Mutagenetix > Incidental Mutation

Incidental Mutation 'R2850:Ythdf3'

252050

Institutional Source

Beutler Lab

Gene Symbol

Ythdf3

Ensembl Gene

ENSMUSG00000047213

Gene Name

YTH N6-methyladenosine RNA binding protein 3

Synonyms

9130022A11Rik

MMRRC Submission

040443-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.307) question?

Stock #

R2850 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16237376-16271201 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 16257982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108345] [ENSMUST00000108346] [ENSMUST00000191774]

AlphaFold

Q8BYK6

Predicted Effect

probably benign
Transcript: ENSMUST00000108345

SMART Domains

Protein: ENSMUSP00000103982
Gene: ENSMUSG00000047213

Domain	Start	End	E-Value	Type
low complexity region	48	64	N/A	INTRINSIC
low complexity region	134	161	N/A	INTRINSIC
low complexity region	244	255	N/A	INTRINSIC
low complexity region	289	351	N/A	INTRINSIC
low complexity region	379	394	N/A	INTRINSIC
Pfam:YTH	415	553	1.5e-50	PFAM
low complexity region	567	582	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108346

SMART Domains

Protein: ENSMUSP00000103983
Gene: ENSMUSG00000047213

Domain	Start	End	E-Value	Type
low complexity region	59	75	N/A	INTRINSIC
low complexity region	145	172	N/A	INTRINSIC
low complexity region	255	266	N/A	INTRINSIC
low complexity region	300	362	N/A	INTRINSIC
low complexity region	390	405	N/A	INTRINSIC
Pfam:YTH	427	562	1.1e-44	PFAM
low complexity region	578	593	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191774

SMART Domains

Protein: ENSMUSP00000141610
Gene: ENSMUSG00000047213

Domain	Start	End	E-Value	Type
low complexity region	52	68	N/A	INTRINSIC
low complexity region	138	165	N/A	INTRINSIC
low complexity region	248	259	N/A	INTRINSIC
low complexity region	293	355	N/A	INTRINSIC
low complexity region	383	398	N/A	INTRINSIC
Pfam:YTH	419	557	1.6e-50	PFAM
low complexity region	571	586	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193598

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the YTH (YT521-B homology) domain protein family. The YTH domain is common in eukaryotes, is often found in the middle of the protein sequence, and may function in binding to RNA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	T	A	13: 12,290,065 (GRCm39)	T734S	probably damaging	Het
Ago1	T	C	4: 126,336,868 (GRCm39)		probably benign	Het
Ahi1	C	T	10: 20,876,492 (GRCm39)	T801I	probably benign	Het
Alms1	T	C	6: 85,598,281 (GRCm39)	S1505P	probably benign	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Anxa6	T	A	11: 54,901,852 (GRCm39)	Y95F	possibly damaging	Het
Cacna1b	C	T	2: 24,651,800 (GRCm39)	M126I	probably damaging	Het
Clk1	A	G	1: 58,451,438 (GRCm39)	L457S	probably damaging	Het
Cngb3	T	C	4: 19,415,690 (GRCm39)	I400T	possibly damaging	Het
Cntnap5c	T	A	17: 58,717,343 (GRCm39)		probably benign	Het
Corin	A	G	5: 72,462,298 (GRCm39)	V837A	probably damaging	Het
Ctr9	C	T	7: 110,652,653 (GRCm39)	R984C	unknown	Het
Cubn	G	A	2: 13,327,764 (GRCm39)	T2687I	probably damaging	Het
Cypt3	T	A	X: 152,342,274 (GRCm39)	N168K	probably damaging	Het
E330020D12Rik	A	G	1: 153,282,336 (GRCm39)		noncoding transcript	Het
Fbxl4	T	C	4: 22,403,624 (GRCm39)	M399T	probably benign	Het
Fbxo22	T	C	9: 55,130,699 (GRCm39)	F323L	probably damaging	Het
Fnip1	A	T	11: 54,393,503 (GRCm39)	E646D	probably benign	Het
Gid4	G	A	11: 60,329,400 (GRCm39)		probably null	Het
Gnb5	A	T	9: 75,234,511 (GRCm39)	D70V	probably damaging	Het
Gpank1	A	G	17: 35,343,557 (GRCm39)	S346G	probably benign	Het
Gtf3c6	T	C	10: 40,130,254 (GRCm39)		probably benign	Het
Hdx	T	C	X: 110,502,720 (GRCm39)	I562V	probably benign	Het
Ifrd2	T	C	9: 107,468,908 (GRCm39)		probably benign	Het
Itch	A	C	2: 155,044,141 (GRCm39)	Q482P	probably benign	Het
Kif11	C	A	19: 37,397,941 (GRCm39)	D630E	probably benign	Het
Lpl	G	T	8: 69,352,164 (GRCm39)	E372*	probably null	Het
Mrps26	T	C	2: 130,406,967 (GRCm39)	V198A	probably benign	Het
Mucl1	T	C	15: 103,782,348 (GRCm39)	N201S	possibly damaging	Het
Nedd4	C	T	9: 72,632,356 (GRCm39)	L397F	possibly damaging	Het
Nfat5	A	G	8: 108,020,492 (GRCm39)	D12G	probably damaging	Het
Or5b102	T	C	19: 13,040,934 (GRCm39)	L53P	probably damaging	Het
Pik3r3	A	G	4: 116,127,981 (GRCm39)		probably benign	Het
Pkd1l3	T	A	8: 110,350,622 (GRCm39)	V489E	possibly damaging	Het
Pkhd1	T	C	1: 20,579,300 (GRCm39)	E1802G	possibly damaging	Het
Plb1	T	A	5: 32,450,568 (GRCm39)	S370T	probably benign	Het
Ppat	G	A	5: 77,067,222 (GRCm39)	T337I	probably benign	Het
Prkd3	A	G	17: 79,262,025 (GRCm39)	V763A	possibly damaging	Het
Prr9	A	T	3: 92,030,476 (GRCm39)	S55T	probably benign	Het
Rbpms	G	T	8: 34,324,405 (GRCm39)	N108K	possibly damaging	Het
Rc3h2	A	T	2: 37,267,427 (GRCm39)	D972E	probably benign	Het
Rrbp1	C	T	2: 143,791,269 (GRCm39)	R1378Q	probably benign	Het
Slc26a7	T	A	4: 14,593,806 (GRCm39)		probably benign	Het
Stard6	T	A	18: 70,616,522 (GRCm39)	H60Q	probably benign	Het
Sult6b2	T	C	6: 142,743,613 (GRCm39)	T138A	probably benign	Het
Th	G	A	7: 142,447,812 (GRCm39)	Q329*	probably null	Het
Tmco3	A	G	8: 13,345,024 (GRCm39)	H268R	probably benign	Het
Tnn	T	C	1: 159,966,857 (GRCm39)	D429G	probably benign	Het
Tnrc6a	G	A	7: 122,779,023 (GRCm39)	G1245R	probably damaging	Het
Trem3	C	A	17: 48,556,669 (GRCm39)	L47M	probably benign	Het
Trpm6	T	A	19: 18,769,454 (GRCm39)	C307S	possibly damaging	Het
Ube2j1	T	A	4: 33,049,696 (GRCm39)	N231K	probably benign	Het
Urb1	A	G	16: 90,571,144 (GRCm39)	Y1222H	probably benign	Het
Wdr81	A	T	11: 75,341,998 (GRCm39)	S1090T	probably damaging	Het
Zfp280d	A	G	9: 72,219,371 (GRCm39)	T183A	probably benign	Het
Zfp354c	G	A	11: 50,706,158 (GRCm39)	Q306*	probably null	Het
Zp2	T	C	7: 119,737,529 (GRCm39)	H252R	probably benign	Het

Other mutations in Ythdf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02585:Ythdf3	APN	3	16,243,642 (GRCm39)	missense	probably benign	0.01
IGL03068:Ythdf3	APN	3	16,258,882 (GRCm39)	missense	possibly damaging	0.92
Disinclined	UTSW	3	16,257,356 (GRCm39)	nonsense	probably null
R0501:Ythdf3	UTSW	3	16,259,236 (GRCm39)	missense	probably damaging	0.98
R0644:Ythdf3	UTSW	3	16,259,056 (GRCm39)	missense	possibly damaging	0.46
R1667:Ythdf3	UTSW	3	16,259,056 (GRCm39)	missense	possibly damaging	0.46
R1940:Ythdf3	UTSW	3	16,259,256 (GRCm39)	missense	possibly damaging	0.71
R2121:Ythdf3	UTSW	3	16,259,356 (GRCm39)	missense	possibly damaging	0.71
R2191:Ythdf3	UTSW	3	16,257,375 (GRCm39)	intron	probably benign
R2341:Ythdf3	UTSW	3	16,257,379 (GRCm39)	intron	probably benign
R2512:Ythdf3	UTSW	3	16,259,059 (GRCm39)	missense	possibly damaging	0.66
R3037:Ythdf3	UTSW	3	16,259,355 (GRCm39)	missense	probably benign	0.32
R4934:Ythdf3	UTSW	3	16,258,220 (GRCm39)	missense	probably damaging	0.97
R5007:Ythdf3	UTSW	3	16,259,362 (GRCm39)	missense	possibly damaging	0.51
R5164:Ythdf3	UTSW	3	16,237,677 (GRCm39)	missense	possibly damaging	0.67
R5172:Ythdf3	UTSW	3	16,258,198 (GRCm39)	missense	probably damaging	1.00
R5480:Ythdf3	UTSW	3	16,237,664 (GRCm39)	missense	possibly damaging	0.83
R5512:Ythdf3	UTSW	3	16,238,086 (GRCm39)	missense	probably damaging	0.98
R6059:Ythdf3	UTSW	3	16,257,356 (GRCm39)	nonsense	probably null
R6104:Ythdf3	UTSW	3	16,259,325 (GRCm39)	missense	possibly damaging	0.51
R6273:Ythdf3	UTSW	3	16,259,020 (GRCm39)	missense	possibly damaging	0.92
R6721:Ythdf3	UTSW	3	16,258,025 (GRCm39)	missense	possibly damaging	0.72
R7187:Ythdf3	UTSW	3	16,258,451 (GRCm39)	missense	probably benign	0.05
R7285:Ythdf3	UTSW	3	16,258,049 (GRCm39)	splice site	probably null
R7307:Ythdf3	UTSW	3	16,237,664 (GRCm39)	missense	possibly damaging	0.83
R7816:Ythdf3	UTSW	3	16,243,681 (GRCm39)	missense	probably damaging	0.96
R8499:Ythdf3	UTSW	3	16,259,179 (GRCm39)	missense	possibly damaging	0.85
R8754:Ythdf3	UTSW	3	16,258,138 (GRCm39)	missense	probably damaging	0.99
R9401:Ythdf3	UTSW	3	16,258,659 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCAGCAAGACTTAACTATAGGGTG -3'
(R):5'- TCCTAATGCCCCTGGTTGAC -3'

Sequencing Primer
(F):5'- GACTTAACTATAGGGTGATGGTACTC -3'
(R):5'- CTGGTTGACTAAAAACACCATCTGG -3'

Posted On

2014-12-04