Mutagenetix > Incidental Mutation

Incidental Mutation 'R9359:Txndc2'

708603

Institutional Source

Beutler Lab

Gene Symbol

Txndc2

Ensembl Gene

ENSMUSG00000050612

Gene Name

thioredoxin domain containing 2 (spermatozoa)

Synonyms

Sptrx-1

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9359 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65637505-65642204 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 65637997 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 395 (T395I)

Ref Sequence

ENSEMBL: ENSMUSP00000054909 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000050236
AA Change: T395I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054909
Gene: ENSMUSG00000050612
AA Change: T395I

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (45/45)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angpt4	C	T	2: 151,938,972 (GRCm38)	T380M	probably damaging	Het
Ankrd50	A	T	3: 38,483,023 (GRCm38)	N60K	probably damaging	Het
Atp6v0a4	G	A	6: 38,082,113 (GRCm38)	T245I	probably benign	Het
Calcoco2	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,100,036 (GRCm38)		probably null	Het
Cyp2j13	T	C	4: 96,061,933 (GRCm38)	D277G	probably damaging	Het
Def8	A	T	8: 123,458,366 (GRCm38)	I310F	probably benign	Het
Dmtf1	A	G	5: 9,121,927 (GRCm38)	L503S	possibly damaging	Het
Dock1	T	C	7: 135,168,396 (GRCm38)	V1795A	probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611 (GRCm38)		probably benign	Het
Gabbr1	A	G	17: 37,070,713 (GRCm38)	T790A	probably damaging	Het
Glg1	C	T	8: 111,187,793 (GRCm38)	R453Q	probably benign	Het
Gm10549	C	T	18: 33,464,322 (GRCm38)	P54S	unknown	Het
Gm9992	G	T	17: 7,374,443 (GRCm38)	T202K	probably damaging	Het
Gpld1	G	A	13: 24,979,729 (GRCm38)	V502I	probably benign	Het
Ifnar1	C	T	16: 91,495,479 (GRCm38)	P207L	probably benign	Het
Inhba	A	G	13: 16,017,381 (GRCm38)	H29R	probably benign	Het
Insr	G	C	8: 3,158,717 (GRCm38)	P1248R	probably damaging	Het
Ipcef1	C	T	10: 6,890,663 (GRCm38)	D349N	probably damaging	Het
Itga4	T	A	2: 79,325,660 (GRCm38)	I990N	possibly damaging	Het
Malrd1	T	C	2: 15,614,177 (GRCm38)	V284A		Het
Maml2	C	T	9: 13,621,673 (GRCm38)	Q728*	probably null	Het
Mex3d	A	T	10: 80,381,747 (GRCm38)	N545K		Het
Mios	T	A	6: 8,214,894 (GRCm38)	V30E	probably benign	Het
Muc16	A	G	9: 18,537,764 (GRCm38)		probably null	Het
Naxd	A	G	8: 11,512,968 (GRCm38)	K303E	possibly damaging	Het
Olfr1438-ps1	T	A	19: 12,333,439 (GRCm38)	H139L	possibly damaging	Het
Olfr1497	C	T	19: 13,794,836 (GRCm38)	M258I	probably damaging	Het
Olfr263	T	C	13: 21,133,695 (GRCm38)	F307L	probably benign	Het
Olfr723	T	C	14: 49,929,449 (GRCm38)	T32A	probably benign	Het
Ovgp1	T	C	3: 105,986,567 (GRCm38)		probably benign	Het
Pknox1	C	T	17: 31,603,255 (GRCm38)	T332M	possibly damaging	Het
Ptgdr	A	G	14: 44,853,258 (GRCm38)	S348P		Het
Ptpdc1	T	A	13: 48,586,554 (GRCm38)	E467V	probably benign	Het
Qsox1	A	G	1: 155,782,597 (GRCm38)	S409P	probably damaging	Het
Rfx4	A	G	10: 84,905,057 (GRCm38)	T680A	probably benign	Het
Slc30a5	T	C	13: 100,813,462 (GRCm38)	T371A	probably damaging	Het
Slc5a7	A	T	17: 54,276,641 (GRCm38)	N540K	probably benign	Het
Slco6c1	A	T	1: 97,062,523 (GRCm38)	S664R	possibly damaging	Het
Tbxa2r	A	G	10: 81,333,124 (GRCm38)	S216G	probably damaging	Het
Tgm4	C	A	9: 123,052,772 (GRCm38)	S344R	probably damaging	Het
Thoc6	A	G	17: 23,668,849 (GRCm38)	V328A	possibly damaging	Het
Trim61	T	A	8: 65,014,576 (GRCm38)	Q11L	probably damaging	Het
Txndc9	T	C	1: 37,995,778 (GRCm38)	E15G	probably benign	Het
Uspl1	G	A	5: 149,209,671 (GRCm38)	V411M	probably damaging	Het
Vcpip1	A	G	1: 9,745,824 (GRCm38)	I778T	possibly damaging	Het
Vps54	A	G	11: 21,292,108 (GRCm38)	T408A	probably benign	Het
Wscd1	T	C	11: 71,759,973 (GRCm38)	L42P	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
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
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
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'- TTGATCACTCTCACCAAGCC -3'
(R):5'- AAAGACAGCATTCAGTCCAAGG -3'

Sequencing Primer
(F):5'- AAGCCTTCCTCCAGGGTC -3'
(R):5'- TTCAGTCCAAGGAGACTAAAGTC -3'

Posted On

2022-04-18