Mutagenetix > Incidental Mutation

Incidental Mutation 'R2126:Tdrd5'

229834

Institutional Source

Beutler Lab

Gene Symbol

Tdrd5

Ensembl Gene

ENSMUSG00000060985

Gene Name

tudor domain containing 5

Synonyms

MMRRC Submission

040129-MU

Accession Numbers

Essential gene?

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

Stock #

R2126 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156082866-156131234 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 156104143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 528 (R528G)

Ref Sequence

ENSEMBL: ENSMUSP00000137182 (fasta)

Gene Model

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

AlphaFold

Q5VCS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000121146
AA Change: R605G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137298
Gene: ENSMUSG00000060985
AA Change: R605G

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

noncoding transcript
Transcript: ENSMUST00000148277

Predicted Effect

probably damaging
Transcript: ENSMUST00000167528
AA Change: R528G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137182
Gene: ENSMUSG00000060985
AA Change: R528G

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 59,947,066 (GRCm39)	T255A	possibly damaging	Het
Acat3	C	T	17: 13,146,294 (GRCm39)	A230T	probably benign	Het
Acsl1	C	A	8: 46,986,663 (GRCm39)	P650Q	probably benign	Het
Adgrl3	T	A	5: 81,660,383 (GRCm39)	I316N	probably damaging	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
AI429214	T	A	8: 37,461,362 (GRCm39)	V170E	probably benign	Het
Akap13	G	A	7: 75,375,052 (GRCm39)	G1895S	possibly damaging	Het
Alpk2	G	A	18: 65,483,439 (GRCm39)	Q190*	probably null	Het
Aox3	C	A	1: 58,197,375 (GRCm39)	Q574K	probably benign	Het
Apeh	A	G	9: 107,962,866 (GRCm39)	Y702H	probably damaging	Het
Aqp11	A	G	7: 97,386,692 (GRCm39)	I151T	probably benign	Het
Arhgap28	A	G	17: 68,176,010 (GRCm39)	V363A	possibly damaging	Het
Arhgef18	A	G	8: 3,501,939 (GRCm39)	N699S	probably damaging	Het
Asnsd1	A	G	1: 53,386,476 (GRCm39)	S384P	probably benign	Het
Atl1	G	T	12: 69,978,431 (GRCm39)		probably null	Het
Atp13a2	A	T	4: 140,722,702 (GRCm39)	D203V	possibly damaging	Het
Axdnd1	A	T	1: 156,160,784 (GRCm39)	N164K	probably benign	Het
Bnipl	T	A	3: 95,152,994 (GRCm39)	I162F	probably damaging	Het
Cacna1d	A	T	14: 29,845,120 (GRCm39)	L655I	probably damaging	Het
Canx	T	C	11: 50,195,185 (GRCm39)	I294M	probably damaging	Het
Casz1	T	C	4: 149,030,521 (GRCm39)	F1180S	probably damaging	Het
Cav3	T	C	6: 112,449,344 (GRCm39)	Y121H	probably benign	Het
Cd4	A	C	6: 124,847,499 (GRCm39)	S222A	probably benign	Het
Cds1	T	C	5: 101,960,416 (GRCm39)	I289T	probably benign	Het
Cep112	T	C	11: 108,399,084 (GRCm39)	F328L	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Cfap44	A	T	16: 44,230,838 (GRCm39)	D273V	probably benign	Het
Cfap91	T	C	16: 38,162,124 (GRCm39)	T6A	probably benign	Het
Clec7a	C	T	6: 129,447,918 (GRCm39)	G49D	probably benign	Het
Col22a1	G	A	15: 71,729,102 (GRCm39)	Q599*	probably null	Het
Col6a5	T	A	9: 105,822,799 (GRCm39)	H186L	unknown	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dnah12	A	T	14: 26,445,613 (GRCm39)	R725*	probably null	Het
Dnajc10	G	A	2: 80,181,078 (GRCm39)		probably null	Het
Edem3	A	T	1: 151,670,482 (GRCm39)	H337L	possibly damaging	Het
Eif2ak4	A	T	2: 118,252,604 (GRCm39)	H392L	probably benign	Het
Ercc6l2	G	A	13: 63,996,585 (GRCm39)	V365I	probably damaging	Het
Fan1	T	C	7: 63,996,636 (GRCm39)	E978G	probably damaging	Het
Fcrl6	C	T	1: 172,426,815 (GRCm39)	V44M	probably benign	Het
Gaa	G	A	11: 119,161,108 (GRCm39)	W50*	probably null	Het
Gm10032	T	C	14: 67,030,227 (GRCm39)		noncoding transcript	Het
Gm10985	CTCTAT	CT	3: 53,752,670 (GRCm39)		probably null	Het
Gprc5b	G	T	7: 118,583,398 (GRCm39)	P157Q	probably damaging	Het
Gsdmc3	G	A	15: 63,730,383 (GRCm39)	Q394*	probably null	Het
Gucd1	A	G	10: 75,347,922 (GRCm39)	S38P	probably damaging	Het
Higd1a	A	T	9: 121,679,313 (GRCm39)	I58N	probably damaging	Het
Hmx3	G	C	7: 131,146,278 (GRCm39)	V329L	possibly damaging	Het
Hnrnpul2	A	T	19: 8,801,802 (GRCm39)	R337*	probably null	Het
Idua	T	A	5: 108,829,304 (GRCm39)	H368Q	possibly damaging	Het
Ifih1	A	G	2: 62,453,811 (GRCm39)	V218A	probably benign	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Kif1b	G	A	4: 149,272,097 (GRCm39)	S1568L	possibly damaging	Het
Klhl30	T	A	1: 91,286,499 (GRCm39)		probably null	Het
Lasp1	T	A	11: 97,726,960 (GRCm39)	D227E	probably benign	Het
Lhx6	A	G	2: 35,981,336 (GRCm39)	I85T	possibly damaging	Het
Limch1	A	G	5: 67,187,103 (GRCm39)	D840G	probably damaging	Het
Loxl4	C	G	19: 42,592,402 (GRCm39)	E385D	probably damaging	Het
Lrrtm4	A	T	6: 79,998,722 (GRCm39)	I44F	probably damaging	Het
Ltbp2	T	C	12: 84,832,483 (GRCm39)		probably null	Het
Lyg1	T	C	1: 37,989,755 (GRCm39)	Y44C	probably damaging	Het
Map1a	A	G	2: 121,129,122 (GRCm39)	I129V	probably damaging	Het
Med27	C	T	2: 29,414,442 (GRCm39)	Q150*	probably null	Het
Ms4a5	A	T	19: 11,256,732 (GRCm39)	I55N	probably damaging	Het
Muc5ac	T	C	7: 141,364,479 (GRCm39)	S2597P	possibly damaging	Het
Mxd1	A	C	6: 86,628,422 (GRCm39)		probably null	Het
Myo3a	A	G	2: 22,468,186 (GRCm39)	D480G	probably benign	Het
Neb	T	C	2: 52,200,650 (GRCm39)	Y343C	probably damaging	Het
Niban1	A	C	1: 151,571,886 (GRCm39)	E277A	probably damaging	Het
Niban1	A	G	1: 151,584,884 (GRCm39)	I494V	possibly damaging	Het
Nrn1	A	C	13: 36,914,180 (GRCm39)	V34G	probably damaging	Het
Or4k52	A	G	2: 111,610,841 (GRCm39)	M59V	probably damaging	Het
Or4n5	A	G	14: 50,132,524 (GRCm39)	I245T	probably benign	Het
Or52b1	C	T	7: 104,978,459 (GRCm39)	W313*	probably null	Het
Or56a3	A	G	7: 104,735,822 (GRCm39)	T300A	probably damaging	Het
Or8b39	G	T	9: 37,996,572 (GRCm39)	V147L	probably benign	Het
Or8h9	T	C	2: 86,789,442 (GRCm39)	Y120C	possibly damaging	Het
Or8k40	A	T	2: 86,584,796 (GRCm39)	N95K	probably benign	Het
Pdia4	A	T	6: 47,773,771 (GRCm39)	V526E	probably damaging	Het
Pdia6	T	C	12: 17,328,546 (GRCm39)	V167A	probably damaging	Het
Pgk2	A	G	17: 40,518,400 (GRCm39)	F343L	probably damaging	Het
Piwil1	T	C	5: 128,831,160 (GRCm39)	V827A	probably damaging	Het
Plag1	A	T	4: 3,904,169 (GRCm39)	Y341N	possibly damaging	Het
Plch2	T	C	4: 155,083,456 (GRCm39)	E393G	probably damaging	Het
Ptprg	T	A	14: 12,154,355 (GRCm38)	M692K	probably benign	Het
Rassf8	G	A	6: 145,760,908 (GRCm39)	R78H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,341,027 (GRCm39)	Q3556R	probably damaging	Het
Rpa2	T	C	4: 132,496,099 (GRCm39)		probably null	Het
Rpe	T	G	1: 66,755,139 (GRCm39)	F174V	possibly damaging	Het
Sbf2	T	C	7: 110,159,502 (GRCm39)	D36G	probably damaging	Het
Scn2a	T	A	2: 65,582,423 (GRCm39)	Y1590*	probably null	Het
Slc24a4	T	C	12: 102,189,018 (GRCm39)	V151A	probably damaging	Het
Slc30a8	A	T	15: 52,159,330 (GRCm39)	M17L	probably benign	Het
Slit3	T	C	11: 35,579,506 (GRCm39)	Y1228H	probably damaging	Het
Smad4	G	A	18: 73,795,815 (GRCm39)	T193M	probably benign	Het
Smtn	T	A	11: 3,480,045 (GRCm39)	H392L	probably benign	Het
St8sia3	A	G	18: 64,402,745 (GRCm39)	D128G	probably damaging	Het
Sucla2	A	T	14: 73,830,108 (GRCm39)	M382L	possibly damaging	Het
Tbx5	A	G	5: 119,974,988 (GRCm39)	T4A	probably benign	Het
Tex44	T	C	1: 86,354,811 (GRCm39)	L240P	probably benign	Het
Tns4	A	T	11: 98,970,904 (GRCm39)		probably null	Het
Trappc10	A	T	10: 78,039,758 (GRCm39)	V731E	possibly damaging	Het
Ttf1	A	G	2: 28,961,357 (GRCm39)	K582E	probably damaging	Het
Ttf2	C	A	3: 100,855,509 (GRCm39)	Q895H	possibly damaging	Het
Ttll6	A	G	11: 96,038,358 (GRCm39)	E402G	probably damaging	Het
Ttn	A	T	2: 76,720,436 (GRCm39)		probably null	Het
Ugt8a	T	C	3: 125,669,195 (GRCm39)	D303G	probably damaging	Het
Ulk1	G	T	5: 110,940,302 (GRCm39)	A373D	probably benign	Het
Vmn2r13	A	G	5: 109,306,058 (GRCm39)	S507P	probably benign	Het
Vmn2r19	T	A	6: 123,293,033 (GRCm39)	D358E	possibly damaging	Het
Vmn2r88	T	C	14: 51,651,264 (GRCm39)	S201P	probably benign	Het
Zfp36l2	A	G	17: 84,494,403 (GRCm39)	F78S	probably damaging	Het
Zfp454	A	C	11: 50,764,822 (GRCm39)	S203R	probably benign	Het
Zfp616	C	A	11: 73,976,229 (GRCm39)	Q833K	probably benign	Het
Znhit2	A	G	19: 6,112,091 (GRCm39)	T279A	probably benign	Het
Zswim3	T	A	2: 164,661,913 (GRCm39)	I131N	probably benign	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
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
R7184:Tdrd5	UTSW	1	156,087,505 (GRCm39)	missense	probably benign	0.30
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'- TCTCATTAGGACACAATGCCC -3'
(R):5'- TGAATGGTTCCTTCTGGAGC -3'

Sequencing Primer
(F):5'- TTAGGACACAATGCCCCTGCTG -3'
(R):5'- CTACATGGTTCTCTTGAAAAACGTAC -3'

Posted On

2014-09-17