Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02013:Tdrd6'

183423

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 #

IGL02013

Quality Score

Status

Chromosome

Chromosomal Location

43926226-43941190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43936837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1404 (T1404A)

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: T1404A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000035338
Gene: ENSMUSG00000040140
AA Change: T1404A

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: T1404A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000131277
Gene: ENSMUSG00000040140
AA Change: T1404A

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,773,698 (GRCm39)	Y543C	probably damaging	Het
Acp4	G	T	7: 43,904,505 (GRCm39)	T186N	probably benign	Het
Adgrg6	T	A	10: 14,302,555 (GRCm39)	M953L	probably damaging	Het
Cp	C	A	3: 20,042,213 (GRCm39)	H994N	probably damaging	Het
Csmd2	G	A	4: 128,215,116 (GRCm39)	D513N	possibly damaging	Het
Gm28557	A	G	13: 67,219,116 (GRCm39)	F248L	probably benign	Het
Nup155	G	T	15: 8,143,132 (GRCm39)	M100I	possibly damaging	Het
Odad2	A	G	18: 7,265,157 (GRCm39)		probably benign	Het
Or8b12b	A	G	9: 37,684,185 (GRCm39)	I77V	probably benign	Het
Or8c11	G	A	9: 38,289,373 (GRCm39)	M59I	probably benign	Het
Pgm1	G	A	4: 99,841,158 (GRCm39)		probably benign	Het
Reln	A	G	5: 22,155,877 (GRCm39)	F2205S	probably damaging	Het
Scmh1	G	A	4: 120,340,929 (GRCm39)	R205Q	possibly damaging	Het
Sema3e	G	A	5: 14,280,207 (GRCm39)	G362D	probably damaging	Het
Sftpb	C	T	6: 72,282,655 (GRCm39)	T79I	probably benign	Het
Sgcd	C	A	11: 46,871,770 (GRCm39)		probably benign	Het
Shprh	T	A	10: 11,057,246 (GRCm39)		probably benign	Het
Spmap2	T	C	10: 79,415,769 (GRCm39)		probably null	Het
Ssc5d	C	T	7: 4,946,835 (GRCm39)	S1063F	probably benign	Het
Vmn2r67	G	A	7: 84,800,863 (GRCm39)	P358S	probably benign	Het
Wnk2	A	T	13: 49,235,510 (GRCm39)	M635K	possibly damaging	Het
Zfp474	C	A	18: 52,771,971 (GRCm39)	A208D	possibly damaging	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
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
IGL02792:Tdrd6	APN	17	43,935,918 (GRCm39)	missense	probably benign
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

2014-05-07