Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01339:Tdrd3'

74754

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tdrd3

Ensembl Gene

ENSMUSG00000022019

Gene Name

tudor domain containing 3

Synonyms

4732418C03Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.335) question?

Stock #

IGL01339

Quality Score

Status

Chromosome

Chromosomal Location

87416639-87545504 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87480794 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 210 (V210I)

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

possibly damaging
Transcript: ENSMUST00000168275
AA Change: V210I

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: V210I

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: ENSMUST00000169504
AA Change: V210I

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
AA Change: V210I

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: V198I

SMART Domains

Protein: ENSMUSP00000126212
Gene: ENSMUSG00000022019
AA Change: V198I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170865
AA Change: V204I

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: V204I

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

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bahcc1	A	G	11: 120,289,512	T2565A	probably damaging	Het
C8a	A	C	4: 104,827,985	F354V	probably benign	Het
Cadps	C	T	14: 12,486,543	V876M	possibly damaging	Het
Chmp7	A	T	14: 69,719,406	I351N	probably damaging	Het
Clec7a	A	T	6: 129,465,486	W193R	probably damaging	Het
Clint1	T	C	11: 45,909,019	V535A	probably benign	Het
Clu	A	G	14: 65,975,588	E141G	probably damaging	Het
Cmah	A	T	13: 24,430,549	D159V	probably damaging	Het
Cntn2	A	T	1: 132,518,905		probably null	Het
Cox6a1	C	A	5: 115,345,839		probably benign	Het
Cyp2d10	C	T	15: 82,403,841	A195T	probably benign	Het
Dnah10	G	T	5: 124,777,212	K1901N	probably damaging	Het
Dopey1	G	A	9: 86,551,677	D2329N	possibly damaging	Het
Eipr1	A	G	12: 28,864,771	E308G	probably damaging	Het
Exoc4	T	C	6: 33,305,400		probably benign	Het
Fancd2	A	G	6: 113,553,752	I449V	probably benign	Het
Fbn2	T	C	18: 58,113,370	T487A	possibly damaging	Het
Fbxo40	T	C	16: 36,970,454	E98G	probably damaging	Het
Folh1	G	A	7: 86,726,098	T527I	probably damaging	Het
Gls	C	T	1: 52,188,708	D217N	probably damaging	Het
Gm6994	A	G	14: 77,481,178		probably benign	Het
Gpr149	A	T	3: 62,604,297	W94R	probably damaging	Het
Gpr158	A	G	2: 21,369,031	D259G	possibly damaging	Het
Hcn2	T	C	10: 79,729,068	L438P	probably damaging	Het
Hgd	A	C	16: 37,631,730	T374P	possibly damaging	Het
Ints3	A	G	3: 90,415,156		probably null	Het
Kctd5	A	T	17: 24,057,775	V172E	probably damaging	Het
Lmcd1	A	G	6: 112,310,625	I91V	probably benign	Het
Lrrc37a	A	G	11: 103,497,937	S2221P	unknown	Het
Ltk	T	A	2: 119,752,974	D310V	probably damaging	Het
Luzp1	T	A	4: 136,542,776	M770K	probably damaging	Het
Mxd4	G	A	5: 34,184,346		probably benign	Het
Mzb1	T	A	18: 35,648,346	H71L	probably benign	Het
Necap2	G	A	4: 141,074,965	T63I	probably benign	Het
Nefl	A	G	14: 68,086,482		probably benign	Het
Odam	G	A	5: 87,885,896		probably null	Het
Pcdh18	A	G	3: 49,755,798	I356T	probably benign	Het
Pcx	T	A	19: 4,620,235		probably null	Het
Pde2a	T	C	7: 101,507,159	S593P	probably benign	Het
Rapgef3	A	T	15: 97,758,059	L359M	probably damaging	Het
Rb1	T	C	14: 73,264,371		probably null	Het
Rbm44	A	G	1: 91,168,964	I976V	probably benign	Het
Rdh13	A	T	7: 4,427,624	S278R	probably damaging	Het
Rgma	A	G	7: 73,417,483	E256G	probably damaging	Het
Rnf112	A	T	11: 61,450,477	D402E	probably benign	Het
Rnps1	T	A	17: 24,422,299	D224E	probably damaging	Het
Scn10a	C	T	9: 119,622,766	V1364M	probably damaging	Het
Scn1a	C	T	2: 66,325,960	R535H	probably benign	Het
Scn8a	A	T	15: 101,032,201	D1431V	probably benign	Het
Setdb1	A	T	3: 95,338,580	L677*	probably null	Het
Slc17a8	T	A	10: 89,591,244	I148F	probably damaging	Het
Slx4ip	T	A	2: 137,044,055	C98*	probably null	Het
Sptbn2	T	G	19: 4,745,972	Y1726*	probably null	Het
Tcof1	T	C	18: 60,818,095		probably benign	Het
Tdrd9	G	A	12: 112,040,434	V911M	probably damaging	Het
Tmod4	G	A	3: 95,128,297	R252H	probably benign	Het
Tti1	G	T	2: 158,009,130	P63Q	possibly damaging	Het
Tuft1	A	T	3: 94,628,287	D109E	probably damaging	Het
Wdr63	T	C	3: 146,042,836	Y841C	probably benign	Het
Zcchc2	T	C	1: 106,029,775	S659P	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
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
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

Posted On

2013-10-07