Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00985:Txndc2'

29374

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: 0.216) question?

Stock #

IGL00985

Quality Score

Status

Chromosome

Chromosomal Location

65944502-65949163 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 65945544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 211 (S211Y)

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: S211Y

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054909
Gene: ENSMUSG00000050612
AA Change: S211Y

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
A630091E08Rik	G	T	7: 98,193,125 (GRCm39)		noncoding transcript	Het
Abca15	G	A	7: 119,996,241 (GRCm39)	G1389E	probably damaging	Het
Adcy3	T	C	12: 4,184,600 (GRCm39)	V92A	probably damaging	Het
Aoc1l1	A	G	6: 48,954,481 (GRCm39)	S540G	probably benign	Het
Aplnr	A	T	2: 84,968,007 (GRCm39)	Y344F	probably benign	Het
Atm	A	T	9: 53,371,116 (GRCm39)	V2241E	probably damaging	Het
Cep290	T	C	10: 100,403,023 (GRCm39)		probably benign	Het
Cnpy1	A	T	5: 28,414,152 (GRCm39)	Y91*	probably null	Het
Cobl	C	A	11: 12,204,843 (GRCm39)	G613W	probably damaging	Het
Csn1s2a	T	C	5: 87,932,439 (GRCm39)	S121P	possibly damaging	Het
Flg2	A	T	3: 93,110,585 (GRCm39)	Y871F	unknown	Het
Gapvd1	T	A	2: 34,585,575 (GRCm39)	D1008V	probably damaging	Het
Gask1a	T	C	9: 121,807,401 (GRCm39)	L515P	probably damaging	Het
Igfl3	T	C	7: 17,914,000 (GRCm39)		probably null	Het
Kmt2b	A	T	7: 30,279,352 (GRCm39)	V1470E	probably damaging	Het
Mcc	A	T	18: 44,624,306 (GRCm39)	L413Q	probably damaging	Het
Mia2	G	A	12: 59,235,146 (GRCm39)	G610D	probably damaging	Het
Mlst8	A	T	17: 24,696,287 (GRCm39)	D147E	probably damaging	Het
Muc19	G	T	15: 91,770,943 (GRCm39)		noncoding transcript	Het
Mybpc3	A	G	2: 90,965,704 (GRCm39)	E1172G	probably benign	Het
Niban3	T	C	8: 72,057,507 (GRCm39)		probably benign	Het
Nop14	A	T	5: 34,802,133 (GRCm39)	L557Q	probably damaging	Het
P3h3	T	C	6: 124,822,552 (GRCm39)	T540A	probably benign	Het
Phc3	T	A	3: 30,968,346 (GRCm39)	I897F	probably benign	Het
Plekhh2	G	A	17: 84,871,356 (GRCm39)	V205I	probably benign	Het
Poc5	A	G	13: 96,547,254 (GRCm39)	K506E	probably damaging	Het
Pum1	C	A	4: 130,471,100 (GRCm39)	T450K	probably damaging	Het
Retnlg	G	A	16: 48,694,688 (GRCm39)	R112H	possibly damaging	Het
Rgl2	T	C	17: 34,151,075 (GRCm39)	V101A	probably damaging	Het
Serinc5	A	G	13: 92,842,779 (GRCm39)	T410A	probably damaging	Het
Shroom1	T	C	11: 53,356,796 (GRCm39)	V553A	probably benign	Het
Slco4c1	A	T	1: 96,768,912 (GRCm39)	W317R	probably damaging	Het
Snap91	T	C	9: 86,703,790 (GRCm39)	T268A	probably benign	Het
Supt16	T	C	14: 52,399,148 (GRCm39)	K1044E	possibly damaging	Het
Tarbp1	A	T	8: 127,185,900 (GRCm39)	L431I	probably damaging	Het
Tas2r124	C	T	6: 132,732,492 (GRCm39)	T267I	probably benign	Het
Tm7sf3	C	T	6: 146,507,692 (GRCm39)	V457I	possibly damaging	Het
Tmem132c	A	T	5: 127,581,930 (GRCm39)	S382C	probably damaging	Het
Tmprss7	C	A	16: 45,482,685 (GRCm39)	C582F	probably damaging	Het
Tsc2	T	C	17: 24,816,105 (GRCm39)	E1694G	probably damaging	Het
Ubr3	A	C	2: 69,833,775 (GRCm39)	T205P	probably damaging	Het
Vmn2r116	G	A	17: 23,620,489 (GRCm39)	G741D	probably damaging	Het
Vps8	G	A	16: 21,296,334 (GRCm39)		probably benign	Het
Wdr19	G	A	5: 65,409,642 (GRCm39)	D1127N	probably benign	Het
Zim1	T	A	7: 6,685,759 (GRCm39)	Y83F	possibly damaging	Het

Other mutations in Txndc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Txndc2	APN	17	65,945,569 (GRCm39)	missense	probably benign	0.41
IGL01304:Txndc2	APN	17	65,945,448 (GRCm39)	missense	possibly damaging	0.79
IGL01525:Txndc2	APN	17	65,945,908 (GRCm39)	missense	possibly damaging	0.84
IGL02472:Txndc2	APN	17	65,944,971 (GRCm39)	missense	possibly damaging	0.86
IGL02559:Txndc2	APN	17	65,946,585 (GRCm39)	missense	possibly damaging	0.91
IGL02802:Txndc2	UTSW	17	65,946,601 (GRCm39)	missense	possibly damaging	0.93
R0508:Txndc2	UTSW	17	65,944,948 (GRCm39)	missense	probably benign	0.01
R0737:Txndc2	UTSW	17	65,946,548 (GRCm39)	critical splice donor site	probably null
R1525:Txndc2	UTSW	17	65,945,310 (GRCm39)	missense	probably damaging	1.00
R1569:Txndc2	UTSW	17	65,945,921 (GRCm39)	missense	probably benign	0.44
R1746:Txndc2	UTSW	17	65,945,130 (GRCm39)	missense	probably damaging	1.00
R4063:Txndc2	UTSW	17	65,945,079 (GRCm39)	missense	possibly damaging	0.86
R4971:Txndc2	UTSW	17	65,945,849 (GRCm39)	missense	probably damaging	0.96
R4983:Txndc2	UTSW	17	65,945,055 (GRCm39)	missense	probably benign	0.01
R6177:Txndc2	UTSW	17	65,945,466 (GRCm39)	missense	probably benign	0.44
R6762:Txndc2	UTSW	17	65,945,967 (GRCm39)	missense	probably damaging	0.99
R6915:Txndc2	UTSW	17	65,945,286 (GRCm39)	missense	probably benign
R7574:Txndc2	UTSW	17	65,945,620 (GRCm39)	missense	possibly damaging	0.86
R7775:Txndc2	UTSW	17	65,945,238 (GRCm39)	missense	probably benign	0.01
R9294:Txndc2	UTSW	17	65,946,019 (GRCm39)	missense	unknown
R9359:Txndc2	UTSW	17	65,944,992 (GRCm39)	missense	probably damaging	0.99
R9403:Txndc2	UTSW	17	65,944,992 (GRCm39)	missense	probably damaging	0.99
R9669:Txndc2	UTSW	17	65,945,583 (GRCm39)	missense	probably damaging	0.96

Posted On

2013-04-17