Mutagenetix > Incidental Mutations

Incidental Mutation 'R3928:Tdrd5'

308353

Institutional Source

Beutler Lab

Gene Symbol

Tdrd5

Ensembl Gene

ENSMUSG00000060985

Gene Name

tudor domain containing 5

Synonyms

MMRRC Submission

040823-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R3928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156255296-156303664 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 156300778 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 136 (T136I)

Ref Sequence

ENSEMBL: ENSMUSP00000137182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121146] [ENSMUST00000141760] [ENSMUST00000167528]

Predicted Effect

probably benign
Transcript: ENSMUST00000121146
AA Change: T213I

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000137298
Gene: ENSMUSG00000060985
AA Change: T213I

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: ENSMUST00000141760

SMART Domains

Protein: ENSMUSP00000137156
Gene: ENSMUSG00000060985

Domain	Start	End	E-Value	Type
Pfam:OST-HTH	6	75	2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167528
AA Change: T136I

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000137182
Gene: ENSMUSG00000060985
AA Change: T136I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195064

Meta Mutation Damage Score

0.1501

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (48/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	A	T	11: 76,468,735	H181Q	probably benign	Het
Atrx	T	C	X: 105,879,917	I157V	possibly damaging	Het
Birc6	A	G	17: 74,611,175	D1856G	possibly damaging	Het
Birc6	A	G	17: 74,638,409	T2811A	probably damaging	Het
Brsk2	T	C	7: 141,998,418	F108S	probably damaging	Het
Clasp2	C	A	9: 113,906,105	H1004N	probably benign	Het
Cntd1	G	A	11: 101,287,519	V315I	probably benign	Het
Col13a1	A	G	10: 61,867,525		probably benign	Het
Ctps	T	A	4: 120,541,896	H553L	probably benign	Het
Dpysl2	A	G	14: 66,824,431	I242T	possibly damaging	Het
Exoc3l	C	T	8: 105,290,917		probably benign	Het
Fam229a	A	G	4: 129,491,411		probably benign	Het
Fshr	C	T	17: 88,985,534	R572H	probably damaging	Het
Gm5501	A	G	18: 9,917,267		noncoding transcript	Het
Gmpr	A	G	13: 45,529,747	I165V	probably benign	Het
Gnat3	G	A	5: 18,003,894		probably benign	Het
H1foo	A	G	6: 115,948,796	K185E	probably benign	Het
H2-Q4	T	G	17: 35,379,690	L16R	unknown	Het
Hs2st1	T	C	3: 144,434,628	K311E	possibly damaging	Het
Kcnj15	A	G	16: 95,296,509	E330G	possibly damaging	Het
Kif3a	A	G	11: 53,570,614	K29E	probably benign	Het
Krtap4-1	A	G	11: 99,628,157	V9A	unknown	Het
Lmntd2	C	T	7: 141,211,204	G432S	probably damaging	Het
Me3	T	C	7: 89,833,690		probably benign	Het
Myo1d	G	T	11: 80,484,261	R996S	probably benign	Het
Myo9a	T	A	9: 59,895,283	W2018R	probably damaging	Het
Nphp3	G	T	9: 104,011,730	V265F	probably damaging	Het
Olfr1331	T	C	4: 118,868,982	L66P	probably damaging	Het
Olfr492	A	G	7: 108,323,025	I217T	probably benign	Het
Olfr894	T	C	9: 38,218,835	M1T	probably null	Het
Pgp	A	G	17: 24,471,341	E247G	probably damaging	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Plch1	G	A	3: 63,767,623	A202V	probably damaging	Het
Rbm11	G	A	16: 75,593,044		probably null	Het
Scg5	T	C	2: 113,791,885	K124R	probably damaging	Het
Serpina3j	A	T	12: 104,319,657	H357L	probably damaging	Het
St6gal2	A	G	17: 55,496,323	D353G	possibly damaging	Het
Tdpoz3	T	C	3: 93,826,909	I297T	possibly damaging	Het
Tfcp2l1	T	A	1: 118,669,476	I429K	possibly damaging	Het
Tnrc6c	C	T	11: 117,723,529	R838W	probably damaging	Het
Top1	T	C	2: 160,687,749		probably benign	Het
Trim61	A	G	8: 65,013,317	F431L	probably benign	Het
Trmo	C	T	4: 46,382,647	G150S	probably damaging	Het
Vmn1r183	T	C	7: 24,055,572	S267P	probably damaging	Het
Xirp2	T	A	2: 67,511,669	F1418Y	possibly damaging	Het
Zfp114	T	C	7: 24,181,042	V271A	possibly damaging	Het
Zfp710	A	G	7: 80,081,386	R104G	probably damaging	Het

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
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
R4602: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
R8030:Tdrd5	UTSW	1	156270595	nonsense	probably null
X0026:Tdrd5	UTSW	1	156285427	missense	probably benign	0.01
Z1176:Tdrd5	UTSW	1	156255699	missense	not run
Z1177:Tdrd5	UTSW	1	156255629	missense	not run
Z1177:Tdrd5	UTSW	1	156302586	missense	not run
Z1177:Tdrd5	UTSW	1	156302588	missense	not run

Predicted Primers

PCR Primer
(F):5'- CAGTGTGGTTCAGCCTTGAAG -3'
(R):5'- AAACTGCTTGGTTGGGCACTC -3'

Sequencing Primer
(F):5'- GCCTCCACAGAATTAAACGTGGG -3'
(R):5'- GAGCAACAGTCTTTTCAGTAACATGG -3'

Posted On

2015-04-17