Mutagenetix > Incidental Mutations

Incidental Mutation 'R6958:Tdrd3'

541605

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: 0.337) question?

Stock #

R6958 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87416639-87545504 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87457096 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 29 (D29G)

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: D35G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: D35G

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: D35G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
AA Change: D35G

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: D5G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170865
AA Change: D29G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: D29G

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: 99.2%
20x: 96.9%

Validation Efficiency

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
2410004B18Rik	A	G	3: 145,943,803	D159G	probably benign	Het
Ahnak	A	G	19: 9,015,215	N4621S	possibly damaging	Het
Ankrd16	C	T	2: 11,779,793	A144V	probably damaging	Het
BC080695	A	T	4: 143,571,259	D83V	probably damaging	Het
Ccdc14	T	C	16: 34,690,806	V2A	probably damaging	Het
Ccdc187	C	T	2: 26,289,719	V243I	probably benign	Het
Cdk12	A	T	11: 98,241,699	I985F	unknown	Het
Cfap65	T	C	1: 74,931,899	T87A	possibly damaging	Het
Cilp2	G	A	8: 69,882,540	P603S	probably benign	Het
Cntnap5b	A	G	1: 100,274,472	E348G	probably benign	Het
Cpa6	C	T	1: 10,595,688	V42M	probably damaging	Het
Cpsf4	A	G	5: 145,175,592	I115V	probably benign	Het
Dnah11	G	T	12: 117,933,809	P3562Q	probably damaging	Het
Dnah9	A	G	11: 66,076,341	F1664L	probably damaging	Het
Dpysl3	T	C	18: 43,438,002	Q69R	probably benign	Het
Dusp27	T	A	1: 166,107,996	D211V	probably damaging	Het
Ebf3	T	C	7: 137,199,265	T455A	possibly damaging	Het
Eif2ak3	T	A	6: 70,892,683	C785S	probably benign	Het
Elk4	T	A	1: 132,017,832	F149L	probably damaging	Het
Fgf14	A	G	14: 124,676,597	W41R	probably benign	Het
Fmnl1	T	A	11: 103,171,314	M1K	probably null	Het
Foxk2	A	T	11: 121,299,737	Q568L	probably benign	Het
Fryl	T	G	5: 73,073,929	I1602L	possibly damaging	Het
Gfm2	A	G	13: 97,146,236	I75V	probably damaging	Het
Gm3233	T	A	10: 77,759,535		probably benign	Het
Gm5096	G	A	18: 87,756,922	E190K	probably benign	Het
Gnb1	G	T	4: 155,543,194		probably null	Het
Gphn	G	T	12: 78,680,299	V662L	possibly damaging	Het
Il3	A	C	11: 54,267,111	V47G	probably benign	Het
Iqgap3	A	G	3: 88,113,366	D401G	possibly damaging	Het
Kdm3b	T	A	18: 34,808,283	S276T	probably benign	Het
Krtap6-2	A	G	16: 89,419,810	S90P	unknown	Het
Lars	C	T	18: 42,236,639	V394I	probably damaging	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Lrp10	A	G	14: 54,469,821		probably benign	Het
Ltn1	A	T	16: 87,397,791	C1407S	probably benign	Het
Lzts2	G	T	19: 45,024,143		probably benign	Het
Msantd2	A	G	9: 37,523,457	E331G	probably damaging	Het
Myo15	G	A	11: 60,503,625	G1218S	probably benign	Het
Myom2	G	A	8: 15,117,741	A1109T	probably null	Het
Nhp2	A	G	11: 51,623,107	T118A	probably benign	Het
Nup155	A	G	15: 8,147,154	Y972C	probably damaging	Het
Nxpe2	A	T	9: 48,326,266	C230S	probably damaging	Het
Olfr103	T	C	17: 37,336,417	I272V	probably benign	Het
Olfr1151	T	C	2: 87,857,951	Y259H	probably damaging	Het
Olfr577	A	G	7: 102,973,884	L36P	possibly damaging	Het
Pfkfb4	A	T	9: 109,010,547	N244I	probably damaging	Het
Pi4ka	C	T	16: 17,325,227	R24Q	probably damaging	Het
Pkd2l2	C	A	18: 34,409,490	Y8*	probably null	Het
Ptprb	T	A	10: 116,277,248	N44K	probably benign	Het
Sds	G	A	5: 120,481,472	V149M	probably damaging	Het
Slc22a30	A	G	19: 8,386,701	F204L	probably damaging	Het
Slc26a7	C	T	4: 14,506,442	A636T	probably benign	Het
Slc27a1	C	T	8: 71,585,439	A577V	possibly damaging	Het
Spata13	A	T	14: 60,751,851	T319S	possibly damaging	Het
Tex15	A	T	8: 33,570,871	I110L	probably benign	Het
Treml2	A	G	17: 48,308,152	T222A	probably damaging	Het
Trpd52l3	A	T	19: 30,004,146	L100F	probably damaging	Het
Ttf2	C	T	3: 100,945,932	E975K	probably benign	Het
Vmn1r193	T	A	13: 22,219,974		probably benign	Het
Xpo1	A	G	11: 23,285,855	T648A	probably benign	Het
Zfp641	C	T	15: 98,292,951	V71I	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
R6850:Tdrd3	UTSW	14	87458079	intron	probably benign
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'- TGGCTTTTCCCACAAATCATATGG -3'
(R):5'- TAAGGCTACAGCTAATCTAACGC -3'

Sequencing Primer
(F):5'- GGATAGCATATAGACTAGGATG -3'
(R):5'- GAAGCTACTCAAAGTATGGATTCTAC -3'

Posted On

2018-11-28