Mutagenetix > Incidental Mutation

Incidental Mutation 'R0049:Tdrd7'

40866

Institutional Source

Beutler Lab

Gene Symbol

Tdrd7

Ensembl Gene

ENSMUSG00000035517

Gene Name

tudor domain containing 7

Synonyms

5730495N10Rik

MMRRC Submission

038343-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.540) question?

Stock #

R0049 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45965334-46034761 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45987582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 72 (I72V)

Ref Sequence

ENSEMBL: ENSMUSP00000103406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102929] [ENSMUST00000107777]

AlphaFold

Q8K1H1

Predicted Effect

probably damaging
Transcript: ENSMUST00000102929
AA Change: I39V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099993
Gene: ENSMUSG00000035517
AA Change: I39V

Domain	Start	End	E-Value	Type
Pfam:OST-HTH	3	73	2.6e-10	PFAM
internal_repeat_1	223	300	2.94e-9	PROSPERO
low complexity region	302	318	N/A	INTRINSIC
internal_repeat_1	326	400	2.94e-9	PROSPERO
TUDOR	500	556	2.08e-5	SMART
TUDOR	690	746	1.66e-4	SMART
TUDOR	945	1001	4.03e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107777
AA Change: I72V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103406
Gene: ENSMUSG00000035517
AA Change: I72V

Domain	Start	End	E-Value	Type
Pfam:OST-HTH	36	106	5.7e-11	PFAM
internal_repeat_1	256	333	3.1e-9	PROSPERO
low complexity region	335	351	N/A	INTRINSIC
internal_repeat_1	359	433	3.1e-9	PROSPERO
TUDOR	533	589	2.08e-5	SMART
TUDOR	723	779	1.66e-4	SMART
TUDOR	978	1034	4.03e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151422

Meta Mutation Damage Score

0.3137

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (114/115)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Tudor family of proteins. This protein contains conserved Tudor domains and LOTUS domains. It is a component of RNA granules, which function in RNA processing. Mutations in this gene have been associated with cataract formation in mouse and human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous inactivation of this gene causes arrest of spermatogenesis, male sterility, glaucoma, and cataracts. Aging mice homozygous for an ENU-induced (null) allele show additional ocular phenotypes including an enlarged anterior chamber, lens extrusion, a flat iris, uveitis, and optic neuropathy. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,615,267 (GRCm39)	H9L	possibly damaging	Het
Aars1	T	A	8: 111,779,083 (GRCm39)	I739K	possibly damaging	Het
Abcb1b	T	A	5: 8,875,661 (GRCm39)	H611Q	probably damaging	Het
Acod1	T	A	14: 103,292,643 (GRCm39)	I389K	possibly damaging	Het
Adgre1	T	A	17: 57,709,841 (GRCm39)	L166*	probably null	Het
Akap1	C	A	11: 88,730,450 (GRCm39)		probably null	Het
Akna	T	A	4: 63,312,872 (GRCm39)	Q417L	probably damaging	Het
Anxa7	T	C	14: 20,512,678 (GRCm39)	D285G	probably damaging	Het
Arhgap1	T	C	2: 91,500,514 (GRCm39)	Y308H	probably damaging	Het
Arhgef10	A	C	8: 15,004,446 (GRCm39)	R360S	probably damaging	Het
Arhgef11	T	A	3: 87,636,500 (GRCm39)		probably null	Het
Arid3a	A	G	10: 79,766,899 (GRCm39)	T58A	possibly damaging	Het
Atosb	A	T	4: 43,036,441 (GRCm39)	S97T	probably benign	Het
Atp6v0a4	G	A	6: 38,059,016 (GRCm39)	R256C	probably damaging	Het
Camsap3	C	A	8: 3,648,772 (GRCm39)	S163R	probably benign	Het
Ccdc110	A	T	8: 46,395,663 (GRCm39)	E518V	probably damaging	Het
Ccdc180	G	A	4: 45,930,119 (GRCm39)		probably null	Het
Ccnt1	T	C	15: 98,462,960 (GRCm39)	M71V	probably benign	Het
Celsr2	T	A	3: 108,304,570 (GRCm39)	Y2263F	probably benign	Het
Cfap36	A	T	11: 29,196,514 (GRCm39)		probably null	Het
Cfap69	T	C	5: 5,663,734 (GRCm39)	T498A	probably benign	Het
Chadl	T	C	15: 81,578,213 (GRCm39)	D6G	probably benign	Het
Clstn3	T	A	6: 124,436,812 (GRCm39)	I132F	possibly damaging	Het
Cnot4	A	G	6: 35,028,212 (GRCm39)	V468A	probably benign	Het
Crmp1	T	G	5: 37,422,617 (GRCm39)	D141E	possibly damaging	Het
Crtc1	A	G	8: 70,844,509 (GRCm39)		probably null	Het
Cryz	C	A	3: 154,317,189 (GRCm39)	A136D	probably damaging	Het
Dph6	A	G	2: 114,353,525 (GRCm39)	V221A	probably benign	Het
Dst	A	T	1: 34,314,862 (GRCm39)	N4267Y	probably damaging	Het
Duox2	T	A	2: 122,127,167 (GRCm39)	D170V	possibly damaging	Het
Ecm2	A	T	13: 49,677,922 (GRCm39)	K403*	probably null	Het
Eif3d	T	C	15: 77,843,924 (GRCm39)	N474S	probably benign	Het
Elf1	T	C	14: 79,802,965 (GRCm39)	L106P	probably damaging	Het
Exoc4	G	C	6: 33,273,857 (GRCm39)		probably null	Het
F12	T	C	13: 55,574,130 (GRCm39)	D34G	probably benign	Het
Fam228b	A	T	12: 4,798,117 (GRCm39)	F200Y	probably damaging	Het
Fgl2	T	A	5: 21,580,661 (GRCm39)	D334E	possibly damaging	Het
Fras1	T	A	5: 96,924,481 (GRCm39)	F3641I	probably benign	Het
Gabrb2	T	G	11: 42,484,674 (GRCm39)	Y244D	probably damaging	Het
Gcc1	A	T	6: 28,421,268 (GRCm39)	D16E	probably benign	Het
Gga3	C	A	11: 115,477,915 (GRCm39)	G558*	probably null	Het
Glt1d1	T	C	5: 127,740,391 (GRCm39)		probably benign	Het
Gorasp2	T	C	2: 70,521,067 (GRCm39)	S346P	possibly damaging	Het
Hcn4	T	C	9: 58,767,582 (GRCm39)	S1048P	probably damaging	Het
Henmt1	T	A	3: 108,861,105 (GRCm39)		probably benign	Het
Htt	A	C	5: 35,066,006 (GRCm39)	K3060N	probably damaging	Het
Ibsp	C	T	5: 104,450,024 (GRCm39)	L8F	probably damaging	Het
Kif27	A	T	13: 58,451,378 (GRCm39)	D983E	probably damaging	Het
Kif3a	T	A	11: 53,481,560 (GRCm39)		probably benign	Het
Kif3c	A	C	12: 3,417,090 (GRCm39)	K370N	possibly damaging	Het
Loxhd1	T	C	18: 77,468,256 (GRCm39)		probably benign	Het
Maz	A	T	7: 126,623,758 (GRCm39)	D74E	probably damaging	Het
Med21	T	C	6: 146,551,732 (GRCm39)	S128P	probably damaging	Het
Mms19	A	C	19: 41,943,607 (GRCm39)	M374R	probably damaging	Het
Mprip	T	C	11: 59,657,571 (GRCm39)	V801A	probably damaging	Het
Mrpl3	T	C	9: 104,932,872 (GRCm39)	V111A	probably benign	Het
Mtfr2	T	A	10: 20,224,158 (GRCm39)	Y31N	probably damaging	Het
Myh3	C	T	11: 66,990,498 (GRCm39)	R1677C	probably damaging	Het
Mynn	T	A	3: 30,661,230 (GRCm39)	*61K	probably null	Het
Neb	A	C	2: 52,060,479 (GRCm39)	M2286R	possibly damaging	Het
Ngf	A	T	3: 102,427,661 (GRCm39)	R137*	probably null	Het
Nr1i3	T	A	1: 171,041,982 (GRCm39)	V22E	probably damaging	Het
Nxpe5	T	C	5: 138,249,566 (GRCm39)	V452A	probably damaging	Het
Oas1e	C	A	5: 120,933,395 (GRCm39)	A57S	probably benign	Het
Or11g27	A	T	14: 50,771,151 (GRCm39)	K94M	probably damaging	Het
Or14j10	T	A	17: 37,935,024 (GRCm39)	R167S	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Pax3	A	G	1: 78,080,141 (GRCm39)	L415P	probably damaging	Het
Pcnt	G	T	10: 76,205,655 (GRCm39)		probably benign	Het
Peg3	G	T	7: 6,714,672 (GRCm39)	D183E	possibly damaging	Het
Pglyrp1	G	T	7: 18,623,313 (GRCm39)	G120V	probably damaging	Het
Pnp2	T	A	14: 51,196,990 (GRCm39)	Y25*	probably null	Het
Pomt1	T	A	2: 32,142,023 (GRCm39)	H584Q	possibly damaging	Het
Ppp1r12a	A	G	10: 108,089,193 (GRCm39)	N611D	possibly damaging	Het
Prkcq	G	A	2: 11,288,643 (GRCm39)	G532E	probably benign	Het
Prl6a1	A	T	13: 27,501,980 (GRCm39)	I116F	probably damaging	Het
Ptprh	T	A	7: 4,576,361 (GRCm39)	T300S	possibly damaging	Het
Pwp1	A	G	10: 85,721,480 (GRCm39)	T361A	possibly damaging	Het
Rab4a	A	T	8: 124,554,081 (GRCm39)	H5L	probably damaging	Het
Raet1e	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Ramp1	T	C	1: 91,124,592 (GRCm39)	I51T	possibly damaging	Het
Raph1	G	T	1: 60,565,058 (GRCm39)	T143K	probably benign	Het
Rhpn1	A	G	15: 75,581,088 (GRCm39)	E110G	possibly damaging	Het
Rnf168	A	T	16: 32,117,287 (GRCm39)	T283S	possibly damaging	Het
Ros1	T	A	10: 51,977,857 (GRCm39)	Y1463F	possibly damaging	Het
Rtn4ip1	A	G	10: 43,797,430 (GRCm39)	Q223R	probably null	Het
Rtp4	G	T	16: 23,431,679 (GRCm39)	M70I	probably benign	Het
Sag	C	A	1: 87,762,340 (GRCm39)	T335K	probably damaging	Het
Satb1	T	A	17: 52,047,374 (GRCm39)	Q647L	probably benign	Het
Sec31b	T	C	19: 44,508,847 (GRCm39)		probably benign	Het
Sgo1	C	T	17: 53,986,691 (GRCm39)	D167N	probably damaging	Het
Slco1a8	T	C	6: 141,936,147 (GRCm39)	T313A	probably benign	Het
Smchd1	T	C	17: 71,738,231 (GRCm39)	I545V	probably benign	Het
St6gal1	G	T	16: 23,139,891 (GRCm39)	A21S	probably damaging	Het
Stard9	C	A	2: 120,530,300 (GRCm39)	L2186I	probably damaging	Het
Sun2	T	A	15: 79,611,810 (GRCm39)		probably benign	Het
Taf4	G	A	2: 179,565,884 (GRCm39)	T849M	probably damaging	Het
Tdrd5	A	T	1: 156,129,473 (GRCm39)	I79N	probably damaging	Het
Tnxb	T	A	17: 34,928,542 (GRCm39)	V2652E	possibly damaging	Het
Trim30a	C	T	7: 104,078,559 (GRCm39)		probably null	Het
Tshz3	A	G	7: 36,469,534 (GRCm39)	T508A	probably damaging	Het
Ttc21b	A	G	2: 66,053,908 (GRCm39)	L757P	probably damaging	Het
Ubtd2	A	C	11: 32,449,223 (GRCm39)		probably null	Het
Ubtd2	G	T	11: 32,449,224 (GRCm39)		probably null	Het
Vmn1r218	C	T	13: 23,321,225 (GRCm39)	Q111*	probably null	Het
Vmn2r75	G	A	7: 85,797,309 (GRCm39)	Q835*	probably null	Het
Vwa8	T	A	14: 79,331,179 (GRCm39)	M1229K	probably benign	Het
Wdr76	C	T	2: 121,349,932 (GRCm39)	R111C	probably damaging	Het
Xcr1	T	A	9: 123,684,940 (GRCm39)	D274V	possibly damaging	Het
Ypel5	C	T	17: 73,153,332 (GRCm39)	T12I	probably benign	Het

Other mutations in Tdrd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Tdrd7	APN	4	46,010,889 (GRCm39)	missense	probably damaging	1.00
IGL01541:Tdrd7	APN	4	46,018,551 (GRCm39)	missense	possibly damaging	0.90
IGL01901:Tdrd7	APN	4	45,989,225 (GRCm39)	splice site	probably benign
IGL02812:Tdrd7	APN	4	45,994,406 (GRCm39)	missense	probably benign	0.08
A5278:Tdrd7	UTSW	4	46,007,622 (GRCm39)	missense	probably benign	0.01
R0049:Tdrd7	UTSW	4	45,987,582 (GRCm39)	missense	probably damaging	1.00
R0389:Tdrd7	UTSW	4	46,016,987 (GRCm39)	missense	probably benign	0.01
R0452:Tdrd7	UTSW	4	45,965,488 (GRCm39)	splice site	probably benign
R0639:Tdrd7	UTSW	4	45,989,102 (GRCm39)	missense	probably benign	0.00
R0681:Tdrd7	UTSW	4	46,016,879 (GRCm39)	missense	probably benign	0.45
R0925:Tdrd7	UTSW	4	46,025,758 (GRCm39)	missense	probably damaging	1.00
R0944:Tdrd7	UTSW	4	46,029,762 (GRCm39)	missense	probably benign	0.01
R1586:Tdrd7	UTSW	4	45,994,445 (GRCm39)	missense	probably benign	0.39
R1770:Tdrd7	UTSW	4	45,987,681 (GRCm39)	splice site	probably benign
R1945:Tdrd7	UTSW	4	45,965,474 (GRCm39)	missense	probably benign	0.00
R4400:Tdrd7	UTSW	4	46,005,540 (GRCm39)	missense	possibly damaging	0.87
R4457:Tdrd7	UTSW	4	46,007,526 (GRCm39)	missense	probably benign	0.04
R4898:Tdrd7	UTSW	4	46,005,616 (GRCm39)	missense	possibly damaging	0.94
R5152:Tdrd7	UTSW	4	46,013,191 (GRCm39)	missense	probably damaging	1.00
R5197:Tdrd7	UTSW	4	46,034,350 (GRCm39)	missense	probably damaging	1.00
R5326:Tdrd7	UTSW	4	46,029,757 (GRCm39)	missense	probably benign	0.01
R5473:Tdrd7	UTSW	4	46,020,877 (GRCm39)	missense	possibly damaging	0.95
R5524:Tdrd7	UTSW	4	46,034,301 (GRCm39)	missense	probably benign	0.31
R5542:Tdrd7	UTSW	4	46,029,757 (GRCm39)	missense	probably benign	0.01
R5554:Tdrd7	UTSW	4	46,005,358 (GRCm39)	missense	possibly damaging	0.92
R5588:Tdrd7	UTSW	4	45,992,225 (GRCm39)	missense	probably benign	0.18
R5776:Tdrd7	UTSW	4	46,005,689 (GRCm39)	missense	probably benign	0.00
R5786:Tdrd7	UTSW	4	45,989,082 (GRCm39)	missense	probably benign	0.09
R6063:Tdrd7	UTSW	4	46,005,486 (GRCm39)	missense	probably benign	0.00
R6340:Tdrd7	UTSW	4	45,994,517 (GRCm39)	missense	probably damaging	0.99
R7130:Tdrd7	UTSW	4	46,029,693 (GRCm39)	missense	probably damaging	1.00
R7369:Tdrd7	UTSW	4	46,013,239 (GRCm39)	missense	possibly damaging	0.79
R7470:Tdrd7	UTSW	4	45,990,144 (GRCm39)	missense	probably benign	0.32
R7876:Tdrd7	UTSW	4	46,025,684 (GRCm39)	missense	probably benign
R7999:Tdrd7	UTSW	4	46,010,902 (GRCm39)	critical splice donor site	probably null
R8042:Tdrd7	UTSW	4	45,987,516 (GRCm39)	missense	possibly damaging	0.71
R8058:Tdrd7	UTSW	4	46,034,309 (GRCm39)	missense	probably benign	0.34
R8532:Tdrd7	UTSW	4	46,016,920 (GRCm39)	missense	probably damaging	0.98
R8771:Tdrd7	UTSW	4	46,010,800 (GRCm39)	missense	probably damaging	1.00
R8836:Tdrd7	UTSW	4	45,987,570 (GRCm39)	missense	probably damaging	1.00
R9033:Tdrd7	UTSW	4	46,007,468 (GRCm39)	missense	probably damaging	1.00
R9313:Tdrd7	UTSW	4	46,005,319 (GRCm39)	missense	probably benign	0.00
R9390:Tdrd7	UTSW	4	46,005,416 (GRCm39)	missense	probably damaging	1.00
R9683:Tdrd7	UTSW	4	46,025,946 (GRCm39)	missense	probably damaging	0.99
R9696:Tdrd7	UTSW	4	46,016,888 (GRCm39)	missense	possibly damaging	0.60
R9745:Tdrd7	UTSW	4	45,994,310 (GRCm39)	missense	possibly damaging	0.93
X0063:Tdrd7	UTSW	4	45,992,268 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTTATCCCACAGGAGACCTCCAG -3'
(R):5'- TGAACCTTGAGTGTGCTGTCACTG -3'

Sequencing Primer
(F):5'- AGCACTCATTTGTGGCACAATC -3'
(R):5'- GTGTGTGCTTTTCTTataccagag -3'

Posted On

2013-05-23