Mutagenetix > Incidental Mutation

Incidental Mutation 'R4912:Tdrd6'

379660

Institutional Source

Beutler Lab

Gene Symbol

Tdrd6

Ensembl Gene

ENSMUSG00000040140

Gene Name

tudor domain containing 6

Synonyms

MMRRC Submission

042514-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4912 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43615335-43630299 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 43624327 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1943 (D1943E)

Ref Sequence

ENSEMBL: ENSMUSP00000035338 (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: D1943E

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000035338
Gene: ENSMUSG00000040140
AA Change: D1943E

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: D1943E

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000131277
Gene: ENSMUSG00000040140
AA Change: D1943E

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: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.9%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,419,856	D52G	possibly damaging	Het
2810474O19Rik	C	G	6: 149,329,389	S1311C	probably damaging	Het
Acaa1a	C	A	9: 119,342,761	R102S	probably damaging	Het
Arhgef12	G	A	9: 42,993,065	R706*	probably null	Het
Best3	A	G	10: 117,008,981	Y347C	probably damaging	Het
Birc6	T	A	17: 74,565,905	D386E	probably damaging	Het
C130050O18Rik	A	T	5: 139,414,389	T66S	probably benign	Het
Chd9	A	T	8: 91,034,230	D2201V	possibly damaging	Het
Csk	A	G	9: 57,630,780	Y48H	probably damaging	Het
Dffb	T	A	4: 153,965,407		probably benign	Het
Diaph3	A	C	14: 87,007,199	C217W	probably damaging	Het
Eml2	T	A	7: 19,193,999		probably null	Het
Ercc5	T	C	1: 44,157,057	I70T	probably damaging	Het
Fryl	AGTGTGT	AGTGT	5: 73,068,782		probably null	Het
Fsd1	C	T	17: 55,991,241	P189S	possibly damaging	Het
Gm42669	A	G	5: 107,508,817	K982R	probably damaging	Het
Gm5414	A	G	15: 101,625,010	I373T	possibly damaging	Het
Gm7356	A	G	17: 14,001,236	L177P	possibly damaging	Het
Grip1	G	A	10: 119,931,248	D93N	probably damaging	Het
Hbq1b	T	A	11: 32,287,014	M1K	probably null	Het
Hps3	C	A	3: 20,014,173	L572F	probably damaging	Het
Ighj2	T	A	12: 113,429,480		probably benign	Het
Kcna3	T	C	3: 107,037,891	M490T	probably benign	Het
Krt76	T	A	15: 101,888,162	K404*	probably null	Het
Lgr4	A	T	2: 110,006,502		probably null	Het
Ltbp4	G	T	7: 27,306,116	C1533*	probably null	Het
Mapre2	A	G	18: 23,832,933	N25S	probably damaging	Het
Mark3	T	A	12: 111,592,653	I43K	probably benign	Het
Mon1b	T	A	8: 113,641,953	Y495*	probably null	Het
Mrfap1	A	G	5: 36,796,745		probably benign	Het
Mxra8	A	G	4: 155,840,904		probably null	Het
Myoz1	A	T	14: 20,649,538	L244Q	probably damaging	Het
Ndfip2	C	T	14: 105,258,685	R5W	probably benign	Het
Nek11	T	C	9: 105,287,658	D423G	probably benign	Het
Nin	A	T	12: 70,044,063	D859E	probably damaging	Het
Nup210	G	A	6: 91,017,529	A1729V	probably benign	Het
Olfm3	A	G	3: 115,101,940	E157G	probably damaging	Het
Olfr397	A	T	11: 73,965,340	H244L	probably damaging	Het
Prickle1	A	G	15: 93,500,548	S800P	probably benign	Het
Reln	A	G	5: 21,925,193	S2707P	probably benign	Het
Rexo4	G	A	2: 26,962,392	T200M	possibly damaging	Het
Saxo2	T	A	7: 82,634,535	I372L	probably benign	Het
Scgb2b2	T	A	7: 31,303,631	D50E	probably benign	Het
Sipa1l1	T	C	12: 82,396,678	L914P	possibly damaging	Het
Slf1	T	A	13: 77,051,294	D656V	probably damaging	Het
Sorbs1	T	C	19: 40,311,727	D1192G	probably damaging	Het
Tmem163	G	A	1: 127,491,625	T281M	probably damaging	Het
Tmod3	A	G	9: 75,532,448	V35A	probably damaging	Het
Ttc39c	A	T	18: 12,734,894	Q448L	probably benign	Het
Ulk1	A	T	5: 110,787,589	S937T	probably damaging	Het
Unc13c	T	A	9: 73,574,022	D1711V	probably damaging	Het
Usp5	C	G	6: 124,822,630	K318N	possibly damaging	Het
Utp20	G	T	10: 88,771,960	Q1596K	probably benign	Het
Vmn1r28	A	T	6: 58,265,540	I123F	possibly damaging	Het
Vmn1r73	T	A	7: 11,756,669	V138E	probably damaging	Het
Vmn2r112	A	G	17: 22,603,382	D347G	probably damaging	Het
Vmn2r3	T	G	3: 64,259,197	T838P	probably damaging	Het
Vps13d	A	T	4: 145,155,857	D1055E	probably benign	Het
Wdr17	T	C	8: 54,629,861	D1268G	probably damaging	Het
Zfp108	T	A	7: 24,261,314	H443Q	probably damaging	Het
Zfp608	A	G	18: 54,946,591	V374A	probably damaging	Het
Zfp831	G	T	2: 174,644,624	G364V	probably damaging	Het
Zfp94	A	G	7: 24,303,741	V86A	probably benign	Het
Zkscan16	A	C	4: 58,946,506	N127T	possibly damaging	Het

Other mutations in Tdrd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Tdrd6	APN	17	43628160	missense	probably damaging	0.96
IGL00844:Tdrd6	APN	17	43617196	missense	probably benign
IGL00845:Tdrd6	APN	17	43626716	missense	probably benign	0.06
IGL01558:Tdrd6	APN	17	43625768	missense	probably damaging	1.00
IGL01558:Tdrd6	APN	17	43624766	missense	probably benign	0.02
IGL01575:Tdrd6	APN	17	43627980	missense	probably benign	0.00
IGL01812:Tdrd6	APN	17	43625174	missense	probably benign	0.10
IGL02013:Tdrd6	APN	17	43625946	missense	probably benign	0.00
IGL02067:Tdrd6	APN	17	43628209	missense	probably damaging	1.00
IGL02112:Tdrd6	APN	17	43629351	missense	probably damaging	1.00
IGL02159:Tdrd6	APN	17	43628390	missense	probably damaging	1.00
IGL02226:Tdrd6	APN	17	43627202	missense	probably damaging	1.00
IGL02416:Tdrd6	APN	17	43624738	missense	probably benign	0.39
IGL02577:Tdrd6	APN	17	43626837	missense	probably damaging	0.99
IGL02631:Tdrd6	APN	17	43626219	missense	probably damaging	1.00
IGL02738:Tdrd6	APN	17	43620446	missense	probably benign	0.06
IGL02792:Tdrd6	APN	17	43625027	missense	probably benign
IGL02929:Tdrd6	APN	17	43629713	missense	possibly damaging	0.61
IGL02934:Tdrd6	APN	17	43627887	missense	probably benign	0.42
IGL02954:Tdrd6	APN	17	43627262	missense	possibly damaging	0.82
IGL02969:Tdrd6	APN	17	43627549	missense	probably damaging	0.98
IGL03006:Tdrd6	APN	17	43625432	missense	probably damaging	1.00
IGL03155:Tdrd6	APN	17	43625507	missense	probably damaging	1.00
IGL03219:Tdrd6	APN	17	43627964	missense	probably benign	0.04
IGL03372:Tdrd6	APN	17	43625568	missense	probably damaging	1.00
Edward	UTSW	17	43627215	missense	probably damaging	1.00
eliza	UTSW	17	43628162	missense	possibly damaging	0.90
Elizabeth	UTSW	17	43624204	missense	probably benign	0.00
henry	UTSW	17	43628159	missense	probably damaging	0.99
BB001:Tdrd6	UTSW	17	43627806	missense	possibly damaging	0.94
BB011:Tdrd6	UTSW	17	43627806	missense	possibly damaging	0.94
G1citation:Tdrd6	UTSW	17	43627215	missense	probably damaging	1.00
R0030:Tdrd6	UTSW	17	43626591	missense	possibly damaging	0.80
R0057:Tdrd6	UTSW	17	43617161	splice site	probably benign
R0090:Tdrd6	UTSW	17	43628241	missense	probably benign	0.00
R0270:Tdrd6	UTSW	17	43624308	missense	probably benign
R0463:Tdrd6	UTSW	17	43625561	missense	probably damaging	1.00
R0594:Tdrd6	UTSW	17	43629383	missense	probably damaging	1.00
R0650:Tdrd6	UTSW	17	43628159	missense	probably damaging	0.99
R1226:Tdrd6	UTSW	17	43626632	missense	possibly damaging	0.63
R1309:Tdrd6	UTSW	17	43626621	missense	probably benign
R1483:Tdrd6	UTSW	17	43627607	missense	probably benign	0.31
R1561:Tdrd6	UTSW	17	43625624	missense	probably damaging	0.96
R1574:Tdrd6	UTSW	17	43625624	missense	probably damaging	0.96
R1647:Tdrd6	UTSW	17	43627109	missense	possibly damaging	0.49
R1648:Tdrd6	UTSW	17	43627109	missense	possibly damaging	0.49
R1723:Tdrd6	UTSW	17	43628327	missense	possibly damaging	0.94
R1786:Tdrd6	UTSW	17	43624833	missense	probably benign	0.01
R1819:Tdrd6	UTSW	17	43626551	missense	probably benign	0.00
R1836:Tdrd6	UTSW	17	43625589	missense	probably benign	0.03
R1892:Tdrd6	UTSW	17	43624805	missense	probably benign	0.00
R1911:Tdrd6	UTSW	17	43627088	missense	probably benign	0.21
R1936:Tdrd6	UTSW	17	43626467	missense	probably damaging	0.98
R2005:Tdrd6	UTSW	17	43628655	missense	probably damaging	1.00
R2006:Tdrd6	UTSW	17	43628655	missense	probably damaging	1.00
R2132:Tdrd6	UTSW	17	43624833	missense	probably benign	0.01
R2133:Tdrd6	UTSW	17	43624833	missense	probably benign	0.01
R3010:Tdrd6	UTSW	17	43628042	missense	probably benign	0.00
R4225:Tdrd6	UTSW	17	43625973	missense	probably damaging	1.00
R4448:Tdrd6	UTSW	17	43629735	missense	probably benign	0.26
R4449:Tdrd6	UTSW	17	43629735	missense	probably benign	0.26
R4531:Tdrd6	UTSW	17	43628754	missense	probably damaging	0.98
R4624:Tdrd6	UTSW	17	43625990	missense	probably damaging	0.99
R4665:Tdrd6	UTSW	17	43624116	missense	probably benign
R4676:Tdrd6	UTSW	17	43627610	missense	probably damaging	0.96
R4785:Tdrd6	UTSW	17	43625576	missense	probably damaging	1.00
R5134:Tdrd6	UTSW	17	43626210	missense	probably damaging	1.00
R5145:Tdrd6	UTSW	17	43626075	missense	probably damaging	0.96
R5623:Tdrd6	UTSW	17	43629333	missense	probably damaging	1.00
R5712:Tdrd6	UTSW	17	43626408	missense	probably damaging	1.00
R5897:Tdrd6	UTSW	17	43624877	missense	probably damaging	0.98
R5913:Tdrd6	UTSW	17	43628411	missense	possibly damaging	0.73
R6142:Tdrd6	UTSW	17	43629482	missense	probably benign	0.01
R6181:Tdrd6	UTSW	17	43628897	missense	probably damaging	1.00
R6195:Tdrd6	UTSW	17	43629752	missense	probably damaging	1.00
R6233:Tdrd6	UTSW	17	43629752	missense	probably damaging	1.00
R6289:Tdrd6	UTSW	17	43624520	missense	probably benign	0.01
R6315:Tdrd6	UTSW	17	43626338	missense	probably benign	0.02
R6578:Tdrd6	UTSW	17	43628961	missense	possibly damaging	0.65
R6645:Tdrd6	UTSW	17	43624532	missense	probably benign	0.10
R6822:Tdrd6	UTSW	17	43627215	missense	probably damaging	1.00
R7000:Tdrd6	UTSW	17	43627708	missense	probably benign	0.28
R7075:Tdrd6	UTSW	17	43625174	missense	probably benign	0.10
R7107:Tdrd6	UTSW	17	43624204	missense	probably benign	0.00
R7381:Tdrd6	UTSW	17	43626093	missense	probably benign	0.00
R7458:Tdrd6	UTSW	17	43625046	missense	probably benign	0.02
R7461:Tdrd6	UTSW	17	43627926	missense	probably benign	0.00
R7505:Tdrd6	UTSW	17	43627679	missense	not run
R7583:Tdrd6	UTSW	17	43624238	missense	probably benign	0.29
R7613:Tdrd6	UTSW	17	43627926	missense	probably benign	0.00
R7723:Tdrd6	UTSW	17	43625960	missense	probably benign	0.09
R7759:Tdrd6	UTSW	17	43624839	missense	probably benign	0.00
R7924:Tdrd6	UTSW	17	43627806	missense	possibly damaging	0.94
R8002:Tdrd6	UTSW	17	43629819	missense	probably damaging	0.98
R8134:Tdrd6	UTSW	17	43626173	missense	probably damaging	0.99
R8231:Tdrd6	UTSW	17	43622135	missense	probably damaging	1.00
R8242:Tdrd6	UTSW	17	43628930	missense	probably damaging	1.00
R8542:Tdrd6	UTSW	17	43624892	missense	probably damaging	1.00
R8713:Tdrd6	UTSW	17	43625019	missense	probably benign	0.28
R9100:Tdrd6	UTSW	17	43625414	missense	possibly damaging	0.76
R9201:Tdrd6	UTSW	17	43625670	missense	probably benign	0.00
R9222:Tdrd6	UTSW	17	43628340	missense	probably damaging	1.00
R9369:Tdrd6	UTSW	17	43625326	missense	probably damaging	1.00
R9373:Tdrd6	UTSW	17	43628162	missense	possibly damaging	0.90
R9384:Tdrd6	UTSW	17	43626892	missense	probably benign	0.26
R9448:Tdrd6	UTSW	17	43625676	missense	probably benign
R9534:Tdrd6	UTSW	17	43625619	missense	probably benign	0.19
R9613:Tdrd6	UTSW	17	43628627	missense	probably damaging	0.99
X0065:Tdrd6	UTSW	17	43625153	missense	possibly damaging	0.80
X0065:Tdrd6	UTSW	17	43625993	missense	probably damaging	0.99
Z1088:Tdrd6	UTSW	17	43626518	missense	probably benign	0.23
Z1177:Tdrd6	UTSW	17	43627187	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCTCAGAGAACAAGGGTGC -3'
(R):5'- AGTTACAGCACTCCCCTGTTG -3'

Sequencing Primer
(F):5'- CCAATAAGGCGGCGCTGTC -3'
(R):5'- AATGGCACCGCTGTCTC -3'

Posted On

2016-04-15