Mutagenetix > Incidental Mutation

Incidental Mutation 'R8499:Ythdf3'

658402

Institutional Source

Beutler Lab

Gene Symbol

Ythdf3

Ensembl Gene

ENSMUSG00000047213

Gene Name

YTH N6-methyladenosine RNA binding protein 3

Synonyms

9130022A11Rik

MMRRC Submission

067941-MU

Accession Numbers

Essential gene?

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

Stock #

R8499 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16237376-16271201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16259179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 442 (E442G)

Ref Sequence

ENSEMBL: ENSMUSP00000103982 (fasta)

Gene Model

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

AlphaFold

Q8BYK6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108345
AA Change: E442G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103982
Gene: ENSMUSG00000047213
AA Change: E442G

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

possibly damaging
Transcript: ENSMUST00000108346
AA Change: E453G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103983
Gene: ENSMUSG00000047213
AA Change: E453G

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

possibly damaging
Transcript: ENSMUST00000191774
AA Change: E446G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141610
Gene: ENSMUSG00000047213
AA Change: E446G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (49/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	G	8: 41,208,189 (GRCm39)	D485G	probably damaging	Het
Ap4b1	G	A	3: 103,728,018 (GRCm39)	R344Q	probably damaging	Het
Apol7c	G	T	15: 77,410,280 (GRCm39)	P222Q	possibly damaging	Het
Atf6b	T	C	17: 34,869,796 (GRCm39)	L272P	probably damaging	Het
Atp11b	G	T	3: 35,864,854 (GRCm39)	R559I	probably benign	Het
Bhmt	T	A	13: 93,756,600 (GRCm39)	I343F	probably benign	Het
Btbd7	A	T	12: 102,754,631 (GRCm39)	F712I	probably damaging	Het
Card14	T	C	11: 119,222,070 (GRCm39)	L455P	probably benign	Het
Cast	A	T	13: 74,946,835 (GRCm39)	H26Q	probably benign	Het
Clcn1	A	G	6: 42,284,133 (GRCm39)	N567S	probably damaging	Het
Cnot6l	A	T	5: 96,225,176 (GRCm39)	W506R	probably damaging	Het
Dynap	T	A	18: 70,374,044 (GRCm39)	I161L	unknown	Het
Eif4g3	A	C	4: 137,893,239 (GRCm39)	T996P	probably damaging	Het
Exoc8	A	G	8: 125,623,849 (GRCm39)	Y173H	probably benign	Het
Fbll1	C	T	11: 35,688,907 (GRCm39)	V119M	probably damaging	Het
Fbxw22	A	T	9: 109,214,068 (GRCm39)	F249L	probably benign	Het
Fxyd1	C	A	7: 30,752,529 (GRCm39)		probably benign	Het
Grhl3	C	A	4: 135,276,549 (GRCm39)		probably null	Het
Grk4	A	G	5: 34,902,690 (GRCm39)	E414G	possibly damaging	Het
H2bc8	T	A	13: 23,755,880 (GRCm39)	S92T	probably benign	Het
H2-Q5	A	G	17: 35,613,820 (GRCm39)	D123G		Het
H2-Q5	C	T	17: 35,613,945 (GRCm39)	R165*	probably null	Het
Hgf	A	T	5: 16,771,854 (GRCm39)	E160D	probably damaging	Het
Ifi211	T	C	1: 173,733,086 (GRCm39)	I192V	probably benign	Het
Klk1b22	T	C	7: 43,762,144 (GRCm39)	F7L	probably benign	Het
Lcmt1	C	A	7: 123,029,371 (GRCm39)	T331N	probably benign	Het
Lrrc36	A	T	8: 106,176,168 (GRCm39)	T181S	possibly damaging	Het
Ltbp3	T	A	19: 5,798,712 (GRCm39)	S520T	probably benign	Het
Nacc1	A	T	8: 85,403,345 (GRCm39)	C177S	probably damaging	Het
Nedd4l	T	A	18: 65,342,728 (GRCm39)	V888E	probably damaging	Het
Oc90	C	T	15: 65,753,405 (GRCm39)	G305S	probably damaging	Het
Or51a25	A	G	7: 102,372,932 (GRCm39)	V255A	probably damaging	Het
Or52i2	T	A	7: 102,320,012 (GRCm39)	I295N	probably damaging	Het
Pappa2	T	A	1: 158,764,092 (GRCm39)	D473V	probably damaging	Het
Pou2f2	C	A	7: 24,799,623 (GRCm39)	G117C	probably damaging	Het
Prkci	A	G	3: 31,079,366 (GRCm39)	H68R	probably damaging	Het
Pygm	A	G	19: 6,440,392 (GRCm39)	K479E	probably damaging	Het
Qpct	A	G	17: 79,384,996 (GRCm39)	D212G	probably damaging	Het
Sh3glb2	A	T	2: 30,249,216 (GRCm39)	M1K	probably null	Het
Slc22a5	A	G	11: 53,758,469 (GRCm39)	S444P	probably damaging	Het
Snai3	G	A	8: 123,183,144 (GRCm39)	H134Y	probably benign	Het
Synpo	T	C	18: 60,736,044 (GRCm39)	D395G	probably damaging	Het
Tmem63c	C	T	12: 87,119,738 (GRCm39)	T344I	probably damaging	Het
Tnfsf14	A	G	17: 57,497,534 (GRCm39)	Y233H		Het
Ttn	A	G	2: 76,749,335 (GRCm39)	F3905L	probably benign	Het
Tubgcp5	T	A	7: 55,454,363 (GRCm39)	H219Q	possibly damaging	Het
Usp16	C	T	16: 87,271,536 (GRCm39)	T364M	possibly damaging	Het
Vmn1r59	C	T	7: 5,457,750 (GRCm39)	M3I	probably benign	Het
Vmn2r61	T	A	7: 41,949,700 (GRCm39)	C707S	probably damaging	Het
Vps13b	T	C	15: 35,841,466 (GRCm39)	S2499P	probably damaging	Het
Zfp1001	T	C	2: 150,204,907 (GRCm39)	S74P	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
R2850:Ythdf3	UTSW	3	16,257,982 (GRCm39)	splice site	probably benign
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
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'- GGCTTCAACCAGAACAATGG -3'
(R):5'- CTTCCACTTATCCTGAGACCAG -3'

Sequencing Primer
(F):5'- CAGGCAGTGAAAACTTTGGTTTAG -3'
(R):5'- GACACCAGCATAAGCATTATAGTC -3'

Posted On

2021-01-18