Incidental Mutation 'IGL02935:Ythdc2'
ID 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
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02935
Quality Score
Status
Chromosome 18
Chromosomal Location 44961521-45022787 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 44988112 bp (GRCm39)
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

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
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik G A 13: 54,709,675 (GRCm39) P13L possibly damaging Het
A930016O22Rik A T 7: 19,154,338 (GRCm39) probably benign Het
Ajuba A G 14: 54,807,924 (GRCm39) F436S probably damaging Het
Bptf C A 11: 106,971,625 (GRCm39) A961S probably damaging Het
Brca1 A G 11: 101,380,693 (GRCm39) V1780A probably benign Het
Bub1 A G 2: 127,643,215 (GRCm39) L1043S probably damaging Het
Cngb3 T A 4: 19,425,491 (GRCm39) M433K possibly damaging Het
Col4a1 T C 8: 11,269,166 (GRCm39) D928G probably damaging Het
Colq G A 14: 31,257,591 (GRCm39) P259S probably damaging Het
Csmd1 T C 8: 16,273,348 (GRCm39) Y828C probably damaging Het
Dennd5a T C 7: 109,520,514 (GRCm39) R448G possibly damaging Het
Dip2c A G 13: 9,712,182 (GRCm39) D1435G probably damaging Het
Dst T A 1: 34,225,926 (GRCm39) L1188* probably null Het
Duox1 G T 2: 122,155,000 (GRCm39) G462C possibly damaging Het
Flcn A T 11: 59,686,062 (GRCm39) I402N possibly damaging Het
Fuca2 G A 10: 13,383,063 (GRCm39) E344K probably null Het
Golim4 T C 3: 75,802,299 (GRCm39) H331R possibly damaging Het
Grid1 A T 14: 34,544,515 (GRCm39) I29F possibly damaging Het
Hltf T A 3: 20,123,215 (GRCm39) F201Y probably damaging Het
Ipo8 A T 6: 148,691,339 (GRCm39) I677N probably benign Het
Meioc A G 11: 102,563,017 (GRCm39) T72A probably benign Het
Meox2 A T 12: 37,159,104 (GRCm39) H92L probably damaging Het
Mlec C A 5: 115,295,873 (GRCm39) R74L probably benign Het
Mrpl58 G A 11: 115,301,054 (GRCm39) probably benign Het
Mtch1 T C 17: 29,555,184 (GRCm39) D288G probably benign Het
Myo16 A G 8: 10,582,990 (GRCm39) E1090G probably benign Het
Nicn1 A G 9: 108,167,845 (GRCm39) N39S probably benign Het
Nlrp9c A G 7: 26,084,701 (GRCm39) S293P probably benign Het
Or2bd2 G A 7: 6,443,753 (GRCm39) V285M possibly damaging Het
Or51b4 T C 7: 103,530,871 (GRCm39) N193S probably damaging Het
Or5al1 G T 2: 85,990,714 (GRCm39) probably benign Het
Pcdh20 T A 14: 88,704,438 (GRCm39) probably benign Het
Peg3 C A 7: 6,714,128 (GRCm39) V365F probably damaging Het
Penk A G 4: 4,133,843 (GRCm39) F268S probably damaging Het
Pitrm1 T A 13: 6,603,300 (GRCm39) Y116N probably damaging Het
Prex1 C A 2: 166,412,265 (GRCm39) G389C probably damaging Het
Ptch2 C T 4: 116,971,967 (GRCm39) A1163V probably damaging Het
Rasgrp3 G A 17: 75,804,065 (GRCm39) V123I probably benign Het
Slc36a2 G T 11: 55,060,854 (GRCm39) N185K possibly damaging Het
Sox9 G T 11: 112,676,175 (GRCm39) G455C probably damaging Het
St6galnac1 G T 11: 116,660,171 (GRCm39) D47E probably benign Het
Taar5 A T 10: 23,847,415 (GRCm39) D271V probably damaging Het
Top3a A T 11: 60,653,354 (GRCm39) I85K possibly damaging Het
Ttll8 T A 15: 88,798,759 (GRCm39) M659L probably benign Het
Other mutations in Ythdc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Ythdc2 APN 18 44,993,040 (GRCm39) missense probably benign
IGL00341:Ythdc2 APN 18 44,983,464 (GRCm39) missense probably benign 0.00
IGL00502:Ythdc2 APN 18 44,980,879 (GRCm39) missense probably damaging 0.99
IGL00585:Ythdc2 APN 18 44,997,428 (GRCm39) missense probably damaging 1.00
IGL01081:Ythdc2 APN 18 44,983,726 (GRCm39) missense probably benign 0.19
IGL01569:Ythdc2 APN 18 45,020,718 (GRCm39) missense probably benign
IGL01577:Ythdc2 APN 18 44,991,349 (GRCm39) missense probably benign 0.00
IGL01617:Ythdc2 APN 18 44,974,482 (GRCm39) missense possibly damaging 0.53
IGL01674:Ythdc2 APN 18 44,993,471 (GRCm39) missense probably benign 0.04
IGL01736:Ythdc2 APN 18 44,983,735 (GRCm39) missense probably damaging 0.97
IGL02095:Ythdc2 APN 18 45,006,207 (GRCm39) splice site probably benign
IGL02245:Ythdc2 APN 18 44,995,751 (GRCm39) missense possibly damaging 0.74
IGL02524:Ythdc2 APN 18 44,980,921 (GRCm39) missense probably damaging 0.98
IGL02542:Ythdc2 APN 18 44,973,308 (GRCm39) missense probably damaging 1.00
IGL02622:Ythdc2 APN 18 44,993,001 (GRCm39) missense probably damaging 0.99
IGL02795:Ythdc2 APN 18 44,970,505 (GRCm39) missense possibly damaging 0.95
PIT4618001:Ythdc2 UTSW 18 44,967,665 (GRCm39) missense probably benign 0.19
R0115:Ythdc2 UTSW 18 44,974,490 (GRCm39) splice site probably benign
R0329:Ythdc2 UTSW 18 44,998,127 (GRCm39) splice site probably benign
R0472:Ythdc2 UTSW 18 44,997,424 (GRCm39) missense probably benign 0.02
R0530:Ythdc2 UTSW 18 44,983,465 (GRCm39) missense probably damaging 0.99
R0547:Ythdc2 UTSW 18 44,973,331 (GRCm39) missense possibly damaging 0.92
R0563:Ythdc2 UTSW 18 44,997,915 (GRCm39) splice site probably benign
R0609:Ythdc2 UTSW 18 44,997,424 (GRCm39) missense probably benign 0.02
R1291:Ythdc2 UTSW 18 44,988,276 (GRCm39) missense probably benign 0.33
R1469:Ythdc2 UTSW 18 44,997,529 (GRCm39) missense probably benign 0.00
R1469:Ythdc2 UTSW 18 44,997,529 (GRCm39) missense probably benign 0.00
R1724:Ythdc2 UTSW 18 44,961,757 (GRCm39) missense probably benign 0.04
R1860:Ythdc2 UTSW 18 45,006,023 (GRCm39) missense possibly damaging 0.86
R2040:Ythdc2 UTSW 18 44,988,241 (GRCm39) nonsense probably null
R2308:Ythdc2 UTSW 18 44,980,815 (GRCm39) missense possibly damaging 0.95
R3711:Ythdc2 UTSW 18 44,966,240 (GRCm39) missense probably damaging 0.98
R4005:Ythdc2 UTSW 18 44,966,195 (GRCm39) missense probably benign 0.00
R4580:Ythdc2 UTSW 18 44,991,265 (GRCm39) missense possibly damaging 0.81
R4631:Ythdc2 UTSW 18 45,020,698 (GRCm39) missense probably benign 0.03
R4815:Ythdc2 UTSW 18 45,018,307 (GRCm39) missense probably benign 0.40
R4924:Ythdc2 UTSW 18 44,980,871 (GRCm39) missense probably damaging 1.00
R4982:Ythdc2 UTSW 18 45,004,532 (GRCm39) missense probably benign 0.01
R5011:Ythdc2 UTSW 18 44,987,809 (GRCm39) missense probably benign 0.38
R5141:Ythdc2 UTSW 18 44,998,114 (GRCm39) missense probably benign 0.01
R5147:Ythdc2 UTSW 18 44,977,359 (GRCm39) missense probably damaging 0.98
R5280:Ythdc2 UTSW 18 44,993,688 (GRCm39) missense probably damaging 1.00
R5388:Ythdc2 UTSW 18 44,990,092 (GRCm39) missense possibly damaging 0.65
R5928:Ythdc2 UTSW 18 44,966,272 (GRCm39) missense probably benign
R5931:Ythdc2 UTSW 18 45,006,023 (GRCm39) missense possibly damaging 0.86
R5995:Ythdc2 UTSW 18 45,019,320 (GRCm39) missense probably damaging 1.00
R6027:Ythdc2 UTSW 18 44,993,503 (GRCm39) missense probably benign 0.02
R6056:Ythdc2 UTSW 18 44,973,277 (GRCm39) missense probably damaging 0.98
R6318:Ythdc2 UTSW 18 44,993,444 (GRCm39) missense probably benign 0.04
R6399:Ythdc2 UTSW 18 45,019,469 (GRCm39) missense possibly damaging 0.93
R6586:Ythdc2 UTSW 18 44,978,855 (GRCm39) missense probably benign 0.00
R6684:Ythdc2 UTSW 18 45,006,136 (GRCm39) missense possibly damaging 0.47
R7040:Ythdc2 UTSW 18 44,967,529 (GRCm39) missense probably benign 0.02
R7071:Ythdc2 UTSW 18 44,978,855 (GRCm39) missense probably benign 0.00
R7105:Ythdc2 UTSW 18 44,967,630 (GRCm39) missense probably damaging 1.00
R7148:Ythdc2 UTSW 18 44,966,189 (GRCm39) missense probably benign 0.42
R7290:Ythdc2 UTSW 18 44,970,558 (GRCm39) missense possibly damaging 0.50
R7806:Ythdc2 UTSW 18 44,983,491 (GRCm39) missense probably benign 0.05
R7806:Ythdc2 UTSW 18 44,977,353 (GRCm39) missense possibly damaging 0.91
R8114:Ythdc2 UTSW 18 45,010,807 (GRCm39) missense probably benign 0.15
R8820:Ythdc2 UTSW 18 44,967,531 (GRCm39) nonsense probably null
R8840:Ythdc2 UTSW 18 44,993,691 (GRCm39) missense probably damaging 1.00
R8998:Ythdc2 UTSW 18 44,997,371 (GRCm39) missense probably benign 0.31
R9065:Ythdc2 UTSW 18 44,977,418 (GRCm39) missense probably benign 0.00
R9196:Ythdc2 UTSW 18 44,988,464 (GRCm39) missense probably damaging 0.96
R9251:Ythdc2 UTSW 18 44,974,442 (GRCm39) missense probably benign 0.00
R9331:Ythdc2 UTSW 18 44,970,499 (GRCm39) missense possibly damaging 0.87
R9469:Ythdc2 UTSW 18 45,019,383 (GRCm39) missense probably damaging 1.00
R9634:Ythdc2 UTSW 18 45,006,037 (GRCm39) missense probably benign
Posted On 2015-12-18