Mutagenetix > Incidental Mutations

Incidental Mutation 'R6240:Tdrd3'

505200

Institutional Source

Beutler Lab

Gene Symbol

Tdrd3

Ensembl Gene

ENSMUSG00000022019

Gene Name

tudor domain containing 3

Synonyms

4732418C03Rik

MMRRC Submission

044364-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R6240 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87416639-87545504 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87505886 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 417 (N417K)

Ref Sequence

ENSEMBL: ENSMUSP00000126189 (fasta)

Gene Model

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

AlphaFold

Q91W18

Predicted Effect

probably damaging
Transcript: ENSMUST00000168275
AA Change: N423K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: N423K

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: N423K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
AA Change: N423K

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: ENSMUST00000170865
AA Change: N417K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: N417K

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

Meta Mutation Damage Score

0.2249

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	A	14: 63,986,252	R25L	probably damaging	Het
9930021J03Rik	A	T	19: 29,717,240	S1618T	probably benign	Het
Adamts1	G	A	16: 85,802,157	S185L	probably benign	Het
Adamts12	A	T	15: 11,285,958	D751V	probably benign	Het
Adgrg3	A	G	8: 95,039,916	D405G	probably benign	Het
Ahi1	A	G	10: 20,977,081	D516G	probably damaging	Het
Ahnak	A	T	19: 9,013,583	D4077V	probably damaging	Het
Arhgef18	G	A	8: 3,439,658	R330Q	probably damaging	Het
Arid1a	A	G	4: 133,680,686	V2170A	unknown	Het
Asxl3	C	T	18: 22,465,508	L227F	probably damaging	Het
B3glct	A	G	5: 149,726,788	I119V	probably benign	Het
Cad	T	A	5: 31,072,978	M1512K	probably benign	Het
Cdc25a	A	G	9: 109,884,158	T172A	probably damaging	Het
Cdh18	A	G	15: 23,226,936	D161G	possibly damaging	Het
Clmp	A	G	9: 40,782,411	N308S	probably damaging	Het
Dlg5	A	T	14: 24,149,528		probably null	Het
Dscam	G	A	16: 96,619,502	T1728M	probably damaging	Het
E4f1	A	G	17: 24,444,582	S524P	possibly damaging	Het
Epha5	G	C	5: 84,117,579	A452G	probably benign	Het
Fzd3	T	C	14: 65,209,855	T542A	probably damaging	Het
Glyctk	A	T	9: 106,156,262		probably null	Het
Gm10382	G	A	5: 125,389,596		probably benign	Het
Gm8765	G	A	13: 50,701,417	D364N	probably damaging	Het
Hnmt	T	A	2: 24,014,269	M127L	probably benign	Het
Hoxc10	T	A	15: 102,970,830	W262R	probably damaging	Het
Icam5	T	A	9: 21,033,158	W52R	possibly damaging	Het
Jazf1	A	T	6: 52,777,552	C180S	probably damaging	Het
Kcnk2	A	G	1: 189,242,982	W286R	probably damaging	Het
Kcnmb2	C	T	3: 32,181,896	S98F	probably damaging	Het
Mob3a	C	G	10: 80,689,864	E204D	possibly damaging	Het
Morc3	C	G	16: 93,862,684	H459D	probably damaging	Het
Mroh2b	A	T	15: 4,934,644	N876I	probably benign	Het
Myo16	A	T	8: 10,370,930	T257S	probably damaging	Het
Nat1	A	T	8: 67,491,702	R243S	possibly damaging	Het
Nudt9	T	C	5: 104,047,089	V17A	probably benign	Het
Olfr1205	A	G	2: 88,831,363	D82G	probably benign	Het
Olfr1216	A	G	2: 89,013,626	I146T	probably benign	Het
Olfr1340	A	G	4: 118,726,471	S75G	probably benign	Het
Olfr734	A	G	14: 50,320,586	V83A	probably benign	Het
Olfr814	C	A	10: 129,874,677	V27L	probably benign	Het
Pcdh7	T	C	5: 57,721,362	L753P	probably damaging	Het
Pcf11	T	A	7: 92,646,502	E1446D	probably damaging	Het
Pepd	A	G	7: 35,021,751	I267V	probably benign	Het
Plk2	T	A	13: 110,399,474	Y571N	probably damaging	Het
Plk2	T	A	13: 110,400,034	V620E	probably damaging	Het
Prag1	T	C	8: 36,103,352	L363P	probably benign	Het
Psmd3	A	G	11: 98,693,653	T387A	probably damaging	Het
Ptgs1	G	A	2: 36,237,285	C61Y	probably damaging	Het
Rab18	T	C	18: 6,784,635	Y109H	probably benign	Het
Robo2	G	A	16: 73,982,139	P358L	probably damaging	Het
Smarcc2	C	T	10: 128,488,024		probably benign	Het
Srgap1	A	G	10: 122,047,156	I13T	probably benign	Het
Tcf12	T	A	9: 71,944,016	K110*	probably null	Het
Tdrd1	T	C	19: 56,841,335	S214P	probably benign	Het
Tmem255b	A	G	8: 13,454,216	Y136C	probably damaging	Het
Tmem63c	A	T	12: 87,076,405	I448F	possibly damaging	Het
Tnpo1	T	C	13: 98,863,829	I335M	probably damaging	Het
Vmn1r1	T	C	1: 182,157,621	T160A	probably damaging	Het
Vmn1r203	A	G	13: 22,524,729	N227D	possibly damaging	Het
Vmn2r6	T	A	3: 64,556,805	S203C	probably damaging	Het
Zfp628	A	G	7: 4,919,849	T357A	possibly damaging	Het
Zfp872	A	G	9: 22,199,884	K220E	probably 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
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'- ACTGTCTTCCTATGTAAGTTTAGGC -3'
(R):5'- TTGTGCTGAAGGCCTAGAGG -3'

Sequencing Primer
(F):5'- AAAATGAGTAACTATCAGTGCTGTC -3'
(R):5'- GAAGCGTCTTTAGTTCTGTCATAC -3'

Posted On

2018-02-28