Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02559:Txndc2'

298596

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 #

IGL02559

Quality Score

Status

Chromosome

Chromosomal Location

65637505-65642204 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65639590 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 39 (N39S)

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: N39S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000054909
Gene: ENSMUSG00000050612
AA Change: N39S

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,687,070 (GRCm38)	Q1004*	probably null	Het
Bahcc1	A	G	11: 120,285,172 (GRCm38)	D1914G	probably damaging	Het
Bcl11b	A	T	12: 107,915,394 (GRCm38)		probably benign	Het
Cdc45	C	T	16: 18,798,729 (GRCm38)	M200I	probably benign	Het
Col24a1	A	T	3: 145,314,173 (GRCm38)	I102F	probably benign	Het
Col7a1	C	T	9: 108,973,216 (GRCm38)	R2063C	unknown	Het
Ddo	T	A	10: 40,647,521 (GRCm38)	L169Q	probably damaging	Het
Defb4	G	T	8: 19,201,297 (GRCm38)	C60F	probably damaging	Het
Dock9	A	T	14: 121,625,147 (GRCm38)		probably benign	Het
Dysf	A	T	6: 84,067,446 (GRCm38)		probably benign	Het
Fasn	G	A	11: 120,809,066 (GRCm38)	A2253V	possibly damaging	Het
Fbxw26	T	C	9: 109,722,164 (GRCm38)	D355G	probably benign	Het
Gak	C	T	5: 108,584,232 (GRCm38)	E797K	probably null	Het
Gm10654	T	C	8: 70,932,130 (GRCm38)		noncoding transcript	Het
Gnas	T	C	2: 174,341,936 (GRCm38)		probably benign	Het
Hdac3	A	G	18: 37,954,891 (GRCm38)	F8S	probably damaging	Het
Hist1h2bj	T	A	13: 22,043,363 (GRCm38)	V45E	possibly damaging	Het
Hrh4	T	C	18: 13,007,244 (GRCm38)		probably null	Het
Klhl1	A	G	14: 96,151,960 (GRCm38)	V586A	possibly damaging	Het
Lct	T	C	1: 128,294,266 (GRCm38)	N1512S	probably damaging	Het
Mmp28	G	T	11: 83,447,740 (GRCm38)	N128K	probably benign	Het
Mndal	T	C	1: 173,872,920 (GRCm38)	T162A	probably benign	Het
Myh3	A	G	11: 67,101,095 (GRCm38)	E1822G	possibly damaging	Het
Mylpf	A	G	7: 127,214,143 (GRCm38)	Y133C	probably damaging	Het
Nup210l	G	A	3: 90,159,953 (GRCm38)	A767T	probably benign	Het
Olfr1404	T	C	1: 173,216,521 (GRCm38)	V290A	probably damaging	Het
Olfr221	A	G	14: 52,036,007 (GRCm38)	Y35H	probably damaging	Het
Olfr666	T	A	7: 104,892,954 (GRCm38)	R225W	probably benign	Het
Paics	A	G	5: 76,964,604 (GRCm38)	I312V	possibly damaging	Het
Pkdrej	G	T	15: 85,817,848 (GRCm38)	Q1296K	probably benign	Het
Ppil2	T	C	16: 17,109,651 (GRCm38)	K26E	possibly damaging	Het
Rufy1	A	G	11: 50,420,483 (GRCm38)	F170L	probably damaging	Het
Shcbp1	T	A	8: 4,749,305 (GRCm38)	E93V	probably damaging	Het
Slamf1	T	A	1: 171,767,258 (GRCm38)	I11K	possibly damaging	Het
Slc5a5	C	T	8: 70,890,271 (GRCm38)	G215D	probably damaging	Het
Slco1a1	A	T	6: 141,921,788 (GRCm38)	V473D	probably benign	Het
Slit1	A	G	19: 41,721,085 (GRCm38)	V123A	probably benign	Het
Srgap2	A	C	1: 131,524,936 (GRCm38)		probably null	Het
Stk32c	T	C	7: 139,120,690 (GRCm38)	M208V	probably benign	Het
Syt15	T	C	14: 34,221,803 (GRCm38)	V103A	probably benign	Het
Tacc2	T	A	7: 130,759,267 (GRCm38)	L456Q	probably damaging	Het
Tanc1	A	G	2: 59,724,654 (GRCm38)		probably benign	Het
Tepsin	G	T	11: 120,096,905 (GRCm38)	D62E	probably benign	Het
Thap3	T	C	4: 151,983,687 (GRCm38)	D106G	probably benign	Het
Ttn	T	C	2: 76,786,217 (GRCm38)	D14818G	probably damaging	Het
Ubxn11	A	G	4: 134,124,943 (GRCm38)	E200G	probably damaging	Het
Vmn2r11	T	G	5: 109,052,180 (GRCm38)	Q469P	probably damaging	Het
Yipf2	T	C	9: 21,592,186 (GRCm38)	T22A	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
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