Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01304:Txndc2'

73372

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 #

IGL01304

Quality Score

Status

Chromosome

Chromosomal Location

65637505-65642204 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65638453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 243 (E243G)

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: E243G

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054909
Gene: ENSMUSG00000050612
AA Change: E243G

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,215,721 (GRCm38)	D79E	probably benign	Het
Aplf	A	C	6: 87,641,900 (GRCm38)	S421A	possibly damaging	Het
Arnt	T	G	3: 95,448,385 (GRCm38)	D13E	probably damaging	Het
Asap1	T	C	15: 64,312,449 (GRCm38)	E45G	probably damaging	Het
C2cd2l	T	C	9: 44,319,587 (GRCm38)	N101S	probably damaging	Het
Cby2	T	A	14: 75,592,645 (GRCm38)	D36V	possibly damaging	Het
Chmp7	G	A	14: 69,718,613 (GRCm38)	P402L	probably benign	Het
Cir1	A	T	2: 73,287,724 (GRCm38)		probably null	Het
Clock	A	G	5: 76,266,355 (GRCm38)		probably null	Het
Col18a1	T	G	10: 77,076,141 (GRCm38)		probably benign	Het
Csf2ra	G	A	19: 61,226,833 (GRCm38)	H115Y	possibly damaging	Het
Cspg5	T	A	9: 110,256,168 (GRCm38)	L469H	probably damaging	Het
Dapk2	T	C	9: 66,231,857 (GRCm38)		probably benign	Het
F13a1	T	C	13: 36,988,878 (GRCm38)	D176G	probably benign	Het
Fbn2	T	C	18: 58,061,745 (GRCm38)	E1448G	probably damaging	Het
Gtf2b	C	T	3: 142,781,598 (GRCm38)	S265L	probably benign	Het
Hmcn1	C	T	1: 150,622,924 (GRCm38)	G4068D	probably damaging	Het
Krt81	G	A	15: 101,463,388 (GRCm38)	H104Y	probably benign	Het
Ksr1	T	C	11: 79,027,642 (GRCm38)	Q562R	probably damaging	Het
Lrif1	C	T	3: 106,731,733 (GRCm38)	P20S	probably damaging	Het
Mamdc4	T	C	2: 25,563,576 (GRCm38)	T1194A	possibly damaging	Het
Med18	C	A	4: 132,459,619 (GRCm38)	A190S	probably damaging	Het
Mia2	G	A	12: 59,104,538 (GRCm38)	E105K	probably damaging	Het
Mnt	T	A	11: 74,842,185 (GRCm38)	Y48N	probably damaging	Het
Mpp4	A	C	1: 59,149,519 (GRCm38)		probably null	Het
Or4b1b	G	A	2: 90,282,081 (GRCm38)	P165S	possibly damaging	Het
Popdc3	T	G	10: 45,317,909 (GRCm38)	S269A	probably benign	Het
Ppp6r3	A	T	19: 3,467,261 (GRCm38)	M662K	probably damaging	Het
Qser1	C	A	2: 104,787,631 (GRCm38)	Q945H	probably damaging	Het
Rad52	A	G	6: 119,918,633 (GRCm38)	E198G	probably damaging	Het
Ranbp17	A	G	11: 33,266,147 (GRCm38)	V867A	possibly damaging	Het
Rdh16	G	T	10: 127,813,496 (GRCm38)	A274S	probably benign	Het
Slco1a5	G	T	6: 142,242,150 (GRCm38)	Q488K	probably benign	Het
Snai2	T	C	16: 14,706,771 (GRCm38)	I47T	probably benign	Het
Snw1	T	C	12: 87,453,915 (GRCm38)	D358G	possibly damaging	Het
Speg	T	C	1: 75,428,197 (GRCm38)	F2878L	probably benign	Het
Spg11	T	C	2: 122,072,290 (GRCm38)	Y1386C	probably damaging	Het
Tgfb2	A	C	1: 186,625,473 (GRCm38)	I435S	probably damaging	Het
Ttc9b	G	A	7: 27,655,985 (GRCm38)	D227N	probably benign	Het
Usp28	A	G	9: 49,026,819 (GRCm38)	D563G	probably damaging	Het
Vmn1r77	T	C	7: 12,042,035 (GRCm38)	V178A	probably damaging	Het
Zfp316	A	G	5: 143,254,426 (GRCm38)	F613L	probably benign	Het
Zfp870	A	T	17: 32,883,006 (GRCm38)	C450S	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
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
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

2013-10-07