Mutagenetix > Incidental Mutation

Incidental Mutation 'R8134:Tdrd6'

632197

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 #

R8134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43615335-43630299 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43626173 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1328 (I1328N)

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: I1328N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035338
Gene: ENSMUSG00000040140
AA Change: I1328N

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 damaging
Transcript: ENSMUST00000168073
AA Change: I1328N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131277
Gene: ENSMUSG00000040140
AA Change: I1328N

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.5%

Validation Efficiency

99% (71/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 79,699,353	P265L	probably benign	Het
Adam20	A	G	8: 40,796,064	T404A	probably benign	Het
Anp32a	G	T	9: 62,377,581	R237L	unknown	Het
Ascc3	A	G	10: 50,767,458	D1835G	probably benign	Het
Atg9b	A	G	5: 24,385,222		probably null	Het
Bard1	A	T	1: 71,067,138	N443K	probably damaging	Het
Btnl1	A	G	17: 34,385,673	D476G	possibly damaging	Het
C2cd3	A	T	7: 100,418,504	I487F		Het
Cadm4	A	G	7: 24,503,605	E384G	possibly damaging	Het
Camsap3	A	G	8: 3,598,075	K128E	probably benign	Het
Casz1	C	T	4: 148,943,035	P1005S	probably damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Cdk20	A	G	13: 64,437,920	E244G	probably benign	Het
Cfap54	A	T	10: 92,878,516	V2667D	unknown	Het
Col11a1	A	G	3: 114,218,786	K1792E	unknown	Het
Cpne9	A	T	6: 113,295,042	D377V	probably benign	Het
Csmd1	A	T	8: 15,932,550	C2706S	probably damaging	Het
Ctnnbl1	T	C	2: 157,809,471	V222A	probably benign	Het
Frmpd2	T	C	14: 33,505,495	S277P	probably benign	Het
Gm15922	A	G	7: 3,735,839	S590P	probably damaging	Het
Herc2	C	T	7: 56,085,136	T158I	probably benign	Het
Hoxa4	G	T	6: 52,190,557	H215N	possibly damaging	Het
Hpd	G	T	5: 123,174,380	Q309K	probably benign	Het
Il20ra	A	G	10: 19,750,704	T159A	probably damaging	Het
Ints10	T	A	8: 68,802,986	Y209*	probably null	Het
Ints2	A	G	11: 86,212,660	I1190T	probably damaging	Het
Jhy	A	G	9: 40,960,892	V107A	probably null	Het
Kdm4d	C	T	9: 14,463,236	R442H	probably damaging	Het
Kif1bp	T	C	10: 62,577,977	Y134C	probably benign	Het
Klb	A	T	5: 65,383,615	H1017L	probably benign	Het
Kndc1	T	A	7: 139,901,369		probably null	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Lrrn3	T	C	12: 41,453,048	I423M	probably damaging	Het
Magi2	T	G	5: 20,391,367	F274L	probably damaging	Het
Magi2	T	A	5: 20,391,394	D283E	probably benign	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Meis2	C	T	2: 115,866,888	M388I	probably benign	Het
Ms4a3	G	C	19: 11,638,249	H54Q	probably benign	Het
Nfe2l1	A	T	11: 96,819,759	M548K	possibly damaging	Het
Ninl	C	T	2: 150,950,314	C763Y	probably benign	Het
Numa1	T	C	7: 102,001,627	F1522L	probably benign	Het
Olfr1344	T	C	7: 6,438,923		probably benign	Het
Olfr539	T	A	7: 140,667,767	I153N	possibly damaging	Het
Pcdhgc3	G	A	18: 37,806,863	V106I	probably benign	Het
Phf3	A	G	1: 30,824,471	V152A	unknown	Het
Plcg2	A	T	8: 117,557,318	D118V	probably damaging	Het
Pnpla1	A	G	17: 28,878,469	D203G	probably damaging	Het
Ppip5k2	A	T	1: 97,745,163	M474K	probably benign	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rrs1	C	T	1: 9,545,420		probably benign	Het
Scaf11	T	C	15: 96,420,711	N324S	probably damaging	Het
Spaca1	T	A	4: 34,042,157		probably null	Het
Sun3	G	T	11: 9,029,346	D118E	probably benign	Het
Svop	C	T	5: 114,042,931	V215I	probably benign	Het
Tbc1d15	A	T	10: 115,209,569	C497S	probably damaging	Het
Tuba8	T	A	6: 121,221,422	D116E	probably benign	Het
Ube2z	A	G	11: 96,058,374	I213T	possibly damaging	Het
Ubqln4	G	A	3: 88,555,490		probably null	Het
Vps13a	A	G	19: 16,654,354	I2639T	possibly damaging	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zfp94	A	T	7: 24,303,741	V92E	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
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'- TGAACCACAGACATGTTGCC -3'
(R):5'- ATATTTGCCAGCTCACCCATG -3'

Sequencing Primer
(F):5'- GTTGCCATAATCGATAAACTGGACAG -3'
(R):5'- TGAGTGGCACCAAACTAGACTCTG -3'

Posted On

2020-06-30