Mutagenetix > Incidental Mutation

Incidental Mutation 'R5712:Tdrd6'

450977

Institutional Source

Beutler Lab

Gene Symbol

Tdrd6

Ensembl Gene

ENSMUSG00000040140

Gene Name

tudor domain containing 6

Synonyms

MMRRC Submission

043334-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5712 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43926226-43941190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43937299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 1250 (G1250C)

Ref Sequence

ENSEMBL: ENSMUSP00000131277 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045717] [ENSMUST00000168073]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000045717
AA Change: G1250C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035338
Gene: ENSMUSG00000040140
AA Change: G1250C

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 damaging
Transcript: ENSMUST00000168073
AA Change: G1250C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131277
Gene: ENSMUSG00000040140
AA Change: G1250C

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

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 144,981,563 (GRCm39)	T133A	probably benign	Het
Adcy8	C	T	15: 64,626,715 (GRCm39)	E708K	probably damaging	Het
Alkbh1	A	G	12: 87,475,883 (GRCm39)	C300R	probably benign	Het
Arhgap11a	T	C	2: 113,675,646 (GRCm39)	N52D	probably benign	Het
Ash1l	T	A	3: 88,959,297 (GRCm39)	S2225T	probably damaging	Het
Aspn	A	T	13: 49,716,995 (GRCm39)	Y257F	probably damaging	Het
Atp2b4	A	C	1: 133,658,278 (GRCm39)	V544G	probably damaging	Het
Bclaf1	T	G	10: 20,209,277 (GRCm39)	Y498D	probably damaging	Het
Cacna1d	A	G	14: 29,796,954 (GRCm39)	I1520T	probably damaging	Het
Castor1	T	C	11: 4,168,378 (GRCm39)	L22P	probably damaging	Het
Cfap57	G	T	4: 118,471,992 (GRCm39)	P129Q	probably damaging	Het
Clcn3	A	G	8: 61,390,332 (GRCm39)		probably null	Het
Epx	A	T	11: 87,765,679 (GRCm39)	Y93*	probably null	Het
Erich6b	T	A	14: 75,896,340 (GRCm39)	D75E	possibly damaging	Het
Exoc3l4	T	A	12: 111,390,476 (GRCm39)	Y350*	probably null	Het
Fam13a	T	A	6: 58,933,684 (GRCm39)	D302V	probably damaging	Het
Fbxo17	G	A	7: 28,436,897 (GRCm39)	R284H	probably damaging	Het
Fga	C	T	3: 82,940,440 (GRCm39)	T698I	possibly damaging	Het
Fsip2	T	C	2: 82,839,192 (GRCm39)	S6987P	possibly damaging	Het
Gbp9	T	A	5: 105,242,421 (GRCm39)	N106I	possibly damaging	Het
Gls	T	A	1: 52,235,911 (GRCm39)	K401N	probably damaging	Het
Gpatch2l	A	G	12: 86,291,254 (GRCm39)	K146E	probably damaging	Het
Gpr3	A	G	4: 132,937,719 (GRCm39)	S318P	probably benign	Het
Kbtbd7	T	C	14: 79,666,205 (GRCm39)	V679A	possibly damaging	Het
Kcnu1	T	A	8: 26,409,678 (GRCm39)	L127H	probably damaging	Het
Lck	G	T	4: 129,450,103 (GRCm39)	H214Q	probably benign	Het
Lrch4	A	C	5: 137,636,188 (GRCm39)	S380R	possibly damaging	Het
Lrrk2	A	T	15: 91,586,425 (GRCm39)	K414*	probably null	Het
Maco1	A	T	4: 134,555,369 (GRCm39)	M368K	probably benign	Het
Med11	A	G	11: 70,344,058 (GRCm39)	E126G	probably damaging	Het
Mknk1	A	G	4: 115,712,203 (GRCm39)		probably null	Het
Mst1	T	C	9: 107,960,107 (GRCm39)	C355R	probably damaging	Het
Mtcl2	T	A	2: 156,872,841 (GRCm39)	E890V	probably damaging	Het
Myl10	T	C	5: 136,723,092 (GRCm39)	F14L	probably damaging	Het
Nfrkb	C	T	9: 31,325,932 (GRCm39)	T1125M	probably benign	Het
Nin	T	C	12: 70,089,543 (GRCm39)	T1291A	probably damaging	Het
Pcnt	T	C	10: 76,265,105 (GRCm39)	Q335R	probably damaging	Het
Phc2	A	G	4: 128,638,888 (GRCm39)	T83A	probably damaging	Het
Rdh19	T	A	10: 127,692,756 (GRCm39)	M141K	probably benign	Het
Rnf17	G	A	14: 56,708,856 (GRCm39)	V759I	probably benign	Het
Sirt7	A	T	11: 120,511,677 (GRCm39)	Y18*	probably null	Het
Slc27a5	T	C	7: 12,732,010 (GRCm39)		probably benign	Het
Synpo2	T	A	3: 122,914,859 (GRCm39)	I56F	probably damaging	Het
Tmem190	G	A	7: 4,787,288 (GRCm39)	G164D	probably damaging	Het
Tmigd1	T	C	11: 76,797,858 (GRCm39)	Y67H	probably damaging	Het
Trim3	T	A	7: 105,268,743 (GRCm39)	E70D	probably damaging	Het
Uap1	A	G	1: 169,994,414 (GRCm39)	F21L	possibly damaging	Het
Vmn1r176	A	T	7: 23,534,925 (GRCm39)	V76D	probably benign	Het
Vps13d	A	C	4: 144,813,743 (GRCm39)	S3245A	probably benign	Het
Wnt7a	T	C	6: 91,343,186 (GRCm39)	Y232C	probably damaging	Het
Zan	A	G	5: 137,398,360 (GRCm39)	V4224A	unknown	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAGGTCTTAAAGCCAGGAGC -3'
(R):5'- CTCTACGAGACCAAAGCTCTTGAAG -3'

Sequencing Primer
(F):5'- AGCTATTGTCTTTTGTGGGAATTCAC -3'
(R):5'- ACCAAAGCTCTTGAAGATAAAAAGG -3'

Posted On

2017-01-03