Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01565:Tdrd3'

90972

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 #

IGL01565

Quality Score

Status

Chromosome

Chromosomal Location

87416639-87545504 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87472232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 117 (I117L)

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 benign
Transcript: ENSMUST00000168275
AA Change: I117L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: I117L

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 benign
Transcript: ENSMUST00000169504
AA Change: I117L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
AA Change: I117L

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: I105L

SMART Domains

Protein: ENSMUSP00000126212
Gene: ENSMUSG00000022019
AA Change: I105L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170865
AA Change: I111L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: I111L

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	G	10: 100,603,360	T36A	probably damaging	Het
Ankrd35	A	G	3: 96,684,785	M796V	probably damaging	Het
Brpf1	A	T	6: 113,316,650	Q560L	probably damaging	Het
Dbil5	T	G	11: 76,218,265		probably benign	Het
Dnah9	T	C	11: 66,033,829	K2200E	possibly damaging	Het
Gtf2i	T	C	5: 134,255,913	I471V	probably damaging	Het
Has3	T	A	8: 106,874,445	W180R	probably benign	Het
Lrfn1	T	C	7: 28,458,769	C38R	probably damaging	Het
Lrsam1	C	T	2: 32,936,495	A455T	probably damaging	Het
Mettl2	C	A	11: 105,126,538	D14E	probably benign	Het
Mocs1	G	A	17: 49,452,320	R364Q	probably benign	Het
Ndst2	A	T	14: 20,728,206	V435E	probably damaging	Het
Pi4ka	A	T	16: 17,389,442		probably benign	Het
Pigr	A	C	1: 130,844,474	D143A	possibly damaging	Het
Polq	A	C	16: 37,013,113	N56T	probably benign	Het
Prmt7	T	G	8: 106,250,409	D584E	probably damaging	Het
R3hdm1	A	T	1: 128,186,816	Q511H	probably damaging	Het
Rbm33	T	C	5: 28,391,079		probably benign	Het
Rdh19	T	G	10: 127,859,595	M226R	probably benign	Het
Rock2	G	A	12: 16,953,317	D386N	possibly damaging	Het
Slc7a2	A	G	8: 40,899,238	T96A	possibly damaging	Het
Spata2	A	G	2: 167,484,294	S202P	probably damaging	Het
Swsap1	T	A	9: 21,957,228	D265E	possibly damaging	Het
Ticrr	A	G	7: 79,694,548	D1387G	probably benign	Het
Tnfaip6	A	G	2: 52,055,834	S231G	probably damaging	Het
Trim50	T	A	5: 135,367,501	D434E	probably benign	Het
Tyw5	T	C	1: 57,394,081	Y105C	probably damaging	Het
Usp50	G	T	2: 126,777,968	C141*	probably null	Het
Zfp647	A	T	15: 76,911,670	C263*	probably null	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
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

2013-12-09