Incidental Mutation 'R8406:Ythdf2'
ID 652402
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 067765-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.502) question?
Stock # R8406 (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 G at 131931946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 405 (W405R)
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: W405R

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120414
Gene: ENSMUSG00000040025
AA Change: W405R

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,977,343 (GRCm39) F139L probably damaging Het
Adgrg6 A T 10: 14,343,082 (GRCm39) D288E probably benign Het
Agbl1 A G 7: 76,068,415 (GRCm39) E327G Het
Aipl1 T A 11: 71,922,332 (GRCm39) M126L possibly damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Arl3 A T 19: 46,530,823 (GRCm39) S157T probably benign Het
Armc3 A T 2: 19,240,365 (GRCm39) I41F probably damaging Het
Atg9a A C 1: 75,167,028 (GRCm39) Y8D probably damaging Het
Atp10b T G 11: 43,093,984 (GRCm39) H509Q probably benign Het
Cabyr C A 18: 12,883,804 (GRCm39) T97K probably benign Het
Ccdc91 T C 6: 147,438,920 (GRCm39) F174S possibly damaging Het
Cep350 A T 1: 155,798,164 (GRCm39) H1207Q probably benign Het
Clstn3 A T 6: 124,439,136 (GRCm39) N40K probably damaging Het
Col4a4 G A 1: 82,501,611 (GRCm39) P381S unknown Het
Cpne5 A T 17: 29,428,455 (GRCm39) F116Y probably benign Het
Csf2rb2 T C 15: 78,171,216 (GRCm39) T457A probably benign Het
Cyb5d2 T C 11: 72,679,959 (GRCm39) E112G probably benign Het
Cyp2b13 T C 7: 25,781,223 (GRCm39) F212L probably benign Het
Dlx6 T G 6: 6,863,779 (GRCm39) S134A probably benign Het
Egln1 A G 8: 125,638,489 (GRCm39) Y380H probably benign Het
Fbxl13 A T 5: 21,728,652 (GRCm39) I479N probably damaging Het
Fhip1a G T 3: 85,580,027 (GRCm39) P726Q probably benign Het
Fis1 A G 5: 136,991,865 (GRCm39) K20E probably benign Het
Foxk1 G T 5: 142,387,528 (GRCm39) V84L unknown Het
Gdf5 C A 2: 155,784,272 (GRCm39) G227W probably damaging Het
Ghrh T A 2: 157,175,656 (GRCm39) T13S probably benign Het
Gnb2 A G 5: 137,526,865 (GRCm39) L308P probably damaging Het
Grik2 A T 10: 49,148,863 (GRCm39) V574D probably damaging Het
Hydin A T 8: 111,336,543 (GRCm39) I5107F possibly damaging Het
Kl A T 5: 150,906,229 (GRCm39) Y533F probably benign Het
Man2b1 G T 8: 85,822,907 (GRCm39) R816L probably damaging Het
Myo5c T C 9: 75,182,823 (GRCm39) Y821H probably damaging Het
Myo7b A T 18: 32,092,866 (GRCm39) C2076S probably damaging Het
Naip6 C T 13: 100,436,784 (GRCm39) A580T possibly damaging Het
Nectin2 A T 7: 19,472,275 (GRCm39) V38E probably damaging Het
Or13a24 A T 7: 140,154,044 (GRCm39) probably benign Het
Osbpl9 T C 4: 108,921,770 (GRCm39) Y536C possibly damaging Het
Pcdh18 T G 3: 49,710,998 (GRCm39) I106L probably damaging Het
Pde4dip T C 3: 97,606,428 (GRCm39) K2149E probably benign Het
Pds5a A T 5: 65,803,681 (GRCm39) C588S probably benign Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pop1 T C 15: 34,529,316 (GRCm39) M812T probably benign Het
Pou2f3 T C 9: 43,051,153 (GRCm39) T178A probably damaging Het
Rab44 C T 17: 29,359,294 (GRCm39) A494V unknown Het
Ros1 G C 10: 51,977,941 (GRCm39) T1456S possibly damaging Het
Rubcnl T G 14: 75,289,425 (GRCm39) F644L probably damaging Het
Saraf C T 8: 34,632,602 (GRCm39) P227L probably benign Het
Sh3glb1 T G 3: 144,397,198 (GRCm39) E383D probably damaging Het
Sh3rf3 T C 10: 58,919,407 (GRCm39) V508A probably damaging Het
Sirt6 A T 10: 81,458,328 (GRCm39) H308Q probably benign Het
Slc29a1 T A 17: 45,900,706 (GRCm39) I119F probably damaging Het
Smtnl1 C T 2: 84,648,742 (GRCm39) E171K probably benign Het
Spg11 T A 2: 121,923,923 (GRCm39) E799D probably damaging Het
Tecpr1 A T 5: 144,137,658 (GRCm39) W894R probably damaging Het
Tiam2 A C 17: 3,558,065 (GRCm39) I1230L possibly damaging Het
Tnfrsf8 A G 4: 145,019,265 (GRCm39) L190P probably damaging Het
Trim35 C T 14: 66,534,724 (GRCm39) T69M possibly damaging Het
Ttll7 T C 3: 146,645,779 (GRCm39) Y546H probably benign Het
Ubash3b C T 9: 40,940,971 (GRCm39) G389R probably damaging Het
Vma21-ps C T 4: 52,497,034 (GRCm39) V71I probably damaging Het
Vmn1r43 T A 6: 89,847,414 (GRCm39) H24L possibly damaging Het
Vps37c T A 19: 10,687,719 (GRCm39) L60Q probably damaging Het
Zfp775 T C 6: 48,597,637 (GRCm39) C504R probably damaging Het
Zfp82 A G 7: 29,761,652 (GRCm39) probably null Het
Zpr1 T A 9: 46,185,400 (GRCm39) I127N probably 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
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
R8916:Ythdf2 UTSW 4 131,931,830 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAACTCCACAGAAGTGTCC -3'
(R):5'- TCAGCTCTCAGTCCAGCAAC -3'

Sequencing Primer
(F):5'- AGAAGTGTCCACTGCCGTTGAC -3'
(R):5'- GCAACAGGCAGCTCAGC -3'
Posted On 2020-10-20