Mutagenetix > Incidental Mutation

Incidental Mutation 'R6063:Tdrd7'

483898

Institutional Source

Beutler Lab

Gene Symbol

Tdrd7

Ensembl Gene

ENSMUSG00000035517

Gene Name

tudor domain containing 7

Synonyms

5730495N10Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.540) question?

Stock #

R6063 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45965334-46034761 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46005486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 431 (T431A)

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: T398A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099993
Gene: ENSMUSG00000035517
AA Change: T398A

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: T431A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103406
Gene: ENSMUSG00000035517
AA Change: T431A

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,483,318 (GRCm39)	R1713C	unknown	Het
Ano6	C	T	15: 95,846,298 (GRCm39)	T512I	probably damaging	Het
Ap3s1	T	C	18: 46,887,505 (GRCm39)	V46A	probably benign	Het
Art2a	C	A	7: 101,204,413 (GRCm39)	V42F	probably damaging	Het
Asph	C	T	4: 9,531,960 (GRCm39)	V386M	probably benign	Het
B4galnt4	T	A	7: 140,644,643 (GRCm39)	D179E	probably benign	Het
Bbx	T	C	16: 50,071,730 (GRCm39)	I232V	probably benign	Het
C1ql2	A	G	1: 120,269,321 (GRCm39)	I159V	probably benign	Het
Ccar1	A	G	10: 62,612,496 (GRCm39)	V223A	possibly damaging	Het
Cd2ap	A	T	17: 43,136,802 (GRCm39)	L277I	probably benign	Het
Cfap44	G	A	16: 44,250,255 (GRCm39)	E778K	probably benign	Het
Chd3	A	T	11: 69,240,063 (GRCm39)	D1626E	probably benign	Het
Crocc	C	T	4: 140,769,032 (GRCm39)	G505S	probably benign	Het
Crocc	T	A	4: 140,773,851 (GRCm39)	Q72L	probably damaging	Het
Drosha	T	C	15: 12,834,156 (GRCm39)		probably benign	Het
Eps8l1	T	A	7: 4,474,296 (GRCm39)	S256T	possibly damaging	Het
F830045P16Rik	A	G	2: 129,316,310 (GRCm39)	V133A	probably damaging	Het
Fermt2	A	T	14: 45,697,338 (GRCm39)	M671K	possibly damaging	Het
Fhdc1	G	A	3: 84,353,336 (GRCm39)	L630F	probably benign	Het
Gon4l	T	C	3: 88,807,306 (GRCm39)	S1667P	probably damaging	Het
Greb1l	A	C	18: 10,557,340 (GRCm39)	K1780T	probably damaging	Het
H2-Q10	C	T	17: 35,781,026 (GRCm39)	T8M	probably benign	Het
Hmcn2	A	T	2: 31,324,725 (GRCm39)	T4215S	probably benign	Het
I0C0044D17Rik	G	A	4: 98,708,576 (GRCm39)		probably benign	Het
Ifi204	A	G	1: 173,579,223 (GRCm39)	F541L	probably benign	Het
Igkv6-17	C	T	6: 70,348,764 (GRCm39)	A45V	probably damaging	Het
Intu	G	A	3: 40,608,524 (GRCm39)	A161T	probably damaging	Het
Kcnmb2	A	G	3: 32,233,141 (GRCm39)	Y73C	probably damaging	Het
Lrit1	T	C	14: 36,776,945 (GRCm39)	F22L	probably benign	Het
Lrp1b	A	T	2: 41,174,156 (GRCm39)	C699*	probably null	Het
Lrrc8d	A	G	5: 105,959,992 (GRCm39)	D134G	probably benign	Het
Map1b	T	C	13: 99,567,645 (GRCm39)	D1692G	unknown	Het
Met	C	T	6: 17,491,967 (GRCm39)	S243F	probably damaging	Het
Mlph	C	A	1: 90,855,882 (GRCm39)	H96Q	probably damaging	Het
Mycbp2	A	T	14: 103,372,582 (GRCm39)	V4088D	probably damaging	Het
Nampt	T	A	12: 32,898,658 (GRCm39)	S425T	probably damaging	Het
Nts	G	A	10: 102,320,856 (GRCm39)	H78Y	probably benign	Het
Nxf1	A	G	19: 8,745,151 (GRCm39)	E467G	possibly damaging	Het
Olfml2a	C	A	2: 38,841,155 (GRCm39)	D230E	probably benign	Het
Or4b13	C	A	2: 90,082,771 (GRCm39)	C187F	probably benign	Het
Or52n2c	C	T	7: 104,574,599 (GRCm39)	R124H	probably benign	Het
Pcsk5	A	G	19: 17,432,045 (GRCm39)		probably null	Het
Pde5a	C	A	3: 122,618,574 (GRCm39)	T629K	probably benign	Het
Plcb3	G	T	19: 6,940,202 (GRCm39)	R462S	possibly damaging	Het
Pnpla6	T	A	8: 3,574,156 (GRCm39)	M469K	probably benign	Het
Pram1	A	T	17: 33,860,386 (GRCm39)	K318*	probably null	Het
Prkd1	T	C	12: 50,388,826 (GRCm39)	R906G	probably benign	Het
Ptprh	T	A	7: 4,576,361 (GRCm39)	T300S	possibly damaging	Het
Rdh16f2	A	G	10: 127,712,743 (GRCm39)	Y247C	probably benign	Het
Rimbp3	A	G	16: 17,028,781 (GRCm39)	E735G	probably damaging	Het
Sall3	G	A	18: 81,017,470 (GRCm39)	P153S	possibly damaging	Het
Samd4b	T	A	7: 28,123,056 (GRCm39)	M1L	possibly damaging	Het
Septin12	T	C	16: 4,810,127 (GRCm39)	E136G	probably damaging	Het
Shpk	A	T	11: 73,104,270 (GRCm39)	K140*	probably null	Het
Sidt1	G	T	16: 44,079,829 (GRCm39)	F608L	probably benign	Het
Skint5	A	G	4: 113,347,842 (GRCm39)	Y1300H	probably benign	Het
Slc22a28	G	A	19: 8,094,386 (GRCm39)	P212S	probably benign	Het
Slc22a5	A	T	11: 53,758,359 (GRCm39)	F480L	possibly damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc3a1	C	T	17: 85,335,951 (GRCm39)	P31L	probably benign	Het
Slc4a7	T	C	14: 14,793,964 (GRCm38)	V1074A	possibly damaging	Het
Snx2	C	T	18: 53,342,697 (GRCm39)	Q254*	probably null	Het
Sox30	G	A	11: 45,882,769 (GRCm39)	V600I	probably benign	Het
Svil	T	G	18: 5,106,724 (GRCm39)	V1855G	probably damaging	Het
Tdpoz9	A	G	3: 93,957,408 (GRCm39)	F7L	probably benign	Het
Tenm2	A	T	11: 36,054,544 (GRCm39)		probably null	Het
Tigar	A	G	6: 127,068,164 (GRCm39)	S85P	probably benign	Het
Tnr	A	C	1: 159,740,254 (GRCm39)	M1143L	probably benign	Het
Trio	G	T	15: 27,891,465 (GRCm39)	Q429K	possibly damaging	Het
Urb1	T	C	16: 90,585,985 (GRCm39)	I452M	probably benign	Het
Uroc1	A	T	6: 90,324,910 (GRCm39)	E461V	probably benign	Het
Vax1	C	A	19: 59,157,036 (GRCm39)	R99L	unknown	Het
Xab2	A	T	8: 3,663,051 (GRCm39)	I510N	possibly damaging	Het
Zbtb34	A	T	2: 33,301,842 (GRCm39)	I233K	possibly damaging	Het
Zbtb47	A	G	9: 121,592,598 (GRCm39)	E306G	probably benign	Het
Zfp27	A	G	7: 29,593,727 (GRCm39)	F746S	probably damaging	Het
Zfp719	C	T	7: 43,239,050 (GRCm39)	Q213*	probably null	Het
Zswim6	T	C	13: 107,865,112 (GRCm39)		noncoding transcript	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
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'- AGTACTCAAGTGGCCTTTGG -3'
(R):5'- ATGCCAACTTGCCTGATAACC -3'

Posted On

2017-07-14