Mutagenetix > Incidental Mutation

Incidental Mutation 'R6315:Tdrd6'

510618

Institutional Source

Beutler Lab

Gene Symbol

Tdrd6

Ensembl Gene

ENSMUSG00000040140

Gene Name

tudor domain containing 6

Synonyms

MMRRC Submission

044472-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6315 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43926226-43941190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43937229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1273 (M1273K)

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: M1273K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000035338
Gene: ENSMUSG00000040140
AA Change: M1273K

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: M1273K

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000131277
Gene: ENSMUSG00000040140
AA Change: M1273K

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (64/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,945,315 (GRCm39)	Y464H	probably damaging	Het
Ahnak	T	C	19: 8,983,990 (GRCm39)	M1758T	probably damaging	Het
Ak9	A	T	10: 41,282,837 (GRCm39)	D1201V	possibly damaging	Het
Amdhd2	A	C	17: 24,377,330 (GRCm39)	H203Q	probably benign	Het
Ano3	A	G	2: 110,527,384 (GRCm39)	M608T	probably damaging	Het
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Atp8b1	C	A	18: 64,664,550 (GRCm39)	R1206L	probably damaging	Het
B4galt5	A	T	2: 167,147,729 (GRCm39)	N215K	probably damaging	Het
Bpifa1	A	G	2: 153,987,996 (GRCm39)	K180E	possibly damaging	Het
Cadm1	C	T	9: 47,721,417 (GRCm39)	T269M	probably damaging	Het
Cadm3	T	C	1: 173,171,919 (GRCm39)	D252G	probably benign	Het
Ccdc18	A	G	5: 108,309,448 (GRCm39)	R348G	probably benign	Het
Cers4	G	A	8: 4,566,980 (GRCm39)	C94Y	probably benign	Het
Cfap58	G	A	19: 47,929,716 (GRCm39)	R59H	probably benign	Het
Col19a1	C	T	1: 24,565,533 (GRCm39)	G266D	unknown	Het
Col6a5	G	T	9: 105,759,169 (GRCm39)	F2012L	probably damaging	Het
Dnah6	T	C	6: 73,168,588 (GRCm39)	Q445R	probably benign	Het
Dsg3	A	G	18: 20,657,643 (GRCm39)	S238G	probably benign	Het
E130308A19Rik	G	A	4: 59,691,132 (GRCm39)	S322N	probably benign	Het
Eif5b	A	G	1: 38,057,114 (GRCm39)	D57G	unknown	Het
Fbn2	T	C	18: 58,188,025 (GRCm39)		probably null	Het
Fbxo38	A	T	18: 62,669,218 (GRCm39)	C77*	probably null	Het
Fgb	T	A	3: 82,952,362 (GRCm39)	Q169L	probably benign	Het
Fut9	A	T	4: 25,619,774 (GRCm39)	Y347N	probably damaging	Het
Gabrg2	T	C	11: 41,862,688 (GRCm39)	K132R	probably damaging	Het
Gpn3	C	T	5: 122,510,638 (GRCm39)		probably benign	Het
Helz2	A	G	2: 180,874,995 (GRCm39)	L1833P	probably damaging	Het
Hk3	C	T	13: 55,158,970 (GRCm39)	D484N	probably benign	Het
Icam4	T	C	9: 20,941,248 (GRCm39)	V129A	probably damaging	Het
Impdh2	T	C	9: 108,440,638 (GRCm39)	S280P	possibly damaging	Het
Impg1	C	A	9: 80,301,356 (GRCm39)	G267V	probably benign	Het
Iqgap1	C	T	7: 80,449,638 (GRCm39)	V39M	possibly damaging	Het
Lyst	A	G	13: 13,818,089 (GRCm39)	N1253S	probably benign	Het
Mgat4b	T	A	11: 50,122,591 (GRCm39)	V195E	probably damaging	Het
Mrgprb8	C	T	7: 48,038,983 (GRCm39)	T218I	probably damaging	Het
Myrfl	T	G	10: 116,658,724 (GRCm39)	E411A	possibly damaging	Het
Myt1l	T	C	12: 29,877,797 (GRCm39)	S483P	unknown	Het
Neil2	A	G	14: 63,420,920 (GRCm39)	V80A	possibly damaging	Het
Nfe2l2	G	T	2: 75,507,163 (GRCm39)	D312E	probably damaging	Het
Nin	A	T	12: 70,092,389 (GRCm39)	L640Q	probably damaging	Het
Nup205	T	A	6: 35,213,804 (GRCm39)	I1732N	probably damaging	Het
Nup42	T	C	5: 24,372,502 (GRCm39)	S97P	probably damaging	Het
Or5b114-ps1	T	C	19: 13,352,769 (GRCm39)	C148R	unknown	Het
Or5k16	A	C	16: 58,736,609 (GRCm39)	Y132D	probably damaging	Het
Plcb1	A	T	2: 135,188,261 (GRCm39)	T785S	probably benign	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Ppp1r1b	A	G	11: 98,246,216 (GRCm39)	E66G	probably damaging	Het
Ros1	A	T	10: 51,994,306 (GRCm39)	W1325R	probably benign	Het
Sec14l5	A	C	16: 4,998,141 (GRCm39)	E500A	possibly damaging	Het
Sirpb1c	A	G	3: 15,886,470 (GRCm39)	V302A	possibly damaging	Het
Spata19	T	C	9: 27,312,133 (GRCm39)	Y107H	possibly damaging	Het
Sv2a	G	A	3: 96,095,502 (GRCm39)	M298I	probably benign	Het
Tectb	A	G	19: 55,179,904 (GRCm39)	H250R	possibly damaging	Het
Trip11	T	G	12: 101,851,837 (GRCm39)	E742D	possibly damaging	Het
Tslp	A	G	18: 32,950,143 (GRCm39)	T71A	probably benign	Het
Usp20	C	T	2: 30,907,770 (GRCm39)	R711C	possibly damaging	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Vmn2r8	A	T	5: 108,949,757 (GRCm39)	F363L	probably benign	Het
Vsnl1	T	A	12: 11,382,156 (GRCm39)	N75I	probably damaging	Het
Wdr55	A	T	18: 36,895,122 (GRCm39)	D96V	probably damaging	Het
Wls	T	A	3: 159,640,007 (GRCm39)		probably null	Het
Zc3h13	A	G	14: 75,546,355 (GRCm39)	D152G	probably damaging	Het
Zc3h18	A	G	8: 123,110,604 (GRCm39)	E151G	probably benign	Het
Zfat	A	G	15: 67,956,311 (GRCm39)	S1174P	probably damaging	Het
Zfyve9	T	A	4: 108,531,685 (GRCm39)	T416S	probably 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
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
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'- GCCGTGTTCTGACATCATTTAG -3'
(R):5'- GGTGAATCTTGCAAACCCAAG -3'

Sequencing Primer
(F):5'- GACATCATTTAGTCTCTCTGAGAGG -3'
(R):5'- CCAAGATGGGTCCAGCATG -3'

Posted On

2018-04-02