Mutagenetix > Incidental Mutation

Incidental Mutation 'R0389:Tdrd7'

31455

Institutional Source

Beutler Lab

Gene Symbol

Tdrd7

Ensembl Gene

ENSMUSG00000035517

Gene Name

tudor domain containing 7

Synonyms

5730495N10Rik

MMRRC Submission

038595-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.478) question?

Stock #

R0389 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45965334-46034761 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46016987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 709 (D709G)

Ref Sequence

ENSEMBL: ENSMUSP00000103406 (fasta)

Gene Model

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

AlphaFold

Q8K1H1

Predicted Effect

probably benign
Transcript: ENSMUST00000102929
AA Change: D676G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000099993
Gene: ENSMUSG00000035517
AA Change: D676G

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 benign
Transcript: ENSMUST00000107777
AA Change: D709G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000103406
Gene: ENSMUSG00000035517
AA Change: D709G

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

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 91.5%

Validation Efficiency

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	G	A	3: 121,465,053 (GRCm39)	E30K	unknown	Het
Abi3bp	A	T	16: 56,491,670 (GRCm39)	T1319S	possibly damaging	Het
Adam18	T	C	8: 25,119,653 (GRCm39)		probably null	Het
Adgre1	G	A	17: 57,713,839 (GRCm39)	D175N	possibly damaging	Het
Adgrf1	T	C	17: 43,614,679 (GRCm39)		probably null	Het
Ankhd1	A	G	18: 36,777,652 (GRCm39)	S1612G	possibly damaging	Het
Anks1	A	G	17: 28,214,926 (GRCm39)	R458G	possibly damaging	Het
Cacna1g	C	T	11: 94,350,523 (GRCm39)	V441M	probably damaging	Het
Cadps2	A	T	6: 23,321,781 (GRCm39)	V1037E	possibly damaging	Het
Casz1	T	C	4: 149,033,368 (GRCm39)	V1380A	possibly damaging	Het
Cenpq	T	C	17: 41,244,085 (GRCm39)		probably benign	Het
Chrac1	T	C	15: 72,965,376 (GRCm39)	I93T	possibly damaging	Het
Cntnap2	T	A	6: 45,986,571 (GRCm39)	S359T	probably benign	Het
Col6a6	C	A	9: 105,661,403 (GRCm39)	M235I	probably benign	Het
Crat	T	C	2: 30,293,640 (GRCm39)		probably benign	Het
Cyp1a2	T	C	9: 57,589,308 (GRCm39)	N169D	probably benign	Het
Dennd1c	T	A	17: 57,374,649 (GRCm39)	T499S	probably benign	Het
Dst	A	G	1: 34,333,631 (GRCm39)		probably null	Het
Dync2h1	G	T	9: 7,167,244 (GRCm39)		probably null	Het
Eif3h	C	A	15: 51,662,660 (GRCm39)	V129F	probably damaging	Het
Eno2	A	G	6: 124,739,654 (GRCm39)	F380L	probably damaging	Het
Ergic2	T	A	6: 148,084,700 (GRCm39)	I34F	probably benign	Het
Ergic3	G	A	2: 155,858,707 (GRCm39)	V278M	probably benign	Het
Fam185a	C	T	5: 21,664,283 (GRCm39)	T339M	probably damaging	Het
Fam20b	A	T	1: 156,509,023 (GRCm39)	D396E	probably benign	Het
Fasn	G	T	11: 120,707,008 (GRCm39)	D881E	probably damaging	Het
Fat1	C	A	8: 45,403,385 (GRCm39)	H45Q	probably benign	Het
Fbxw16	A	T	9: 109,261,550 (GRCm39)	C439S	probably benign	Het
Garin1a	T	A	6: 29,281,391 (GRCm39)	V43E	possibly damaging	Het
Gba2	A	T	4: 43,570,832 (GRCm39)	F280Y	probably damaging	Het
Gfm1	A	G	3: 67,365,251 (GRCm39)	I517V	probably benign	Het
Gng13	C	T	17: 25,937,696 (GRCm39)	Q8*	probably null	Het
Golga1	A	T	2: 38,908,453 (GRCm39)	S749T	probably damaging	Het
Gphn	A	T	12: 78,637,433 (GRCm39)	I381F	probably damaging	Het
Grm3	T	C	5: 9,554,794 (GRCm39)	N833D	probably damaging	Het
Gstt2	G	T	10: 75,668,266 (GRCm39)	T163K	probably damaging	Het
Gusb	A	T	5: 130,026,927 (GRCm39)	V388E	probably damaging	Het
Hcrtr2	A	T	9: 76,153,662 (GRCm39)	Y243*	probably null	Het
Hspg2	A	G	4: 137,242,734 (GRCm39)	T650A	possibly damaging	Het
Ints2	C	T	11: 86,139,677 (GRCm39)	V306I	probably damaging	Het
Itga1	T	A	13: 115,128,996 (GRCm39)	D554V	probably benign	Het
Itgam	C	T	7: 127,680,806 (GRCm39)	A245V	probably damaging	Het
Kcnk15	A	G	2: 163,700,243 (GRCm39)	T161A	probably benign	Het
Klhl18	A	T	9: 110,257,749 (GRCm39)	C564S	probably benign	Het
Krt40	T	A	11: 99,432,540 (GRCm39)	R159*	probably null	Het
L3mbtl4	G	A	17: 68,762,775 (GRCm39)	V103M	probably damaging	Het
Lnx2	C	A	5: 146,955,850 (GRCm39)	V649L	possibly damaging	Het
Lpp	A	T	16: 24,426,991 (GRCm39)	Q39H	probably damaging	Het
Lrpprc	A	T	17: 85,060,540 (GRCm39)		probably null	Het
Map3k19	A	T	1: 127,750,152 (GRCm39)	N1066K	probably benign	Het
Mbtps2	G	T	X: 156,351,364 (GRCm39)	T134K	probably benign	Het
Mfng	C	T	15: 78,648,637 (GRCm39)	V147M	possibly damaging	Het
Mks1	T	C	11: 87,748,754 (GRCm39)	S273P	probably benign	Het
Myh2	T	C	11: 67,071,647 (GRCm39)	L488P	probably damaging	Het
Myo15a	A	G	11: 60,369,364 (GRCm39)	N708S	probably benign	Het
Myo6	A	T	9: 80,199,748 (GRCm39)	N1019I	probably damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Ncoa1	T	G	12: 4,345,976 (GRCm39)	N457T	probably benign	Het
Neb	T	C	2: 52,051,489 (GRCm39)		probably null	Het
Nlrp4e	C	A	7: 23,054,628 (GRCm39)	N927K	probably damaging	Het
Npffr2	T	C	5: 89,730,613 (GRCm39)	M181T	probably benign	Het
Nxf7	A	T	X: 134,485,132 (GRCm39)	C495S	possibly damaging	Het
Oas1g	T	C	5: 121,025,592 (GRCm39)	T12A	probably benign	Het
Or11g2	T	A	14: 50,856,036 (GRCm39)	L119Q	probably damaging	Het
Or1e17	T	A	11: 73,831,879 (GRCm39)	V269E	probably benign	Het
Or2g7	C	G	17: 38,378,562 (GRCm39)	R167G	possibly damaging	Het
Or52s1b	A	T	7: 102,822,490 (GRCm39)	V118E	possibly damaging	Het
Or5p60	A	G	7: 107,724,023 (GRCm39)	V149A	probably benign	Het
Papln	C	T	12: 83,830,153 (GRCm39)	Q1008*	probably null	Het
Pcdhb10	A	C	18: 37,545,485 (GRCm39)	D187A	probably damaging	Het
Phf2	T	A	13: 48,957,965 (GRCm39)	E1016D	unknown	Het
Phf8	T	A	X: 150,335,618 (GRCm39)	D197E	probably benign	Het
Pikfyve	A	G	1: 65,235,865 (GRCm39)	H179R	probably damaging	Het
Prkcz	T	A	4: 155,353,597 (GRCm39)	D250V	probably damaging	Het
Prpf4	A	G	4: 62,340,842 (GRCm39)	Y419C	probably damaging	Het
Prr15l	C	A	11: 96,825,440 (GRCm39)	Y23*	probably null	Het
Prr5	T	A	15: 84,587,152 (GRCm39)	S301T	probably benign	Het
Psg16	T	A	7: 16,829,088 (GRCm39)	I224N	probably benign	Het
Radil	A	G	5: 142,529,226 (GRCm39)	F186L	probably damaging	Het
Reg3g	A	T	6: 78,445,544 (GRCm39)	M1K	probably null	Het
Rps6ka3	A	G	X: 158,100,963 (GRCm39)	Y76C	probably damaging	Het
Rtl1	C	T	12: 109,556,797 (GRCm39)	V1681I	possibly damaging	Het
Sfmbt1	C	T	14: 30,533,464 (GRCm39)	R614C	probably damaging	Het
Slc12a4	A	G	8: 106,678,599 (GRCm39)	S244P	probably benign	Het
Sp140l2	T	A	1: 85,247,773 (GRCm39)	N5Y	probably benign	Het
Sptbn1	T	C	11: 30,089,250 (GRCm39)	T671A	possibly damaging	Het
Supt16	A	T	14: 52,411,570 (GRCm39)	N604K	probably damaging	Het
Synj2	G	A	17: 6,080,058 (GRCm39)	V1096I	probably benign	Het
Tas2r129	G	T	6: 132,928,159 (GRCm39)	C32F	probably benign	Het
Tbc1d25	T	C	X: 8,039,108 (GRCm39)	Y140C	probably damaging	Het
Tfap2d	C	T	1: 19,174,591 (GRCm39)	R15C	possibly damaging	Het
Tgfbi	C	A	13: 56,777,515 (GRCm39)	T333N	probably benign	Het
Tnk1	T	C	11: 69,746,508 (GRCm39)	Y235C	probably damaging	Het
Ttc17	A	G	2: 94,208,439 (GRCm39)	F144S	probably benign	Het
Twnk	G	T	19: 44,996,578 (GRCm39)	G337V	possibly damaging	Het
Unc13a	A	G	8: 72,110,676 (GRCm39)	F464L	probably benign	Het
Usp17le	C	A	7: 104,417,667 (GRCm39)	A492S	probably damaging	Het
Vmn1r213	A	T	13: 23,195,932 (GRCm39)	M172L	probably benign	Het
Vmn1r71	G	A	7: 10,482,238 (GRCm39)	T84I	probably benign	Het
Vmn2r109	C	T	17: 20,761,336 (GRCm39)	V674M	probably damaging	Het
Vmn2r19	A	T	6: 123,312,945 (GRCm39)	I672F	possibly damaging	Het
Vmn2r77	T	C	7: 86,450,702 (GRCm39)	V196A	probably benign	Het
Xdh	T	A	17: 74,205,357 (GRCm39)	H1036L	probably damaging	Het
Zfp930	T	A	8: 69,680,948 (GRCm39)	Y214*	probably null	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
R0049:Tdrd7	UTSW	4	45,987,582 (GRCm39)	missense	probably damaging	1.00
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'- GCGTCAAATGTCTCCATGTACCTTTGC -3'
(R):5'- CATCTGTTGCCTGCCCTAAGTAACC -3'

Sequencing Primer
(F):5'- CTCGTTCCAGGTGGATGC -3'
(R):5'- gaatacttcctacatgctaagcac -3'

Posted On

2013-04-24