Mutagenetix > Incidental Mutation

Incidental Mutation 'R7369:Tdrd7'

571988

Institutional Source

Beutler Lab

Gene Symbol

Tdrd7

Ensembl Gene

ENSMUSG00000035517

Gene Name

tudor domain containing 7

Synonyms

5730495N10Rik

MMRRC Submission

045453-MU

Accession Numbers

Essential gene?

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

Stock #

R7369 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45965334-46034761 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46013239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 660 (C660S)

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: C627S

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099993
Gene: ENSMUSG00000035517
AA Change: C627S

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

possibly damaging
Transcript: ENSMUST00000107777
AA Change: C660S

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103406
Gene: ENSMUSG00000035517
AA Change: C660S

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

Meta Mutation Damage Score

0.1302

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (77/77)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L13Rik	C	T	7: 29,989,377 (GRCm39)	L196F	unknown	Het
Ahr	A	T	12: 35,554,659 (GRCm39)	W487R	possibly damaging	Het
Apaf1	A	G	10: 90,836,898 (GRCm39)	S1060P	probably damaging	Het
Atf7	G	T	15: 102,462,244 (GRCm39)	P126H	probably damaging	Het
B3gnt5	C	A	16: 19,588,410 (GRCm39)	Q210K	probably benign	Het
Begain	T	C	12: 108,999,853 (GRCm39)	Y306C	possibly damaging	Het
Car5a	T	C	8: 122,650,573 (GRCm39)	K157R	probably benign	Het
Car5b	A	C	X: 162,797,836 (GRCm39)	S35R	probably benign	Het
Cdh6	A	G	15: 13,042,724 (GRCm39)	V478A	probably damaging	Het
Cdyl	A	G	13: 35,999,992 (GRCm39)	E91G	probably damaging	Het
Cep135	A	C	5: 76,741,100 (GRCm39)	K59Q	possibly damaging	Het
Clec2m	T	A	6: 129,308,496 (GRCm39)	Q11L	possibly damaging	Het
Cnot3	T	A	7: 3,656,330 (GRCm39)	D205E	possibly damaging	Het
Dgkd	G	A	1: 87,849,344 (GRCm39)	G379R	probably damaging	Het
Dppa1	T	A	11: 46,506,944 (GRCm39)		probably null	Het
Dsp	G	T	13: 38,381,501 (GRCm39)	V2749F	possibly damaging	Het
E2f4	A	G	8: 106,026,966 (GRCm39)	K177E	probably benign	Het
Efcab5	G	A	11: 77,008,661 (GRCm39)	P819L	possibly damaging	Het
Ercc5	T	A	1: 44,220,020 (GRCm39)	S1097R	probably benign	Het
Erp44	T	C	4: 48,218,183 (GRCm39)	N162S	probably benign	Het
Evl	A	G	12: 108,652,824 (GRCm39)	Y423C	unknown	Het
Fam78a	T	A	2: 31,959,699 (GRCm39)	N137I	probably damaging	Het
Fcrl2	T	C	3: 87,164,008 (GRCm39)	N374D	possibly damaging	Het
Fcrla	T	G	1: 170,749,886 (GRCm39)	D57A	probably benign	Het
Gm7145	A	T	1: 117,913,838 (GRCm39)	H240L	probably benign	Het
Kdm5a	T	A	6: 120,408,965 (GRCm39)	N1549K	possibly damaging	Het
Kirrel1	C	T	3: 87,048,391 (GRCm39)	R9H	probably benign	Het
Klf7	T	C	1: 64,160,300 (GRCm39)		probably null	Het
Lce1d	G	A	3: 92,593,390 (GRCm39)	Q8*	probably null	Het
Lcn4	T	C	2: 26,557,906 (GRCm39)	H180R	probably benign	Het
Lmntd1	T	A	6: 145,359,301 (GRCm39)	Y283F	probably damaging	Het
Lrp1b	C	T	2: 41,172,051 (GRCm39)	R1646K		Het
Map3k21	C	A	8: 126,637,855 (GRCm39)	A147E	possibly damaging	Het
Mapk8ip2	T	C	15: 89,338,454 (GRCm39)	S11P	probably benign	Het
Mdn1	T	A	4: 32,773,375 (GRCm39)	F5518L	probably damaging	Het
Msh3	T	A	13: 92,435,770 (GRCm39)	T510S	probably benign	Het
Myh1	A	T	11: 67,111,524 (GRCm39)	Q1654H	probably damaging	Het
Ncbp3	T	C	11: 72,968,747 (GRCm39)	V506A	probably benign	Het
Nfkbiz	A	G	16: 55,642,209 (GRCm39)	S70P	probably damaging	Het
Nmi	T	C	2: 51,840,096 (GRCm39)	D215G	possibly damaging	Het
Nphp3	T	C	9: 103,895,449 (GRCm39)	S496P	probably damaging	Het
Nrp1	T	A	8: 129,158,396 (GRCm39)	C228S	probably damaging	Het
Or6c5c	A	T	10: 129,299,390 (GRCm39)	M282L	probably benign	Het
Pcdh9	C	A	14: 94,123,803 (GRCm39)	R789L	possibly damaging	Het
Pigr	A	T	1: 130,769,503 (GRCm39)	T105S	probably benign	Het
Polr2a	A	C	11: 69,636,803 (GRCm39)	S383A	probably benign	Het
Prr35	G	A	17: 26,166,934 (GRCm39)	S201L	probably damaging	Het
Psd3	T	A	8: 68,356,818 (GRCm39)	H634L	possibly damaging	Het
Ptgr2	T	G	12: 84,339,080 (GRCm39)		probably benign	Het
Ptk6	A	G	2: 180,840,254 (GRCm39)	Y251H	possibly damaging	Het
Rnf213	A	G	11: 119,321,294 (GRCm39)	T1251A		Het
Rtkn2	A	G	10: 67,877,259 (GRCm39)	K443E	probably damaging	Het
Rundc3a	T	A	11: 102,290,721 (GRCm39)	L268Q	probably damaging	Het
Serpinb5	A	G	1: 106,802,879 (GRCm39)	E138G	probably benign	Het
Shroom1	A	T	11: 53,356,075 (GRCm39)	D375V	probably benign	Het
Siglecf	A	G	7: 43,001,241 (GRCm39)	T70A	probably damaging	Het
Slc20a2	A	T	8: 23,051,416 (GRCm39)	E483V	probably benign	Het
Slc49a3	A	G	5: 108,593,394 (GRCm39)	V148A	probably benign	Het
Sort1	G	A	3: 108,258,996 (GRCm39)	G676D	probably damaging	Het
Spef2	T	C	15: 9,584,293 (GRCm39)	S1581G	probably benign	Het
Stx6	C	T	1: 155,073,130 (GRCm39)	R214*	probably null	Het
Stxbp5l	A	G	16: 36,954,703 (GRCm39)	I950T	probably benign	Het
Tgm4	T	A	9: 122,885,749 (GRCm39)		probably null	Het
Tmem67	T	C	4: 12,053,535 (GRCm39)	Y671C	probably damaging	Het
Ttc6	A	T	12: 57,719,717 (GRCm39)		probably null	Het
Tut7	A	G	13: 59,929,867 (GRCm39)	I1458T	possibly damaging	Het
Uba2	A	G	7: 33,850,239 (GRCm39)	S405P	possibly damaging	Het
Usp34	T	C	11: 23,382,361 (GRCm39)	I2043T		Het
Vmn1r12	T	A	6: 57,136,683 (GRCm39)	I260N	possibly damaging	Het
Vmn1r172	C	T	7: 23,360,030 (GRCm39)	T305I	unknown	Het
Vmn2r24	T	C	6: 123,792,638 (GRCm39)	V655A	probably damaging	Het
Wdr33	T	C	18: 32,019,719 (GRCm39)	S464P	probably benign	Het
Zfp260	T	A	7: 29,804,750 (GRCm39)	C217S	probably damaging	Het
Zfp760	A	G	17: 21,942,214 (GRCm39)	E463G	probably benign	Het
Zhx1	A	G	15: 57,916,696 (GRCm39)	Y517H	probably damaging	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
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
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'- AGGTTCTGAATGATGACCCTG -3'
(R):5'- AGGCTGAGTTAATGATCACCAG -3'

Sequencing Primer
(F):5'- ATGACCCTGACCTTGTGAAG -3'
(R):5'- GATCACCAGGAAACTTTTTGCC -3'

Posted On

2019-09-13