Incidental Mutation 'IGL02156:Ythdf2'
ID 282217
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ythdf2
Ensembl Gene ENSMUSG00000040025
Gene Name YTH N6-methyladenosine RNA binding protein 2
Synonyms NY-REN-2, 9430020E02Rik, HGRG8
Accession Numbers
Essential gene? Possibly essential (E-score: 0.502) question?
Stock # IGL02156
Quality Score
Status
Chromosome 4
Chromosomal Location 131912227-131939567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 131931819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 447 (R447H)
Ref Sequence ENSEMBL: ENSMUSP00000120414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085181] [ENSMUST00000152796]
AlphaFold Q91YT7
Predicted Effect probably benign
Transcript: ENSMUST00000085181
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102570
Predicted Effect possibly damaging
Transcript: ENSMUST00000152796
AA Change: R447H

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000120414
Gene: ENSMUSG00000040025
AA Change: R447H

DomainStartEndE-ValueType
low complexity region 52 63 N/A INTRINSIC
low complexity region 135 153 N/A INTRINSIC
low complexity region 324 349 N/A INTRINSIC
Pfam:YTH 410 545 1.1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165072
SMART Domains Protein: ENSMUSP00000129225
Gene: ENSMUSG00000040025

DomainStartEndE-ValueType
low complexity region 28 39 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 YTH (YT521-B homology) superfamily containing YTH domain. The YTH domain is typical for the eukaryotes and is particularly abundant in plants. The YTH domain is usually located in the middle of the protein sequence and may function in binding to RNA. In addition to a YTH domain, this protein has a proline rich region which may be involved in signal transduction. An Alu-rich domain has been identified in one of the introns of this gene, which is thought to be associated with human longevity. In addition, reciprocal translocations between this gene and the Runx1 (AML1) gene on chromosome 21 has been observed in patients with acute myeloid leukemia. This gene was initially mapped to chromosome 14, which was later turned out to be a pseudogene. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozgyous for a knock-out allele exhibit female, but not male, infertility and preweaning lethality that is background sensitive. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930408O17Rik G A 12: 104,837,566 (GRCm39) noncoding transcript Het
Adam33 G A 2: 130,895,078 (GRCm39) probably benign Het
Akr7a5 C A 4: 139,041,580 (GRCm39) A163D probably damaging Het
Arap1 T C 7: 101,037,937 (GRCm39) probably benign Het
Asf1a C T 10: 53,482,239 (GRCm39) A17V probably benign Het
Atp1a4 A T 1: 172,085,529 (GRCm39) S25T probably benign Het
Cbln4 T C 2: 171,884,128 (GRCm39) I31V probably benign Het
Ccdc93 T G 1: 121,376,005 (GRCm39) L172R possibly damaging Het
Ceacam9 T C 7: 16,457,544 (GRCm39) probably benign Het
Crhr1 C A 11: 104,054,709 (GRCm39) N107K probably benign Het
Cyp11b1 T A 15: 74,707,646 (GRCm39) M488L probably benign Het
Dnah7a A G 1: 53,458,882 (GRCm39) V3752A probably benign Het
Dnhd1 G A 7: 105,370,951 (GRCm39) V4744M probably damaging Het
Dstyk C A 1: 132,377,664 (GRCm39) N423K probably benign Het
Exph5 T C 9: 53,286,941 (GRCm39) S1341P probably damaging Het
Fam161b T C 12: 84,401,527 (GRCm39) H409R probably benign Het
Fbxo21 A G 5: 118,132,733 (GRCm39) probably benign Het
Flt1 A G 5: 147,618,551 (GRCm39) I230T probably damaging Het
Gm9931 T C 1: 147,157,366 (GRCm39) noncoding transcript Het
Grk6 T C 13: 55,597,174 (GRCm39) F36L possibly damaging Het
Grm1 G T 10: 10,595,720 (GRCm39) A636D probably damaging Het
Hectd1 A T 12: 51,800,916 (GRCm39) probably benign Het
Hltf G A 3: 20,146,971 (GRCm39) V577I possibly damaging Het
Hrob C T 11: 102,145,865 (GRCm39) S47F probably damaging Het
Lrrc8c A G 5: 105,755,359 (GRCm39) D378G probably damaging Het
Mcoln1 C A 8: 3,562,657 (GRCm39) S6* probably null Het
Meis1 A T 11: 18,961,292 (GRCm39) S194T probably benign Het
Myo1h A C 5: 114,491,972 (GRCm39) probably benign Het
Nop9 T A 14: 55,990,740 (GRCm39) C557* probably null Het
Nrap T C 19: 56,309,432 (GRCm39) D1619G probably damaging Het
Or10d1c T A 9: 38,893,842 (GRCm39) Y166F possibly damaging Het
Or4f61 A T 2: 111,922,361 (GRCm39) H228Q probably benign Het
Or7g34 A G 9: 19,478,494 (GRCm39) M59T probably damaging Het
Pard3b T A 1: 61,807,109 (GRCm39) D41E possibly damaging Het
Parp14 G T 16: 35,678,967 (GRCm39) Q334K probably benign Het
Phf3 A T 1: 30,847,859 (GRCm39) I1228K probably damaging Het
Polr1b T A 2: 128,965,799 (GRCm39) F814I probably benign Het
Prr5 A G 15: 84,654,236 (GRCm39) I306V possibly damaging Het
Rsph1 T G 17: 31,477,090 (GRCm39) S282R probably benign Het
Son T C 16: 91,452,992 (GRCm39) S580P possibly damaging Het
Sptbn5 G T 2: 119,878,098 (GRCm39) probably benign Het
Ssr2 T A 3: 88,491,095 (GRCm39) probably null Het
Tfpt A G 7: 3,632,039 (GRCm39) S24P probably damaging Het
Tg A G 15: 66,577,197 (GRCm39) T1507A probably benign Het
Trpm7 A G 2: 126,641,163 (GRCm39) probably benign Het
Wwox G A 8: 115,174,899 (GRCm39) probably null Het
Zfp385c A G 11: 100,519,845 (GRCm39) F368S probably damaging Het
Zfp488 A G 14: 33,692,357 (GRCm39) S269P possibly damaging Het
Zhx1 A C 15: 57,917,445 (GRCm39) V267G possibly damaging Het
Other mutations in Ythdf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01134:Ythdf2 APN 4 131,932,789 (GRCm39) missense probably damaging 1.00
IGL01356:Ythdf2 APN 4 131,932,661 (GRCm39) missense possibly damaging 0.57
IGL01925:Ythdf2 APN 4 131,938,085 (GRCm39) missense probably damaging 1.00
IGL02183:Ythdf2 APN 4 131,932,885 (GRCm39) missense probably benign 0.19
IGL02397:Ythdf2 APN 4 131,938,757 (GRCm39) missense probably damaging 1.00
R0492:Ythdf2 UTSW 4 131,931,779 (GRCm39) missense probably damaging 1.00
R1246:Ythdf2 UTSW 4 131,932,182 (GRCm39) missense probably benign 0.37
R6586:Ythdf2 UTSW 4 131,932,911 (GRCm39) missense probably benign 0.32
R6738:Ythdf2 UTSW 4 131,932,272 (GRCm39) missense probably benign 0.11
R8103:Ythdf2 UTSW 4 131,932,089 (GRCm39) missense probably damaging 1.00
R8406:Ythdf2 UTSW 4 131,931,946 (GRCm39) missense probably damaging 0.97
R8916:Ythdf2 UTSW 4 131,931,830 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16