Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02935:Ythdc2'

364270

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 #

IGL02935

Quality Score

Status

Chromosome

Chromosomal Location

44827746-44889724 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44855045 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 656 (R656C)

Ref Sequence

ENSEMBL: ENSMUSP00000048340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037763] [ENSMUST00000201507]

AlphaFold

B2RR83

Predicted Effect

probably damaging
Transcript: ENSMUST00000037763
AA Change: R656C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048340
Gene: ENSMUSG00000034653
AA Change: R656C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000201507
AA Change: R1C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144479
Gene: ENSMUSG00000034653
AA Change: R1C

Domain	Start	End	E-Value	Type
HELICc	5	104	9.1e-19	SMART
HA2	168	261	2e-26	SMART
Pfam:OB_NTP_bind	298	427	6e-16	PFAM
low complexity region	570	582	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202176

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	G	A	13: 54,561,862	P13L	possibly damaging	Het
A930016O22Rik	A	T	7: 19,420,413		probably benign	Het
Ajuba	A	G	14: 54,570,467	F436S	probably damaging	Het
Bptf	C	A	11: 107,080,799	A961S	probably damaging	Het
Brca1	A	G	11: 101,489,867	V1780A	probably benign	Het
Bub1	A	G	2: 127,801,295	L1043S	probably damaging	Het
Cngb3	T	A	4: 19,425,491	M433K	possibly damaging	Het
Col4a1	T	C	8: 11,219,166	D928G	probably damaging	Het
Colq	G	A	14: 31,535,634	P259S	probably damaging	Het
Csmd1	T	C	8: 16,223,334	Y828C	probably damaging	Het
Dennd5a	T	C	7: 109,921,307	R448G	possibly damaging	Het
Dip2c	A	G	13: 9,662,146	D1435G	probably damaging	Het
Dst	T	A	1: 34,186,845	L1188*	probably null	Het
Duox1	G	T	2: 122,324,519	G462C	possibly damaging	Het
Flcn	A	T	11: 59,795,236	I402N	possibly damaging	Het
Fuca2	G	A	10: 13,507,319	E344K	probably null	Het
Golim4	T	C	3: 75,894,992	H331R	possibly damaging	Het
Grid1	A	T	14: 34,822,558	I29F	possibly damaging	Het
Hltf	T	A	3: 20,069,051	F201Y	probably damaging	Het
Ipo8	A	T	6: 148,789,841	I677N	probably benign	Het
Meioc	A	G	11: 102,672,191	T72A	probably benign	Het
Meox2	A	T	12: 37,109,105	H92L	probably damaging	Het
Mlec	C	A	5: 115,157,814	R74L	probably benign	Het
Mrpl58	G	A	11: 115,410,228		probably benign	Het
Mtch1	T	C	17: 29,336,210	D288G	probably benign	Het
Myo16	A	G	8: 10,532,990	E1090G	probably benign	Het
Nicn1	A	G	9: 108,290,646	N39S	probably benign	Het
Nlrp9c	A	G	7: 26,385,276	S293P	probably benign	Het
Olfr1042	G	T	2: 86,160,370		probably benign	Het
Olfr1344	G	A	7: 6,440,754	V285M	possibly damaging	Het
Olfr66	T	C	7: 103,881,664	N193S	probably damaging	Het
Pcdh20	T	A	14: 88,467,002		probably benign	Het
Peg3	C	A	7: 6,711,129	V365F	probably damaging	Het
Penk	A	G	4: 4,133,843	F268S	probably damaging	Het
Pitrm1	T	A	13: 6,553,264	Y116N	probably damaging	Het
Prex1	C	A	2: 166,570,345	G389C	probably damaging	Het
Ptch2	C	T	4: 117,114,770	A1163V	probably damaging	Het
Rasgrp3	G	A	17: 75,497,070	V123I	probably benign	Het
Slc36a2	G	T	11: 55,170,028	N185K	possibly damaging	Het
Sox9	G	T	11: 112,785,349	G455C	probably damaging	Het
St6galnac1	G	T	11: 116,769,345	D47E	probably benign	Het
Taar5	A	T	10: 23,971,517	D271V	probably damaging	Het
Top3a	A	T	11: 60,762,528	I85K	possibly damaging	Het
Ttll8	T	A	15: 88,914,556	M659L	probably benign	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
IGL02795:Ythdc2	APN	18	44837438	missense	possibly damaging	0.95
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
R8114:Ythdc2	UTSW	18	44877740	missense	probably benign	0.15
R8820:Ythdc2	UTSW	18	44834464	nonsense	probably null
R8840:Ythdc2	UTSW	18	44860624	missense	probably damaging	1.00
R8998:Ythdc2	UTSW	18	44864304	missense	probably benign	0.31
R9065:Ythdc2	UTSW	18	44844351	missense	probably benign	0.00
R9196:Ythdc2	UTSW	18	44855397	missense	probably damaging	0.96
R9251:Ythdc2	UTSW	18	44841375	missense	probably benign	0.00
R9331:Ythdc2	UTSW	18	44837432	missense	possibly damaging	0.87
R9469:Ythdc2	UTSW	18	44886316	missense	probably damaging	1.00

Posted On

2015-12-18