Mutagenetix > Incidental Mutation

Incidental Mutation 'R7381:Tdrd6'

572763

Institutional Source

Beutler Lab

Gene Symbol

Tdrd6

Ensembl Gene

ENSMUSG00000040140

Gene Name

tudor domain containing 6

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7381 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43615335-43630299 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43626093 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1355 (T1355A)

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: T1355A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000035338
Gene: ENSMUSG00000040140
AA Change: T1355A

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: T1355A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131277
Gene: ENSMUSG00000040140
AA Change: T1355A

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (88/90)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	T	11: 76,003,007	D70V	probably damaging	Het
4930550C14Rik	T	C	9: 53,411,822	Y53H	probably damaging	Het
Abca8a	A	T	11: 110,030,087		probably null	Het
Acads	C	A	5: 115,110,998	Q365H	probably damaging	Het
Acsm3	A	G	7: 119,780,826	D462G	probably damaging	Het
Adam39	T	A	8: 40,825,963	C464S	probably damaging	Het
Adgra3	A	G	5: 50,058,774	M1T	probably null	Het
AI182371	T	C	2: 35,085,359	Y276C	probably damaging	Het
Ank2	T	A	3: 126,936,628	H719L	possibly damaging	Het
Ano7	G	A	1: 93,395,335	V466I	probably benign	Het
Art5	A	G	7: 102,098,170	L134P	probably damaging	Het
Atcay	A	G	10: 81,210,597	Y298H	possibly damaging	Het
Atp1a4	A	T	1: 172,240,115	F527Y	possibly damaging	Het
Bpifb2	A	T	2: 153,892,348	M428L	probably benign	Het
Brinp2	A	C	1: 158,246,343	V736G	probably benign	Het
Cdc5l	C	T	17: 45,411,923	A437T	probably benign	Het
Cdx2	G	A	5: 147,306,630	P118L	possibly damaging	Het
Chpt1	G	A	10: 88,475,331		probably null	Het
Creb3l2	T	A	6: 37,335,848	E417V	probably damaging	Het
Csnk2a1	A	G	2: 152,258,694	T129A	probably benign	Het
Dennd6b	A	T	15: 89,186,173	L431Q	possibly damaging	Het
Dgkz	C	T	2: 91,944,835	A260T	probably benign	Het
Dhx34	T	A	7: 16,215,448	T352S	probably benign	Het
Elp4	C	T	2: 105,792,307	R349Q	not run	Het
Emsy	A	C	7: 98,590,803	F1228V	probably damaging	Het
Eps8l1	T	A	7: 4,470,438		probably null	Het
Faf1	T	A	4: 109,861,937	D413E	probably damaging	Het
Fam71e2	C	A	7: 4,757,682	R677L		Het
Fat3	T	C	9: 16,246,987	Y1109C	probably damaging	Het
Fbp1	T	C	13: 62,865,053	K314E	probably benign	Het
Fbxl20	A	G	11: 98,090,788	V358A	probably benign	Het
Fbxo34	C	G	14: 47,530,535	R502G	probably benign	Het
Fxr2	G	A	11: 69,642,049	C151Y	possibly damaging	Het
Gja8	T	C	3: 96,920,022	D108G	probably benign	Het
Gm10722	C	A	9: 3,001,235	L104I	probably benign	Het
Grsf1	A	G	5: 88,665,807	V361A	probably benign	Het
Gsap	T	A	5: 21,226,787	I228N	probably damaging	Het
Hagh	T	C	17: 24,856,712	I131T	probably damaging	Het
Heca	A	T	10: 17,915,524	Y261*	probably null	Het
Hipk3	A	G	2: 104,439,351	F498L	probably damaging	Het
Hps4	T	A	5: 112,375,458	I614N	possibly damaging	Het
Icam1	T	C	9: 21,027,590	S450P	probably benign	Het
Il22	G	A	10: 118,205,164	M58I	possibly damaging	Het
Khdrbs2	T	A	1: 32,333,802	S186T	not run	Het
Kif16b	A	G	2: 142,857,423	F79S	probably damaging	Het
Kntc1	C	A	5: 123,810,908	F1905L	probably benign	Het
Lrp1b	C	T	2: 40,802,917	G3423D		Het
Lrp5	G	T	19: 3,593,588	Q1346K	probably benign	Het
Map3k21	A	C	8: 125,944,978	T1002P	possibly damaging	Het
Mdga2	G	T	12: 66,568,896	R646S	probably benign	Het
Mex3b	G	T	7: 82,868,865	M129I	possibly damaging	Het
Mfsd10	G	T	5: 34,636,426	N85K	probably damaging	Het
Mios	A	G	6: 8,216,064	D420G	probably damaging	Het
Mogs	C	A	6: 83,115,632	P18T	unknown	Het
Mrgpre	A	G	7: 143,781,413	C118R	probably damaging	Het
Muc4	A	T	16: 32,780,915	H1321L		Het
Nkapl	T	C	13: 21,467,589	K285E	probably damaging	Het
Nphp4	C	T	4: 152,499,003	P200S	possibly damaging	Het
Piezo1	A	G	8: 122,501,658	F297L		Het
Pkhd1	T	G	1: 20,200,973	S3119R	probably damaging	Het
Pla2g15	G	A	8: 106,162,944	V283I	probably benign	Het
Ppp1r13l	T	A	7: 19,368,861		probably null	Het
Prex1	A	G	2: 166,587,127	Y849H	probably damaging	Het
Psg27	C	A	7: 18,567,083	W15L	probably benign	Het
Ptar1	A	T	19: 23,708,970		probably null	Het
Ptpn6	G	A	6: 124,728,172	R264C	probably damaging	Het
Ptprb	A	G	10: 116,341,133	I988V	probably benign	Het
Ptpro	G	A	6: 137,399,561	V680I	possibly damaging	Het
Rnf170	C	T	8: 26,123,848	P28S	probably benign	Het
Rnpepl1	A	G	1: 92,919,195	S580G	possibly damaging	Het
Rtel1	C	T	2: 181,330,815	R29*	probably null	Het
Rtkn	T	C	6: 83,151,745	L26P	probably damaging	Het
Sdk2	A	C	11: 113,838,489	S1087R	probably damaging	Het
Sema7a	C	T	9: 57,953,569	P71L	probably benign	Het
Sgpp1	C	T	12: 75,716,264	C381Y	probably damaging	Het
Sis	A	T	3: 72,913,292		probably null	Het
Slc24a5	A	C	2: 125,068,949	D100A	probably benign	Het
Slc25a23	A	T	17: 57,053,587	I251K	probably damaging	Het
Slc6a5	T	A	7: 49,930,056	L394H	probably damaging	Het
Slc7a4	A	T	16: 17,575,056	M293K	probably damaging	Het
Syne2	T	A	12: 75,926,489	S1089T	probably benign	Het
Tanc1	A	T	2: 59,785,326	T226S	probably damaging	Het
Tmem101	A	G	11: 102,153,350	M237T	possibly damaging	Het
Ttn	G	A	2: 76,919,015	H3897Y	possibly damaging	Het
Tubb4a	C	T	17: 57,080,698	V443M	unknown	Het
Ucp2	G	A	7: 100,498,369	R185H	possibly damaging	Het
Vmn1r116	G	T	7: 20,872,511	E86*	probably null	Het
Vmn2r37	T	C	7: 9,210,033	E530G	probably benign	Het
Vwa8	A	G	14: 79,095,685	T1293A	probably benign	Het
Zfc3h1	T	A	10: 115,424,630	Y1711N	probably benign	Het
Zfp873	A	T	10: 82,060,971	E512V	probably damaging	Het
Zfyve16	T	A	13: 92,521,146	K752N	probably damaging	Het
Zhx1	T	C	15: 58,053,165	N562D	possibly damaging	Het

Other mutations in Tdrd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Tdrd6	APN	17	43628160	missense	probably damaging	0.96
IGL00844:Tdrd6	APN	17	43617196	missense	probably benign
IGL00845:Tdrd6	APN	17	43626716	missense	probably benign	0.06
IGL01558:Tdrd6	APN	17	43625768	missense	probably damaging	1.00
IGL01558:Tdrd6	APN	17	43624766	missense	probably benign	0.02
IGL01575:Tdrd6	APN	17	43627980	missense	probably benign	0.00
IGL01812:Tdrd6	APN	17	43625174	missense	probably benign	0.10
IGL02013:Tdrd6	APN	17	43625946	missense	probably benign	0.00
IGL02067:Tdrd6	APN	17	43628209	missense	probably damaging	1.00
IGL02112:Tdrd6	APN	17	43629351	missense	probably damaging	1.00
IGL02159:Tdrd6	APN	17	43628390	missense	probably damaging	1.00
IGL02226:Tdrd6	APN	17	43627202	missense	probably damaging	1.00
IGL02416:Tdrd6	APN	17	43624738	missense	probably benign	0.39
IGL02577:Tdrd6	APN	17	43626837	missense	probably damaging	0.99
IGL02631:Tdrd6	APN	17	43626219	missense	probably damaging	1.00
IGL02738:Tdrd6	APN	17	43620446	missense	probably benign	0.06
IGL02792:Tdrd6	APN	17	43625027	missense	probably benign
IGL02929:Tdrd6	APN	17	43629713	missense	possibly damaging	0.61
IGL02934:Tdrd6	APN	17	43627887	missense	probably benign	0.42
IGL02954:Tdrd6	APN	17	43627262	missense	possibly damaging	0.82
IGL02969:Tdrd6	APN	17	43627549	missense	probably damaging	0.98
IGL03006:Tdrd6	APN	17	43625432	missense	probably damaging	1.00
IGL03155:Tdrd6	APN	17	43625507	missense	probably damaging	1.00
IGL03219:Tdrd6	APN	17	43627964	missense	probably benign	0.04
IGL03372:Tdrd6	APN	17	43625568	missense	probably damaging	1.00
Edward	UTSW	17	43627215	missense	probably damaging	1.00
eliza	UTSW	17	43628162	missense	possibly damaging	0.90
Elizabeth	UTSW	17	43624204	missense	probably benign	0.00
henry	UTSW	17	43628159	missense	probably damaging	0.99
BB001:Tdrd6	UTSW	17	43627806	missense	possibly damaging	0.94
BB011:Tdrd6	UTSW	17	43627806	missense	possibly damaging	0.94
G1citation:Tdrd6	UTSW	17	43627215	missense	probably damaging	1.00
R0030:Tdrd6	UTSW	17	43626591	missense	possibly damaging	0.80
R0057:Tdrd6	UTSW	17	43617161	splice site	probably benign
R0090:Tdrd6	UTSW	17	43628241	missense	probably benign	0.00
R0270:Tdrd6	UTSW	17	43624308	missense	probably benign
R0463:Tdrd6	UTSW	17	43625561	missense	probably damaging	1.00
R0594:Tdrd6	UTSW	17	43629383	missense	probably damaging	1.00
R0650:Tdrd6	UTSW	17	43628159	missense	probably damaging	0.99
R1226:Tdrd6	UTSW	17	43626632	missense	possibly damaging	0.63
R1309:Tdrd6	UTSW	17	43626621	missense	probably benign
R1483:Tdrd6	UTSW	17	43627607	missense	probably benign	0.31
R1561:Tdrd6	UTSW	17	43625624	missense	probably damaging	0.96
R1574:Tdrd6	UTSW	17	43625624	missense	probably damaging	0.96
R1647:Tdrd6	UTSW	17	43627109	missense	possibly damaging	0.49
R1648:Tdrd6	UTSW	17	43627109	missense	possibly damaging	0.49
R1723:Tdrd6	UTSW	17	43628327	missense	possibly damaging	0.94
R1786:Tdrd6	UTSW	17	43624833	missense	probably benign	0.01
R1819:Tdrd6	UTSW	17	43626551	missense	probably benign	0.00
R1836:Tdrd6	UTSW	17	43625589	missense	probably benign	0.03
R1892:Tdrd6	UTSW	17	43624805	missense	probably benign	0.00
R1911:Tdrd6	UTSW	17	43627088	missense	probably benign	0.21
R1936:Tdrd6	UTSW	17	43626467	missense	probably damaging	0.98
R2005:Tdrd6	UTSW	17	43628655	missense	probably damaging	1.00
R2006:Tdrd6	UTSW	17	43628655	missense	probably damaging	1.00
R2132:Tdrd6	UTSW	17	43624833	missense	probably benign	0.01
R2133:Tdrd6	UTSW	17	43624833	missense	probably benign	0.01
R3010:Tdrd6	UTSW	17	43628042	missense	probably benign	0.00
R4225:Tdrd6	UTSW	17	43625973	missense	probably damaging	1.00
R4448:Tdrd6	UTSW	17	43629735	missense	probably benign	0.26
R4449:Tdrd6	UTSW	17	43629735	missense	probably benign	0.26
R4531:Tdrd6	UTSW	17	43628754	missense	probably damaging	0.98
R4624:Tdrd6	UTSW	17	43625990	missense	probably damaging	0.99
R4665:Tdrd6	UTSW	17	43624116	missense	probably benign
R4676:Tdrd6	UTSW	17	43627610	missense	probably damaging	0.96
R4785:Tdrd6	UTSW	17	43625576	missense	probably damaging	1.00
R4912:Tdrd6	UTSW	17	43624327	missense	probably benign	0.34
R5134:Tdrd6	UTSW	17	43626210	missense	probably damaging	1.00
R5145:Tdrd6	UTSW	17	43626075	missense	probably damaging	0.96
R5623:Tdrd6	UTSW	17	43629333	missense	probably damaging	1.00
R5712:Tdrd6	UTSW	17	43626408	missense	probably damaging	1.00
R5897:Tdrd6	UTSW	17	43624877	missense	probably damaging	0.98
R5913:Tdrd6	UTSW	17	43628411	missense	possibly damaging	0.73
R6142:Tdrd6	UTSW	17	43629482	missense	probably benign	0.01
R6181:Tdrd6	UTSW	17	43628897	missense	probably damaging	1.00
R6195:Tdrd6	UTSW	17	43629752	missense	probably damaging	1.00
R6233:Tdrd6	UTSW	17	43629752	missense	probably damaging	1.00
R6289:Tdrd6	UTSW	17	43624520	missense	probably benign	0.01
R6315:Tdrd6	UTSW	17	43626338	missense	probably benign	0.02
R6578:Tdrd6	UTSW	17	43628961	missense	possibly damaging	0.65
R6645:Tdrd6	UTSW	17	43624532	missense	probably benign	0.10
R6822:Tdrd6	UTSW	17	43627215	missense	probably damaging	1.00
R7000:Tdrd6	UTSW	17	43627708	missense	probably benign	0.28
R7075:Tdrd6	UTSW	17	43625174	missense	probably benign	0.10
R7107:Tdrd6	UTSW	17	43624204	missense	probably benign	0.00
R7458:Tdrd6	UTSW	17	43625046	missense	probably benign	0.02
R7461:Tdrd6	UTSW	17	43627926	missense	probably benign	0.00
R7505:Tdrd6	UTSW	17	43627679	missense	not run
R7583:Tdrd6	UTSW	17	43624238	missense	probably benign	0.29
R7613:Tdrd6	UTSW	17	43627926	missense	probably benign	0.00
R7723:Tdrd6	UTSW	17	43625960	missense	probably benign	0.09
R7759:Tdrd6	UTSW	17	43624839	missense	probably benign	0.00
R7924:Tdrd6	UTSW	17	43627806	missense	possibly damaging	0.94
R8002:Tdrd6	UTSW	17	43629819	missense	probably damaging	0.98
R8134:Tdrd6	UTSW	17	43626173	missense	probably damaging	0.99
R8231:Tdrd6	UTSW	17	43622135	missense	probably damaging	1.00
R8242:Tdrd6	UTSW	17	43628930	missense	probably damaging	1.00
R8542:Tdrd6	UTSW	17	43624892	missense	probably damaging	1.00
R8713:Tdrd6	UTSW	17	43625019	missense	probably benign	0.28
R9100:Tdrd6	UTSW	17	43625414	missense	possibly damaging	0.76
R9201:Tdrd6	UTSW	17	43625670	missense	probably benign	0.00
R9222:Tdrd6	UTSW	17	43628340	missense	probably damaging	1.00
R9369:Tdrd6	UTSW	17	43625326	missense	probably damaging	1.00
R9373:Tdrd6	UTSW	17	43628162	missense	possibly damaging	0.90
R9384:Tdrd6	UTSW	17	43626892	missense	probably benign	0.26
R9448:Tdrd6	UTSW	17	43625676	missense	probably benign
R9534:Tdrd6	UTSW	17	43625619	missense	probably benign	0.19
R9613:Tdrd6	UTSW	17	43628627	missense	probably damaging	0.99
X0065:Tdrd6	UTSW	17	43625153	missense	possibly damaging	0.80
X0065:Tdrd6	UTSW	17	43625993	missense	probably damaging	0.99
Z1088:Tdrd6	UTSW	17	43626518	missense	probably benign	0.23
Z1177:Tdrd6	UTSW	17	43627187	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCCGACCGGTTCTGTTAG -3'
(R):5'- AAACTAGACTCTGCTCTTCCTGAG -3'

Sequencing Primer
(F):5'- GTGTGAACCACAGACATGTTGCC -3'
(R):5'- AGAGATCTGCCTCCCAAGTTTTG -3'

Posted On

2019-09-13