Mutagenetix > Incidental Mutation

Incidental Mutation 'R4783:Tdrd3'

366763

Institutional Source

Beutler Lab

Gene Symbol

Tdrd3

Ensembl Gene

ENSMUSG00000022019

Gene Name

tudor domain containing 3

Synonyms

4732418C03Rik

MMRRC Submission

042416-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.553) question?

Stock #

R4783 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87416639-87545504 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87472101 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 67 (I67N)

Ref Sequence

ENSEMBL: ENSMUSP00000126189 (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: I73N

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

SMART Domains

Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: I73N

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: I73N

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

SMART Domains

Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
AA Change: I73N

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

unknown
Transcript: ENSMUST00000170712
AA Change: I61N

SMART Domains

Protein: ENSMUSP00000126212
Gene: ENSMUSG00000022019
AA Change: I61N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170865
AA Change: I67N

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

SMART Domains

Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: I67N

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

0.8580

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (99/99)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082J24Rik	G	A	5: 30,105,200	R54*	probably null	Het
Acsl6	A	T	11: 54,336,993	M350L	probably damaging	Het
Adgrv1	T	C	13: 81,095,445	T6279A	probably damaging	Het
Ago3	A	T	4: 126,368,503	M418K	probably benign	Het
Ascc2	G	A	11: 4,646,653	R58H	probably benign	Het
Brinp3	A	G	1: 146,727,640		probably benign	Het
Carmil3	T	C	14: 55,501,321		probably null	Het
Ccdc47	T	A	11: 106,203,604	H7L	probably benign	Het
Ccndbp1	A	T	2: 121,008,522	T5S	probably benign	Het
Cdr2	A	T	7: 120,958,421	F294I	probably benign	Het
Chd8	C	A	14: 52,205,368	C575F	probably damaging	Het
Ctsll3	G	A	13: 60,800,395	T156I	probably damaging	Het
Dgcr8	G	A	16: 18,258,310	R4*	probably null	Het
Dnah1	T	A	14: 31,263,479	K3818N	probably damaging	Het
Dok2	C	T	14: 70,777,874	P347L	probably benign	Het
Elf1	T	A	14: 79,580,743	N567K	probably benign	Het
Emsy	T	C	7: 98,646,479	N72S	possibly damaging	Het
Fam155a	T	C	8: 9,208,026	Y374C	probably damaging	Het
Fam160a1	G	T	3: 85,688,570	T115K	probably damaging	Het
Fam76a	A	T	4: 132,902,117		probably null	Het
Fam76a	A	G	4: 132,916,190	Y78H	probably damaging	Het
Fbn1	A	T	2: 125,324,919	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,969,041	T312A	probably benign	Het
Flnb	A	T	14: 7,905,701	E1150D	probably benign	Het
Galt	T	C	4: 41,758,189	V318A	probably damaging	Het
Git1	T	G	11: 77,499,837	L133R	probably damaging	Het
Gm11168	G	A	9: 3,006,915	M213I	probably benign	Het
Gm7233	A	G	14: 43,179,966	E25G	probably benign	Het
Golga2	T	A	2: 32,297,156	N89K	probably damaging	Het
Grin1	T	A	2: 25,292,381	H956L	possibly damaging	Het
Hlcs	C	T	16: 94,268,539	V164I	possibly damaging	Het
Hmgcr	G	A	13: 96,666,193	T66M	probably damaging	Het
Ifi206	A	T	1: 173,480,866	H521Q	probably benign	Het
Lgals3bp	G	A	11: 118,393,514	T413I	probably damaging	Het
Lrrc7	A	G	3: 158,127,213		probably null	Het
Mapk11	T	C	15: 89,149,488	Y9C	probably damaging	Het
Mccc1	C	A	3: 35,975,873	M429I	probably damaging	Het
Metrnl	A	G	11: 121,707,924	E40G	probably benign	Het
Mrgpra1	A	G	7: 47,335,470	S154P	probably damaging	Het
Myh13	A	T	11: 67,341,270	I459F	probably damaging	Het
Nedd4l	C	A	18: 65,172,927	D424E	probably damaging	Het
Nid1	C	T	13: 13,499,741	R902W	probably damaging	Het
Nphp4	G	A	4: 152,554,546	R878K	probably benign	Het
Numa1	A	G	7: 102,013,566	T1997A	probably damaging	Het
Nutm1	G	A	2: 112,248,936	A878V	probably benign	Het
Nxf1	G	A	19: 8,766,798	A339T	probably benign	Het
Oas1b	C	A	5: 120,814,513	Q90K	probably benign	Het
Olfr1175-ps	A	G	2: 88,323,156	I183T	probably damaging	Het
Olfr1305	A	T	2: 111,873,050	D268E	possibly damaging	Het
Olfr186	G	T	16: 59,027,897	D3E	probably benign	Het
Olfr199	G	T	16: 59,215,859	F251L	probably damaging	Het
Olfr398	A	G	11: 73,984,008	F200S	probably damaging	Het
Olfr721-ps1	A	C	14: 14,407,729	Y167S	possibly damaging	Het
Olfr998	A	G	2: 85,590,938	T133A	probably benign	Het
Optn	T	C	2: 5,054,627	M27V	probably benign	Het
Oxgr1	T	C	14: 120,022,364	I144V	probably benign	Het
Pax5	T	A	4: 44,570,086	T127S	probably damaging	Het
Pcsk2	T	C	2: 143,687,679		probably null	Het
Pdxk	A	G	10: 78,464,792	V19A	possibly damaging	Het
Pik3c2a	A	T	7: 116,417,825	S232R	probably damaging	Het
Ppip5k1	T	C	2: 121,340,848	D620G	possibly damaging	Het
Ppp4r4	T	A	12: 103,590,858		probably null	Het
Pqlc2	G	T	4: 139,300,001	H343Q	probably benign	Het
Psmd1	A	G	1: 86,078,712	N267D	probably damaging	Het
Pudp	A	G	18: 50,568,065	V199A	probably damaging	Het
Rasal3	T	A	17: 32,396,781	D361V	probably damaging	Het
Rbm12	T	C	2: 156,096,564	D596G	possibly damaging	Het
Rbm6	T	C	9: 107,852,903	D182G	probably damaging	Het
Rif1	T	C	2: 52,112,747	V2071A	probably damaging	Het
Rilp	C	T	11: 75,510,641	A110V	possibly damaging	Het
Rprd2	A	G	3: 95,774,333	V332A	probably benign	Het
Sbpl	T	A	17: 23,953,330	D205V	unknown	Het
Scn9a	T	C	2: 66,540,623	I538V	probably benign	Het
Serpina1d	T	C	12: 103,767,824	S74G	possibly damaging	Het
Serpina3n	T	C	12: 104,409,110	I147T	possibly damaging	Het
Serpinb8	A	G	1: 107,604,742	N188S	probably benign	Het
Sipa1l3	A	G	7: 29,377,641	V902A	probably damaging	Het
Slc25a47	T	A	12: 108,855,334	L123Q	probably damaging	Het
Slc30a2	A	T	4: 134,344,006		probably null	Het
Snx13	T	A	12: 35,098,286	D271E	probably damaging	Het
Tbc1d9b	A	G	11: 50,171,298	N1211S	probably benign	Het
Thbs1	T	C	2: 118,114,792	V282A	probably benign	Het
Tmc8	A	G	11: 117,791,605		probably null	Het
Trim11	T	A	11: 58,988,924	F284Y	probably null	Het
Ttn	G	T	2: 76,721,797	Y29419*	probably null	Het
Ttn	A	G	2: 76,769,603	Y19076H	probably damaging	Het
Ubr4	T	C	4: 139,421,733	S448P	possibly damaging	Het
Ugt2b34	T	C	5: 86,891,473	E443G	probably damaging	Het
Usp29	A	G	7: 6,961,391	T78A	probably damaging	Het
Vmn1r227	A	G	17: 20,735,134		noncoding transcript	Het
Vmn1r85	A	T	7: 13,084,861	W119R	probably damaging	Het
Vmn2r12	A	T	5: 109,086,513	V611E	probably damaging	Het
Vmn2r97	A	T	17: 18,929,288	M313L	probably benign	Het
Zap70	T	C	1: 36,779,173	Y314H	probably damaging	Het
Zfp667	T	A	7: 6,305,685	F451I	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
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'- CCAGAGCTGCTTTCTTAGTGC -3'
(R):5'- CCCTCAGGTCCTCTTAACAAG -3'

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

Posted On

2015-12-29