Mutagenetix > Incidental Mutation

Incidental Mutation 'R0737:Txndc2'

70543

Institutional Source

Beutler Lab

Gene Symbol

Txndc2

Ensembl Gene

ENSMUSG00000050612

Gene Name

thioredoxin domain containing 2 (spermatozoa)

Synonyms

Sptrx-1

MMRRC Submission

038918-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

R0737 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65944502-65949163 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 65946548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000054909 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000050236

SMART Domains

Protein: ENSMUSP00000054909
Gene: ENSMUSG00000050612

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 94.8%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	T	A	X: 69,437,813 (GRCm39)		probably benign	Het
Aff4	T	A	11: 53,301,780 (GRCm39)	L1043*	probably null	Het
Ankrd11	G	T	8: 123,622,575 (GRCm39)	R426S	probably damaging	Het
Atm	T	A	9: 53,367,866 (GRCm39)	N2422I	probably damaging	Het
Bahcc1	C	A	11: 120,163,667 (GRCm39)	P655Q	probably damaging	Het
Baz2a	A	G	10: 127,951,949 (GRCm39)	I556V	possibly damaging	Het
Ccdc33	T	C	9: 57,989,331 (GRCm39)	D114G	probably damaging	Het
Cdk5rap2	T	C	4: 70,255,612 (GRCm39)	H424R	probably benign	Het
Cfap57	T	C	4: 118,438,299 (GRCm39)	E864G	possibly damaging	Het
Cit	T	A	5: 116,084,978 (GRCm39)	S836R	probably damaging	Het
Clip4	C	T	17: 72,144,694 (GRCm39)	Q95*	probably null	Het
Col17a1	C	T	19: 47,657,872 (GRCm39)	G433S	possibly damaging	Het
Col6a3	A	G	1: 90,756,020 (GRCm39)	F90L	probably damaging	Het
Cybc1	C	T	11: 121,118,068 (GRCm39)		probably null	Het
Degs1l	G	A	1: 180,882,944 (GRCm39)	M235I	probably benign	Het
Dnah9	T	C	11: 65,998,724 (GRCm39)	H1108R	probably damaging	Het
Elac1	A	T	18: 73,872,110 (GRCm39)	M295K	probably damaging	Het
Epas1	G	T	17: 87,136,884 (GRCm39)	G816C	possibly damaging	Het
Ermap	C	A	4: 119,035,707 (GRCm39)	C427F	probably damaging	Het
Fbxo44	T	C	4: 148,243,266 (GRCm39)		probably benign	Het
Fmo4	T	A	1: 162,635,961 (GRCm39)	K14*	probably null	Het
Gadl1	G	A	9: 115,903,055 (GRCm39)	M461I	probably damaging	Het
Garnl3	T	A	2: 32,880,654 (GRCm39)	I868F	probably damaging	Het
Gm7168	A	G	17: 14,169,245 (GRCm39)	D204G	probably damaging	Het
Hs6st3	T	C	14: 120,106,795 (GRCm39)	F401S	possibly damaging	Het
Kcnmb1	A	T	11: 33,914,701 (GRCm39)	M1L	probably benign	Het
Krt35	T	C	11: 99,984,620 (GRCm39)	T292A	probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lamb2	T	A	9: 108,360,993 (GRCm39)	W572R	probably benign	Het
Letmd1	A	G	15: 100,367,702 (GRCm39)	T87A	probably damaging	Het
Lrp2	A	G	2: 69,278,513 (GRCm39)	Y3947H	probably damaging	Het
Mocos	T	C	18: 24,822,044 (GRCm39)	F685L	probably damaging	Het
Nsun6	A	T	2: 15,001,285 (GRCm39)	F424I	probably damaging	Het
Nup88	A	G	11: 70,860,776 (GRCm39)	M1T	probably null	Het
Or13p5	C	T	4: 118,592,421 (GRCm39)	R232C	probably benign	Het
Or14c45	C	T	7: 86,176,195 (GRCm39)	P77S	probably damaging	Het
Or4c29	T	C	2: 88,740,617 (GRCm39)	N40S	probably damaging	Het
Pcdhb12	T	A	18: 37,570,762 (GRCm39)	V636D	probably damaging	Het
Pclo	C	A	5: 14,565,453 (GRCm39)	A73E	probably damaging	Het
Pdlim7	A	T	13: 55,652,693 (GRCm39)		probably null	Het
Phldb1	G	A	9: 44,610,933 (GRCm39)	P67S	possibly damaging	Het
Ppp2r2b	T	C	18: 43,192,257 (GRCm39)	T17A	probably benign	Het
Ppp4r3c2	A	G	X: 88,797,926 (GRCm39)	H586R	probably benign	Het
Rab11fip4	T	C	11: 79,574,328 (GRCm39)	V241A	probably benign	Het
Slc41a1	T	C	1: 131,768,690 (GRCm39)	L216P	probably damaging	Het
Slco1a8	G	T	6: 141,949,154 (GRCm39)	A74E	possibly damaging	Het
Smg6	T	A	11: 75,050,662 (GRCm39)	D1352E	probably damaging	Het
Tbc1d9	A	T	8: 83,985,942 (GRCm39)	I816F	probably damaging	Het
Tex264	T	C	9: 106,536,498 (GRCm39)	T220A	probably benign	Het
Tmco6	G	A	18: 36,874,829 (GRCm39)	V439I	probably damaging	Het
Tmem64	A	G	4: 15,266,717 (GRCm39)	I256V	probably damaging	Het
Tnks1bp1	A	G	2: 84,882,880 (GRCm39)	S236G	possibly damaging	Het
Tsc1	A	G	2: 28,560,942 (GRCm39)	T267A	possibly damaging	Het
Vmn2r94	G	A	17: 18,497,695 (GRCm39)	Q26*	probably null	Het
Zan	T	C	5: 137,387,511 (GRCm39)	D4900G	unknown	Het
Zkscan3	T	C	13: 21,572,766 (GRCm39)	T122A	probably benign	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
IGL00985:Txndc2	APN	17	65,945,544 (GRCm39)	missense	possibly damaging	0.95
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
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

Predicted Primers

PCR Primer
(F):5'- TGAAGGCATCTGATGAATGGTGTACAG -3'
(R):5'- GCTGCCTCAAAGCTCTCAAAGTCC -3'

Sequencing Primer
(F):5'- CTGATGAATGGTGTACAGATCTAAG -3'
(R):5'- AAGCTCTCAAAGTCCACTGTTG -3'

Posted On

2013-09-30