Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01019:Tdrd3'

53975

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tdrd3

Ensembl Gene

ENSMUSG00000022019

Gene Name

tudor domain containing 3

Synonyms

4732418C03Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.428) question?

Stock #

IGL01019

Quality Score

Status

Chromosome

Chromosomal Location

87416639-87545504 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87472182 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 94 (T94K)

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: T100K

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

SMART Domains

Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: T100K

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: T100K

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

SMART Domains

Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
AA Change: T100K

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: T88K

SMART Domains

Protein: ENSMUSP00000126212
Gene: ENSMUSG00000022019
AA Change: T88K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170865
AA Change: T94K

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

SMART Domains

Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: T94K

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	T	3: 37,006,984		probably null	Het
9930022D16Rik	T	C	11: 109,417,911		probably benign	Het
Aatk	T	C	11: 120,012,275	S375G	probably benign	Het
Abcg8	T	C	17: 84,691,995	M173T	probably benign	Het
B3galt2	A	C	1: 143,646,757	R210S	probably benign	Het
Capn5	C	T	7: 98,135,764	A168T	probably damaging	Het
Cbx7	C	T	15: 79,930,628	G24D	probably damaging	Het
Ccdc7a	A	T	8: 129,061,618	S77T	probably benign	Het
Cd200r2	T	A	16: 44,909,469		probably benign	Het
Cdh11	T	C	8: 102,679,745	H32R	probably benign	Het
Chdh	A	T	14: 30,031,332	N66I	probably benign	Het
Clca3a2	G	A	3: 144,813,627	Q263*	probably null	Het
Dcc	T	C	18: 71,809,090	I319V	probably benign	Het
Depdc5	G	T	5: 32,893,401	M170I	probably damaging	Het
Dopey2	T	A	16: 93,810,229	L2140Q	probably benign	Het
Frem3	G	A	8: 80,615,134	G1352E	probably benign	Het
Fsd1l	T	A	4: 53,694,742	C389S	probably damaging	Het
Grin2c	C	T	11: 115,258,110	A221T	possibly damaging	Het
Gstz1	C	A	12: 87,163,801	P153T	probably damaging	Het
Itgb2	T	C	10: 77,542,403	S22P	possibly damaging	Het
Krt87	G	T	15: 101,438,431	Q114K	possibly damaging	Het
Krtap5-4	A	C	7: 142,303,910	S106R	unknown	Het
Lats1	T	C	10: 7,705,671	V740A	probably damaging	Het
Mcm9	C	A	10: 53,629,945	G78C	probably damaging	Het
Mn1	G	A	5: 111,421,547	E1128K	possibly damaging	Het
Myo1f	G	A	17: 33,593,003	R592H	possibly damaging	Het
Nfat5	G	T	8: 107,367,514	A277S	probably damaging	Het
Nfkbia	T	A	12: 55,490,542	Y254F	probably damaging	Het
Nr3c2	A	T	8: 76,909,214	N315Y	probably damaging	Het
Otof	T	C	5: 30,405,216	M258V	probably benign	Het
Panx3	C	T	9: 37,661,471	C261Y	probably damaging	Het
Pdia2	C	A	17: 26,198,922	G38W	probably damaging	Het
Psg19	G	T	7: 18,794,046	Y257*	probably null	Het
Ptpre	A	T	7: 135,678,325	K586*	probably null	Het
Reps1	A	G	10: 18,124,895	R752G	probably damaging	Het
Rpgrip1	T	A	14: 52,131,176	D277E	possibly damaging	Het
Rpl21-ps6	A	G	17: 55,915,671		noncoding transcript	Het
Serpinf2	T	A	11: 75,436,507	E198V	possibly damaging	Het
Sh3tc1	A	G	5: 35,703,375	L1046P	probably damaging	Het
Snw1	T	C	12: 87,450,941	E426G	probably benign	Het
Sord	T	A	2: 122,264,083	N317K	probably benign	Het
Taar3	A	T	10: 23,950,432	D292V	probably damaging	Het
Ttn	C	A	2: 76,856,821	E736*	probably null	Het
Usp32	A	G	11: 85,039,265	V562A	probably damaging	Het
Vmn1r169	T	G	7: 23,577,186	M1R	probably null	Het
Vmn2r3	C	T	3: 64,259,883	C609Y	probably damaging	Het
Vmn2r69	T	C	7: 85,406,531	T800A	probably benign	Het
Vmn2r72	G	A	7: 85,738,334	T674I	probably benign	Het
Zfp160	T	A	17: 21,020,826	M52K	possibly damaging	Het
Zfp607a	T	A	7: 27,878,617	C371S	probably damaging	Het

Other mutations in Tdrd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-06-28