Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02416:Tdrd6'

292457

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 #

IGL02416

Quality Score

Status

Chromosome

Chromosomal Location

43615335-43630299 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43624738 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 1806 (R1806S)

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: R1806S

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035338
Gene: ENSMUSG00000040140
AA Change: R1806S

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: R1806S

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131277
Gene: ENSMUSG00000040140
AA Change: R1806S

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	C	14: 68,572,833 (GRCm38)	N227S	probably null	Het
Adgrf5	T	G	17: 43,444,980 (GRCm38)		probably null	Het
Arid2	G	A	15: 96,350,055 (GRCm38)	G116D	possibly damaging	Het
Arsa	T	A	15: 89,474,788 (GRCm38)	H225L	probably damaging	Het
Atf6	T	A	1: 170,747,157 (GRCm38)	K571*	probably null	Het
Bicdl1	A	C	5: 115,663,885 (GRCm38)	L38R	probably damaging	Het
Cct4	T	C	11: 23,002,868 (GRCm38)	S515P	probably damaging	Het
Celsr3	A	C	9: 108,832,119 (GRCm38)	D1388A	probably damaging	Het
Clca2	T	C	3: 145,085,016 (GRCm38)	T432A	probably benign	Het
Des	T	A	1: 75,362,728 (GRCm38)		probably null	Het
Dock11	T	A	X: 36,020,086 (GRCm38)	V1119E	probably damaging	Het
Dysf	A	G	6: 84,192,914 (GRCm38)	N1763S	possibly damaging	Het
Emilin1	A	G	5: 30,917,788 (GRCm38)	S458G	possibly damaging	Het
Fhdc1	T	G	3: 84,445,228 (GRCm38)	M897L	probably benign	Het
Foxj1	T	C	11: 116,332,003 (GRCm38)	S325G	probably benign	Het
Gm5407	A	G	16: 49,296,887 (GRCm38)		noncoding transcript	Het
Gm6576	T	C	15: 27,025,987 (GRCm38)		noncoding transcript	Het
Hells	G	A	19: 38,964,627 (GRCm38)	S743N	probably benign	Het
Ighv2-9-1	A	T	12: 113,770,111 (GRCm38)	L30Q	probably damaging	Het
Iqgap1	A	T	7: 80,726,038 (GRCm38)	L1363H	probably damaging	Het
Lrp2	T	C	2: 69,469,633 (GRCm38)	D3025G	probably damaging	Het
Mef2d	C	T	3: 88,156,502 (GRCm38)	R79C	probably damaging	Het
Mical1	G	T	10: 41,484,810 (GRCm38)		probably null	Het
Micu2	A	T	14: 57,923,965 (GRCm38)	V300E	probably damaging	Het
Mmgt2	T	C	11: 62,664,877 (GRCm38)	L17P	probably damaging	Het
Olfr1182	A	G	2: 88,446,830 (GRCm38)	I36T	probably benign	Het
Olfr371	T	A	8: 85,231,033 (GRCm38)	C179*	probably null	Het
Olfr873	A	T	9: 20,300,245 (GRCm38)	E15V	probably benign	Het
Pigb	A	G	9: 73,017,432 (GRCm38)	S482P	probably benign	Het
Pkd1l2	T	A	8: 117,040,835 (GRCm38)	T1239S	possibly damaging	Het
Pou1f1	T	C	16: 65,531,956 (GRCm38)	I187T	probably damaging	Het
Prox1	C	T	1: 190,161,130 (GRCm38)	A373T	probably benign	Het
Rabgap1	T	C	2: 37,561,950 (GRCm38)	I954T	probably benign	Het
Scube3	T	G	17: 28,164,136 (GRCm38)	C429W	probably damaging	Het
Slco6b1	T	A	1: 96,924,333 (GRCm38)		noncoding transcript	Het
Strc	A	T	2: 121,369,058 (GRCm38)	I1300N	probably damaging	Het
Trpm8	T	A	1: 88,360,716 (GRCm38)	L860Q	probably damaging	Het
Vmn1r8	A	G	6: 57,036,620 (GRCm38)	R219G	probably damaging	Het
Wdr48	A	G	9: 119,924,760 (GRCm38)	S649G	probably damaging	Het

Other mutations in Tdrd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Tdrd6	APN	17	43,628,160 (GRCm38)	missense	probably damaging	0.96
IGL00844:Tdrd6	APN	17	43,617,196 (GRCm38)	missense	probably benign
IGL00845:Tdrd6	APN	17	43,626,716 (GRCm38)	missense	probably benign	0.06
IGL01558:Tdrd6	APN	17	43,625,768 (GRCm38)	missense	probably damaging	1.00
IGL01558:Tdrd6	APN	17	43,624,766 (GRCm38)	missense	probably benign	0.02
IGL01575:Tdrd6	APN	17	43,627,980 (GRCm38)	missense	probably benign	0.00
IGL01812:Tdrd6	APN	17	43,625,174 (GRCm38)	missense	probably benign	0.10
IGL02013:Tdrd6	APN	17	43,625,946 (GRCm38)	missense	probably benign	0.00
IGL02067:Tdrd6	APN	17	43,628,209 (GRCm38)	missense	probably damaging	1.00
IGL02112:Tdrd6	APN	17	43,629,351 (GRCm38)	missense	probably damaging	1.00
IGL02159:Tdrd6	APN	17	43,628,390 (GRCm38)	missense	probably damaging	1.00
IGL02226:Tdrd6	APN	17	43,627,202 (GRCm38)	missense	probably damaging	1.00
IGL02577:Tdrd6	APN	17	43,626,837 (GRCm38)	missense	probably damaging	0.99
IGL02631:Tdrd6	APN	17	43,626,219 (GRCm38)	missense	probably damaging	1.00
IGL02738:Tdrd6	APN	17	43,620,446 (GRCm38)	missense	probably benign	0.06
IGL02792:Tdrd6	APN	17	43,625,027 (GRCm38)	missense	probably benign
IGL02929:Tdrd6	APN	17	43,629,713 (GRCm38)	missense	possibly damaging	0.61
IGL02934:Tdrd6	APN	17	43,627,887 (GRCm38)	missense	probably benign	0.42
IGL02954:Tdrd6	APN	17	43,627,262 (GRCm38)	missense	possibly damaging	0.82
IGL02969:Tdrd6	APN	17	43,627,549 (GRCm38)	missense	probably damaging	0.98
IGL03006:Tdrd6	APN	17	43,625,432 (GRCm38)	missense	probably damaging	1.00
IGL03155:Tdrd6	APN	17	43,625,507 (GRCm38)	missense	probably damaging	1.00
IGL03219:Tdrd6	APN	17	43,627,964 (GRCm38)	missense	probably benign	0.04
IGL03372:Tdrd6	APN	17	43,625,568 (GRCm38)	missense	probably damaging	1.00
Edward	UTSW	17	43,627,215 (GRCm38)	missense	probably damaging	1.00
eliza	UTSW	17	43,628,162 (GRCm38)	missense	possibly damaging	0.90
Elizabeth	UTSW	17	43,624,204 (GRCm38)	missense	probably benign	0.00
henry	UTSW	17	43,628,159 (GRCm38)	missense	probably damaging	0.99
BB001:Tdrd6	UTSW	17	43,627,806 (GRCm38)	missense	possibly damaging	0.94
BB011:Tdrd6	UTSW	17	43,627,806 (GRCm38)	missense	possibly damaging	0.94
G1citation:Tdrd6	UTSW	17	43,627,215 (GRCm38)	missense	probably damaging	1.00
R0030:Tdrd6	UTSW	17	43,626,591 (GRCm38)	missense	possibly damaging	0.80
R0057:Tdrd6	UTSW	17	43,617,161 (GRCm38)	splice site	probably benign
R0090:Tdrd6	UTSW	17	43,628,241 (GRCm38)	missense	probably benign	0.00
R0270:Tdrd6	UTSW	17	43,624,308 (GRCm38)	missense	probably benign
R0463:Tdrd6	UTSW	17	43,625,561 (GRCm38)	missense	probably damaging	1.00
R0594:Tdrd6	UTSW	17	43,629,383 (GRCm38)	missense	probably damaging	1.00
R0650:Tdrd6	UTSW	17	43,628,159 (GRCm38)	missense	probably damaging	0.99
R1226:Tdrd6	UTSW	17	43,626,632 (GRCm38)	missense	possibly damaging	0.63
R1309:Tdrd6	UTSW	17	43,626,621 (GRCm38)	missense	probably benign
R1483:Tdrd6	UTSW	17	43,627,607 (GRCm38)	missense	probably benign	0.31
R1561:Tdrd6	UTSW	17	43,625,624 (GRCm38)	missense	probably damaging	0.96
R1574:Tdrd6	UTSW	17	43,625,624 (GRCm38)	missense	probably damaging	0.96
R1647:Tdrd6	UTSW	17	43,627,109 (GRCm38)	missense	possibly damaging	0.49
R1648:Tdrd6	UTSW	17	43,627,109 (GRCm38)	missense	possibly damaging	0.49
R1723:Tdrd6	UTSW	17	43,628,327 (GRCm38)	missense	possibly damaging	0.94
R1786:Tdrd6	UTSW	17	43,624,833 (GRCm38)	missense	probably benign	0.01
R1819:Tdrd6	UTSW	17	43,626,551 (GRCm38)	missense	probably benign	0.00
R1836:Tdrd6	UTSW	17	43,625,589 (GRCm38)	missense	probably benign	0.03
R1892:Tdrd6	UTSW	17	43,624,805 (GRCm38)	missense	probably benign	0.00
R1911:Tdrd6	UTSW	17	43,627,088 (GRCm38)	missense	probably benign	0.21
R1936:Tdrd6	UTSW	17	43,626,467 (GRCm38)	missense	probably damaging	0.98
R2005:Tdrd6	UTSW	17	43,628,655 (GRCm38)	missense	probably damaging	1.00
R2006:Tdrd6	UTSW	17	43,628,655 (GRCm38)	missense	probably damaging	1.00
R2132:Tdrd6	UTSW	17	43,624,833 (GRCm38)	missense	probably benign	0.01
R2133:Tdrd6	UTSW	17	43,624,833 (GRCm38)	missense	probably benign	0.01
R3010:Tdrd6	UTSW	17	43,628,042 (GRCm38)	missense	probably benign	0.00
R4225:Tdrd6	UTSW	17	43,625,973 (GRCm38)	missense	probably damaging	1.00
R4448:Tdrd6	UTSW	17	43,629,735 (GRCm38)	missense	probably benign	0.26
R4449:Tdrd6	UTSW	17	43,629,735 (GRCm38)	missense	probably benign	0.26
R4531:Tdrd6	UTSW	17	43,628,754 (GRCm38)	missense	probably damaging	0.98
R4624:Tdrd6	UTSW	17	43,625,990 (GRCm38)	missense	probably damaging	0.99
R4665:Tdrd6	UTSW	17	43,624,116 (GRCm38)	missense	probably benign
R4676:Tdrd6	UTSW	17	43,627,610 (GRCm38)	missense	probably damaging	0.96
R4785:Tdrd6	UTSW	17	43,625,576 (GRCm38)	missense	probably damaging	1.00
R4912:Tdrd6	UTSW	17	43,624,327 (GRCm38)	missense	probably benign	0.34
R5134:Tdrd6	UTSW	17	43,626,210 (GRCm38)	missense	probably damaging	1.00
R5145:Tdrd6	UTSW	17	43,626,075 (GRCm38)	missense	probably damaging	0.96
R5623:Tdrd6	UTSW	17	43,629,333 (GRCm38)	missense	probably damaging	1.00
R5712:Tdrd6	UTSW	17	43,626,408 (GRCm38)	missense	probably damaging	1.00
R5897:Tdrd6	UTSW	17	43,624,877 (GRCm38)	missense	probably damaging	0.98
R5913:Tdrd6	UTSW	17	43,628,411 (GRCm38)	missense	possibly damaging	0.73
R6142:Tdrd6	UTSW	17	43,629,482 (GRCm38)	missense	probably benign	0.01
R6181:Tdrd6	UTSW	17	43,628,897 (GRCm38)	missense	probably damaging	1.00
R6195:Tdrd6	UTSW	17	43,629,752 (GRCm38)	missense	probably damaging	1.00
R6233:Tdrd6	UTSW	17	43,629,752 (GRCm38)	missense	probably damaging	1.00
R6289:Tdrd6	UTSW	17	43,624,520 (GRCm38)	missense	probably benign	0.01
R6315:Tdrd6	UTSW	17	43,626,338 (GRCm38)	missense	probably benign	0.02
R6578:Tdrd6	UTSW	17	43,628,961 (GRCm38)	missense	possibly damaging	0.65
R6645:Tdrd6	UTSW	17	43,624,532 (GRCm38)	missense	probably benign	0.10
R6822:Tdrd6	UTSW	17	43,627,215 (GRCm38)	missense	probably damaging	1.00
R7000:Tdrd6	UTSW	17	43,627,708 (GRCm38)	missense	probably benign	0.28
R7075:Tdrd6	UTSW	17	43,625,174 (GRCm38)	missense	probably benign	0.10
R7107:Tdrd6	UTSW	17	43,624,204 (GRCm38)	missense	probably benign	0.00
R7381:Tdrd6	UTSW	17	43,626,093 (GRCm38)	missense	probably benign	0.00
R7458:Tdrd6	UTSW	17	43,625,046 (GRCm38)	missense	probably benign	0.02
R7461:Tdrd6	UTSW	17	43,627,926 (GRCm38)	missense	probably benign	0.00
R7505:Tdrd6	UTSW	17	43,627,679 (GRCm38)	missense	not run
R7583:Tdrd6	UTSW	17	43,624,238 (GRCm38)	missense	probably benign	0.29
R7613:Tdrd6	UTSW	17	43,627,926 (GRCm38)	missense	probably benign	0.00
R7723:Tdrd6	UTSW	17	43,625,960 (GRCm38)	missense	probably benign	0.09
R7759:Tdrd6	UTSW	17	43,624,839 (GRCm38)	missense	probably benign	0.00
R7924:Tdrd6	UTSW	17	43,627,806 (GRCm38)	missense	possibly damaging	0.94
R8002:Tdrd6	UTSW	17	43,629,819 (GRCm38)	missense	probably damaging	0.98
R8134:Tdrd6	UTSW	17	43,626,173 (GRCm38)	missense	probably damaging	0.99
R8231:Tdrd6	UTSW	17	43,622,135 (GRCm38)	missense	probably damaging	1.00
R8242:Tdrd6	UTSW	17	43,628,930 (GRCm38)	missense	probably damaging	1.00
R8542:Tdrd6	UTSW	17	43,624,892 (GRCm38)	missense	probably damaging	1.00
R8713:Tdrd6	UTSW	17	43,625,019 (GRCm38)	missense	probably benign	0.28
R9100:Tdrd6	UTSW	17	43,625,414 (GRCm38)	missense	possibly damaging	0.76
R9201:Tdrd6	UTSW	17	43,625,670 (GRCm38)	missense	probably benign	0.00
R9222:Tdrd6	UTSW	17	43,628,340 (GRCm38)	missense	probably damaging	1.00
R9369:Tdrd6	UTSW	17	43,625,326 (GRCm38)	missense	probably damaging	1.00
R9373:Tdrd6	UTSW	17	43,628,162 (GRCm38)	missense	possibly damaging	0.90
R9384:Tdrd6	UTSW	17	43,626,892 (GRCm38)	missense	probably benign	0.26
R9448:Tdrd6	UTSW	17	43,625,676 (GRCm38)	missense	probably benign
R9534:Tdrd6	UTSW	17	43,625,619 (GRCm38)	missense	probably benign	0.19
R9613:Tdrd6	UTSW	17	43,628,627 (GRCm38)	missense	probably damaging	0.99
X0065:Tdrd6	UTSW	17	43,625,993 (GRCm38)	missense	probably damaging	0.99
X0065:Tdrd6	UTSW	17	43,625,153 (GRCm38)	missense	possibly damaging	0.80
Z1088:Tdrd6	UTSW	17	43,626,518 (GRCm38)	missense	probably benign	0.23
Z1177:Tdrd6	UTSW	17	43,627,187 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16