Incidental Mutation 'IGL02795:Ythdc2'
ID359959
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ythdc2
Ensembl Gene ENSMUSG00000034653
Gene NameYTH domain containing 2
Synonyms3010002F02Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02795
Quality Score
Status
Chromosome18
Chromosomal Location44827746-44889724 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44837438 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2015-12-18