Mutagenetix > Incidental Mutations

Incidental Mutation 'R4602:Tdrd5'

345684

Institutional Source

Beutler Lab

Gene Symbol

Tdrd5

Ensembl Gene

ENSMUSG00000060985

Gene Name

tudor domain containing 5

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.294) question?

Stock #

R4602 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156255296-156303664 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 156284374 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 479 (T479S)

Ref Sequence

ENSEMBL: ENSMUSP00000137298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121146] [ENSMUST00000167528]

Predicted Effect

probably benign
Transcript: ENSMUST00000121146
AA Change: T479S

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000137298
Gene: ENSMUSG00000060985
AA Change: T479S

Domain	Start	End	E-Value	Type
Pfam:OST-HTH	6	76	3.7e-11	PFAM
Pfam:OST-HTH	126	194	1.5e-10	PFAM
Pfam:OST-HTH	290	361	7.4e-10	PFAM
TUDOR	532	590	3.25e-7	SMART
low complexity region	739	753	N/A	INTRINSIC
low complexity region	1001	1021	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167528
AA Change: T402S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000137182
Gene: ENSMUSG00000060985
AA Change: T402S

Domain	Start	End	E-Value	Type
Pfam:OST-HTH	6	75	1.4e-9	PFAM
Pfam:OST-HTH	213	284	6.4e-9	PFAM
TUDOR	455	513	3.25e-7	SMART
low complexity region	662	676	N/A	INTRINSIC
low complexity region	924	944	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with defective spermatid elongation, occasional arrested male meiosis, and apoptosis of male germ cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	T	8: 45,970,468	I69N	probably damaging	Het
Ahnak	A	G	19: 9,010,825	K3158E	possibly damaging	Het
Ak7	G	A	12: 105,713,575	V123M	probably benign	Het
Ankmy1	A	T	1: 92,888,650	N247K	probably benign	Het
Atp1a1	A	G	3: 101,586,943	V447A	probably benign	Het
Atp1a4	A	C	1: 172,239,765	M600R	probably damaging	Het
Baat	A	G	4: 49,502,727	Y132H	probably damaging	Het
Ceacam15	A	G	7: 16,671,981	V215A	probably damaging	Het
Celf2	G	T	2: 6,586,020	N279K	possibly damaging	Het
Clec14a	C	T	12: 58,267,981	R285H	probably benign	Het
Ctnna1	T	G	18: 35,179,827	I244R	possibly damaging	Het
D230025D16Rik	C	A	8: 105,246,888	N282K	possibly damaging	Het
Dcxr	T	A	11: 120,726,304	N105Y	possibly damaging	Het
Dnajc6	T	C	4: 101,611,264	F166L	probably damaging	Het
Ercc3	G	A	18: 32,245,571	A202T	probably benign	Het
Faf1	A	G	4: 109,727,428	D67G	probably benign	Het
Fancm	G	A	12: 65,124,944	R1786H	probably benign	Het
Fnbp1	A	G	2: 31,036,540		probably null	Het
Frem2	A	G	3: 53,547,807	L2116S	possibly damaging	Het
Gbp5	A	G	3: 142,503,785	E164G	probably benign	Het
Gm4922	A	T	10: 18,784,259	Y238*	probably null	Het
Gm8257	A	G	14: 44,656,317	Y62H	probably damaging	Het
Grin2b	A	G	6: 135,778,741	F525S	probably damaging	Het
Hfe2	T	G	3: 96,527,553	S203A	probably benign	Het
Hsd17b3	C	A	13: 64,063,170		probably null	Het
Ighv1-23	T	A	12: 114,764,559	Q81L	probably benign	Het
Inpp4b	T	C	8: 81,969,535	V366A	probably damaging	Het
Jak1	G	T	4: 101,179,594	A283D	possibly damaging	Het
Kmt2d	G	T	15: 98,850,259		probably benign	Het
Mbtps1	A	T	8: 119,535,347	D354E	probably damaging	Het
Mettl17	T	C	14: 51,888,789	V218A	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Nfat5	C	T	8: 107,367,223	Q699*	probably null	Het
Olfr1193	G	A	2: 88,677,896	V14I	probably benign	Het
Olfr1193	T	G	2: 88,678,179	V101G	probably benign	Het
Olfr868	C	A	9: 20,101,244	H162N	probably benign	Het
Osbpl7	C	A	11: 97,056,269	S265R	possibly damaging	Het
Pcdh15	A	G	10: 74,594,214	T1258A	probably damaging	Het
Pcdh20	A	T	14: 88,468,430	L478Q	probably damaging	Het
Pde11a	A	G	2: 76,158,333	V488A	probably benign	Het
Phactr1	A	T	13: 43,094,965	E463D	probably benign	Het
Samd9l	A	T	6: 3,373,935	Y1109N	probably damaging	Het
Samd9l	GAA	GAAA	6: 3,373,937		probably null	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Serpinb12	T	A	1: 106,949,153	D66E	probably benign	Het
Sgk2	G	A	2: 162,994,754		probably null	Het
Slco1a6	C	A	6: 142,101,652	C404F	probably benign	Het
Spaca6	C	T	17: 17,831,125	A21V	probably damaging	Het
Sphkap	G	T	1: 83,279,061	Y322*	probably null	Het
Sptlc3	G	A	2: 139,636,680	V520I	probably benign	Het
Stox2	A	G	8: 47,192,935	S497P	probably damaging	Het
Syt9	A	T	7: 107,436,387	K204*	probably null	Het
Taf3	A	G	2: 9,952,657	V233A	probably damaging	Het
Tbccd1	T	C	16: 22,818,535		probably null	Het
Tex10	T	C	4: 48,452,946	D671G	probably benign	Het
Tgtp2	T	C	11: 49,058,984	T254A	probably damaging	Het
Tmtc2	T	C	10: 105,413,530	Y114C	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Ubac1	A	T	2: 25,998,977	I402N	probably damaging	Het
Zmat1	A	T	X: 134,972,945	S566T	probably damaging	Homo

Other mutations in Tdrd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01651:Tdrd5	APN	1	156301827	missense	probably benign	0.32
IGL02441:Tdrd5	APN	1	156259943	splice site	probably benign
IGL02932:Tdrd5	APN	1	156270620	missense	possibly damaging	0.52
R0049:Tdrd5	UTSW	1	156301903	missense	probably damaging	1.00
R0416:Tdrd5	UTSW	1	156285481	missense	probably damaging	0.96
R0518:Tdrd5	UTSW	1	156262941	missense	probably damaging	0.99
R1439:Tdrd5	UTSW	1	156277487	missense	probably damaging	1.00
R1454:Tdrd5	UTSW	1	156259836	missense	probably benign	0.41
R1497:Tdrd5	UTSW	1	156255802	missense	probably benign	0.28
R1774:Tdrd5	UTSW	1	156277509	missense	probably damaging	1.00
R2101:Tdrd5	UTSW	1	156301639	missense	probably damaging	1.00
R2125:Tdrd5	UTSW	1	156276573	missense	probably damaging	0.99
R2126:Tdrd5	UTSW	1	156276573	missense	probably damaging	0.99
R2197:Tdrd5	UTSW	1	156259865	missense	probably benign	0.02
R3820:Tdrd5	UTSW	1	156285483	missense	probably benign	0.16
R3928:Tdrd5	UTSW	1	156300778	missense	probably benign	0.06
R4258:Tdrd5	UTSW	1	156259742	missense	probably benign	0.00
R4502:Tdrd5	UTSW	1	156300764	missense	probably benign	0.00
R4601:Tdrd5	UTSW	1	156284374	missense	probably benign	0.12
R4610:Tdrd5	UTSW	1	156284374	missense	probably benign	0.12
R4611:Tdrd5	UTSW	1	156284374	missense	probably benign	0.12
R4674:Tdrd5	UTSW	1	156277435	missense	probably damaging	1.00
R4722:Tdrd5	UTSW	1	156302375	missense	probably benign	0.31
R4778:Tdrd5	UTSW	1	156255587	missense	probably damaging	0.98
R5737:Tdrd5	UTSW	1	156300724	missense	probably benign	0.01
R5881:Tdrd5	UTSW	1	156294500	missense	probably damaging	0.98
R5900:Tdrd5	UTSW	1	156277435	nonsense	probably null
R6234:Tdrd5	UTSW	1	156293377	missense	possibly damaging	0.93
R6557:Tdrd5	UTSW	1	156300721	missense	probably benign	0.10
R7068:Tdrd5	UTSW	1	156284271	missense	probably damaging	1.00
R7184:Tdrd5	UTSW	1	156259935	missense	probably benign	0.30
R7199:Tdrd5	UTSW	1	156301723	missense	probably damaging	0.98
R7432:Tdrd5	UTSW	1	156302432	missense	probably damaging	1.00
R7469:Tdrd5	UTSW	1	156262905	missense	probably benign	0.00
X0026:Tdrd5	UTSW	1	156285427	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGTTAGTTTAGGAGTCCCAAGACC -3'
(R):5'- GACTGCAATAAGGCTGATTCG -3'

Sequencing Primer
(F):5'- TAGTTTAGGAGTCCCAAGACCAACTC -3'
(R):5'- CTGCAATAAGGCTGATTCGTGAAAG -3'

Posted On

2015-09-25