Mutagenetix > Incidental Mutation

Incidental Mutation 'R5291:Tdrd3'

405165

Institutional Source

Beutler Lab

Gene Symbol

Tdrd3

Ensembl Gene

ENSMUSG00000022019

Gene Name

tudor domain containing 3

Synonyms

4732418C03Rik

MMRRC Submission

042874-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.309) question?

Stock #

R5291 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87416639-87545504 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87505798 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 394 (H394L)

Ref Sequence

ENSEMBL: ENSMUSP00000131542 (fasta)

Gene Model

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

AlphaFold

Q91W18

Predicted Effect

probably benign
Transcript: ENSMUST00000168275
AA Change: H394L

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: H394L

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
AA Change: H394L

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
AA Change: H394L

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: ENSMUST00000170865
AA Change: H388L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: H388L

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: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,585,937	S328G	probably damaging	Het
Acot5	T	G	12: 84,073,519	L216R	probably benign	Het
Ankrd6	A	G	4: 32,823,446	L192P	probably damaging	Het
Atp6v1e1	C	A	6: 120,818,333		probably null	Het
Bbs9	T	C	9: 22,628,997	Y358H	probably damaging	Het
Bend7	G	A	2: 4,763,241	R336Q	probably damaging	Het
Camk2a	A	G	18: 60,957,164	K192R	probably damaging	Het
Ceacam1	T	A	7: 25,471,831	R223W	probably damaging	Het
Cntn6	T	A	6: 104,726,135	F173I	probably damaging	Het
Cntrl	A	C	2: 35,134,060	I33L	probably damaging	Het
Crybg2	T	C	4: 134,073,427	S633P	probably benign	Het
Cyp2j13	T	C	4: 96,068,329	H181R	probably damaging	Het
Dlgap1	A	G	17: 70,718,210	S542G	probably benign	Het
Dnm2	T	G	9: 21,478,907	L402R	probably damaging	Het
Fndc3b	C	A	3: 27,642,995	V23L	probably benign	Het
Gata4	A	C	14: 63,240,599	F184V	probably damaging	Het
Gcnt2	A	G	13: 40,918,792	R304G	probably damaging	Het
Gm10563	TTTC	TTTCCTTC	4: 155,614,512		probably benign	Het
Gm26558	G	A	2: 70,661,529		probably benign	Het
Grip1	G	A	10: 120,086,969	V1107I	probably benign	Het
Herpud2	C	T	9: 25,124,960	G135S	probably benign	Het
Lrp1	A	G	10: 127,593,878	I441T	probably damaging	Het
Lrp1b	T	C	2: 40,903,003	D2553G	probably damaging	Het
Mkln1	T	A	6: 31,490,481	N43K	possibly damaging	Het
Olfr1259	A	T	2: 89,943,436	Y226*	probably null	Het
Olfr181	T	C	16: 58,926,401	T57A	possibly damaging	Het
Paxbp1	C	T	16: 91,044,352	M1I	probably null	Het
Phip	A	G	9: 82,945,883	Y97H	probably damaging	Het
Plec	T	A	15: 76,174,011	I3774F	probably damaging	Het
Pramef6	G	T	4: 143,895,667	P373T	probably damaging	Het
Prrc2c	C	A	1: 162,705,582		probably benign	Het
Prss12	T	C	3: 123,505,463	L628P	probably damaging	Het
Ptpre	G	A	7: 135,678,301	V578I	probably benign	Het
Qsox2	A	T	2: 26,217,698	L261H	probably damaging	Het
Rapgef2	A	T	3: 79,070,059	V1327E	possibly damaging	Het
Rnf216	A	G	5: 143,090,212	S306P	probably benign	Het
Rtel1	A	G	2: 181,352,095	Q640R	possibly damaging	Het
Ryr1	T	A	7: 29,115,598	D175V	probably benign	Het
Scarf1	T	C	11: 75,524,074	S525P	probably damaging	Het
Senp7	T	A	16: 56,186,179	Y982*	probably null	Het
Slc35b2	T	C	17: 45,566,498	Y184H	probably damaging	Het
Sned1	A	G	1: 93,295,724	K1375E	possibly damaging	Het
Spats2	G	T	15: 99,178,541	A167S	probably benign	Het
Spen	C	A	4: 141,488,079	A481S	unknown	Het
Spred3	T	A	7: 29,167,830	H47L	probably damaging	Het
Srsf4	T	A	4: 131,886,306		probably benign	Het
Terf1	A	G	1: 15,819,086		probably null	Het
Txlnb	A	T	10: 17,799,396	D99V	possibly damaging	Het
Ugt1a7c	A	T	1: 88,095,509	N130I	possibly damaging	Het
Vmn2r50	T	A	7: 10,047,825	D331V	probably damaging	Het
Vps13d	A	G	4: 145,062,569	I744T	probably damaging	Het
Ythdc1	A	G	5: 86,835,688	D664G	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
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'- AACTAGAACTCAGAGGATGCTG -3'
(R):5'- TGCCCATACATCAGAACCTGAG -3'

Sequencing Primer
(F):5'- TCAGAGGATGCTGAGAGGTAAG -3'
(R):5'- TGAGGAACTACTCGGCCTTTCG -3'

Posted On

2016-07-22