Mutagenetix > Incidental Mutation

Incidental Mutation 'R1881:Tdrd3'

209141

Institutional Source

Beutler Lab

Gene Symbol

Tdrd3

Ensembl Gene

ENSMUSG00000022019

Gene Name

tudor domain containing 3

Synonyms

4732418C03Rik

MMRRC Submission

039902-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.508) question?

Stock #

R1881 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87416639-87545504 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 87486347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163714] [ENSMUST00000168275] [ENSMUST00000168275] [ENSMUST00000169504] [ENSMUST00000169504] [ENSMUST00000170865] [ENSMUST00000170865]

AlphaFold

Q91W18

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163714

SMART Domains

Protein: ENSMUSP00000128074
Gene: ENSMUSG00000022019

Domain	Start	End	E-Value	Type
PDB:3NBI\|A	1	74	2e-10	PDB
low complexity region	176	187	N/A	INTRINSIC
UBA	195	232	1.67e-7	SMART

Predicted Effect

probably null
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 null
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 null
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

probably null
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

probably null
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

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.3%

Validation Efficiency

96% (71/74)

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
4921501E09Rik	T	A	17: 33,065,284	D848V	probably damaging	Het
Acaca	C	A	11: 84,270,387	Y1026*	probably null	Het
Acaca	T	G	11: 84,300,471		probably benign	Het
Adcy8	C	T	15: 64,806,654	M483I	probably damaging	Het
Adgrb2	G	A	4: 130,010,285	G735S	probably damaging	Het
Akap9	A	G	5: 4,050,173	T2612A	probably benign	Het
Armc1	A	T	3: 19,134,896	S202T	possibly damaging	Het
Arsj	T	C	3: 126,438,837	S411P	probably damaging	Het
Ash1l	T	C	3: 88,981,555	V247A	probably benign	Het
Camta2	T	C	11: 70,672,016	D935G	probably benign	Het
Cc2d2a	G	T	5: 43,740,828	V1626F	probably damaging	Het
Cpne3	T	A	4: 19,535,266	R255S	probably benign	Het
Cramp1l	A	G	17: 24,977,682		probably benign	Het
Csf2rb2	C	T	15: 78,292,535		probably null	Het
Cstf3	A	T	2: 104,654,218	M396L	probably benign	Het
Ctnnd2	A	G	15: 31,005,081		probably benign	Het
Cul7	A	T	17: 46,651,962	Y173F	probably damaging	Het
Dach1	A	T	14: 97,901,396	M537K	probably benign	Het
Ddhd2	T	C	8: 25,727,700	I717V	probably damaging	Het
Dnm1	C	T	2: 32,323,730	V475I	probably damaging	Het
Dnm3	C	T	1: 162,477,948		probably benign	Het
Dsg1c	T	A	18: 20,272,540		probably benign	Het
Eaf2	A	T	16: 36,800,579		probably benign	Het
En1	T	A	1: 120,603,175	V48E	unknown	Het
Eral1	T	A	11: 78,076,049	H180L	possibly damaging	Het
Fry	T	A	5: 150,478,046	C2760S	probably damaging	Het
Gtf2h3	C	T	5: 124,584,273	A113V	probably benign	Het
Hmcn1	C	T	1: 150,638,900	V3574M	probably benign	Het
Ifnl2	T	A	7: 28,509,687	R68W	probably damaging	Het
Il6st	A	G	13: 112,504,413	T908A	probably damaging	Het
Krtap4-1	C	T	11: 99,628,164	G7S	probably null	Het
Ly75	T	C	2: 60,349,940	E631G	probably benign	Het
Mup5	C	A	4: 61,834,631	E52*	probably null	Het
Myh15	A	G	16: 49,071,083	I189V	probably damaging	Het
Nav3	T	A	10: 109,852,559	Q619L	probably damaging	Het
Olfr298	T	C	7: 86,489,438	M38V	probably benign	Het
Olfr513	T	C	7: 108,755,128	S91P	probably damaging	Het
Olfr59	A	T	11: 74,288,666	T7S	probably benign	Het
Olfr733	A	G	14: 50,299,015	I98T	probably damaging	Het
Pam	T	C	1: 97,923,151	T161A	probably benign	Het
Pigs	T	C	11: 78,341,756	V472A	probably benign	Het
Plek	A	T	11: 16,990,111	N176K	probably benign	Het
Poc5	A	G	13: 96,398,731	N168S	probably benign	Het
Pomt2	G	T	12: 87,135,596	A219D	probably damaging	Het
Rttn	T	A	18: 89,015,212	S716T	probably damaging	Het
Sema4b	A	T	7: 80,216,792	S207C	probably damaging	Het
Slc25a20	G	A	9: 108,680,209		probably null	Het
Slc5a6	A	T	5: 31,036,811	L634Q	probably damaging	Het
Slfn3	A	G	11: 83,213,376	I235V	possibly damaging	Het
Smarcc1	T	A	9: 110,175,099	L407Q	probably damaging	Het
Spata32	T	C	11: 103,210,735		probably benign	Het
Thada	A	G	17: 84,436,702	V726A	probably benign	Het
Tmed7	A	T	18: 46,588,555		probably null	Het
Tmem161a	G	A	8: 70,180,785	G94S	probably null	Het
Tmem81	T	A	1: 132,508,210		probably benign	Het
Trim63	C	A	4: 134,316,391	A55E	probably damaging	Het
Trmt1	A	C	8: 84,689,267		probably benign	Het
Trpv4	C	T	5: 114,623,626	V814M	probably benign	Het
Tshz3	T	C	7: 36,771,654	S1023P	possibly damaging	Het
Upk3bl	G	A	5: 136,057,303	R31Q	probably benign	Het
Usp40	T	C	1: 87,994,271	D290G	probably benign	Het
Vmn1r192	G	T	13: 22,187,594	A152E	probably benign	Het
Vmn1r26	T	A	6: 58,008,665	T180S	probably benign	Het
Wdr48	G	T	9: 119,909,540	V89L	probably benign	Het
Wdr6	G	T	9: 108,573,179		probably null	Het
Zfp345	A	G	2: 150,472,355	Y421H	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
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
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
R9520:Tdrd3	UTSW	14	87487260	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGCTTTATGTAAGTCCTCAGCATAG -3'
(R):5'- AGCGTGCATCATGGTCTCTC -3'

Sequencing Primer
(F):5'- ATAGCTGTTTCTTTATTCCTTTCAGG -3'
(R):5'- ATGGTCTCTCTCTTACCTCTAACAAC -3'

Posted On

2014-06-30