T	A	9: 49,037,769 (GRCm38)	Y863N	possibly damaging	Het
Vmn2r69	T	C	7: 85,409,752 (GRCm38)	I534V	probably benign	Het
Wdr89	A	T	12: 75,632,969 (GRCm38)	D170E	probably damaging	Het
Zfp280d	C	A	9: 72,301,711 (GRCm38)	N74K	probably damaging	Het
Zfp518a	G	A	19: 40,914,617 (GRCm38)	G997R	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
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
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

Posted On

2015-04-16