Mutagenetix > Incidental Mutation

Incidental Mutation 'R9373:Tdrd6'

709465

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 #

R9373 (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 43628162 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 665 (V665A)

Ref Sequence

ENSEMBL: ENSMUSP00000131277 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000045717
AA Change: V665A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035338
Gene: ENSMUSG00000040140
AA Change: V665A

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

possibly damaging
Transcript: ENSMUST00000168073
AA Change: V665A

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131277
Gene: ENSMUSG00000040140
AA Change: V665A

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

0.0674

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (53/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
2310003L06Rik	A	C	5: 87,972,809	D475A	probably benign	Het
3110043O21Rik	A	G	4: 35,196,985	F360S		Het
Aatk	T	C	11: 120,015,517	M243V	possibly damaging	Het
Acox1	A	T	11: 116,174,347	N627K	possibly damaging	Het
Adal	A	G	2: 121,150,222	Y142C	probably benign	Het
Agfg2	A	G	5: 137,664,214		probably null	Het
Ajap1	C	T	4: 153,432,213	A224T	probably benign	Het
Alg1	T	C	16: 5,239,126	F234L	probably benign	Het
Arhgap27	G	T	11: 103,360,461	A147E	possibly damaging	Het
Cachd1	T	C	4: 100,974,870	V743A	possibly damaging	Het
Cc2d2b	G	A	19: 40,795,723	V655I	unknown	Het
Cd72	T	C	4: 43,450,141	S256G	possibly damaging	Het
Celf2	G	T	2: 6,547,104	N521K	probably benign	Het
Clca4a	T	A	3: 144,966,372	N270Y	possibly damaging	Het
Clvs2	A	T	10: 33,528,386	V278E	probably benign	Het
Cwf19l2	T	C	9: 3,454,718	F677S	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
Dyx1c1	A	G	9: 72,964,180	T241A	probably damaging	Het
Epdr1	T	C	13: 19,594,537	N130D	possibly damaging	Het
Fam184a	G	A	10: 53,690,019	R491W	probably benign	Het
Fam71e2	T	C	7: 4,757,713	M667V		Het
Foxp2	A	G	6: 15,377,970	Q160R	unknown	Het
Fstl5	T	A	3: 76,648,362	Y515*	probably null	Het
Helz2	G	T	2: 181,240,948	N17K	probably benign	Het
Jmjd1c	C	T	10: 67,096,716		probably benign	Het
Jup	C	T	11: 100,379,565	C372Y	probably damaging	Het
Lrrn1	A	C	6: 107,568,504	Q421P	possibly damaging	Het
Mapk1	A	G	16: 17,018,290	I101V	probably benign	Het
Me2	T	C	18: 73,785,729	E427G	probably damaging	Het
Mrc1	G	A	2: 14,270,188	M433I	probably damaging	Het
Mrvi1	A	G	7: 110,945,831		probably null	Het
Nelfb	G	A	2: 25,205,206	R324W	probably damaging	Het
Nlrp4b	T	A	7: 10,715,199	I443K	probably benign	Het
Nup210l	C	T	3: 90,199,866	P1570L	probably benign	Het
Olfr1012	A	T	2: 85,759,931	Y148*	probably null	Het
Olfr1474	A	G	19: 13,471,852	E294G	probably damaging	Het
Olfr877	T	A	9: 37,855,454	V212D	probably damaging	Het
Olfr914	G	A	9: 38,606,846	C127Y	possibly damaging	Het
Parvb	C	T	15: 84,303,899	T281I	probably damaging	Het
Prune2	A	G	19: 17,122,138	T1669A	probably benign	Het
Runx3	A	G	4: 135,121,145	T14A	probably benign	Het
Scn9a	A	G	2: 66,483,917	V1819A	probably benign	Het
Senp1	T	C	15: 98,066,554	T260A	probably benign	Het
Serpinb10	A	G	1: 107,547,019	R304G	possibly damaging	Het
Spem1	C	T	11: 69,821,814	C65Y	probably benign	Het
Tenm2	C	T	11: 36,039,886	A1772T	probably damaging	Het
Tenm3	C	T	8: 48,299,655	V891I	probably damaging	Het
Trank1	A	G	9: 111,365,191	D761G	probably benign	Het
Ubap2l	A	T	3: 90,008,280	Y985N	unknown	Het
Vwc2l	A	T	1: 70,729,059	H94L	probably damaging	Het
Wdr27	G	A	17: 14,934,533	H41Y	probably benign	Het
Zcchc6	T	C	13: 59,796,867	S1053G	probably damaging	Het
Zfp7	AGTGCGGGAAAGGTTTCCACCTG	AG	15: 76,890,598		probably benign	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	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
R7381:Tdrd6	UTSW	17	43626093	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
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'- GTCCGCCAAAGCTTCTGAAAC -3'
(R):5'- GCTACCGATACTGGCTCTGAAG -3'

Sequencing Primer
(F):5'- CGCCAAAGCTTCTGAAACAGAGAG -3'
(R):5'- ATACTGGCTCTGAAGTGCAC -3'

Posted On

2022-04-18