Mutagenetix > Incidental Mutation

Incidental Mutation 'R8786:Tdrd3'

670661

Institutional Source

Beutler Lab

Gene Symbol

Tdrd3

Ensembl Gene

ENSMUSG00000022019

Gene Name

tudor domain containing 3

Synonyms

4732418C03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.428) question?

Stock #

R8786 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87416639-87545504 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 87472201 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 106 (C106*)

Ref Sequence

ENSEMBL: ENSMUSP00000129019 (fasta)

Gene Model

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

AlphaFold

Q91W18

PDB Structure

Solution structure of the Tudor domain of Tudor domain containing protein 3 from mouse [SOLUTION NMR]

Predicted Effect

probably null
Transcript: ENSMUST00000168275
AA Change: C106*

SMART Domains

Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: C106*

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 null
Transcript: ENSMUST00000169504
AA Change: C106*

SMART Domains

Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
AA Change: C106*

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 null
Transcript: ENSMUST00000170712
AA Change: C94*

SMART Domains

Protein: ENSMUSP00000126212
Gene: ENSMUSG00000022019
AA Change: C94*

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

Predicted Effect

probably null
Transcript: ENSMUST00000170865
AA Change: C100*

SMART Domains

Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: C100*

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

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (72/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430105I19Rik	C	A	2: 118,757,251	S534I	unknown	Het
Adamtsl4	A	T	3: 95,685,474	M1K	probably null	Het
Atg2a	G	T	19: 6,244,430	V59L	probably damaging	Het
Atxn7	C	A	14: 14,103,316	T888K	possibly damaging	Het
BC055324	A	T	1: 163,964,471	L626Q	probably damaging	Het
Btbd9	T	C	17: 30,530,170	R57G	probably damaging	Het
Catspere2	T	A	1: 178,015,796		probably benign	Het
Catspere2	G	A	1: 178,015,989		probably benign	Het
Crp	T	C	1: 172,698,726	V126A	probably benign	Het
Csf1r	A	T	18: 61,114,870	T337S	probably damaging	Het
Dcaf12	T	C	4: 41,296,439	N299S	probably damaging	Het
Dcaf17	T	C	2: 71,087,400		probably null	Het
Dip2c	A	G	13: 9,615,794	D985G	probably damaging	Het
Dtna	A	G	18: 23,583,133	T138A	probably benign	Het
Emid1	T	C	11: 5,131,517	D212G	probably benign	Het
Epyc	G	A	10: 97,675,663	D173N	probably damaging	Het
Fanci	A	G	7: 79,402,550	D162G	probably benign	Het
Fry	T	C	5: 150,394,036	V827A	probably benign	Het
Ggps1	T	C	13: 14,053,920	E226G	probably benign	Het
Gm11397	G	A	13: 33,404,221	R263H	probably benign	Het
Gopc	G	A	10: 52,354,654	R183*	probably null	Het
Grik4	C	T	9: 42,541,834	G752S	probably damaging	Het
H2-D1	T	A	17: 35,263,868	C125S	probably damaging	Het
H2-Q1	T	A	17: 35,320,893	V46D	probably damaging	Het
Hsd17b3	T	C	13: 64,072,048	N126S	probably damaging	Het
Igsf10	G	A	3: 59,330,642	T706I	probably benign	Het
Kmt2e	A	G	5: 23,464,866	D117G	probably damaging	Het
Kmt5a	C	T	5: 124,446,011	A18V	probably benign	Het
Krtap29-1	C	T	11: 99,978,639	G139R	probably damaging	Het
Lama5	T	C	2: 180,196,307	Y872C	probably damaging	Het
Lrriq4	T	A	3: 30,650,603	M260K	probably benign	Het
Map2	G	A	1: 66,433,596		probably benign	Het
Mrpl51	C	T	6: 125,192,377	A8V	probably benign	Het
Ndufs3	T	C	2: 90,902,434	T103A	probably benign	Het
Numa1	T	G	7: 101,998,409	L449R	probably benign	Het
Olfr1513	C	T	14: 52,349,564	A161T	possibly damaging	Het
Pan3	C	T	5: 147,488,141	P295S	possibly damaging	Het
Pds5b	T	C	5: 150,780,669	S846P	probably damaging	Het
Phf2	A	T	13: 48,813,743	M712K	unknown	Het
Phlda2	A	T	7: 143,502,474	V6E	probably benign	Het
Pkdrej	C	A	15: 85,819,843	A631S	probably benign	Het
Plcd3	G	T	11: 103,071,743	N627K	probably damaging	Het
Prpf6	T	C	2: 181,620,622	I138T	possibly damaging	Het
Psd4	G	A	2: 24,405,432	S866N	probably benign	Het
Ptprb	A	C	10: 116,319,401	T400P	probably benign	Het
Rxfp1	T	C	3: 79,663,370		probably null	Het
Sbf2	A	G	7: 110,464,586		probably null	Het
Setd4	C	T	16: 93,593,274	R89Q	probably benign	Het
Sgpp1	A	G	12: 75,716,378	I343T	probably benign	Het
Sh2b2	T	C	5: 136,231,804	D186G	probably benign	Het
Slc12a4	A	T	8: 105,953,917	I191N	probably damaging	Het
Slc4a4	A	T	5: 89,084,690	D251V	probably benign	Het
Slc6a5	A	T	7: 49,912,095	D125V	possibly damaging	Het
Slf1	T	A	13: 77,126,687	I16F	possibly damaging	Het
Sncaip	T	C	18: 52,898,262	V521A	probably damaging	Het
Stx19	T	C	16: 62,822,412	L197P	probably damaging	Het
Sucla2	A	G	14: 73,560,465	N39D	probably benign	Het
Sult1d1	T	A	5: 87,564,716	T90S	probably benign	Het
Syna	C	T	5: 134,559,869	M75I	probably benign	Het
Tas2r138	A	G	6: 40,612,677	S212P	probably damaging	Het
Tex43	T	C	18: 56,594,496	F89L	probably damaging	Het
Tlk2	C	T	11: 105,281,233	A743V	unknown	Het
Tlr3	T	C	8: 45,398,249	D537G	possibly damaging	Het
Tmc1	A	G	19: 20,826,589	Y375H	probably damaging	Het
Tsen54	T	A	11: 115,820,672	M305K	probably damaging	Het
Umod	C	T	7: 119,477,358	V62M	possibly damaging	Het
Vmn1r10	A	G	6: 57,114,025	T201A	probably benign	Het
Vmn1r103	T	C	7: 20,509,751	T262A	probably benign	Het
Vmn2r100	T	C	17: 19,522,576	V404A	probably damaging	Het
Vmn2r56	A	G	7: 12,715,466	F282L	probably damaging	Het
Wdr64	A	T	1: 175,808,761	K982*	probably null	Het
Xpo6	A	T	7: 126,112,955		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
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
R8985:Tdrd3	UTSW	14	87506161	missense	possibly damaging	0.69
R9081:Tdrd3	UTSW	14	87506281	missense	probably benign	0.00
R9520:Tdrd3	UTSW	14	87487260	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTCATTGAAAGTAGAACAGCG -3'
(R):5'- AAGGATAACTACCTTCGTCCCTAAC -3'

Sequencing Primer
(F):5'- TCATTGAAAGTAGAACAGCGGTTAAC -3'
(R):5'- GTCCCTAACTGTCTGTCAGAC -3'

Posted On

2021-04-30