Mutagenetix > Incidental Mutation

Incidental Mutation 'R4063:Txndc2'

315990

Institutional Source

Beutler Lab

Gene Symbol

Txndc2

Ensembl Gene

ENSMUSG00000050612

Gene Name

thioredoxin domain containing 2 (spermatozoa)

Synonyms

Sptrx-1

MMRRC Submission

041619-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R4063 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65637505-65642204 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65638084 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 366 (I366T)

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: I366T

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

SMART Domains

Protein: ENSMUSP00000054909
Gene: ENSMUSG00000050612
AA Change: I366T

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

Meta Mutation Damage Score

0.1034

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (59/61)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	T	6: 146,953,108 (GRCm38)	F145L	probably benign	Het
Abcc9	T	C	6: 142,605,919 (GRCm38)	D1221G	possibly damaging	Het
Adamtsl4	T	C	3: 95,677,554 (GRCm38)	K935E	probably benign	Het
Ago4	A	T	4: 126,515,862 (GRCm38)		probably benign	Het
Arhgef28	T	C	13: 97,994,067 (GRCm38)	D421G	probably benign	Het
Armh4	T	A	14: 49,773,987 (GRCm38)	M88L	probably benign	Het
Atl2	T	C	17: 79,850,159 (GRCm38)	*413W	probably null	Het
B4galt7	C	A	13: 55,608,339 (GRCm38)		probably null	Het
Bltp3b	A	G	10: 89,816,055 (GRCm38)	N247S	probably benign	Het
C8g	A	T	2: 25,499,413 (GRCm38)	S147T	probably damaging	Het
Clstn3	A	T	6: 124,449,833 (GRCm38)	Y510N	possibly damaging	Het
Cnot2	A	G	10: 116,537,396 (GRCm38)	V34A	possibly damaging	Het
Cyb5d2	A	T	11: 72,795,780 (GRCm38)		probably benign	Het
Dnah5	T	C	15: 28,420,998 (GRCm38)	I3827T	probably damaging	Het
Dnah7a	G	T	1: 53,425,217 (GRCm38)	Q3672K	probably benign	Het
Dock1	A	T	7: 135,115,292 (GRCm38)	Y1219F	possibly damaging	Het
Espl1	A	G	15: 102,312,989 (GRCm38)	I944V	probably damaging	Het
Fat1	A	T	8: 45,025,481 (GRCm38)	E2521D	probably benign	Het
Gm10719	G	T	9: 3,019,043 (GRCm38)	W96L	probably damaging	Het
H2-M2	G	A	17: 37,481,508 (GRCm38)	H291Y	probably damaging	Het
Hmgcl	T	C	4: 135,958,724 (GRCm38)	Y167H	probably damaging	Het
Il22ra2	A	T	10: 19,626,652 (GRCm38)	D73V	possibly damaging	Het
Incenp	A	T	19: 9,883,778 (GRCm38)	M480K	unknown	Het
Irag1	G	T	7: 110,923,777 (GRCm38)	A359D	probably benign	Het
Kdm6a	A	G	X: 18,250,875 (GRCm38)	T266A	probably benign	Het
Lipf	A	G	19: 33,965,565 (GRCm38)	N91S	probably benign	Het
M1ap	A	T	6: 83,003,775 (GRCm38)	N214I	probably damaging	Het
Mast3	A	G	8: 70,781,194 (GRCm38)	V969A	probably damaging	Het
Mdga1	A	G	17: 29,838,031 (GRCm38)	C826R	probably damaging	Het
Msx1	C	A	5: 37,824,021 (GRCm38)	A105S	probably benign	Het
Or5ac23	A	C	16: 59,328,880 (GRCm38)	S210A	probably benign	Het
Otogl	A	T	10: 107,790,649 (GRCm38)	D1451E	probably benign	Het
Otop2	G	A	11: 115,329,375 (GRCm38)	G347D	probably damaging	Het
Ppp1r13l	A	T	7: 19,370,053 (GRCm38)	H153L	probably benign	Het
Pramel21	A	G	4: 143,615,989 (GRCm38)	D222G	possibly damaging	Het
Pramel29	T	C	4: 144,208,695 (GRCm38)	K161E	possibly damaging	Het
Proz	A	G	8: 13,064,621 (GRCm38)	Y85C	probably damaging	Het
Prss50	A	G	9: 110,858,412 (GRCm38)	D141G	probably benign	Het
Rad54l2	T	A	9: 106,720,414 (GRCm38)	Q131L	probably benign	Het
Sdha	A	G	13: 74,323,958 (GRCm38)		probably benign	Het
Sema3d	T	A	5: 12,585,124 (GRCm38)	I719N	probably benign	Het
Slc18b1	A	T	10: 23,805,981 (GRCm38)	I148L	probably benign	Het
Tacc2	G	T	7: 130,729,122 (GRCm38)	D2086Y	probably damaging	Het
Tchh	T	C	3: 93,446,991 (GRCm38)	L1246P	unknown	Het
Tmprss11d	T	C	5: 86,309,318 (GRCm38)	I161V	probably benign	Het
Trpc3	T	C	3: 36,671,023 (GRCm38)	D268G	probably damaging	Het
Trpm8	G	A	1: 88,362,005 (GRCm38)	R895H	probably damaging	Het
Ugt2a3	T	C	5: 87,336,866 (GRCm38)	I100V	probably benign	Het
Upp1	C	A	11: 9,131,709 (GRCm38)	P82Q	probably damaging	Het
Vim	A	G	2: 13,580,016 (GRCm38)		probably null	Het
Vmn2r12	A	T	5: 109,092,192 (GRCm38)	N168K	possibly damaging	Het
Zdhhc14	G	T	17: 5,752,708 (GRCm38)	C362F	probably damaging	Het
Zfp292	A	G	4: 34,810,863 (GRCm38)	V727A	probably damaging	Het
Zswim5	G	A	4: 116,877,980 (GRCm38)	G174D	unknown	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCAAGGCCTAAGAGTTTGC -3'
(R):5'- AGACAGCGTCCAATCCAAGG -3'

Sequencing Primer
(F):5'- GAGAGCTGCACATCTTCTTCTG -3'
(R):5'- TCCAATCCAAGGAAGGTGAAGTCC -3'

Posted On

2015-05-15