Mutagenetix > Incidental Mutations

Incidental Mutation 'R4665:Tdrd6'

351868

Institutional Source

Beutler Lab

Gene Symbol

Tdrd6

Ensembl Gene

ENSMUSG00000040140

Gene Name

tudor domain containing 6

Synonyms

MMRRC Submission

041923-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4665 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43615335-43630299 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43624116 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 2014 (M2014L)

Ref Sequence

ENSEMBL: ENSMUSP00000131277 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000045717
AA Change: M2014L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035338
Gene: ENSMUSG00000040140
AA Change: M2014L

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

noncoding transcript
Transcript: ENSMUST00000162232

Predicted Effect

probably benign
Transcript: ENSMUST00000168073
AA Change: M2014L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131277
Gene: ENSMUSG00000040140
AA Change: M2014L

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (89/90)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,925,077	M76K	probably null	Het
Abcc4	A	G	14: 118,529,002	I886T	probably benign	Het
Adam6a	T	C	12: 113,544,372	Y122H	possibly damaging	Het
Adgre1	A	G	17: 57,480,947	T905A	probably benign	Het
Arap2	A	G	5: 62,669,969	F969L	possibly damaging	Het
Arhgef4	G	T	1: 34,806,032	G1439V	possibly damaging	Het
Atm	A	G	9: 53,464,229	W2097R	probably benign	Het
Atmin	A	G	8: 116,957,959	D786G	probably damaging	Het
AU016765	T	A	17: 64,519,921		noncoding transcript	Het
Capn1	A	T	19: 6,011,015	N253K	probably benign	Het
Cdc42bpa	A	G	1: 180,144,565	T527A	probably damaging	Het
Chmp7	A	T	14: 69,720,955	V255D	probably damaging	Het
Cldn12	A	G	5: 5,508,385	F14S	probably damaging	Het
Cpsf2	T	C	12: 101,983,207	S61P	probably damaging	Het
Cpvl	C	T	6: 53,931,933	E282K	probably benign	Het
Crygn	T	A	5: 24,751,021		probably benign	Het
Csde1	C	T	3: 103,047,072	T386M	probably damaging	Het
Cux1	G	A	5: 136,286,799	T1129I	probably damaging	Het
Dcaf10	G	A	4: 45,372,769	R394Q	possibly damaging	Het
Dhx16	T	C	17: 35,879,943	V11A	probably damaging	Het
Dnah10	T	C	5: 124,828,472	M4060T	possibly damaging	Het
Duox1	C	T	2: 122,319,475	P116S	probably benign	Het
Eif5b	A	G	1: 38,045,712	E880G	probably damaging	Het
Eml6	A	T	11: 29,819,007	Y67*	probably null	Het
Faim2	C	A	15: 99,524,700		probably null	Het
Faim2	T	G	15: 99,524,701	S72R	probably benign	Het
Fam103a1	C	T	7: 81,768,430	R78W	probably damaging	Het
Fam160a1	A	T	3: 85,730,681	W104R	probably damaging	Het
Fanca	T	C	8: 123,268,972	T1364A	probably damaging	Het
Gak	A	G	5: 108,582,960	I860T	probably benign	Het
Garem2	C	A	5: 30,114,667	R376S	probably damaging	Het
Gdf2	A	G	14: 33,945,451	T377A	probably damaging	Het
Gm2431	A	T	7: 142,257,703	C155S	unknown	Het
Gm37596	G	A	3: 93,692,469	H198Y	probably damaging	Het
Gm5814	A	G	17: 47,410,363	M1V	probably null	Het
Gm5901	C	G	7: 105,377,231	Q69E	possibly damaging	Het
Gm9945	A	G	11: 53,480,375		probably benign	Het
Gmps	T	C	3: 64,001,535	V486A	probably benign	Het
Gtf2ird1	T	A	5: 134,383,902	E55V	probably damaging	Het
Hoxa11	T	A	6: 52,243,503	N267Y	probably damaging	Het
Ifngr2	C	A	16: 91,560,038	H153Q	possibly damaging	Het
Ift172	G	T	5: 31,285,254	Q190K	possibly damaging	Het
Iqch	A	G	9: 63,445,571	V899A	probably damaging	Het
Lactb2	T	C	1: 13,647,400	E133G	probably damaging	Het
Lig3	G	A	11: 82,800,250	V110M	probably damaging	Het
Lin54	C	A	5: 100,453,084	Q262H	possibly damaging	Het
Lingo3	G	A	10: 80,835,538	T186I	probably damaging	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,318,408		probably benign	Het
Ly86	T	A	13: 37,375,034	F70I	probably damaging	Het
Mospd2	A	T	X: 164,947,333	S301T	probably benign	Het
Mroh2a	A	C	1: 88,241,618	I672L	probably benign	Het
Myo15	A	T	11: 60,504,879		probably null	Het
Nme8	C	G	13: 19,674,435	A78P	probably damaging	Het
Obscn	C	T	11: 59,124,752	V965M	probably damaging	Het
Olfr1122	T	A	2: 87,387,876	I57K	probably damaging	Het
Parn	T	C	16: 13,541,103	K592E	probably benign	Het
Pax6	C	A	2: 105,683,998		probably benign	Het
Pdcd6	A	T	13: 74,317,206	M1K	probably null	Het
Pex11b	T	C	3: 96,643,835	L198P	possibly damaging	Het
Phldb3	C	T	7: 24,611,427	A28V	probably benign	Het
Pkn3	C	A	2: 30,085,457		probably benign	Het
Pknox1	T	C	17: 31,595,326		probably null	Het
Ptprg	A	C	14: 12,215,288	I1092L	possibly damaging	Het
Pxylp1	A	C	9: 96,825,285	I281M	probably damaging	Het
Retreg2	G	T	1: 75,144,666	L195F	probably damaging	Het
Rgs20	G	C	1: 5,021,008	F66L	probably benign	Het
Ripk4	C	T	16: 97,755,073	V157I	probably damaging	Het
Ryr2	T	C	13: 11,750,685		probably null	Het
Scaper	A	T	9: 55,912,055	S125R	probably damaging	Het
Sec16a	C	T	2: 26,412,958		probably benign	Het
Slc35f6	T	C	5: 30,655,613	L37P	probably damaging	Het
Slc6a12	T	A	6: 121,359,013		probably benign	Het
Slc9a5	A	G	8: 105,368,128	K784E	probably damaging	Het
Snd1	T	C	6: 28,707,054	V455A	probably damaging	Het
Ssbp2	A	T	13: 91,539,335	I46L	possibly damaging	Het
Stil	A	G	4: 115,041,644	D1157G	probably benign	Het
Tax1bp1	T	A	6: 52,737,131	C271S	probably benign	Het
Thsd7a	T	A	6: 12,337,314	T1235S	possibly damaging	Het
Thsd7a	T	A	6: 12,504,013	I381F	possibly damaging	Het
Tmprss11d	T	C	5: 86,309,401	D133G	probably damaging	Het
Tpr	C	T	1: 150,444,399	R2233W	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Vgll1	A	G	X: 57,092,432	R54G	possibly damaging	Het
Wdr72	A	G	9: 74,210,024	T673A	probably benign	Het
Zfp169	C	T	13: 48,490,863		probably benign	Het
Zfp319	G	A	8: 95,325,573		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
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
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
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
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'- GCCAAGTCTGCTCTAGAGAG -3'
(R):5'- TTCTGATGATGACCACAGCAGG -3'

Sequencing Primer
(F):5'- GCTTTCCTTCTAAAACCAAAACAAG -3'
(R):5'- ACAGCAGGTCTCCCCTC -3'

Posted On

2015-10-08