Mutagenetix > Incidental Mutation

Incidental Mutation 'R8383:Tdrd3'

647049

Institutional Source

Beutler Lab

Gene Symbol

Tdrd3

Ensembl Gene

ENSMUSG00000022019

Gene Name

tudor domain containing 3

Synonyms

4732418C03Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8383 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87416639-87545504 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87506308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 564 (I564T)

Ref Sequence

ENSEMBL: ENSMUSP00000129019 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168275] [ENSMUST00000169504] [ENSMUST00000170865]

AlphaFold

Q91W18

PDB Structure

Solution structure of the Tudor domain of Tudor domain containing protein 3 from mouse [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000168275
AA Change: I564T

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: I564T

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: I564T

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
AA Change: I564T

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: ENSMUST00000170865
AA Change: I558T

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

SMART Domains

Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: I558T

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	A	T	5: 121,607,373	M285K	probably damaging	Het
Adcyap1r1	T	C	6: 55,480,000	S239P	probably damaging	Het
Alpk1	A	T	3: 127,724,436	M72K	probably benign	Het
Alpk2	G	T	18: 65,305,398	R975S	probably benign	Het
Ankrd7	A	T	6: 18,868,411	K177N	possibly damaging	Het
Asxl1	A	G	2: 153,393,719	T272A	probably damaging	Het
Ccdc175	A	G	12: 72,109,178	Y666H	possibly damaging	Het
Cyp2j11	T	C	4: 96,348,458	N37S	probably benign	Het
Dglucy	A	G	12: 100,835,329	D81G	probably benign	Het
Dysf	T	A	6: 84,019,583	D22E	probably damaging	Het
Glg1	T	C	8: 111,169,562	T177A	possibly damaging	Het
Gm3415	C	T	5: 146,558,418	P210L	probably benign	Het
Gm7995	A	G	14: 42,311,364	H66R		Het
Habp2	G	A	19: 56,316,336	V388M	probably damaging	Het
Hey2	A	G	10: 30,840,669	S33P	probably benign	Het
Hmbs	C	T	9: 44,337,943	R195H	probably damaging	Het
Hrnr	A	T	3: 93,332,346	Y3297F	unknown	Het
Hspg2	T	A	4: 137,544,370	H2482Q	possibly damaging	Het
Ifi207	GAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	GGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	1: 173,729,204		probably benign	Het
Ifi208	T	A	1: 173,683,509	V410E	possibly damaging	Het
Igkv3-7	A	G	6: 70,607,750	T25A	probably damaging	Het
Il22ra1	A	G	4: 135,734,140	Q72R	probably damaging	Het
Ip6k1	T	A	9: 108,044,727	F207I	possibly damaging	Het
Kdm6b	A	G	11: 69,406,050	S464P	probably benign	Het
Kirrel3	G	T	9: 35,029,883	M601I	probably null	Het
Klk1b1	C	T	7: 43,970,343	R109C	possibly damaging	Het
Kmt2e	A	G	5: 23,485,541	N518S	probably benign	Het
Myo5b	A	G	18: 74,643,978	S370G	probably benign	Het
Nrn1l	T	C	8: 105,894,426	L50P	probably damaging	Het
Nrxn2	A	G	19: 6,472,313	Y411C	probably damaging	Het
Obsl1	G	T	1: 75,503,857	F374L	possibly damaging	Het
Olfr1093	A	G	2: 86,786,530	I267V	probably benign	Het
Olfr344	A	T	2: 36,569,002	I135F	probably benign	Het
Olfr352	A	G	2: 36,870,331	Y255C	probably damaging	Het
Panx3	T	A	9: 37,666,753		probably null	Het
Piezo2	A	T	18: 63,084,688	F1139L	probably damaging	Het
Pld2	G	A	11: 70,551,429	D380N	possibly damaging	Het
Plekha7	A	C	7: 116,144,919	N715K	probably damaging	Het
Pom121l12	T	A	11: 14,599,353	S20T	probably benign	Het
Rasal1	C	T	5: 120,666,355	R431C	probably benign	Het
Rdh8	G	A	9: 20,822,785		probably null	Het
Rgl3	G	A	9: 21,977,233	T427I	probably damaging	Het
Rnf17	TG	T	14: 56,424,542	132	probably null	Het
Sclt1	A	C	3: 41,742,015	I5S	probably benign	Het
Seh1l	A	G	18: 67,775,056	H16R	possibly damaging	Het
Sgca	G	A	11: 94,972,242	P95L	probably benign	Het
Spag17	T	G	3: 100,085,392	S1735A	probably damaging	Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	11: 94,214,377		probably benign	Het
Trpv3	T	G	11: 73,289,301	F524V	probably benign	Het
Ttc41	A	G	10: 86,719,526	N282S	probably benign	Het
Txnrd2	T	C	16: 18,472,864	L421P	possibly damaging	Het
Tyr	A	T	7: 87,483,992	C289S	probably damaging	Het
Ubn1	A	G	16: 5,077,358	E756G	possibly damaging	Het
Vps13a	A	T	19: 16,723,705	M700K	possibly damaging	Het
Zfhx2	A	G	14: 55,074,071	S389P	possibly damaging	Het
Zfp667	T	C	7: 6,305,371	L346P	probably damaging	Het
Zfp945	A	G	17: 22,851,824	M388T	probably benign	Het
Zfp992	A	G	4: 146,466,676	I285V	probably benign	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
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
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

Posted On

2020-09-02