Mutagenetix > Incidental Mutation

Incidental Mutation 'R8713:Tdrd6'

669736

Institutional Source

Beutler Lab

Gene Symbol

Tdrd6

Ensembl Gene

ENSMUSG00000040140

Gene Name

tudor domain containing 6

Synonyms

MMRRC Submission

068567-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8713 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43615335-43630299 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43625019 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1713 (S1713P)

Ref Sequence

ENSEMBL: ENSMUSP00000131277 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045717] [ENSMUST00000168073]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000045717
AA Change: S1713P

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035338
Gene: ENSMUSG00000040140
AA Change: S1713P

Domain	Start	End	E-Value	Type
Pfam:TUDOR	14	133	9.9e-9	PFAM
low complexity region	166	187	N/A	INTRINSIC
TUDOR	308	366	1.14e-2	SMART
low complexity region	452	463	N/A	INTRINSIC
TUDOR	541	597	2.68e-8	SMART
TUDOR	817	877	2.56e-5	SMART
TUDOR	1037	1090	5.36e-8	SMART
TUDOR	1357	1415	2.19e-13	SMART
TUDOR	1569	1628	3.1e-13	SMART
low complexity region	1826	1842	N/A	INTRINSIC
low complexity region	1866	1876	N/A	INTRINSIC
TUDOR	2026	2083	9.45e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168073
AA Change: S1713P

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131277
Gene: ENSMUSG00000040140
AA Change: S1713P

Domain	Start	End	E-Value	Type
Pfam:TUDOR	12	133	7.2e-9	PFAM
low complexity region	166	187	N/A	INTRINSIC
TUDOR	308	366	1.14e-2	SMART
low complexity region	452	463	N/A	INTRINSIC
TUDOR	541	597	2.68e-8	SMART
TUDOR	817	877	2.56e-5	SMART
TUDOR	1037	1090	5.36e-8	SMART
TUDOR	1357	1415	2.19e-13	SMART
TUDOR	1569	1628	3.1e-13	SMART
low complexity region	1826	1842	N/A	INTRINSIC
low complexity region	1866	1876	N/A	INTRINSIC
TUDOR	2027	2084	9.45e-1	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tudor domain-containing protein and component of the chromatoid body, a type of ribonucleoprotein granule present in male germ cells. Studies in rodents have demonstrated a role for the encoded protein in spermiogenesis and the nonsense mediated decay (NMD) pathway. This protein is a major autoantigen in human patients with autoimmune polyendocrine syndrome type 1 (APS1). [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit male fertility associated with arrested spermatogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,873,174 (GRCm38)	A581V	possibly damaging	Het
Adam18	T	A	8: 24,652,173 (GRCm38)	M196L	probably benign	Het
Ankrd10	A	G	8: 11,628,491 (GRCm38)	S134P	probably damaging	Het
Ano8	C	T	8: 71,485,077 (GRCm38)	G47D	probably damaging	Het
Arl6ip4	T	C	5: 124,116,762 (GRCm38)	V4A	unknown	Het
Cabp4	C	T	19: 4,136,160 (GRCm38)	M247I	probably benign	Het
Ccdc30	A	T	4: 119,404,207 (GRCm38)	L11Q	probably damaging	Het
Cdkl4	A	G	17: 80,533,863 (GRCm38)	S288P	possibly damaging	Het
Celsr3	A	G	9: 108,829,863 (GRCm38)	I1182V	probably benign	Het
Dnah17	T	C	11: 118,088,202 (GRCm38)	D1788G	probably damaging	Het
Dsp	A	G	13: 38,168,725 (GRCm38)	D193G	probably damaging	Het
Dym	T	G	18: 75,056,738 (GRCm38)	Y132*	probably null	Het
Dync2h1	G	A	9: 7,141,008 (GRCm38)	Q1340*	probably null	Het
Elmo1	T	C	13: 20,274,621 (GRCm38)		probably benign	Het
Fbxw15	A	C	9: 109,555,599 (GRCm38)	F378V	possibly damaging	Het
Fsip2	G	A	2: 82,981,109 (GRCm38)	G2591R	probably damaging	Het
Gps2	C	A	11: 69,915,354 (GRCm38)	D148E	probably benign	Het
Iars2	T	C	1: 185,291,418 (GRCm38)	D772G	possibly damaging	Het
Ifit1	T	A	19: 34,647,638 (GRCm38)	L58Q	probably benign	Het
Kctd4	A	T	14: 75,962,926 (GRCm38)	Q112H	probably benign	Het
Letm1	A	G	5: 33,762,505 (GRCm38)	L230P	probably damaging	Het
Lrch4	G	T	5: 137,639,863 (GRCm38)	E136*	probably null	Het
Macc1	T	C	12: 119,443,526 (GRCm38)		probably benign	Het
Macrod1	T	C	19: 7,057,126 (GRCm38)	L79P	probably benign	Het
Map2	T	A	1: 66,414,622 (GRCm38)	N890K	probably damaging	Het
Mctp1	G	A	13: 76,641,803 (GRCm38)	S270N	probably benign	Het
Mrpl44	C	T	1: 79,777,991 (GRCm38)	R105C	probably damaging	Het
Mtg1	T	C	7: 140,140,223 (GRCm38)	F68L	probably benign	Het
Mtg1	T	A	7: 140,137,775 (GRCm38)		probably null	Het
Nfil3	A	G	13: 52,968,011 (GRCm38)	S286P	possibly damaging	Het
Nutm1	A	G	2: 112,251,322 (GRCm38)	V332A	possibly damaging	Het
Obscn	T	A	11: 59,135,966 (GRCm38)	Q137L	probably benign	Het
Pcnx2	T	G	8: 125,818,786 (GRCm38)	E1162A	probably damaging	Het
Pgr	A	G	9: 8,900,817 (GRCm38)	D117G	possibly damaging	Het
Plce1	T	C	19: 38,524,901 (GRCm38)	C215R	probably benign	Het
Rrm1	T	G	7: 102,460,351 (GRCm38)	Y461D	probably damaging	Het
Sbk3	C	T	7: 4,969,992 (GRCm38)	V60I	possibly damaging	Het
Scube1	G	T	15: 83,610,270 (GRCm38)	A852E	possibly damaging	Het
Sec24d	T	A	3: 123,343,892 (GRCm38)	I561N	probably damaging	Het
Slc16a4	T	C	3: 107,311,585 (GRCm38)	*501Q	probably null	Het
Slc6a19	C	A	13: 73,700,621 (GRCm38)	V5L	probably benign	Het
Spryd3	A	G	15: 102,133,485 (GRCm38)	I34T	possibly damaging	Het
Syne1	A	G	10: 5,316,040 (GRCm38)	L2191P	probably damaging	Het
Tbrg1	A	G	9: 37,652,659 (GRCm38)	C227R	probably damaging	Het
Thap12	C	T	7: 98,707,076 (GRCm38)	L57F	probably benign	Het
Top1	G	A	2: 160,717,440 (GRCm38)	V628I	probably damaging	Het
Trim67	A	G	8: 124,820,335 (GRCm38)	M495V	probably null	Het
Trio	A	C	15: 27,743,951 (GRCm38)		probably benign	Het
Vmn2r23	A	T	6: 123,703,032 (GRCm38)	Y71F		Het
Ywhah	A	G	5: 33,027,191 (GRCm38)	N246S	probably benign	Het
Zcwpw1	T	C	5: 137,799,532 (GRCm38)	I125T	probably benign	Het

Other mutations in Tdrd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Tdrd6	APN	17	43,628,160 (GRCm38)	missense	probably damaging	0.96
IGL00844:Tdrd6	APN	17	43,617,196 (GRCm38)	missense	probably benign
IGL00845:Tdrd6	APN	17	43,626,716 (GRCm38)	missense	probably benign	0.06
IGL01558:Tdrd6	APN	17	43,625,768 (GRCm38)	missense	probably damaging	1.00
IGL01558:Tdrd6	APN	17	43,624,766 (GRCm38)	missense	probably benign	0.02
IGL01575:Tdrd6	APN	17	43,627,980 (GRCm38)	missense	probably benign	0.00
IGL01812:Tdrd6	APN	17	43,625,174 (GRCm38)	missense	probably benign	0.10
IGL02013:Tdrd6	APN	17	43,625,946 (GRCm38)	missense	probably benign	0.00
IGL02067:Tdrd6	APN	17	43,628,209 (GRCm38)	missense	probably damaging	1.00
IGL02112:Tdrd6	APN	17	43,629,351 (GRCm38)	missense	probably damaging	1.00
IGL02159:Tdrd6	APN	17	43,628,390 (GRCm38)	missense	probably damaging	1.00
IGL02226:Tdrd6	APN	17	43,627,202 (GRCm38)	missense	probably damaging	1.00
IGL02416:Tdrd6	APN	17	43,624,738 (GRCm38)	missense	probably benign	0.39
IGL02577:Tdrd6	APN	17	43,626,837 (GRCm38)	missense	probably damaging	0.99
IGL02631:Tdrd6	APN	17	43,626,219 (GRCm38)	missense	probably damaging	1.00
IGL02738:Tdrd6	APN	17	43,620,446 (GRCm38)	missense	probably benign	0.06
IGL02792:Tdrd6	APN	17	43,625,027 (GRCm38)	missense	probably benign
IGL02929:Tdrd6	APN	17	43,629,713 (GRCm38)	missense	possibly damaging	0.61
IGL02934:Tdrd6	APN	17	43,627,887 (GRCm38)	missense	probably benign	0.42
IGL02954:Tdrd6	APN	17	43,627,262 (GRCm38)	missense	possibly damaging	0.82
IGL02969:Tdrd6	APN	17	43,627,549 (GRCm38)	missense	probably damaging	0.98
IGL03006:Tdrd6	APN	17	43,625,432 (GRCm38)	missense	probably damaging	1.00
IGL03155:Tdrd6	APN	17	43,625,507 (GRCm38)	missense	probably damaging	1.00
IGL03219:Tdrd6	APN	17	43,627,964 (GRCm38)	missense	probably benign	0.04
IGL03372:Tdrd6	APN	17	43,625,568 (GRCm38)	missense	probably damaging	1.00
Edward	UTSW	17	43,627,215 (GRCm38)	missense	probably damaging	1.00
eliza	UTSW	17	43,628,162 (GRCm38)	missense	possibly damaging	0.90
Elizabeth	UTSW	17	43,624,204 (GRCm38)	missense	probably benign	0.00
henry	UTSW	17	43,628,159 (GRCm38)	missense	probably damaging	0.99
BB001:Tdrd6	UTSW	17	43,627,806 (GRCm38)	missense	possibly damaging	0.94
BB011:Tdrd6	UTSW	17	43,627,806 (GRCm38)	missense	possibly damaging	0.94
G1citation:Tdrd6	UTSW	17	43,627,215 (GRCm38)	missense	probably damaging	1.00
R0030:Tdrd6	UTSW	17	43,626,591 (GRCm38)	missense	possibly damaging	0.80
R0057:Tdrd6	UTSW	17	43,617,161 (GRCm38)	splice site	probably benign
R0090:Tdrd6	UTSW	17	43,628,241 (GRCm38)	missense	probably benign	0.00
R0270:Tdrd6	UTSW	17	43,624,308 (GRCm38)	missense	probably benign
R0463:Tdrd6	UTSW	17	43,625,561 (GRCm38)	missense	probably damaging	1.00
R0594:Tdrd6	UTSW	17	43,629,383 (GRCm38)	missense	probably damaging	1.00
R0650:Tdrd6	UTSW	17	43,628,159 (GRCm38)	missense	probably damaging	0.99
R1226:Tdrd6	UTSW	17	43,626,632 (GRCm38)	missense	possibly damaging	0.63
R1309:Tdrd6	UTSW	17	43,626,621 (GRCm38)	missense	probably benign
R1483:Tdrd6	UTSW	17	43,627,607 (GRCm38)	missense	probably benign	0.31
R1561:Tdrd6	UTSW	17	43,625,624 (GRCm38)	missense	probably damaging	0.96
R1574:Tdrd6	UTSW	17	43,625,624 (GRCm38)	missense	probably damaging	0.96
R1647:Tdrd6	UTSW	17	43,627,109 (GRCm38)	missense	possibly damaging	0.49
R1648:Tdrd6	UTSW	17	43,627,109 (GRCm38)	missense	possibly damaging	0.49
R1723:Tdrd6	UTSW	17	43,628,327 (GRCm38)	missense	possibly damaging	0.94
R1786:Tdrd6	UTSW	17	43,624,833 (GRCm38)	missense	probably benign	0.01
R1819:Tdrd6	UTSW	17	43,626,551 (GRCm38)	missense	probably benign	0.00
R1836:Tdrd6	UTSW	17	43,625,589 (GRCm38)	missense	probably benign	0.03
R1892:Tdrd6	UTSW	17	43,624,805 (GRCm38)	missense	probably benign	0.00
R1911:Tdrd6	UTSW	17	43,627,088 (GRCm38)	missense	probably benign	0.21
R1936:Tdrd6	UTSW	17	43,626,467 (GRCm38)	missense	probably damaging	0.98
R2005:Tdrd6	UTSW	17	43,628,655 (GRCm38)	missense	probably damaging	1.00
R2006:Tdrd6	UTSW	17	43,628,655 (GRCm38)	missense	probably damaging	1.00
R2132:Tdrd6	UTSW	17	43,624,833 (GRCm38)	missense	probably benign	0.01
R2133:Tdrd6	UTSW	17	43,624,833 (GRCm38)	missense	probably benign	0.01
R3010:Tdrd6	UTSW	17	43,628,042 (GRCm38)	missense	probably benign	0.00
R4225:Tdrd6	UTSW	17	43,625,973 (GRCm38)	missense	probably damaging	1.00
R4448:Tdrd6	UTSW	17	43,629,735 (GRCm38)	missense	probably benign	0.26
R4449:Tdrd6	UTSW	17	43,629,735 (GRCm38)	missense	probably benign	0.26
R4531:Tdrd6	UTSW	17	43,628,754 (GRCm38)	missense	probably damaging	0.98
R4624:Tdrd6	UTSW	17	43,625,990 (GRCm38)	missense	probably damaging	0.99
R4665:Tdrd6	UTSW	17	43,624,116 (GRCm38)	missense	probably benign
R4676:Tdrd6	UTSW	17	43,627,610 (GRCm38)	missense	probably damaging	0.96
R4785:Tdrd6	UTSW	17	43,625,576 (GRCm38)	missense	probably damaging	1.00
R4912:Tdrd6	UTSW	17	43,624,327 (GRCm38)	missense	probably benign	0.34
R5134:Tdrd6	UTSW	17	43,626,210 (GRCm38)	missense	probably damaging	1.00
R5145:Tdrd6	UTSW	17	43,626,075 (GRCm38)	missense	probably damaging	0.96
R5623:Tdrd6	UTSW	17	43,629,333 (GRCm38)	missense	probably damaging	1.00
R5712:Tdrd6	UTSW	17	43,626,408 (GRCm38)	missense	probably damaging	1.00
R5897:Tdrd6	UTSW	17	43,624,877 (GRCm38)	missense	probably damaging	0.98
R5913:Tdrd6	UTSW	17	43,628,411 (GRCm38)	missense	possibly damaging	0.73
R6142:Tdrd6	UTSW	17	43,629,482 (GRCm38)	missense	probably benign	0.01
R6181:Tdrd6	UTSW	17	43,628,897 (GRCm38)	missense	probably damaging	1.00
R6195:Tdrd6	UTSW	17	43,629,752 (GRCm38)	missense	probably damaging	1.00
R6233:Tdrd6	UTSW	17	43,629,752 (GRCm38)	missense	probably damaging	1.00
R6289:Tdrd6	UTSW	17	43,624,520 (GRCm38)	missense	probably benign	0.01
R6315:Tdrd6	UTSW	17	43,626,338 (GRCm38)	missense	probably benign	0.02
R6578:Tdrd6	UTSW	17	43,628,961 (GRCm38)	missense	possibly damaging	0.65
R6645:Tdrd6	UTSW	17	43,624,532 (GRCm38)	missense	probably benign	0.10
R6822:Tdrd6	UTSW	17	43,627,215 (GRCm38)	missense	probably damaging	1.00
R7000:Tdrd6	UTSW	17	43,627,708 (GRCm38)	missense	probably benign	0.28
R7075:Tdrd6	UTSW	17	43,625,174 (GRCm38)	missense	probably benign	0.10
R7107:Tdrd6	UTSW	17	43,624,204 (GRCm38)	missense	probably benign	0.00
R7381:Tdrd6	UTSW	17	43,626,093 (GRCm38)	missense	probably benign	0.00
R7458:Tdrd6	UTSW	17	43,625,046 (GRCm38)	missense	probably benign	0.02
R7461:Tdrd6	UTSW	17	43,627,926 (GRCm38)	missense	probably benign	0.00
R7505:Tdrd6	UTSW	17	43,627,679 (GRCm38)	missense	not run
R7583:Tdrd6	UTSW	17	43,624,238 (GRCm38)	missense	probably benign	0.29
R7613:Tdrd6	UTSW	17	43,627,926 (GRCm38)	missense	probably benign	0.00
R7723:Tdrd6	UTSW	17	43,625,960 (GRCm38)	missense	probably benign	0.09
R7759:Tdrd6	UTSW	17	43,624,839 (GRCm38)	missense	probably benign	0.00
R7924:Tdrd6	UTSW	17	43,627,806 (GRCm38)	missense	possibly damaging	0.94
R8002:Tdrd6	UTSW	17	43,629,819 (GRCm38)	missense	probably damaging	0.98
R8134:Tdrd6	UTSW	17	43,626,173 (GRCm38)	missense	probably damaging	0.99
R8231:Tdrd6	UTSW	17	43,622,135 (GRCm38)	missense	probably damaging	1.00
R8242:Tdrd6	UTSW	17	43,628,930 (GRCm38)	missense	probably damaging	1.00
R8542:Tdrd6	UTSW	17	43,624,892 (GRCm38)	missense	probably damaging	1.00
R9100:Tdrd6	UTSW	17	43,625,414 (GRCm38)	missense	possibly damaging	0.76
R9201:Tdrd6	UTSW	17	43,625,670 (GRCm38)	missense	probably benign	0.00
R9222:Tdrd6	UTSW	17	43,628,340 (GRCm38)	missense	probably damaging	1.00
R9369:Tdrd6	UTSW	17	43,625,326 (GRCm38)	missense	probably damaging	1.00
R9373:Tdrd6	UTSW	17	43,628,162 (GRCm38)	missense	possibly damaging	0.90
R9384:Tdrd6	UTSW	17	43,626,892 (GRCm38)	missense	probably benign	0.26
R9448:Tdrd6	UTSW	17	43,625,676 (GRCm38)	missense	probably benign
R9534:Tdrd6	UTSW	17	43,625,619 (GRCm38)	missense	probably benign	0.19
R9613:Tdrd6	UTSW	17	43,628,627 (GRCm38)	missense	probably damaging	0.99
X0065:Tdrd6	UTSW	17	43,625,993 (GRCm38)	missense	probably damaging	0.99
X0065:Tdrd6	UTSW	17	43,625,153 (GRCm38)	missense	possibly damaging	0.80
Z1088:Tdrd6	UTSW	17	43,626,518 (GRCm38)	missense	probably benign	0.23
Z1177:Tdrd6	UTSW	17	43,627,187 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGTGCTGCGTTCATAGAATTTAC -3'
(R):5'- CGCTGGATTCTCAGTCTCTG -3'

Sequencing Primer
(F):5'- GCTGCGTTCATAGAATTTACTTGTC -3'
(R):5'- GGTGTGTGCCCTCAAGAAG -3'

Posted On

2021-04-30