Mutagenetix > Incidental Mutations

Incidental Mutation 'R6850:Tdrd3'

535615

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 #

R6850 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87416639-87545504 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 87458079 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126189 (fasta)

Gene Model

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

AlphaFold

Q91W18

Predicted Effect

probably benign
Transcript: ENSMUST00000168275

SMART Domains

Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019

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

SMART Domains

Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019

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

SMART Domains

Protein: ENSMUSP00000126212
Gene: ENSMUSG00000022019
AA Change: V18A

Domain	Start	End	E-Value	Type
DUF1767	19	77	4.37e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170865

SMART Domains

Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (54/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F05Rik	ACTGCACCACCT	ACT	10: 43,532,725		probably benign	Het
4932415D10Rik	A	C	10: 82,293,054	M1374R	possibly damaging	Het
Adgb	T	C	10: 10,394,574	M927V	probably benign	Het
Agr2	A	G	12: 35,995,559	I15V	probably benign	Het
Alpk1	A	G	3: 127,729,363	I10T	possibly damaging	Het
Art5	A	G	7: 102,098,095	V159A	possibly damaging	Het
Asz1	G	A	6: 18,108,943	R32W	probably benign	Het
Atp8b1	A	C	18: 64,556,852	M603R	possibly damaging	Het
Cacna1s	G	A	1: 136,092,694	R823Q	probably benign	Het
Car9	A	G	4: 43,507,321	E3G	probably damaging	Het
Cpne3	A	T	4: 19,535,231	I267N	possibly damaging	Het
Cyp2c65	T	A	19: 39,069,091	F57I	probably benign	Het
D430041D05Rik	T	C	2: 104,201,259	K980R	probably damaging	Het
Dnhd1	G	T	7: 105,719,930	G4303W	possibly damaging	Het
Dnmt3a	A	G	12: 3,897,600	N485D	probably benign	Het
Dusp4	A	T	8: 34,816,497	K166*	probably null	Het
Ect2	T	C	3: 27,138,885	D344G	probably damaging	Het
Eif2b1	T	C	5: 124,579,006	D3G	probably benign	Het
Ermp1	A	G	19: 29,616,641	Y710H	probably damaging	Het
Gar1	T	C	3: 129,829,389	N117S	probably damaging	Het
Gm16486	A	T	8: 70,710,776	N873Y	probably damaging	Het
Gm35339	A	G	15: 76,357,796	Y763C	probably damaging	Het
H2-T10	A	G	17: 36,119,260	L263P	probably damaging	Het
Itga7	A	T	10: 128,945,516	I621F	probably damaging	Het
Kcna3	A	T	3: 107,037,159	D246V	probably damaging	Het
Kctd12	C	T	14: 102,981,978	G155S	probably benign	Het
Lrtm1	T	C	14: 29,027,450	V256A	probably benign	Het
Mcf2l	T	C	8: 13,009,476	F629L	possibly damaging	Het
Mphosph9	A	G	5: 124,260,956	F999L	probably damaging	Het
Obscn	C	T	11: 59,002,129	A6764T	possibly damaging	Het
Obscn	C	T	11: 59,068,124	V3643M	possibly damaging	Het
Olfr1189	T	A	2: 88,592,306	C167*	probably null	Het
Olfr1537	T	C	9: 39,237,975	I150V	probably benign	Het
Pdhx	T	C	2: 103,041,100	H195R	probably damaging	Het
Pdilt	A	T	7: 119,486,959	V511E	probably damaging	Het
Prima1	C	T	12: 103,197,335	D126N	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,709,061		probably benign	Het
Prune2	C	A	19: 17,122,188	D1685E	probably benign	Het
Ptgs2	A	T	1: 150,105,540	I525F	probably damaging	Het
Rab11fip2	A	T	19: 59,937,009	F259I	possibly damaging	Het
Ranbp3l	C	A	15: 9,058,727	D216E	probably damaging	Het
Scn5a	A	T	9: 119,501,749	L1240Q	possibly damaging	Het
Sohlh2	A	T	3: 55,192,286	T160S	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Tank	A	G	2: 61,650,002	E294G	probably benign	Het
Tars	T	A	15: 11,392,799	Y187F	probably benign	Het
Tas2r144	T	A	6: 42,215,923	M199K	possibly damaging	Het
Tecta	T	A	9: 42,343,838	D1683V	probably benign	Het
Tln2	A	G	9: 67,258,535	I2098T	probably damaging	Het
Tmie	A	G	9: 110,866,912	I137T	possibly damaging	Het
Trim45	T	A	3: 100,923,225	L105*	probably null	Het
Trpv3	G	A	11: 73,291,693	G568S	probably damaging	Het
Wdr75	A	G	1: 45,814,598	T390A	probably benign	Het
Zfp35	G	A	18: 24,002,782	R61H	possibly damaging	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
R6532:Tdrd3	UTSW	14	87505816	missense	probably damaging	0.98
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'- TCAGTTGAGGTTGCTGCAGC -3'
(R):5'- TGCTATGTAACCTACAGCGGTG -3'

Sequencing Primer
(F):5'- GATGCTTGTGACCCGCCATATG -3'
(R):5'- TAACCTACAGCGGTGAGGGC -3'

Posted On

2018-09-12