Mutagenetix > Incidental Mutations

Incidental Mutation 'R5718:Tdrd3'

451310

Institutional Source

Beutler Lab

Gene Symbol

Tdrd3

Ensembl Gene

ENSMUSG00000022019

Gene Name

tudor domain containing 3

Synonyms

4732418C03Rik

MMRRC Submission

043338-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.364) question?

Stock #

R5718 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87416639-87545504 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87506440 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 608 (V608A)

Ref Sequence

ENSEMBL: ENSMUSP00000131542 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168275] [ENSMUST00000169504] [ENSMUST00000170865]

AlphaFold

Q91W18

Predicted Effect

probably benign
Transcript: ENSMUST00000168275
AA Change: V608A

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: V608A

Domain	Start	End	E-Value	Type
DUF1767	6	88	4.85e-24	SMART
low complexity region	269	280	N/A	INTRINSIC
UBA	288	325	1.67e-7	SMART
low complexity region	338	348	N/A	INTRINSIC
low complexity region	446	460	N/A	INTRINSIC
TUDOR	646	705	1.07e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169504
AA Change: V608A

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
AA Change: V608A

Domain	Start	End	E-Value	Type
DUF1767	6	88	4.85e-24	SMART
low complexity region	269	280	N/A	INTRINSIC
UBA	288	325	1.67e-7	SMART
low complexity region	338	348	N/A	INTRINSIC
low complexity region	446	460	N/A	INTRINSIC
TUDOR	646	705	1.07e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170865
AA Change: V602A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: V602A

Domain	Start	End	E-Value	Type
DUF1767	3	82	1.36e-18	SMART
low complexity region	263	274	N/A	INTRINSIC
UBA	282	319	1.67e-7	SMART
low complexity region	332	342	N/A	INTRINSIC
low complexity region	440	454	N/A	INTRINSIC
TUDOR	640	699	1.07e-7	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mice for a hypomorphic allele show increased genomic instability, and increased c-Myc/Igh translocation and R loop formation in B cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	T	C	8: 27,113,486		probably null	Het
Ahctf1	G	T	1: 179,769,339	H81N	possibly damaging	Het
Alyref2	T	C	1: 171,504,110	S152P	possibly damaging	Het
Arhgef7	C	T	8: 11,785,774	T20I	probably damaging	Het
Armc3	T	G	2: 19,303,799	Y759*	probably null	Het
Atg5	A	G	10: 44,362,987	S255G	probably benign	Het
Atp11b	A	G	3: 35,837,516	I1026V	probably benign	Het
Atp1a2	C	A	1: 172,279,442	K770N	probably damaging	Het
Bptf	G	T	11: 107,111,434	A284E	probably damaging	Het
Celsr2	A	G	3: 108,393,358	S815P	probably benign	Het
Chrna5	A	G	9: 54,998,105	H67R	probably benign	Het
Cic	A	G	7: 25,272,778	I645V	probably benign	Het
Clpx	A	T	9: 65,299,964	Q48L	probably benign	Het
Crhr2	G	A	6: 55,092,100	Q397*	probably null	Het
Cyp11a1	G	A	9: 58,018,225	V48I	probably benign	Het
Dchs1	C	T	7: 105,755,748	R2529H	probably benign	Het
Dnah7c	A	T	1: 46,748,666	H3293L	possibly damaging	Het
Dock6	G	T	9: 21,824,493	D986E	probably benign	Het
Efcab6	T	A	15: 83,904,238	N952Y	probably damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Epg5	G	A	18: 77,986,403	C1327Y	probably damaging	Het
Fbxw18	T	C	9: 109,691,568	E241G	probably benign	Het
Fsd1	T	G	17: 55,990,542		probably benign	Het
Gcnt3	A	G	9: 70,034,270	S339P	probably benign	Het
Gldc	T	A	19: 30,110,772	K829*	probably null	Het
Gli3	G	A	13: 15,478,165		probably null	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Greb1l	G	A	18: 10,542,427	E1341K	probably damaging	Het
Hmcn1	A	T	1: 150,609,666	I4395N	probably damaging	Het
Hmcn1	A	T	1: 150,690,600	C2217*	probably null	Het
Hmgxb3	A	G	18: 61,140,837	M861T	probably benign	Het
Ift172	A	G	5: 31,255,277	S1545P	possibly damaging	Het
Jak3	C	A	8: 71,684,354	L725M	probably damaging	Het
Lrig2	A	T	3: 104,468,615	C90*	probably null	Het
Mcm7	C	T	5: 138,164,819	R357H	possibly damaging	Het
Mcoln2	T	C	3: 146,181,826	S333P	probably damaging	Het
Mrpl22	A	T	11: 58,177,283	I136L	probably benign	Het
Ncam2	A	T	16: 81,589,814		probably null	Het
Ncdn	G	A	4: 126,749,950	Q360*	probably null	Het
Nsun2	A	G	13: 69,623,284	K338E	probably benign	Het
Obscn	T	C	11: 59,036,808	T6105A	probably damaging	Het
Olfr171	G	A	16: 19,624,389	S237F	probably benign	Het
Olfr957	A	T	9: 39,511,042	L226H	probably damaging	Het
Pcnx4	T	A	12: 72,567,194	F638I	possibly damaging	Het
Pfn3	T	C	13: 55,415,040	I43V	probably benign	Het
Pigm	C	A	1: 172,377,445		probably null	Het
Pkhd1l1	T	A	15: 44,545,417	S2433R	probably damaging	Het
Pomt1	C	A	2: 32,248,692	A440D	possibly damaging	Het
Ptprj	T	C	2: 90,458,269	D691G	probably benign	Het
Qrich1	T	A	9: 108,528,823	S72T	probably damaging	Het
Ralgapa2	T	A	2: 146,453,406		probably null	Het
Rarg	A	C	15: 102,241,067	S156A	probably damaging	Het
Rasl11a	A	G	5: 146,847,144	K133R	probably benign	Het
Rcor1	A	G	12: 111,101,635	D158G	probably benign	Het
Rpn2	C	T	2: 157,321,827	T613M	probably damaging	Het
Sipa1l2	T	A	8: 125,491,248	H450L	probably damaging	Het
Slc25a21	T	C	12: 56,718,156	I263V	probably benign	Het
Slc25a32	A	T	15: 39,097,562	V242E	probably benign	Het
Slc5a5	T	A	8: 70,887,755	T484S	probably benign	Het
Thnsl1	C	A	2: 21,212,000	H188Q	possibly damaging	Het
Tshz1	A	T	18: 84,014,524	H586Q	probably damaging	Het
Vmn2r27	C	T	6: 124,192,144	A676T	possibly damaging	Het
Wasf1	G	A	10: 40,926,574	R75Q	probably damaging	Het
Xbp1	T	A	11: 5,521,903	F10I	probably benign	Het
Zbtb1	G	A	12: 76,386,924	M561I	probably benign	Het
Zfp708	T	C	13: 67,070,458	K446E	probably benign	Het

Other mutations in Tdrd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01019:Tdrd3	APN	14	87472182	missense	probably damaging	1.00
IGL01339:Tdrd3	APN	14	87480794	missense	possibly damaging	0.75
IGL01565:Tdrd3	APN	14	87472232	missense	probably benign	0.01
IGL02505:Tdrd3	APN	14	87511682	missense	probably damaging	1.00
R0121:Tdrd3	UTSW	14	87539479	missense	probably damaging	1.00
R0550:Tdrd3	UTSW	14	87486220	missense	probably damaging	1.00
R0648:Tdrd3	UTSW	14	87472182	missense	probably damaging	1.00
R1080:Tdrd3	UTSW	14	87506398	missense	probably benign	0.00
R1099:Tdrd3	UTSW	14	87487239	missense	probably damaging	1.00
R1126:Tdrd3	UTSW	14	87480774	missense	probably damaging	1.00
R1370:Tdrd3	UTSW	14	87458054	intron	probably benign
R1592:Tdrd3	UTSW	14	87505886	missense	probably damaging	1.00
R1881:Tdrd3	UTSW	14	87486347	splice site	probably null
R2096:Tdrd3	UTSW	14	87506352	nonsense	probably null
R2162:Tdrd3	UTSW	14	87480785	missense	probably damaging	0.98
R3833:Tdrd3	UTSW	14	87480785	missense	probably damaging	0.98
R3947:Tdrd3	UTSW	14	87506599	missense	probably damaging	1.00
R4421:Tdrd3	UTSW	14	87486283	missense	probably damaging	1.00
R4783:Tdrd3	UTSW	14	87472101	missense	probably damaging	1.00
R4957:Tdrd3	UTSW	14	87505787	missense	probably benign	0.06
R5212:Tdrd3	UTSW	14	87506215	missense	probably damaging	0.98
R5291:Tdrd3	UTSW	14	87505798	missense	probably benign	0.21
R5318:Tdrd3	UTSW	14	87477463	critical splice donor site	probably null
R5383:Tdrd3	UTSW	14	87480791	nonsense	probably null
R6240:Tdrd3	UTSW	14	87505886	missense	probably damaging	1.00
R6292:Tdrd3	UTSW	14	87506254	missense	probably benign
R6532:Tdrd3	UTSW	14	87505816	missense	probably damaging	0.98
R6850:Tdrd3	UTSW	14	87458079	intron	probably benign
R6958:Tdrd3	UTSW	14	87457096	missense	probably damaging	1.00
R7224:Tdrd3	UTSW	14	87477403	missense	probably damaging	1.00
R7240:Tdrd3	UTSW	14	87458803	missense	probably benign	0.06
R7565:Tdrd3	UTSW	14	87506593	nonsense	probably null
R7818:Tdrd3	UTSW	14	87472200	missense	probably damaging	1.00
R7861:Tdrd3	UTSW	14	87472154	missense	probably damaging	1.00
R8108:Tdrd3	UTSW	14	87486266	missense	possibly damaging	0.95
R8206:Tdrd3	UTSW	14	87511778	missense	probably benign	0.11
R8383:Tdrd3	UTSW	14	87506308	missense	probably benign	0.26
R8786:Tdrd3	UTSW	14	87472201	nonsense	probably null
R8985:Tdrd3	UTSW	14	87506161	missense	possibly damaging	0.69
R9081:Tdrd3	UTSW	14	87506281	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTCATCCTGATCACTGTTATGAG -3'
(R):5'- ACATGTAGCAGCGTGTTTGC -3'

Sequencing Primer
(F):5'- CCTGATCACTGTTATGAGAGGAAACC -3'
(R):5'- CAGCGTGTTTGCGACAGTCATAC -3'

Posted On

2017-01-03