Mutagenetix > Incidental Mutations

Incidental Mutation 'R6532:Tdrd3'

522446

Institutional Source

Beutler Lab

Gene Symbol

Tdrd3

Ensembl Gene

ENSMUSG00000022019

Gene Name

tudor domain containing 3

Synonyms

4732418C03Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.335) question?

Stock #

R6532 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87416639-87545504 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87505816 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 400 (E400G)

Ref Sequence

ENSEMBL: ENSMUSP00000131542 (fasta)

Gene Model

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

AlphaFold

Q91W18

Predicted Effect

probably damaging
Transcript: ENSMUST00000168275
AA Change: E400G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: E400G

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 damaging
Transcript: ENSMUST00000169504
AA Change: E400G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
AA Change: E400G

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

possibly damaging
Transcript: ENSMUST00000170865
AA Change: E394G

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: E394G

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: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

100% (34/34)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,977,379	L1418P	probably damaging	Het
Adal	A	G	2: 121,146,123		probably null	Het
Akap2	T	C	4: 57,855,174	F168L	probably benign	Het
Atr	T	A	9: 95,908,408	N1600K	probably benign	Het
Cubn	T	C	2: 13,459,002	T631A	probably benign	Het
Dpp9	C	T	17: 56,205,854	G118D	possibly damaging	Het
Ear1	C	T	14: 43,819,252	R53H	probably benign	Het
Exoc1	T	C	5: 76,537,837	V132A	probably damaging	Het
Fam227a	C	T	15: 79,636,720	R301Q	probably benign	Het
Garnl3	A	T	2: 33,031,119	M298K	possibly damaging	Het
Glb1l3	T	C	9: 26,818,442	D619G	probably benign	Het
Haspin	A	T	11: 73,137,551	C237*	probably null	Het
Hook1	T	G	4: 96,019,756		probably null	Het
Hoxa7	A	G	6: 52,217,315	F31L	probably benign	Het
Hoxb7	C	A	11: 96,286,888	S54*	probably null	Het
Idh3b	AG	AGCACCACAACTG	2: 130,279,673		probably null	Het
Ifi207	A	G	1: 173,729,645	V516A	possibly damaging	Het
Inca1	T	C	11: 70,695,907	M1V	probably null	Het
Kcnt2	A	G	1: 140,584,106	T933A	probably damaging	Het
Lama4	G	A	10: 39,048,077	D494N	possibly damaging	Het
Lrp1	A	C	10: 127,541,682	H4133Q	probably damaging	Het
Lrp1	A	G	10: 127,549,407	F3542L	probably damaging	Het
Myo1f	A	G	17: 33,575,846	D20G	probably damaging	Het
Nlk	G	T	11: 78,696,055	A71E	probably damaging	Het
Nvl	G	A	1: 181,144,143		probably null	Het
Olfr1154	A	T	2: 87,903,202	I158N	probably damaging	Het
Pcnx	C	A	12: 81,980,964	H1601N	probably damaging	Het
Pnkp	T	A	7: 44,857,405	M1K	probably null	Het
Skiv2l	G	A	17: 34,844,743	R575C	probably damaging	Het
Slc25a54	A	G	3: 109,112,052	Y324C	probably damaging	Het
Unc5b	A	G	10: 60,778,828	I230T	possibly damaging	Het
Wfdc2	A	G	2: 164,563,376	T50A	probably benign	Het
Zfp563	A	G	17: 33,105,698	I422M	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
R5718:Tdrd3	UTSW	14	87506440	missense	probably benign	0.05
R6240:Tdrd3	UTSW	14	87505886	missense	probably damaging	1.00
R6292:Tdrd3	UTSW	14	87506254	missense	probably benign
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'- TAACTAGAACTCAGAGGATGCTG -3'
(R):5'- CAGAACCTGAGGAACTACTCGG -3'

Sequencing Primer
(F):5'- AAAGTATGGAGATAGGAGATGTTACC -3'
(R):5'- TGAGGAACTACTCGGCCTTTCG -3'

Posted On

2018-06-06