Incidental Mutation 'R8916:Ythdf2'
ID 678930
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.502) question?
Stock # R8916 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 131912227-131939567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 131931830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 443 (D443E)
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 probably damaging
Transcript: ENSMUST00000152796
AA Change: D443E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120414
Gene: ENSMUSG00000040025
AA Change: D443E

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 A G 13: 70,941,307 (GRCm39) L360S probably damaging Het
AW554918 T C 18: 25,423,049 (GRCm39) Y167H probably damaging Het
Cdh18 A T 15: 23,410,813 (GRCm39) I433F probably damaging Het
Cenpj A T 14: 56,790,352 (GRCm39) F566I probably damaging Het
Cntn4 T A 6: 106,652,915 (GRCm39) Y795N probably damaging Het
Col4a4 C T 1: 82,501,667 (GRCm39) G362E unknown Het
Crebrf A G 17: 26,958,583 (GRCm39) T18A probably damaging Het
D130043K22Rik G A 13: 25,056,254 (GRCm39) V529I probably benign Het
Dars2 T C 1: 160,881,552 (GRCm39) T326A probably benign Het
Eif4e T C 3: 138,256,043 (GRCm39) probably benign Het
Enpp2 T C 15: 54,733,722 (GRCm39) M413V possibly damaging Het
Fbn1 T C 2: 125,245,149 (GRCm39) D246G possibly damaging Het
Foxred2 A G 15: 77,837,514 (GRCm39) S241P probably damaging Het
Fras1 T C 5: 96,900,774 (GRCm39) F2998L probably damaging Het
Garin4 A G 1: 190,895,857 (GRCm39) I262T probably benign Het
Grb10 T C 11: 11,901,599 (GRCm39) T192A probably benign Het
Grid1 G A 14: 35,043,664 (GRCm39) D340N probably damaging Het
Heatr5a AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA 12: 51,934,702 (GRCm39) probably benign Het
Hinfp A T 9: 44,209,673 (GRCm39) F234I probably damaging Het
Hmcn1 A T 1: 150,649,530 (GRCm39) I652N probably damaging Het
Kif24 T C 4: 41,394,963 (GRCm39) K771E probably benign Het
Lhcgr A G 17: 89,061,170 (GRCm39) probably null Het
Lnpk A T 2: 74,358,486 (GRCm39) S358T probably benign Het
Lpcat2 A T 8: 93,596,316 (GRCm39) M118L probably benign Het
Lypd1 T A 1: 125,801,120 (GRCm39) T127S unknown Het
Mettl23 C T 11: 116,740,111 (GRCm39) T194I probably damaging Het
Mga T C 2: 119,788,819 (GRCm39) V2227A possibly damaging Het
Mus81 A T 19: 5,534,214 (GRCm39) V368E probably damaging Het
Myo3a T A 2: 22,457,704 (GRCm39) F1046I probably damaging Het
Nfia G A 4: 97,888,667 (GRCm39) V222I probably benign Het
Niban2 T A 2: 32,811,106 (GRCm39) M372K possibly damaging Het
Nop9 A G 14: 55,991,101 (GRCm39) E586G probably benign Het
Nr2e1 G A 10: 42,443,864 (GRCm39) A286V possibly damaging Het
Nup153 G A 13: 46,863,462 (GRCm39) Q300* probably null Het
Plaat1 A G 16: 29,039,259 (GRCm39) D113G possibly damaging Het
Pnp2 T C 14: 51,201,234 (GRCm39) L202P probably damaging Het
Prss3b T A 6: 41,010,103 (GRCm39) H77L probably damaging Het
Psen2 A G 1: 180,063,495 (GRCm39) F183L probably benign Het
Rint1 G T 5: 23,992,826 (GRCm39) probably benign Het
Rsf1 GGC GGCGGCGGCCGC 7: 97,229,140 (GRCm39) probably benign Het
Ryr3 C A 2: 112,608,635 (GRCm39) R2335L probably damaging Het
Scn1a T C 2: 66,108,127 (GRCm39) D1544G probably damaging Het
Sec31b A C 19: 44,520,783 (GRCm39) S175A Het
Sgcg A G 14: 61,474,341 (GRCm39) S101P probably damaging Het
Shb A T 4: 45,489,154 (GRCm39) S241T probably damaging Het
Slc47a2 A T 11: 61,193,118 (GRCm39) L545Q probably damaging Het
Spata31g1 C A 4: 42,973,034 (GRCm39) P789H probably damaging Het
Spef2 C A 15: 9,725,266 (GRCm39) E164* probably null Het
Sphkap A T 1: 83,255,108 (GRCm39) N880K possibly damaging Het
Taf2 A G 15: 54,899,931 (GRCm39) V894A probably benign Het
Tgfa T G 6: 86,248,436 (GRCm39) L146R probably damaging Het
Tlr3 C T 8: 45,856,076 (GRCm39) V35I probably benign Het
Tlr4 G A 4: 66,847,268 (GRCm39) V132I probably benign Het
Tsen34 C T 7: 3,697,340 (GRCm39) probably benign Het
Ttc13 T G 8: 125,409,976 (GRCm39) K412T probably damaging Het
Unc45b A G 11: 82,804,038 (GRCm39) I72V probably benign Het
Vmn1r195 A G 13: 22,463,139 (GRCm39) Y203C probably damaging Het
Vmn2r65 T A 7: 84,595,665 (GRCm39) T340S probably benign Het
Vmn2r88 T A 14: 51,648,593 (GRCm39) C46S Het
Zeb2 T C 2: 44,886,796 (GRCm39) R754G probably damaging Het
Zfp236 T A 18: 82,664,351 (GRCm39) E478V probably damaging Het
Zfp287 A T 11: 62,605,136 (GRCm39) Y590* probably null Het
Zfp9 A T 6: 118,442,223 (GRCm39) C146* probably null 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
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
Predicted Primers PCR Primer
(F):5'- CGCAGTTGGCTATTGGGAAC -3'
(R):5'- GGTTCTGGATCTACTCCTTCAG -3'

Sequencing Primer
(F):5'- GGCTATTGGGAACGTCCTTCAC -3'
(R):5'- TTCAGAGCCTCACCCGGTG -3'
Posted On 2021-08-02