Mutagenetix > Incidental Mutation

Incidental Mutation 'R8985:Tdrd3'

683991

Institutional Source

Beutler Lab

Gene Symbol

Tdrd3

Ensembl Gene

ENSMUSG00000022019

Gene Name

tudor domain containing 3

Synonyms

4732418C03Rik

MMRRC Submission

068818-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.508) question?

Stock #

R8985 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87416639-87545504 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87506161 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 515 (E515G)

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

possibly damaging
Transcript: ENSMUST00000168275
AA Change: E515G

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129019
Gene: ENSMUSG00000022019
AA Change: E515G

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: E515G

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131542
Gene: ENSMUSG00000022019
AA Change: E515G

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: ENSMUST00000170865
AA Change: E509G

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126189
Gene: ENSMUSG00000022019
AA Change: E509G

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: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (74/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,087,711 (GRCm38)		probably benign	Het
Agbl1	C	A	7: 76,320,156 (GRCm38)	S53R		Het
Ahr	T	C	12: 35,526,737 (GRCm38)	K65R	possibly damaging	Het
AI429214	A	T	8: 36,993,666 (GRCm38)		probably benign	Het
Ankrd52	T	C	10: 128,387,109 (GRCm38)	S643P	probably damaging	Het
Asz1	T	C	6: 18,051,337 (GRCm38)	T448A	probably benign	Het
Atp10a	A	G	7: 58,788,344 (GRCm38)	I425V	probably benign	Het
Casd1	T	A	6: 4,624,399 (GRCm38)	Y397*	probably null	Het
Ccdc162	A	G	10: 41,556,106 (GRCm38)	I1797T	probably damaging	Het
Cdc20b	A	T	13: 113,059,796 (GRCm38)	R152*	probably null	Het
Cdc25b	T	C	2: 131,193,260 (GRCm38)	C313R	probably damaging	Het
Cfap73	T	A	5: 120,630,058 (GRCm38)	T212S	probably benign	Het
Chd9	G	T	8: 90,994,473 (GRCm38)	R963L	unknown	Het
Clip4	G	T	17: 71,806,532 (GRCm38)	V226F	probably damaging	Het
Cmya5	A	G	13: 93,097,156 (GRCm38)	S475P	possibly damaging	Het
Cntn5	A	G	9: 10,171,955 (GRCm38)	Y75H	possibly damaging	Het
Crtc1	T	G	8: 70,402,442 (GRCm38)	H176P	probably damaging	Het
Cspg5	T	C	9: 110,256,434 (GRCm38)	W558R	unknown	Het
Cyp2c39	A	G	19: 39,563,975 (GRCm38)	T371A	probably benign	Het
Dcaf8	G	A	1: 172,172,632 (GRCm38)	R119H	probably benign	Het
Drosha	G	T	15: 12,924,101 (GRCm38)	A1190S	possibly damaging	Het
Dst	T	C	1: 34,249,805 (GRCm38)	V5655A	probably benign	Het
Etnk1	C	G	6: 143,195,227 (GRCm38)		probably benign	Het
Flnc	T	A	6: 29,440,500 (GRCm38)	V269D	probably benign	Het
Foxs1	T	A	2: 152,933,138 (GRCm38)		probably benign	Het
Ftsj3	T	C	11: 106,250,769 (GRCm38)	Y551C	possibly damaging	Het
Fzd6	A	T	15: 39,031,624 (GRCm38)	H395L	probably damaging	Het
Grm6	C	T	11: 50,855,710 (GRCm38)	A289V	possibly damaging	Het
Hook1	A	G	4: 96,022,231 (GRCm38)	D694G	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331 (GRCm38)		probably benign	Het
Igha	T	C	12: 113,258,991 (GRCm38)	E270G		Het
Itga2b	C	A	11: 102,465,462 (GRCm38)		probably benign	Het
Jade1	A	C	3: 41,613,713 (GRCm38)	S739R	probably benign	Het
Lpin3	T	C	2: 160,896,754 (GRCm38)	S209P	probably benign	Het
Ly6i	A	C	15: 74,979,957 (GRCm38)	L121R	probably damaging	Het
Ms4a1	C	T	19: 11,254,691 (GRCm38)	V107I	probably benign	Het
Mycbpap	T	A	11: 94,513,896 (GRCm38)	T74S	probably benign	Het
Nlrp14	A	G	7: 107,197,229 (GRCm38)	N921D	probably benign	Het
Nmur1	C	T	1: 86,386,381 (GRCm38)	E388K	probably benign	Het
Nol4	T	C	18: 22,952,237 (GRCm38)	Y40C	probably damaging	Het
Olfr376	T	C	11: 73,375,426 (GRCm38)	S229P	possibly damaging	Het
Olfr639	A	T	7: 104,012,160 (GRCm38)	C181S	probably damaging	Het
Olfr916	A	T	9: 38,658,325 (GRCm38)	Y22*	probably null	Het
Pawr	G	A	10: 108,412,000 (GRCm38)	V283M	possibly damaging	Het
Pde6b	T	C	5: 108,430,637 (GRCm38)	Y814H	probably benign	Het
Pds5b	T	A	5: 150,800,774 (GRCm38)	L1272H	probably benign	Het
Pkd1l2	T	C	8: 117,038,110 (GRCm38)	T1350A	probably benign	Het
Plcz1	T	A	6: 140,016,177 (GRCm38)	Q216L	possibly damaging	Het
Prodh	A	T	16: 18,072,498 (GRCm38)	C522S	probably null	Het
Rasef	G	T	4: 73,790,723 (GRCm38)	P91Q	possibly damaging	Het
Rgs14	G	A	13: 55,383,421 (GRCm38)		probably benign	Het
Rnase6	A	T	14: 51,130,175 (GRCm38)	Y8F	unknown	Het
Rnf216	T	A	5: 143,090,425 (GRCm38)	T235S	probably benign	Het
Slco2a1	G	A	9: 103,072,635 (GRCm38)		probably null	Het
Smoc1	A	G	12: 81,179,487 (GRCm38)	E362G	probably damaging	Het
Sncaip	T	C	18: 52,869,097 (GRCm38)	L230P	probably benign	Het
Tipin	T	A	9: 64,288,103 (GRCm38)		probably null	Het
Tmem9	T	A	1: 136,027,407 (GRCm38)	V93D	possibly damaging	Het
Tpm3-rs7	A	C	14: 113,315,324 (GRCm38)	I217L	probably benign	Het
Ttc41	A	T	10: 86,731,092 (GRCm38)	I541F	possibly damaging	Het
Uck2	T	C	1: 167,243,112 (GRCm38)	D16G	probably benign	Het
Vmn1r50	A	G	6: 90,108,035 (GRCm38)	D254G	probably benign	Het
Vmn2r50	A	C	7: 10,046,047 (GRCm38)	F469C	probably damaging	Het
Vmn2r57	A	G	7: 41,399,835 (GRCm38)	V830A	probably benign	Het
Wwc2	T	A	8: 47,878,884 (GRCm38)	R299S	probably benign	Het
Xdh	C	T	17: 73,921,351 (GRCm38)	G352R	probably damaging	Het
Xkr9	A	T	1: 13,700,766 (GRCm38)	M169L	probably benign	Het
Zbtb10	A	G	3: 9,280,747 (GRCm38)	D767G	probably damaging	Het
Zfp106	T	C	2: 120,535,596 (GRCm38)	Y65C		Het
Zfp536	A	G	7: 37,568,803 (GRCm38)	L396P	probably damaging	Het
Znhit1	C	A	5: 136,982,554 (GRCm38)	C135F	probably damaging	Het
Zscan5b	A	G	7: 6,238,835 (GRCm38)	E351G	probably damaging	Het

Other mutations in Tdrd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01019:Tdrd3	APN	14	87,472,182 (GRCm38)	missense	probably damaging	1.00
IGL01339:Tdrd3	APN	14	87,480,794 (GRCm38)	missense	possibly damaging	0.75
IGL01565:Tdrd3	APN	14	87,472,232 (GRCm38)	missense	probably benign	0.01
IGL02505:Tdrd3	APN	14	87,511,682 (GRCm38)	missense	probably damaging	1.00
R0121:Tdrd3	UTSW	14	87,539,479 (GRCm38)	missense	probably damaging	1.00
R0550:Tdrd3	UTSW	14	87,486,220 (GRCm38)	missense	probably damaging	1.00
R0648:Tdrd3	UTSW	14	87,472,182 (GRCm38)	missense	probably damaging	1.00
R1080:Tdrd3	UTSW	14	87,506,398 (GRCm38)	missense	probably benign	0.00
R1099:Tdrd3	UTSW	14	87,487,239 (GRCm38)	missense	probably damaging	1.00
R1126:Tdrd3	UTSW	14	87,480,774 (GRCm38)	missense	probably damaging	1.00
R1370:Tdrd3	UTSW	14	87,458,054 (GRCm38)	intron	probably benign
R1592:Tdrd3	UTSW	14	87,505,886 (GRCm38)	missense	probably damaging	1.00
R1881:Tdrd3	UTSW	14	87,486,347 (GRCm38)	splice site	probably null
R2096:Tdrd3	UTSW	14	87,506,352 (GRCm38)	nonsense	probably null
R2162:Tdrd3	UTSW	14	87,480,785 (GRCm38)	missense	probably damaging	0.98
R3833:Tdrd3	UTSW	14	87,480,785 (GRCm38)	missense	probably damaging	0.98
R3947:Tdrd3	UTSW	14	87,506,599 (GRCm38)	missense	probably damaging	1.00
R4421:Tdrd3	UTSW	14	87,486,283 (GRCm38)	missense	probably damaging	1.00
R4783:Tdrd3	UTSW	14	87,472,101 (GRCm38)	missense	probably damaging	1.00
R4957:Tdrd3	UTSW	14	87,505,787 (GRCm38)	missense	probably benign	0.06
R5212:Tdrd3	UTSW	14	87,506,215 (GRCm38)	missense	probably damaging	0.98
R5291:Tdrd3	UTSW	14	87,505,798 (GRCm38)	missense	probably benign	0.21
R5318:Tdrd3	UTSW	14	87,477,463 (GRCm38)	critical splice donor site	probably null
R5383:Tdrd3	UTSW	14	87,480,791 (GRCm38)	nonsense	probably null
R5718:Tdrd3	UTSW	14	87,506,440 (GRCm38)	missense	probably benign	0.05
R6240:Tdrd3	UTSW	14	87,505,886 (GRCm38)	missense	probably damaging	1.00
R6292:Tdrd3	UTSW	14	87,506,254 (GRCm38)	missense	probably benign
R6532:Tdrd3	UTSW	14	87,505,816 (GRCm38)	missense	probably damaging	0.98
R6850:Tdrd3	UTSW	14	87,458,079 (GRCm38)	intron	probably benign
R6958:Tdrd3	UTSW	14	87,457,096 (GRCm38)	missense	probably damaging	1.00
R7224:Tdrd3	UTSW	14	87,477,403 (GRCm38)	missense	probably damaging	1.00
R7240:Tdrd3	UTSW	14	87,458,803 (GRCm38)	missense	probably benign	0.06
R7565:Tdrd3	UTSW	14	87,506,593 (GRCm38)	nonsense	probably null
R7818:Tdrd3	UTSW	14	87,472,200 (GRCm38)	missense	probably damaging	1.00
R7861:Tdrd3	UTSW	14	87,472,154 (GRCm38)	missense	probably damaging	1.00
R8108:Tdrd3	UTSW	14	87,486,266 (GRCm38)	missense	possibly damaging	0.95
R8206:Tdrd3	UTSW	14	87,511,778 (GRCm38)	missense	probably benign	0.11
R8383:Tdrd3	UTSW	14	87,506,308 (GRCm38)	missense	probably benign	0.26
R8786:Tdrd3	UTSW	14	87,472,201 (GRCm38)	nonsense	probably null
R9081:Tdrd3	UTSW	14	87,506,281 (GRCm38)	missense	probably benign	0.00
R9520:Tdrd3	UTSW	14	87,487,260 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGAGTAGTTCCTCAGGTTCTG -3'
(R):5'- TTTGGAACACCAAGACTATTGC -3'

Sequencing Primer
(F):5'- CAGGTTCTGATGTATGGGCAGAAG -3'
(R):5'- AGACTATTGCTCTGCACAGG -3'

Posted On

2021-10-11