Mutagenetix > Incidental Mutation

Incidental Mutation 'R7184:Tdrd5'

559151

Institutional Source

Beutler Lab

Gene Symbol

Tdrd5

Ensembl Gene

ENSMUSG00000060985

Gene Name

tudor domain containing 5

Synonyms

MMRRC Submission

045236-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R7184 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156082866-156131234 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 156087505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 883 (Q883K)

Ref Sequence

ENSEMBL: ENSMUSP00000137298 (fasta)

Gene Model

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

AlphaFold

Q5VCS6

Predicted Effect

probably benign
Transcript: ENSMUST00000121146
AA Change: Q883K

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000137298
Gene: ENSMUSG00000060985
AA Change: Q883K

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: Q806K

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000137182
Gene: ENSMUSG00000060985
AA Change: Q806K

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

0.0867

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,094,219 (GRCm39)	S500P	possibly damaging	Het
Aldh9a1	T	A	1: 167,184,965 (GRCm39)	N292K	probably benign	Het
Art2b	A	T	7: 101,229,658 (GRCm39)	S80R	probably benign	Het
Atp6v1b2	G	T	8: 69,555,219 (GRCm39)	A194S	possibly damaging	Het
Bsnd	T	C	4: 106,349,109 (GRCm39)	M44V	probably damaging	Het
Cadps2	A	T	6: 23,583,428 (GRCm39)	V383E	probably benign	Het
Cd93	T	C	2: 148,284,459 (GRCm39)	T296A	possibly damaging	Het
Cdk15	G	T	1: 59,304,814 (GRCm39)	E138D	probably benign	Het
Cdon	A	G	9: 35,375,191 (GRCm39)	I406V	probably benign	Het
Cfhr4	A	G	1: 139,660,822 (GRCm39)	V622A	possibly damaging	Het
Cyp3a41a	A	G	5: 145,642,663 (GRCm39)	V232A	probably benign	Het
Dbndd1	T	A	8: 124,235,860 (GRCm39)	D130V	probably damaging	Het
Dnah14	C	T	1: 181,532,094 (GRCm39)	R2294*	probably null	Het
Eddm3b	A	G	14: 51,354,387 (GRCm39)	Y125C	probably damaging	Het
Eif1ad14	G	A	12: 87,886,492 (GRCm39)	R46W	possibly damaging	Het
Enah	A	T	1: 181,749,957 (GRCm39)	V294E	probably damaging	Het
Farp2	A	G	1: 93,531,137 (GRCm39)	E545G	probably damaging	Het
Farsb	T	C	1: 78,458,994 (GRCm39)	E22G	possibly damaging	Het
Fcsk	G	A	8: 111,613,788 (GRCm39)	P758S	probably damaging	Het
Fezf1	A	G	6: 23,247,835 (GRCm39)	V80A	probably benign	Het
Fpr2	T	C	17: 18,113,533 (GRCm39)	Y39H	unknown	Het
Fsd1l	C	A	4: 53,694,054 (GRCm39)	R344S	probably damaging	Het
Fxyd1	G	T	7: 30,751,401 (GRCm39)	R90S	unknown	Het
Galnt4	T	A	10: 98,944,466 (GRCm39)	Y64N	probably damaging	Het
Gatb	C	T	3: 85,544,258 (GRCm39)	Q409*	probably null	Het
Glipr2	A	C	4: 43,968,667 (GRCm39)	D73A	possibly damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gpr88	C	T	3: 116,045,643 (GRCm39)	V223I	possibly damaging	Het
Gtf2h3	A	G	5: 124,722,067 (GRCm39)	N55S	probably benign	Het
Htr4	T	A	18: 62,570,498 (GRCm39)	C184*	probably null	Het
Ighv6-3	T	A	12: 114,355,475 (GRCm39)	R71S	probably benign	Het
Itpr2	G	C	6: 146,212,585 (GRCm39)	I1510M	possibly damaging	Het
Keap1	T	C	9: 21,145,134 (GRCm39)	Q292R	probably benign	Het
Mab21l4	T	C	1: 93,082,237 (GRCm39)	N294S	probably benign	Het
Malt1	A	C	18: 65,580,764 (GRCm39)	E219D	probably benign	Het
Manba	T	C	3: 135,228,915 (GRCm39)	V279A	possibly damaging	Het
Map4k5	T	A	12: 69,921,095 (GRCm39)	H41L	probably benign	Het
Mcm2	T	G	6: 88,868,776 (GRCm39)	Y327S	probably damaging	Het
Nectin3	A	G	16: 46,215,484 (GRCm39)	I503T	possibly damaging	Het
Nqo1	T	C	8: 108,119,279 (GRCm39)	I99M	probably damaging	Het
Nrxn2	A	G	19: 6,540,582 (GRCm39)	H845R	probably damaging	Het
Otogl	C	T	10: 107,599,061 (GRCm39)	C2254Y	probably damaging	Het
Pmm1	T	C	15: 81,840,415 (GRCm39)	N110S	probably damaging	Het
Poc1b	G	T	10: 98,970,199 (GRCm39)	C68F	probably benign	Het
Polr1b	A	G	2: 128,965,842 (GRCm39)	Y828C	possibly damaging	Het
Prl3d1	A	G	13: 27,282,619 (GRCm39)	H119R	probably damaging	Het
Pum3	A	G	19: 27,403,412 (GRCm39)	S30P	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rusc1	T	C	3: 88,999,194 (GRCm39)	E196G	possibly damaging	Het
Sf3a3	A	G	4: 124,608,772 (GRCm39)	K29E	probably benign	Het
Slc13a1	A	T	6: 24,092,311 (GRCm39)	I475K	probably damaging	Het
Slc26a5	G	T	5: 22,042,244 (GRCm39)	Y237*	probably null	Het
Slc7a14	C	T	3: 31,281,212 (GRCm39)	G366D	probably damaging	Het
Tbc1d5	A	G	17: 51,107,110 (GRCm39)	V482A	probably benign	Het
Tet2	T	C	3: 133,179,391 (GRCm39)	Y1258C	probably damaging	Het
Upf2	A	G	2: 6,028,131 (GRCm39)	D739G	unknown	Het
Vmn1r122	A	T	7: 20,867,820 (GRCm39)	F78L	probably benign	Het
Vmn1r75	A	T	7: 11,614,915 (GRCm39)	K216*	probably null	Het
Vmn2r11	A	T	5: 109,201,281 (GRCm39)	Y408N	probably damaging	Het
Wscd1	T	A	11: 71,679,543 (GRCm39)	V472D	probably damaging	Het
Zdbf2	G	T	1: 63,345,664 (GRCm39)	V1348F	possibly damaging	Het
Zfp442	G	T	2: 150,250,056 (GRCm39)	H615Q	possibly damaging	Het
Zfp457	C	A	13: 67,442,065 (GRCm39)	C170F	possibly damaging	Het
Zscan10	A	G	17: 23,826,003 (GRCm39)		probably null	Het

Other mutations in Tdrd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01651:Tdrd5	APN	1	156,129,397 (GRCm39)	missense	probably benign	0.32
IGL02441:Tdrd5	APN	1	156,087,513 (GRCm39)	splice site	probably benign
IGL02932:Tdrd5	APN	1	156,098,190 (GRCm39)	missense	possibly damaging	0.52
R0049:Tdrd5	UTSW	1	156,129,473 (GRCm39)	missense	probably damaging	1.00
R0416:Tdrd5	UTSW	1	156,113,051 (GRCm39)	missense	probably damaging	0.96
R0518:Tdrd5	UTSW	1	156,090,511 (GRCm39)	missense	probably damaging	0.99
R1439:Tdrd5	UTSW	1	156,105,057 (GRCm39)	missense	probably damaging	1.00
R1454:Tdrd5	UTSW	1	156,087,406 (GRCm39)	missense	probably benign	0.41
R1497:Tdrd5	UTSW	1	156,083,372 (GRCm39)	missense	probably benign	0.28
R1774:Tdrd5	UTSW	1	156,105,079 (GRCm39)	missense	probably damaging	1.00
R2101:Tdrd5	UTSW	1	156,129,209 (GRCm39)	missense	probably damaging	1.00
R2125:Tdrd5	UTSW	1	156,104,143 (GRCm39)	missense	probably damaging	0.99
R2126:Tdrd5	UTSW	1	156,104,143 (GRCm39)	missense	probably damaging	0.99
R2197:Tdrd5	UTSW	1	156,087,435 (GRCm39)	missense	probably benign	0.02
R3820:Tdrd5	UTSW	1	156,113,053 (GRCm39)	missense	probably benign	0.16
R3928:Tdrd5	UTSW	1	156,128,348 (GRCm39)	missense	probably benign	0.06
R4258:Tdrd5	UTSW	1	156,087,312 (GRCm39)	missense	probably benign	0.00
R4502:Tdrd5	UTSW	1	156,128,334 (GRCm39)	missense	probably benign	0.00
R4601:Tdrd5	UTSW	1	156,111,944 (GRCm39)	missense	probably benign	0.12
R4602:Tdrd5	UTSW	1	156,111,944 (GRCm39)	missense	probably benign	0.12
R4610:Tdrd5	UTSW	1	156,111,944 (GRCm39)	missense	probably benign	0.12
R4611:Tdrd5	UTSW	1	156,111,944 (GRCm39)	missense	probably benign	0.12
R4674:Tdrd5	UTSW	1	156,105,005 (GRCm39)	missense	probably damaging	1.00
R4722:Tdrd5	UTSW	1	156,129,945 (GRCm39)	missense	probably benign	0.31
R4778:Tdrd5	UTSW	1	156,083,157 (GRCm39)	missense	probably damaging	0.98
R5737:Tdrd5	UTSW	1	156,128,294 (GRCm39)	missense	probably benign	0.01
R5881:Tdrd5	UTSW	1	156,122,070 (GRCm39)	missense	probably damaging	0.98
R5900:Tdrd5	UTSW	1	156,105,005 (GRCm39)	nonsense	probably null
R6234:Tdrd5	UTSW	1	156,120,947 (GRCm39)	missense	possibly damaging	0.93
R6557:Tdrd5	UTSW	1	156,128,291 (GRCm39)	missense	probably benign	0.10
R7068:Tdrd5	UTSW	1	156,111,841 (GRCm39)	missense	probably damaging	1.00
R7199:Tdrd5	UTSW	1	156,129,293 (GRCm39)	missense	probably damaging	0.98
R7432:Tdrd5	UTSW	1	156,130,002 (GRCm39)	missense	probably damaging	1.00
R7469:Tdrd5	UTSW	1	156,090,475 (GRCm39)	missense	probably benign	0.00
R8030:Tdrd5	UTSW	1	156,098,165 (GRCm39)	nonsense	probably null
R8323:Tdrd5	UTSW	1	156,094,832 (GRCm39)	missense	possibly damaging	0.63
R8680:Tdrd5	UTSW	1	156,098,788 (GRCm39)	missense	possibly damaging	0.49
R9282:Tdrd5	UTSW	1	156,105,030 (GRCm39)	missense	probably benign	0.01
X0026:Tdrd5	UTSW	1	156,112,997 (GRCm39)	missense	probably benign	0.01
Z1176:Tdrd5	UTSW	1	156,083,269 (GRCm39)	missense	probably damaging	1.00
Z1177:Tdrd5	UTSW	1	156,130,158 (GRCm39)	missense	probably damaging	1.00
Z1177:Tdrd5	UTSW	1	156,130,156 (GRCm39)	missense	possibly damaging	0.95
Z1177:Tdrd5	UTSW	1	156,083,199 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTGGAGAGTCACCCACTG -3'
(R):5'- TTTAACACTGGTCAATGGCGGG -3'

Sequencing Primer
(F):5'- CACTGCAGGGGTTGAACTG -3'
(R):5'- GGGTAGCCCTCAGTACCATACTTG -3'

Posted On

2019-06-26