Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02795:Ythdc2'

359959

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ythdc2

Ensembl Gene

ENSMUSG00000034653

Gene Name

YTH domain containing 2

Synonyms

3010002F02Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02795

Quality Score

Status

Chromosome

Chromosomal Location

44827746-44889724 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44837438 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 273 (E273G)

Ref Sequence

ENSEMBL: ENSMUSP00000048340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037763]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037763
AA Change: E273G

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048340
Gene: ENSMUSG00000034653
AA Change: E273G

Domain	Start	End	E-Value	Type
low complexity region	2	50	N/A	INTRINSIC
Pfam:R3H	59	119	1.7e-15	PFAM
DEXDc	206	393	4.95e-26	SMART
low complexity region	413	428	N/A	INTRINSIC
ANK	521	550	2.79e1	SMART
ANK	554	583	1.5e2	SMART
HELICc	648	759	5.31e-17	SMART
HA2	823	916	2.58e-22	SMART
Pfam:OB_NTP_bind	953	1082	1.3e-18	PFAM
low complexity region	1263	1299	N/A	INTRINSIC
Pfam:YTH	1303	1434	7.2e-50	PFAM

Coding Region Coverage

Validation Efficiency

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 DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein binds to N6-methyladenosine, a common modified RNA nucleotide that is enriched in the stop codons and 3' UTRs of eukaryotic messenger RNAs. Binding of proteins to this modified nucleotide may regulate mRNA translation and stability. This gene may be associated with susceptibility to pancreatic cancer in human patients, and knockdown of this gene resulted in reduced proliferation in a human liver cancer cell line. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit female and male infertility with arrested meiosis and small gonads. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,288,748	L1391P	probably damaging	Het
Abcc3	G	A	11: 94,361,642		probably benign	Het
Acvr1	A	G	2: 58,462,952	I332T	probably damaging	Het
Atp8a2	C	T	14: 60,033,742	V247M	probably damaging	Het
Btn1a1	T	C	13: 23,460,616		probably null	Het
Btnl9	A	T	11: 49,174,867		probably benign	Het
Dbx1	T	A	7: 49,636,577	I47F	probably benign	Het
Dnaja3	A	G	16: 4,690,073		probably benign	Het
Dnmt1	T	C	9: 20,927,111	S220G	probably benign	Het
Dock9	A	T	14: 121,639,978	M451K	probably benign	Het
Eml3	A	G	19: 8,933,778	Y257C	probably benign	Het
Fbxw19	C	A	9: 109,495,818	M10I	possibly damaging	Het
Flg2	C	T	3: 93,203,613	R983W	unknown	Het
Galnt5	C	A	2: 58,027,871	P707H	probably damaging	Het
Gba2	G	T	4: 43,578,331	P6Q	probably damaging	Het
Gm13199	A	G	2: 5,862,673		probably benign	Het
Gpr45	C	T	1: 43,032,493	R99C	possibly damaging	Het
Hecw1	G	A	13: 14,322,517	S302L	probably damaging	Het
Hrg	T	C	16: 22,957,553		probably benign	Het
Kdelc2	A	G	9: 53,392,105	D99G	probably damaging	Het
Lama1	A	G	17: 67,738,894		probably null	Het
Lgr4	T	C	2: 110,008,210		probably benign	Het
Lrrc9	C	T	12: 72,478,768	T830M	probably damaging	Het
Mdga2	T	C	12: 66,689,432	T341A	probably benign	Het
Mms19	C	T	19: 41,952,406		probably null	Het
Nectin1	A	G	9: 43,803,552	S362G	probably benign	Het
Nlrc3	G	T	16: 3,965,285	H87N	probably damaging	Het
Oit1	T	A	14: 8,355,497	M113L	probably benign	Het
Olfr1018	T	A	2: 85,823,512	C180*	probably null	Het
Olfr142	A	G	2: 90,252,562	L142P	probably damaging	Het
Olfr183	G	T	16: 59,000,277	L197F	possibly damaging	Het
Olfr23	G	A	11: 73,940,929	V228I	probably benign	Het
Olfr243	T	A	7: 103,716,883	F96L	probably benign	Het
Pcsk1	G	T	13: 75,112,620	G321C	probably damaging	Het
Prrc2c	G	T	1: 162,714,299	P374T	probably benign	Het
Rusc1	A	T	3: 89,091,950	L175Q	probably damaging	Het
Ryr2	T	C	13: 11,595,190	N4250S	probably benign	Het
Scara5	A	C	14: 65,730,680	N134T	possibly damaging	Het
Sema4d	T	C	13: 51,703,411	K595R	probably benign	Het
Serpinb6a	A	C	13: 33,931,593	L15R	probably damaging	Het
Setdb1	A	T	3: 95,327,373	N1006K	probably damaging	Het
Slc18a2	G	A	19: 59,274,490		probably benign	Het
Slc22a30	C	T	19: 8,400,895	C139Y	probably damaging	Het
Slc25a27	T	A	17: 43,647,112	Y269F	probably damaging	Het
Slc9c1	A	T	16: 45,575,419	D611V	probably benign	Het
Spag6	G	T	2: 18,733,083	V255F	probably benign	Het
St5	T	C	7: 109,556,364	Y393C	probably damaging	Het
Svep1	C	A	4: 58,123,223	G698W	probably damaging	Het
Syne2	T	C	12: 75,966,549	L2839P	probably damaging	Het
Tfb2m	T	C	1: 179,545,959	E58G	possibly damaging	Het
Trim24	A	T	6: 37,919,389	E260D	probably damaging	Het
Ugt2b1	T	A	5: 86,917,701	D493V	probably damaging	Het
Vmn1r27	A	G	6: 58,215,302	V189A	possibly damaging	Het
Vmn2r91	A	G	17: 18,085,277	Q74R	probably benign	Het
Vps25	A	G	11: 101,256,090	Y64C	probably damaging	Het
Xirp2	G	A	2: 67,509,136	G574S	probably damaging	Het

Other mutations in Ythdc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Ythdc2	APN	18	44859973	missense	probably benign
IGL00341:Ythdc2	APN	18	44850397	missense	probably benign	0.00
IGL00502:Ythdc2	APN	18	44847812	missense	probably damaging	0.99
IGL00585:Ythdc2	APN	18	44864361	missense	probably damaging	1.00
IGL01081:Ythdc2	APN	18	44850659	missense	probably benign	0.19
IGL01569:Ythdc2	APN	18	44887651	missense	probably benign
IGL01577:Ythdc2	APN	18	44858282	missense	probably benign	0.00
IGL01617:Ythdc2	APN	18	44841415	missense	possibly damaging	0.53
IGL01674:Ythdc2	APN	18	44860404	missense	probably benign	0.04
IGL01736:Ythdc2	APN	18	44850668	missense	probably damaging	0.97
IGL02095:Ythdc2	APN	18	44873140	splice site	probably benign
IGL02245:Ythdc2	APN	18	44862684	missense	possibly damaging	0.74
IGL02524:Ythdc2	APN	18	44847854	missense	probably damaging	0.98
IGL02542:Ythdc2	APN	18	44840241	missense	probably damaging	1.00
IGL02622:Ythdc2	APN	18	44859934	missense	probably damaging	0.99
IGL02935:Ythdc2	APN	18	44855045	missense	probably damaging	1.00
PIT4618001:Ythdc2	UTSW	18	44834598	missense	probably benign	0.19
R0115:Ythdc2	UTSW	18	44841423	splice site	probably benign
R0329:Ythdc2	UTSW	18	44865060	splice site	probably benign
R0472:Ythdc2	UTSW	18	44864357	missense	probably benign	0.02
R0530:Ythdc2	UTSW	18	44850398	missense	probably damaging	0.99
R0547:Ythdc2	UTSW	18	44840264	missense	possibly damaging	0.92
R0563:Ythdc2	UTSW	18	44864848	splice site	probably benign
R0609:Ythdc2	UTSW	18	44864357	missense	probably benign	0.02
R1291:Ythdc2	UTSW	18	44855209	missense	probably benign	0.33
R1469:Ythdc2	UTSW	18	44864462	missense	probably benign	0.00
R1469:Ythdc2	UTSW	18	44864462	missense	probably benign	0.00
R1724:Ythdc2	UTSW	18	44828690	missense	probably benign	0.04
R1860:Ythdc2	UTSW	18	44872956	missense	possibly damaging	0.86
R2040:Ythdc2	UTSW	18	44855174	nonsense	probably null
R2308:Ythdc2	UTSW	18	44847748	missense	possibly damaging	0.95
R3711:Ythdc2	UTSW	18	44833173	missense	probably damaging	0.98
R4005:Ythdc2	UTSW	18	44833128	missense	probably benign	0.00
R4580:Ythdc2	UTSW	18	44858198	missense	possibly damaging	0.81
R4631:Ythdc2	UTSW	18	44887631	missense	probably benign	0.03
R4815:Ythdc2	UTSW	18	44885240	missense	probably benign	0.40
R4924:Ythdc2	UTSW	18	44847804	missense	probably damaging	1.00
R4982:Ythdc2	UTSW	18	44871465	missense	probably benign	0.01
R5011:Ythdc2	UTSW	18	44854742	missense	probably benign	0.38
R5141:Ythdc2	UTSW	18	44865047	missense	probably benign	0.01
R5147:Ythdc2	UTSW	18	44844292	missense	probably damaging	0.98
R5280:Ythdc2	UTSW	18	44860621	missense	probably damaging	1.00
R5388:Ythdc2	UTSW	18	44857025	missense	possibly damaging	0.65
R5928:Ythdc2	UTSW	18	44833205	missense	probably benign
R5931:Ythdc2	UTSW	18	44872956	missense	possibly damaging	0.86
R5995:Ythdc2	UTSW	18	44886253	missense	probably damaging	1.00
R6027:Ythdc2	UTSW	18	44860436	missense	probably benign	0.02
R6056:Ythdc2	UTSW	18	44840210	missense	probably damaging	0.98
R6318:Ythdc2	UTSW	18	44860377	missense	probably benign	0.04
R6399:Ythdc2	UTSW	18	44886402	missense	possibly damaging	0.93
R6586:Ythdc2	UTSW	18	44845788	missense	probably benign	0.00
R6684:Ythdc2	UTSW	18	44873069	missense	possibly damaging	0.47
R7040:Ythdc2	UTSW	18	44834462	missense	probably benign	0.02
R7071:Ythdc2	UTSW	18	44845788	missense	probably benign	0.00
R7105:Ythdc2	UTSW	18	44834563	missense	probably damaging	1.00
R7148:Ythdc2	UTSW	18	44833122	missense	probably benign	0.42
R7290:Ythdc2	UTSW	18	44837491	missense	possibly damaging	0.50
R7806:Ythdc2	UTSW	18	44844286	missense	possibly damaging	0.91
R7806:Ythdc2	UTSW	18	44850424	missense	probably benign	0.05

Posted On

2015-12-18