Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02934:Tdrd6'

364211

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tdrd6

Ensembl Gene

ENSMUSG00000040140

Gene Name

tudor domain containing 6

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02934

Quality Score

Status

Chromosome

Chromosomal Location

43615335-43630299 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43627887 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 757 (N757D)

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: N757D

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000035338
Gene: ENSMUSG00000040140
AA Change: N757D

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: N757D

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131277
Gene: ENSMUSG00000040140
AA Change: N757D

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

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 122,162,359	R716*	probably null	Het
Abca8a	A	T	11: 110,040,588	N1246K	probably damaging	Het
Acadl	A	G	1: 66,836,975	Y396H	probably benign	Het
Apol7c	A	T	15: 77,526,118	S209R	possibly damaging	Het
Atp1a1	A	T	3: 101,576,992	C990*	probably null	Het
Cachd1	C	T	4: 100,968,098	S583L	probably damaging	Het
Cbfa2t3	T	C	8: 122,647,758	T48A	probably benign	Het
Ccdc138	G	T	10: 58,573,580		probably benign	Het
Cenpe	A	G	3: 135,264,351	E2231G	probably damaging	Het
Cog3	T	C	14: 75,741,689	I206V	probably damaging	Het
Cr2	A	G	1: 195,154,325		probably benign	Het
Ctdspl2	T	C	2: 121,979,009	V147A	probably damaging	Het
Cyp4f13	A	G	17: 32,929,871	V300A	probably damaging	Het
Dkk3	A	T	7: 112,150,747	M72K	probably damaging	Het
Dock3	A	T	9: 107,023,745	F340L	probably benign	Het
Fut1	A	G	7: 45,618,703	H27R	possibly damaging	Het
Igkv4-80	A	G	6: 69,016,856	V17A	probably benign	Het
Igkv9-123	G	A	6: 67,954,396	P62L	possibly damaging	Het
Kmt2e	T	C	5: 23,497,884	S1021P	probably damaging	Het
Krt13	A	C	11: 100,119,084	L320R	probably damaging	Het
Ldhal6b	T	C	17: 5,417,544	T372A	probably benign	Het
Manba	T	C	3: 135,544,749	V379A	probably benign	Het
Map1b	C	T	13: 99,435,131	V361I	probably benign	Het
Map4k1	A	G	7: 28,994,106	S399G	probably benign	Het
Mff	G	A	1: 82,747,094	R229H	probably damaging	Het
Naga	T	C	15: 82,330,200	N370S	possibly damaging	Het
Ncor2	A	T	5: 125,025,557	M2045K	probably benign	Het
Nipal1	T	C	5: 72,647,907	L7P	probably damaging	Het
Olfr9	T	A	10: 128,990,089	M59K	probably damaging	Het
Pcmt1	A	T	10: 7,640,727	M187K	probably benign	Het
Perp	A	T	10: 18,855,772	T160S	probably damaging	Het
Rapgef6	G	A	11: 54,625,864	D169N	probably damaging	Het
Sel1l	G	A	12: 91,809,936	Q711*	probably null	Het
Sept5	T	C	16: 18,629,831	Y7C	probably damaging	Het
Spdya	A	T	17: 71,556,400	N48I	probably benign	Het
Stard6	T	A	18: 70,496,104		probably benign	Het
Sytl2	T	C	7: 90,375,992	V396A	probably benign	Het
Tcaf3	T	G	6: 42,593,898	M307L	probably benign	Het
Tgm1	T	A	14: 55,709,989	D305V	probably damaging	Het
Themis2	T	A	4: 132,789,551	M213L	probably damaging	Het
Tmem184c	A	G	8: 77,597,820	V347A	probably damaging	Het
Tmem214	A	G	5: 30,871,544	E159G	probably benign	Het
Trim58	C	T	11: 58,640,466		probably benign	Het
Tshz1	A	T	18: 84,013,090	S1064R	probably damaging	Het
Ubr2	C	T	17: 46,957,340	E983K	possibly damaging	Het
Vmn1r23	A	T	6: 57,925,929	I288N	probably benign	Het
Vmn2r97	T	C	17: 18,929,685	V445A	probably benign	Het
Whrn	G	A	4: 63,416,105	T813M	probably damaging	Het
Xirp2	C	T	2: 67,515,676	H2754Y	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
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
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

Posted On

2015-12-18