Mutagenetix > Incidental Mutation

Incidental Mutation 'R9403:Txndc2'

711368

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 #

R9403 (G1)

Quality Score

225.009

Status

Not 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: 99.9%
10x: 99.7%
20x: 99.0%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angpt4	C	T	2: 151,938,972 (GRCm38)	T380M	probably damaging	Het
Apoa5	G	C	9: 46,270,646 (GRCm38)	R340P	probably damaging	Het
Cyp3a41a	T	A	5: 145,702,198 (GRCm38)	Y320F	probably damaging	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
Dpys	C	G	15: 39,828,071 (GRCm38)	W285S	probably damaging	Het
Fam187b	T	C	7: 30,977,090 (GRCm38)	V8A		Het
Fbn2	T	C	18: 58,066,107 (GRCm38)	E1363G	probably damaging	Het
Glg1	C	T	8: 111,187,793 (GRCm38)	R453Q	probably benign	Het
Gm5591	T	C	7: 38,522,256 (GRCm38)	T130A	probably damaging	Het
Gm5591	T	A	7: 38,520,148 (GRCm38)	M434L	probably benign	Het
Gpld1	G	A	13: 24,979,729 (GRCm38)	V502I	probably benign	Het
Inhba	A	G	13: 16,017,381 (GRCm38)	H29R	probably benign	Het
Itga4	T	A	2: 79,325,660 (GRCm38)	I990N	possibly damaging	Het
Kcnma1	T	A	14: 23,543,077 (GRCm38)	I280L	probably benign	Het
Malrd1	T	C	2: 15,614,177 (GRCm38)	V284A		Het
Maml2	C	T	9: 13,621,673 (GRCm38)	Q728*	probably null	Het
Mkln1	T	C	6: 31,432,970 (GRCm38)	L181P	probably damaging	Het
Mms22l	T	C	4: 24,580,204 (GRCm38)		probably null	Het
Muc16	A	G	9: 18,537,764 (GRCm38)		probably null	Het
Mylk	C	A	16: 34,875,642 (GRCm38)	S249*	probably null	Het
Naa35	G	A	13: 59,601,003 (GRCm38)	A150T	possibly damaging	Het
Naip5	T	A	13: 100,219,830 (GRCm38)	E1092D	probably benign	Het
Nup205	G	A	6: 35,199,974 (GRCm38)	R635H	probably benign	Het
Nup50l	T	G	6: 96,165,299 (GRCm38)	T255P	probably benign	Het
Or2w1	T	C	13: 21,133,695 (GRCm38)	F307L	probably benign	Het
Or4l1	T	C	14: 49,929,449 (GRCm38)	T32A	probably benign	Het
Padi3	T	C	4: 140,810,532 (GRCm38)	I26V	probably benign	Het
Polq	T	C	16: 37,061,853 (GRCm38)	S1460P	probably benign	Het
Ptgdr	A	G	14: 44,853,258 (GRCm38)	S348P		Het
Qsox1	A	G	1: 155,782,597 (GRCm38)	S409P	probably damaging	Het
Rergl	T	A	6: 139,494,854 (GRCm38)	Y99F	possibly damaging	Het
Rptn	C	A	3: 93,395,042 (GRCm38)	H22N	probably benign	Het
Semp2l2b	C	T	10: 22,067,941 (GRCm38)	D47N	possibly damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570 (GRCm38)		probably benign	Het
Sh2b1	GGACCAGCTCAG	GGACCAGCTCAGTCACGGTGACCAGCTCAG	7: 126,467,573 (GRCm38)		probably null	Het
Sh2b1	ACCAGCTCAGCCACGGGG	ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG	7: 126,467,575 (GRCm38)		probably benign	Het
Slc2a3	A	C	6: 122,736,610 (GRCm38)	I214M	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
Tgm4	C	A	9: 123,052,772 (GRCm38)	S344R	probably damaging	Het
Trim61	T	A	8: 65,014,576 (GRCm38)	Q11L	probably damaging	Het
Trpm6	C	A	19: 18,832,652 (GRCm38)	D1137E	possibly damaging	Het
Txndc9	T	C	1: 37,995,778 (GRCm38)	E15G	probably benign	Het
Vcpip1	A	G	1: 9,745,824 (GRCm38)	I778T	possibly damaging	Het
Zfp383	T	C	7: 29,915,259 (GRCm38)	F313S	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
R9359: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'- AAGACAGCATTCAGTCCAAGG -3'

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

Posted On

2022-05-16