Incidental Mutation 'R6586:Ythdf2'
ID 524387
Institutional Source Beutler Lab
Gene Symbol Ythdf2
Ensembl Gene ENSMUSG00000040025
Gene Name YTH N6-methyladenosine RNA binding protein 2
Synonyms NY-REN-2, 9430020E02Rik, HGRG8
MMRRC Submission 044710-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.502) question?
Stock # R6586 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 131912227-131939567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 131932911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 83 (M83K)
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 probably benign
Transcript: ENSMUST00000152796
AA Change: M83K

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120414
Gene: ENSMUSG00000040025
AA Change: M83K

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 unknown
Transcript: ENSMUST00000165072
AA Change: M58K
SMART Domains Protein: ENSMUSP00000129225
Gene: ENSMUSG00000040025
AA Change: M58K

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
Meta Mutation Damage Score 0.4365 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (40/40)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T C 4: 137,182,639 (GRCm39) F265L possibly damaging Het
9930022D16Rik A G 11: 109,308,786 (GRCm39) T51A unknown Het
Acaa1a A G 9: 119,178,604 (GRCm39) probably null Het
Clasp2 T C 9: 113,642,332 (GRCm39) S280P probably damaging Het
Cnga3 T C 1: 37,300,359 (GRCm39) S398P probably damaging Het
Cngb3 T G 4: 19,280,946 (GRCm39) L5R probably damaging Het
Cyp2c65 T C 19: 39,070,662 (GRCm39) F282L possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dnm2 T C 9: 21,416,942 (GRCm39) F825S probably benign Het
Egfem1 T A 3: 29,716,560 (GRCm39) C343* probably null Het
Fah T A 7: 84,242,468 (GRCm39) D280V probably benign Het
Fiz1 C T 7: 5,011,400 (GRCm39) A373T possibly damaging Het
Flg A T 3: 93,200,290 (GRCm39) probably benign Het
Flnb A G 14: 7,929,138 (GRCm38) R1956G possibly damaging Het
Mterf2 A G 10: 84,955,970 (GRCm39) F218S probably damaging Het
Nlrp1a A G 11: 70,996,899 (GRCm39) V868A probably benign Het
Nrip2 T A 6: 128,381,911 (GRCm39) C85* probably null Het
Ogfrl1 T G 1: 23,408,944 (GRCm39) K427N probably benign Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Or51v14 T A 7: 103,261,183 (GRCm39) I126F possibly damaging Het
Palm A C 10: 79,645,365 (GRCm39) N111H probably benign Het
Pipox T C 11: 77,772,005 (GRCm39) D373G possibly damaging Het
Plec C T 15: 76,059,287 (GRCm39) G3540D probably damaging Het
Psd3 T C 8: 68,416,197 (GRCm39) T567A probably damaging Het
Psg28 T C 7: 18,164,469 (GRCm39) Y81C probably damaging Het
Rarres1 A T 3: 67,398,366 (GRCm39) N131K probably damaging Het
Rbbp8nl G A 2: 179,922,752 (GRCm39) H214Y probably damaging Het
Styxl2 T C 1: 165,928,454 (GRCm39) E386G possibly damaging Het
Tas2r135 A G 6: 42,382,952 (GRCm39) T164A probably benign Het
Tmco3 G T 8: 13,370,894 (GRCm39) probably benign Het
Tnpo2 T A 8: 85,771,831 (GRCm39) M259K possibly damaging Het
Tns4 T C 11: 98,971,093 (GRCm39) R206G probably benign Het
Trim60 G T 8: 65,453,248 (GRCm39) L334I possibly damaging Het
Ttn T C 2: 76,560,754 (GRCm39) T29216A probably damaging Het
Urb2 G T 8: 124,757,864 (GRCm39) E1190D probably damaging Het
Vmn1r60 T A 7: 5,547,446 (GRCm39) N218I probably benign Het
Vps25 T G 11: 101,149,835 (GRCm39) V125G probably damaging Het
Ythdc2 A G 18: 44,978,855 (GRCm39) D455G probably benign 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
IGL02156:Ythdf2 APN 4 131,931,819 (GRCm39) missense possibly damaging 0.49
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
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
Predicted Primers PCR Primer
(F):5'- GAGAACTGTTATTTCCCCATGCTG -3'
(R):5'- TTTGTAGTGATGGCTCAACTCC -3'

Sequencing Primer
(F):5'- TGCTGAGAAGTCAATCCCACTGG -3'
(R):5'- GTAGTGATGGCTCAACTCCTTAAG -3'
Posted On 2018-06-22