Incidental Mutation 'IGL01569:Ythdc2'
ID 91081
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 # IGL01569
Quality Score
Status
Chromosome 18
Chromosomal Location 44961521-45022787 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45020718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1434 (E1434G)
Ref Sequence ENSEMBL: ENSMUSP00000048340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037763] [ENSMUST00000201507]
AlphaFold B2RR83
Predicted Effect probably benign
Transcript: ENSMUST00000037763
AA Change: E1434G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048340
Gene: ENSMUSG00000034653
AA Change: E1434G

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 benign
Transcript: ENSMUST00000201507
SMART Domains Protein: ENSMUSP00000144479
Gene: ENSMUSG00000034653

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
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,215,827 (GRCm39) V311A probably benign Het
Bdh1 T C 16: 31,273,909 (GRCm39) M194T probably benign Het
Dnmbp T C 19: 43,863,295 (GRCm39) R808G probably benign Het
Esco2 T C 14: 66,063,977 (GRCm39) I402M probably benign Het
Gm5422 T C 10: 31,125,897 (GRCm39) noncoding transcript Het
Il5ra C A 6: 106,708,794 (GRCm39) M1I probably null Het
Kcnk4 T A 19: 6,904,545 (GRCm39) I240F probably damaging Het
Mast4 T C 13: 102,897,523 (GRCm39) E698G probably damaging Het
Mkln1 A G 6: 31,405,063 (GRCm39) probably benign Het
Mypn C T 10: 62,963,538 (GRCm39) G978R probably damaging Het
Or2m12 T C 16: 19,105,410 (GRCm39) T28A probably benign Het
Podn T A 4: 107,881,496 (GRCm39) Y6F probably damaging Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Rad54l T C 4: 115,956,195 (GRCm39) D544G probably damaging Het
Reck C A 4: 43,925,172 (GRCm39) S470R probably benign Het
Sik3 A G 9: 46,123,024 (GRCm39) H891R probably benign Het
Tbata C T 10: 61,011,739 (GRCm39) R92* probably null Het
Tdrd1 A G 19: 56,822,841 (GRCm39) N103S probably damaging Het
Timm21 A G 18: 84,969,400 (GRCm39) V8A probably benign Het
Tnn A G 1: 159,948,124 (GRCm39) V863A possibly damaging Het
Togaram1 A G 12: 65,029,436 (GRCm39) D953G possibly damaging Het
Tpm1 T C 9: 66,938,390 (GRCm39) probably null Het
Trgv4 A G 13: 19,369,678 (GRCm39) probably benign Het
Vmn1r8 A T 6: 57,013,272 (GRCm39) N108Y possibly damaging Het
Vmn1r89 T C 7: 12,953,432 (GRCm39) M56T 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
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
IGL02935:Ythdc2 APN 18 44,988,112 (GRCm39) missense probably damaging 1.00
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 2013-12-09