Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02792:Tdrd6'

359785

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 #

IGL02792

Quality Score

Status

Chromosome

Chromosomal Location

43926226-43941190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 43935918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 1710 (D1710A)

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: D1710A

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

SMART Domains

Protein: ENSMUSP00000035338
Gene: ENSMUSG00000040140
AA Change: D1710A

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: D1710A

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

SMART Domains

Protein: ENSMUSP00000131277
Gene: ENSMUSG00000040140
AA Change: D1710A

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	A	17: 48,401,107 (GRCm39)	V131M	probably benign	Het
Abca6	A	T	11: 110,079,507 (GRCm39)	C1216S	probably damaging	Het
Acly	T	C	11: 100,369,236 (GRCm39)	K1018E	probably damaging	Het
Acsl5	G	A	19: 55,282,163 (GRCm39)		probably null	Het
Adgrb1	C	A	15: 74,419,471 (GRCm39)	L771I	probably damaging	Het
Adh7	A	T	3: 137,929,498 (GRCm39)	K89I	probably damaging	Het
Adora2b	A	T	11: 62,156,309 (GRCm39)	I253F	possibly damaging	Het
Akna	G	A	4: 63,295,943 (GRCm39)	P975S	possibly damaging	Het
Alg9	T	C	9: 50,754,048 (GRCm39)	L576P	possibly damaging	Het
Arhgap20	A	G	9: 51,761,218 (GRCm39)	E1023G	possibly damaging	Het
Astn2	A	T	4: 65,563,058 (GRCm39)	S908T	probably benign	Het
Atp1a4	C	T	1: 172,054,866 (GRCm39)		probably null	Het
Cabin1	T	C	10: 75,582,573 (GRCm39)	Y281C	probably damaging	Het
Cdc42bpb	G	T	12: 111,265,995 (GRCm39)	F1312L	probably benign	Het
Cfap65	A	C	1: 74,966,337 (GRCm39)	F330C	probably damaging	Het
Col27a1	C	T	4: 63,233,820 (GRCm39)	P689S	unknown	Het
Col4a3	A	T	1: 82,696,524 (GRCm39)	K1643N	probably damaging	Het
Dop1b	T	A	16: 93,598,460 (GRCm39)	V1875D	possibly damaging	Het
Eftud2	A	G	11: 102,761,082 (GRCm39)		probably benign	Het
Ergic3	C	A	2: 155,859,770 (GRCm39)	T357K	probably damaging	Het
Glra1	A	T	11: 55,427,226 (GRCm39)	D36E	probably damaging	Het
Gpatch1	A	G	7: 35,001,018 (GRCm39)	Y330H	probably damaging	Het
Hmcn2	T	C	2: 31,236,602 (GRCm39)	S382P	probably damaging	Het
Kat6a	G	A	8: 23,428,316 (GRCm39)	E1224K	probably damaging	Het
Klk13	A	G	7: 43,370,838 (GRCm39)	E29G	possibly damaging	Het
Klra9	T	C	6: 130,165,643 (GRCm39)	D124G	probably benign	Het
Lrmda	T	C	14: 22,069,978 (GRCm39)		probably null	Het
Ltbp1	G	A	17: 75,589,989 (GRCm39)	V539M	probably damaging	Het
Ngfr	A	C	11: 95,462,687 (GRCm39)	L317R	probably damaging	Het
Nlrp6	C	A	7: 140,502,348 (GRCm39)	H151Q	probably damaging	Het
Nnt	A	G	13: 119,494,182 (GRCm39)	L633P	probably damaging	Het
Nxpe3	C	T	16: 55,686,535 (GRCm39)	V158M	probably damaging	Het
Or11i1	T	C	3: 106,729,456 (GRCm39)	T140A	probably damaging	Het
Or2d36	T	C	7: 106,747,425 (GRCm39)	F301L	probably benign	Het
Or7g16	C	T	9: 18,727,254 (GRCm39)	S112N	probably benign	Het
Pla2g4f	T	C	2: 120,133,850 (GRCm39)	Y517C	probably damaging	Het
Poc1a	A	T	9: 106,172,393 (GRCm39)	I207F	possibly damaging	Het
Polr2a	A	G	11: 69,636,938 (GRCm39)	S338P	probably damaging	Het
Ptprz1	T	C	6: 22,959,722 (GRCm39)	V73A	probably damaging	Het
Relb	A	T	7: 19,347,789 (GRCm39)	L281Q	probably damaging	Het
Rrp8	A	T	7: 105,383,018 (GRCm39)	L382*	probably null	Het
Setd1a	C	T	7: 127,390,522 (GRCm39)	S523F	unknown	Het
Slamf8	A	G	1: 172,415,697 (GRCm39)	I47T	probably damaging	Het
Slc16a4	G	A	3: 107,206,193 (GRCm39)	A88T	probably benign	Het
Sox6	C	T	7: 115,140,884 (GRCm39)	M532I	probably benign	Het
Tcp11l1	T	A	2: 104,512,165 (GRCm39)	Y489F	probably benign	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Vangl1	A	T	3: 102,070,739 (GRCm39)	I399N	probably damaging	Het
Vmn1r201	T	C	13: 22,659,014 (GRCm39)	L76P	probably damaging	Het
Vmn1r58	T	C	7: 5,414,228 (GRCm39)	M1V	probably null	Het
Wdfy4	T	C	14: 32,817,262 (GRCm39)	I1561V	probably benign	Het
Xkr9	A	G	1: 13,771,027 (GRCm39)	D181G	probably damaging	Het
Zfp318	T	C	17: 46,720,104 (GRCm39)	F1101L	probably damaging	Het
Zfpm2	C	A	15: 40,966,409 (GRCm39)	Q833K	probably benign	Het

Other mutations in Tdrd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Tdrd6	APN	17	43,939,051 (GRCm39)	missense	probably damaging	0.96
IGL00844:Tdrd6	APN	17	43,928,087 (GRCm39)	missense	probably benign
IGL00845:Tdrd6	APN	17	43,937,607 (GRCm39)	missense	probably benign	0.06
IGL01558:Tdrd6	APN	17	43,936,659 (GRCm39)	missense	probably damaging	1.00
IGL01558:Tdrd6	APN	17	43,935,657 (GRCm39)	missense	probably benign	0.02
IGL01575:Tdrd6	APN	17	43,938,871 (GRCm39)	missense	probably benign	0.00
IGL01812:Tdrd6	APN	17	43,936,065 (GRCm39)	missense	probably benign	0.10
IGL02013:Tdrd6	APN	17	43,936,837 (GRCm39)	missense	probably benign	0.00
IGL02067:Tdrd6	APN	17	43,939,100 (GRCm39)	missense	probably damaging	1.00
IGL02112:Tdrd6	APN	17	43,940,242 (GRCm39)	missense	probably damaging	1.00
IGL02159:Tdrd6	APN	17	43,939,281 (GRCm39)	missense	probably damaging	1.00
IGL02226:Tdrd6	APN	17	43,938,093 (GRCm39)	missense	probably damaging	1.00
IGL02416:Tdrd6	APN	17	43,935,629 (GRCm39)	missense	probably benign	0.39
IGL02577:Tdrd6	APN	17	43,937,728 (GRCm39)	missense	probably damaging	0.99
IGL02631:Tdrd6	APN	17	43,937,110 (GRCm39)	missense	probably damaging	1.00
IGL02738:Tdrd6	APN	17	43,931,337 (GRCm39)	missense	probably benign	0.06
IGL02929:Tdrd6	APN	17	43,940,604 (GRCm39)	missense	possibly damaging	0.61
IGL02934:Tdrd6	APN	17	43,938,778 (GRCm39)	missense	probably benign	0.42
IGL02954:Tdrd6	APN	17	43,938,153 (GRCm39)	missense	possibly damaging	0.82
IGL02969:Tdrd6	APN	17	43,938,440 (GRCm39)	missense	probably damaging	0.98
IGL03006:Tdrd6	APN	17	43,936,323 (GRCm39)	missense	probably damaging	1.00
IGL03155:Tdrd6	APN	17	43,936,398 (GRCm39)	missense	probably damaging	1.00
IGL03219:Tdrd6	APN	17	43,938,855 (GRCm39)	missense	probably benign	0.04
IGL03372:Tdrd6	APN	17	43,936,459 (GRCm39)	missense	probably damaging	1.00
Edward	UTSW	17	43,938,106 (GRCm39)	missense	probably damaging	1.00
eliza	UTSW	17	43,939,053 (GRCm39)	missense	possibly damaging	0.90
Elizabeth	UTSW	17	43,935,095 (GRCm39)	missense	probably benign	0.00
henry	UTSW	17	43,939,050 (GRCm39)	missense	probably damaging	0.99
BB001:Tdrd6	UTSW	17	43,938,697 (GRCm39)	missense	possibly damaging	0.94
BB011:Tdrd6	UTSW	17	43,938,697 (GRCm39)	missense	possibly damaging	0.94
G1citation:Tdrd6	UTSW	17	43,938,106 (GRCm39)	missense	probably damaging	1.00
R0030:Tdrd6	UTSW	17	43,937,482 (GRCm39)	missense	possibly damaging	0.80
R0057:Tdrd6	UTSW	17	43,928,052 (GRCm39)	splice site	probably benign
R0090:Tdrd6	UTSW	17	43,939,132 (GRCm39)	missense	probably benign	0.00
R0270:Tdrd6	UTSW	17	43,935,199 (GRCm39)	missense	probably benign
R0463:Tdrd6	UTSW	17	43,936,452 (GRCm39)	missense	probably damaging	1.00
R0594:Tdrd6	UTSW	17	43,940,274 (GRCm39)	missense	probably damaging	1.00
R0650:Tdrd6	UTSW	17	43,939,050 (GRCm39)	missense	probably damaging	0.99
R1226:Tdrd6	UTSW	17	43,937,523 (GRCm39)	missense	possibly damaging	0.63
R1309:Tdrd6	UTSW	17	43,937,512 (GRCm39)	missense	probably benign
R1483:Tdrd6	UTSW	17	43,938,498 (GRCm39)	missense	probably benign	0.31
R1561:Tdrd6	UTSW	17	43,936,515 (GRCm39)	missense	probably damaging	0.96
R1574:Tdrd6	UTSW	17	43,936,515 (GRCm39)	missense	probably damaging	0.96
R1647:Tdrd6	UTSW	17	43,938,000 (GRCm39)	missense	possibly damaging	0.49
R1648:Tdrd6	UTSW	17	43,938,000 (GRCm39)	missense	possibly damaging	0.49
R1723:Tdrd6	UTSW	17	43,939,218 (GRCm39)	missense	possibly damaging	0.94
R1786:Tdrd6	UTSW	17	43,935,724 (GRCm39)	missense	probably benign	0.01
R1819:Tdrd6	UTSW	17	43,937,442 (GRCm39)	missense	probably benign	0.00
R1836:Tdrd6	UTSW	17	43,936,480 (GRCm39)	missense	probably benign	0.03
R1892:Tdrd6	UTSW	17	43,935,696 (GRCm39)	missense	probably benign	0.00
R1911:Tdrd6	UTSW	17	43,937,979 (GRCm39)	missense	probably benign	0.21
R1936:Tdrd6	UTSW	17	43,937,358 (GRCm39)	missense	probably damaging	0.98
R2005:Tdrd6	UTSW	17	43,939,546 (GRCm39)	missense	probably damaging	1.00
R2006:Tdrd6	UTSW	17	43,939,546 (GRCm39)	missense	probably damaging	1.00
R2132:Tdrd6	UTSW	17	43,935,724 (GRCm39)	missense	probably benign	0.01
R2133:Tdrd6	UTSW	17	43,935,724 (GRCm39)	missense	probably benign	0.01
R3010:Tdrd6	UTSW	17	43,938,933 (GRCm39)	missense	probably benign	0.00
R4225:Tdrd6	UTSW	17	43,936,864 (GRCm39)	missense	probably damaging	1.00
R4448:Tdrd6	UTSW	17	43,940,626 (GRCm39)	missense	probably benign	0.26
R4449:Tdrd6	UTSW	17	43,940,626 (GRCm39)	missense	probably benign	0.26
R4531:Tdrd6	UTSW	17	43,939,645 (GRCm39)	missense	probably damaging	0.98
R4624:Tdrd6	UTSW	17	43,936,881 (GRCm39)	missense	probably damaging	0.99
R4665:Tdrd6	UTSW	17	43,935,007 (GRCm39)	missense	probably benign
R4676:Tdrd6	UTSW	17	43,938,501 (GRCm39)	missense	probably damaging	0.96
R4785:Tdrd6	UTSW	17	43,936,467 (GRCm39)	missense	probably damaging	1.00
R4912:Tdrd6	UTSW	17	43,935,218 (GRCm39)	missense	probably benign	0.34
R5134:Tdrd6	UTSW	17	43,937,101 (GRCm39)	missense	probably damaging	1.00
R5145:Tdrd6	UTSW	17	43,936,966 (GRCm39)	missense	probably damaging	0.96
R5623:Tdrd6	UTSW	17	43,940,224 (GRCm39)	missense	probably damaging	1.00
R5712:Tdrd6	UTSW	17	43,937,299 (GRCm39)	missense	probably damaging	1.00
R5897:Tdrd6	UTSW	17	43,935,768 (GRCm39)	missense	probably damaging	0.98
R5913:Tdrd6	UTSW	17	43,939,302 (GRCm39)	missense	possibly damaging	0.73
R6142:Tdrd6	UTSW	17	43,940,373 (GRCm39)	missense	probably benign	0.01
R6181:Tdrd6	UTSW	17	43,939,788 (GRCm39)	missense	probably damaging	1.00
R6195:Tdrd6	UTSW	17	43,940,643 (GRCm39)	missense	probably damaging	1.00
R6233:Tdrd6	UTSW	17	43,940,643 (GRCm39)	missense	probably damaging	1.00
R6289:Tdrd6	UTSW	17	43,935,411 (GRCm39)	missense	probably benign	0.01
R6315:Tdrd6	UTSW	17	43,937,229 (GRCm39)	missense	probably benign	0.02
R6578:Tdrd6	UTSW	17	43,939,852 (GRCm39)	missense	possibly damaging	0.65
R6645:Tdrd6	UTSW	17	43,935,423 (GRCm39)	missense	probably benign	0.10
R6822:Tdrd6	UTSW	17	43,938,106 (GRCm39)	missense	probably damaging	1.00
R7000:Tdrd6	UTSW	17	43,938,599 (GRCm39)	missense	probably benign	0.28
R7075:Tdrd6	UTSW	17	43,936,065 (GRCm39)	missense	probably benign	0.10
R7107:Tdrd6	UTSW	17	43,935,095 (GRCm39)	missense	probably benign	0.00
R7381:Tdrd6	UTSW	17	43,936,984 (GRCm39)	missense	probably benign	0.00
R7458:Tdrd6	UTSW	17	43,935,937 (GRCm39)	missense	probably benign	0.02
R7461:Tdrd6	UTSW	17	43,938,817 (GRCm39)	missense	probably benign	0.00
R7505:Tdrd6	UTSW	17	43,938,570 (GRCm39)	missense	not run
R7583:Tdrd6	UTSW	17	43,935,129 (GRCm39)	missense	probably benign	0.29
R7613:Tdrd6	UTSW	17	43,938,817 (GRCm39)	missense	probably benign	0.00
R7723:Tdrd6	UTSW	17	43,936,851 (GRCm39)	missense	probably benign	0.09
R7759:Tdrd6	UTSW	17	43,935,730 (GRCm39)	missense	probably benign	0.00
R7924:Tdrd6	UTSW	17	43,938,697 (GRCm39)	missense	possibly damaging	0.94
R8002:Tdrd6	UTSW	17	43,940,710 (GRCm39)	missense	probably damaging	0.98
R8134:Tdrd6	UTSW	17	43,937,064 (GRCm39)	missense	probably damaging	0.99
R8231:Tdrd6	UTSW	17	43,933,026 (GRCm39)	missense	probably damaging	1.00
R8242:Tdrd6	UTSW	17	43,939,821 (GRCm39)	missense	probably damaging	1.00
R8542:Tdrd6	UTSW	17	43,935,783 (GRCm39)	missense	probably damaging	1.00
R8713:Tdrd6	UTSW	17	43,935,910 (GRCm39)	missense	probably benign	0.28
R9100:Tdrd6	UTSW	17	43,936,305 (GRCm39)	missense	possibly damaging	0.76
R9201:Tdrd6	UTSW	17	43,936,561 (GRCm39)	missense	probably benign	0.00
R9222:Tdrd6	UTSW	17	43,939,231 (GRCm39)	missense	probably damaging	1.00
R9369:Tdrd6	UTSW	17	43,936,217 (GRCm39)	missense	probably damaging	1.00
R9373:Tdrd6	UTSW	17	43,939,053 (GRCm39)	missense	possibly damaging	0.90
R9384:Tdrd6	UTSW	17	43,937,783 (GRCm39)	missense	probably benign	0.26
R9448:Tdrd6	UTSW	17	43,936,567 (GRCm39)	missense	probably benign
R9534:Tdrd6	UTSW	17	43,936,510 (GRCm39)	missense	probably benign	0.19
R9613:Tdrd6	UTSW	17	43,939,518 (GRCm39)	missense	probably damaging	0.99
X0065:Tdrd6	UTSW	17	43,936,884 (GRCm39)	missense	probably damaging	0.99
X0065:Tdrd6	UTSW	17	43,936,044 (GRCm39)	missense	possibly damaging	0.80
Z1088:Tdrd6	UTSW	17	43,937,409 (GRCm39)	missense	probably benign	0.23
Z1177:Tdrd6	UTSW	17	43,938,078 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18