Incidental Mutation 'R1246:Ythdf2'
ID 152147
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 039313-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.502) question?
Stock # R1246 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 131912227-131939567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 131932182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 326 (T326M)
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: T326M

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120414
Gene: ENSMUSG00000040025
AA Change: T326M

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.7%
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029F12Rik T C 13: 97,166,803 (GRCm39) D71G unknown Het
Gm11563 T C 11: 99,549,674 (GRCm39) T27A unknown Het
Gm7361 G T 5: 26,466,225 (GRCm39) E196* probably null Het
Ltbp1 T A 17: 75,692,156 (GRCm39) Y1273* probably null Het
Nol8 T A 13: 49,830,245 (GRCm39) W1110R probably damaging Het
Or52b4 T A 7: 102,184,149 (GRCm39) L65H probably damaging Het
Or56b2 C A 7: 104,337,371 (GRCm39) L50I possibly damaging Het
Or8b1 T C 9: 38,400,086 (GRCm39) S254P probably damaging Het
Pde4d T A 13: 110,087,507 (GRCm39) W625R probably damaging Het
Pigg T C 5: 108,489,686 (GRCm39) Y631H probably damaging Het
Pik3cd A G 4: 149,744,257 (GRCm39) Y165H probably damaging Het
Rap1gap A G 4: 137,439,405 (GRCm39) E114G possibly damaging Het
Tubb2b G A 13: 34,312,130 (GRCm39) T221I possibly damaging Het
Zzef1 A G 11: 72,765,735 (GRCm39) I1421V 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
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
Predicted Primers PCR Primer
(F):5'- GATGAAAACCCGGCCATGTTTCAG -3'
(R):5'- TTGCAGGATCAAGTCTTCCACCAC -3'

Sequencing Primer
(F):5'- GGCCATGTTTCAGATTCCAG -3'
(R):5'- CCCCCAATAAAGCATAACATGG -3'
Posted On 2014-01-29