Mutagenetix > Incidental Mutation

Incidental Mutation 'R0121:Tdrd3'

21056

Institutional Source

Beutler Lab

Gene Symbol

Tdrd3

Ensembl Gene

ENSMUSG00000022019

Gene Name

tudor domain containing 3

Synonyms

4732418C03Rik

MMRRC Submission

038406-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.508) question?

Stock #

R0121 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

87416639-87545504 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87539479 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 727 (Q727L)

Ref Sequence

ENSEMBL: ENSMUSP00000126189 (fasta)

Gene Model

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

AlphaFold

Q91W18

Predicted Effect

probably damaging
Transcript: ENSMUST00000168275
AA Change: Q733L

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

SMART Domains

Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: Q733L

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: ENSMUST00000170865
AA Change: Q727L

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

SMART Domains

Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: Q727L

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

noncoding transcript
Transcript: ENSMUST00000227304

Meta Mutation Damage Score

0.1353

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 89.8%

Validation Efficiency

100% (63/63)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,259,786		probably null	Het
Adgra3	T	C	5: 50,025,786		probably benign	Het
Anxa7	A	T	14: 20,460,159	L386M	probably damaging	Het
Ap2b1	A	G	11: 83,321,967	M58V	possibly damaging	Het
Arfip2	A	G	7: 105,636,371	L224P	probably damaging	Het
Arhgap20	A	G	9: 51,838,951	N373S	possibly damaging	Het
Asph	T	C	4: 9,635,918	D73G	probably damaging	Het
Atp1a2	T	A	1: 172,289,342	E236V	probably damaging	Het
Atp2a1	A	G	7: 126,457,944	S170P	probably damaging	Het
Atp4a	C	G	7: 30,720,101	R659G	probably benign	Het
B4galnt3	C	T	6: 120,215,038	R578H	probably benign	Het
Ccdc178	C	A	18: 21,845,024		probably null	Het
Ccnh	T	A	13: 85,206,193	M252K	probably damaging	Het
Clec4b2	A	G	6: 123,204,172	D172G	probably benign	Het
Col1a1	A	G	11: 94,938,069	E79G	unknown	Het
Csf3r	A	G	4: 126,029,849	N51D	probably benign	Het
Cul7	C	T	17: 46,663,373	L1489F	probably damaging	Het
Cyp2b13	G	A	7: 26,086,585	C309Y	probably benign	Het
Dync2h1	A	T	9: 7,001,327		probably benign	Het
Edn1	A	G	13: 42,305,265	T135A	probably benign	Het
Ephb2	A	G	4: 136,771,057	I237T	probably damaging	Het
Fam111a	T	A	19: 12,584,080	F12L	probably benign	Het
Foxi2	C	A	7: 135,411,911	A290E	probably benign	Het
Gabra6	A	G	11: 42,314,971	S353P	probably benign	Het
Gm4847	T	C	1: 166,642,288	D72G	probably damaging	Het
Grhl3	A	G	4: 135,552,549	I398T	probably damaging	Het
Gtdc1	T	C	2: 44,565,538		probably benign	Het
Kel	A	C	6: 41,702,064		probably benign	Het
L3mbtl3	C	T	10: 26,313,870	D499N	unknown	Het
Lama1	T	A	17: 67,798,513		probably benign	Het
Mamdc2	T	A	19: 23,310,859	E605V	probably benign	Het
Nolc1	G	A	19: 46,081,378		probably benign	Het
Nudt12	A	T	17: 59,007,639	S317T	possibly damaging	Het
Olfr1085	A	G	2: 86,657,819	V213A	probably benign	Het
Olfr1153	A	G	2: 87,897,090	K297R	possibly damaging	Het
Olfr1277	A	T	2: 111,270,314	C18S	probably benign	Het
Olfr937	T	A	9: 39,059,760	K302M	probably damaging	Het
Optn	C	T	2: 5,024,115	G526R	probably damaging	Het
Pbld1	C	T	10: 63,071,503		probably benign	Het
Prl8a9	T	G	13: 27,560,606	N84T	probably benign	Het
Psph	T	A	5: 129,791,570		probably benign	Het
Sbf2	A	G	7: 110,489,219		probably null	Het
Senp6	A	G	9: 80,116,670	D405G	probably benign	Het
Serpinb1a	T	A	13: 32,848,771		probably benign	Het
Slc2a9	T	C	5: 38,398,743	I287V	probably benign	Het
Sptbn2	T	C	19: 4,745,293	F1593S	probably damaging	Het
Tcf21	T	C	10: 22,819,807	T33A	probably benign	Het
Tecpr1	C	T	5: 144,210,199	E450K	probably benign	Het
Tenm3	G	A	8: 48,342,659	T532I	probably damaging	Het
Tg	A	T	15: 66,740,781	Q396L	probably benign	Het
Tmtc3	A	G	10: 100,458,908		probably benign	Het
Twnk	T	C	19: 45,009,265		probably benign	Het
Ubac1	A	G	2: 26,008,859		probably null	Het
Ubn2	T	C	6: 38,452,858		probably benign	Het
Zfp944	T	A	17: 22,339,268	T333S	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
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
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'- GGTGAATGTCCTCTGGCTCTTCAATG -3'
(R):5'- GCTGCATCACATGATCAGCCTTTTC -3'

Sequencing Primer
(F):5'- GGCTCTTCAATGACCCTTTTGG -3'
(R):5'- AGCCTTTTCTATCTGCATCATGAAAC -3'

Posted On

2013-04-11