Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01812:Tdrd6'

154286

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 #

IGL01812

Quality Score

Status

Chromosome

Chromosomal Location

43926226-43941190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43936065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1661 (V1661A)

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: V1661A

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000035338
Gene: ENSMUSG00000040140
AA Change: V1661A

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: V1661A

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000131277
Gene: ENSMUSG00000040140
AA Change: V1661A

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	A	G	7: 80,749,950 (GRCm39)	Y1456C	probably damaging	Het
Apobr	A	G	7: 126,187,094 (GRCm39)	D840G	probably damaging	Het
Arb2a	T	A	13: 77,909,966 (GRCm39)	L27*	probably null	Het
Cd300lf	T	C	11: 115,011,114 (GRCm39)	R175G	probably damaging	Het
Chil5	A	G	3: 105,924,468 (GRCm39)	S426P	possibly damaging	Het
Cngb3	T	G	4: 19,461,728 (GRCm39)	I536M	possibly damaging	Het
Cracdl	T	A	1: 37,664,446 (GRCm39)	D484V	probably benign	Het
Cyp4f15	G	A	17: 32,905,131 (GRCm39)	R38H	probably benign	Het
Ddb1	A	C	19: 10,590,382 (GRCm39)	E303A	probably damaging	Het
Dis3l	T	A	9: 64,217,519 (GRCm39)	E822V	probably benign	Het
Erich3	T	C	3: 154,419,608 (GRCm39)	V234A	possibly damaging	Het
Evi5l	T	C	8: 4,243,219 (GRCm39)		probably null	Het
Exoc4	T	C	6: 33,734,894 (GRCm39)		probably benign	Het
Ganc	A	G	2: 120,242,007 (GRCm39)	I62V	probably benign	Het
Itpkb	T	C	1: 180,247,851 (GRCm39)	F823S	probably damaging	Het
Izumo2	A	G	7: 44,358,519 (GRCm39)	N14S	possibly damaging	Het
Matcap1	C	T	8: 106,011,289 (GRCm39)		probably benign	Het
Nbas	T	C	12: 13,503,504 (GRCm39)	C1545R	probably damaging	Het
Or4c108	A	T	2: 88,803,868 (GRCm39)	Y122*	probably null	Het
Pds5b	A	T	5: 150,704,154 (GRCm39)	R852S	probably damaging	Het
Polh	G	A	17: 46,483,837 (GRCm39)	A476V	probably benign	Het
Prune2	T	A	19: 16,981,141 (GRCm39)	D99E	possibly damaging	Het
Tor1aip2	A	G	1: 155,935,285 (GRCm39)	S7G	probably benign	Het
Vps13a	A	G	19: 16,692,424 (GRCm39)	V830A	probably benign	Het
Vps39	G	A	2: 120,151,271 (GRCm39)		probably benign	Het
Zdhhc17	T	A	10: 110,784,078 (GRCm39)	H466L	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
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
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

2014-02-04