Mutagenetix > Incidental Mutation

Incidental Mutation 'R0648:Tdrd3'

57371

Institutional Source

Beutler Lab

Gene Symbol

Tdrd3

Ensembl Gene

ENSMUSG00000022019

Gene Name

tudor domain containing 3

Synonyms

4732418C03Rik

MMRRC Submission

038833-MU

Accession Numbers

Essential gene?

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

Stock #

R0648 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87416639-87545504 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87472182 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 100 (T100M)

Ref Sequence

ENSEMBL: ENSMUSP00000131542 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163714] [ENSMUST00000168275] [ENSMUST00000169504] [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 damaging
Transcript: ENSMUST00000168275
AA Change: T100M

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

SMART Domains

Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: T100M

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: T100M

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

SMART Domains

Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
AA Change: T100M

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

possibly damaging
Transcript: ENSMUST00000170712
AA Change: T88M

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126212
Gene: ENSMUSG00000022019
AA Change: T88M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170865
AA Change: T94M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: T94M

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

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (80/80)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	A	G	6: 129,330,969	F46L	probably benign	Het
Abcc5	A	G	16: 20,365,882	V1009A	possibly damaging	Het
Acta2	T	C	19: 34,248,534	I87V	probably benign	Het
Arid1a	A	G	4: 133,685,204	Y1560H	unknown	Het
Bcor	C	T	X: 12,059,051	R102Q	probably damaging	Het
Camsap2	A	T	1: 136,304,319	D179E	probably damaging	Het
Ccdc18	T	A	5: 108,135,560	S46T	probably damaging	Het
Ccdc18	A	C	5: 108,174,987	Q651P	probably damaging	Het
Cdc73	T	C	1: 143,695,462	T80A	probably benign	Het
Cdh7	T	A	1: 110,065,607		probably benign	Het
Cenpe	G	A	3: 135,230,082	G426D	probably damaging	Het
Cenpt	A	G	8: 105,844,960	V487A	probably damaging	Het
Col4a1	G	A	8: 11,246,892	P84S	unknown	Het
Dennd2d	A	G	3: 106,500,555	I450M	probably damaging	Het
Dhps	C	A	8: 85,073,282		probably null	Het
Ebf1	A	T	11: 44,991,510	H431L	probably damaging	Het
Efcab6	A	G	15: 83,933,064		probably benign	Het
Egflam	T	C	15: 7,207,709	H990R	probably damaging	Het
Ercc6l2	A	G	13: 63,844,645	T303A	probably benign	Het
Fam160a1	A	C	3: 85,730,614	V126G	probably damaging	Het
Fam167b	T	C	4: 129,578,357	K7E	probably benign	Het
Fgd3	T	C	13: 49,296,573	I67V	probably benign	Het
Fn1	A	T	1: 71,597,585	V2045D	possibly damaging	Het
Gm10451	A	G	12: 76,451,296		noncoding transcript	Het
Gm8251	A	G	1: 44,056,563	S1792P	possibly damaging	Het
Gnl1	A	G	17: 35,982,598	N225S	probably damaging	Het
Gpx6	A	T	13: 21,318,877	N154Y	probably benign	Het
Haus8	C	A	8: 71,256,530	G79V	probably damaging	Het
Hdgfl1	A	T	13: 26,769,853	L79Q	probably damaging	Het
Hist2h2be	A	G	3: 96,221,535	S124G	probably benign	Het
Impdh2	T	C	9: 108,563,466	Y83H	probably benign	Het
Lama2	T	C	10: 26,989,376	T2929A	probably benign	Het
Lpin2	T	C	17: 71,229,312	S199P	probably benign	Het
Mkl1	A	G	15: 81,016,920	S457P	probably damaging	Het
Moap1	T	C	12: 102,742,517	T258A	probably benign	Het
Mrps35	C	A	6: 147,055,945	S156*	probably null	Het
Mtbp	C	T	15: 55,603,201	P537S	probably benign	Het
Ncstn	C	A	1: 172,067,887	V565F	probably benign	Het
Nhsl1	A	G	10: 18,531,726	N1536S	possibly damaging	Het
Nkain4	T	C	2: 180,943,112	Q103R	possibly damaging	Het
Nsun2	T	A	13: 69,627,587	N383K	probably damaging	Het
Olfr1342	C	T	4: 118,690,072	V127I	probably benign	Het
Olfr820	A	G	10: 130,017,481	N40S	probably damaging	Het
Parp1	C	T	1: 180,600,440		probably benign	Het
Pkd1	G	A	17: 24,594,937	R4125H	probably damaging	Het
Plxnd1	T	C	6: 115,994,001	I269V	possibly damaging	Het
Qrich1	T	A	9: 108,544,877	N563K	probably damaging	Het
Rab3il1	TGAAG	TGAAGAAG	19: 10,027,388		probably benign	Het
Rell1	G	A	5: 63,924,745	T271M	probably benign	Het
Rgl1	A	G	1: 152,536,265		probably null	Het
Rph3a	C	T	5: 120,959,270	R261H	possibly damaging	Het
Ryr2	A	T	13: 11,724,333	M2161K	possibly damaging	Het
Scaf11	T	C	15: 96,418,458	N1075S	possibly damaging	Het
Serpina3j	A	G	12: 104,314,679	D37G	probably benign	Het
Siah2	A	G	3: 58,676,214	V217A	probably damaging	Het
Sik2	T	C	9: 50,898,745	D506G	probably benign	Het
Skap2	A	C	6: 51,879,785	V279G	probably benign	Het
Slc8a3	G	T	12: 81,314,446	T533N	probably damaging	Het
Slc9a7	A	T	X: 20,162,420		probably benign	Het
Snai3	G	T	8: 122,454,994	F241L	probably damaging	Het
Speg	T	C	1: 75,427,978	S2805P	probably benign	Het
Spink5	A	T	18: 43,999,797		probably benign	Het
Tctn1	C	T	5: 122,251,698	E254K	probably benign	Het
Tex47	T	C	5: 7,305,215	V132A	probably benign	Het
Thbs3	A	G	3: 89,216,665		probably null	Het
Tigit	T	A	16: 43,662,038	Y111F	probably damaging	Het
Tmem245	A	G	4: 56,906,270	I148T	probably benign	Het
Tmem97	A	G	11: 78,550,539	Y39H	probably benign	Het
Tnks2	T	A	19: 36,862,074		probably null	Het
Trp53bp1	A	G	2: 121,235,707	V846A	probably benign	Het
Tulp2	T	G	7: 45,519,786	I259S	probably damaging	Het
Twistnb	C	T	12: 33,438,000	Q305*	probably null	Het
Ubxn1	G	A	19: 8,874,248	R215H	probably damaging	Het
Vmn1r17	A	G	6: 57,360,475	F253L	probably damaging	Het
Vmn2r10	T	C	5: 108,995,916	M723V	probably benign	Het
Xndc1	T	C	7: 102,078,824	V14A	possibly damaging	Het
Xpnpep1	A	G	19: 52,997,863		probably benign	Het
Yes1	T	A	5: 32,655,518	M322K	possibly damaging	Het
Zdhhc14	C	A	17: 5,493,602	N52K	probably benign	Het
Zfp42	A	G	8: 43,295,978	V162A	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
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
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'- CAAAACCAGAGCTGCTTTCTTAGTGC -3'
(R):5'- ACATGAACACCCCAGAATCTGTTATGG -3'

Sequencing Primer
(F):5'- CGTGCATTGGAATTATCTGAAAGTG -3'
(R):5'- CCCCAGAATCTGTTATGGAAAAG -3'

Posted On

2013-07-11