Incidental Mutation 'R6738:Ythdf2'
ID 530301
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 044856-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.502) question?
Stock # R6738 (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 C at 131932272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Arginine at position 296 (I296R)
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: I296R

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000120414
Gene: ENSMUSG00000040025
AA Change: I296R

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
Meta Mutation Damage Score 0.0619 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (55/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,420,300 (GRCm39) probably benign Het
Abl1 T C 2: 31,684,586 (GRCm39) Y454H probably damaging Het
Ambp A T 4: 63,067,711 (GRCm39) D166E probably benign Het
Amigo2 A G 15: 97,143,345 (GRCm39) V359A possibly damaging Het
Ankrd11 A T 8: 123,618,660 (GRCm39) S1710T probably damaging Het
Ankrd31 T C 13: 97,040,635 (GRCm39) S1713P possibly damaging Het
Arhgap45 A T 10: 79,863,431 (GRCm39) K758M probably damaging Het
Bclaf1 T C 10: 20,199,515 (GRCm39) I304T possibly damaging Het
C1ra A G 6: 124,494,718 (GRCm39) Y327C probably damaging Het
Ccdc73 C T 2: 104,822,433 (GRCm39) S794L probably benign Het
Cd24a A G 10: 43,458,672 (GRCm39) N48D possibly damaging Het
Col11a1 A G 3: 113,906,116 (GRCm39) probably benign Het
Cyp11b2 G A 15: 74,725,363 (GRCm39) T252I possibly damaging Het
Dlx2 A G 2: 71,376,406 (GRCm39) Y111H probably benign Het
Dsp T C 13: 38,376,186 (GRCm39) S1324P possibly damaging Het
Esyt3 A T 9: 99,202,346 (GRCm39) F522I probably damaging Het
Fam193b C T 13: 55,698,174 (GRCm39) A45T probably benign Het
Flnb A G 14: 7,904,536 (GRCm38) T980A probably benign Het
Gabrb2 G T 11: 42,484,758 (GRCm39) A272S possibly damaging Het
H2al2a G T 2: 18,001,429 (GRCm39) Q86K possibly damaging Het
Ikbkb T G 8: 23,165,052 (GRCm39) I243L probably damaging Het
Il18r1 A G 1: 40,537,816 (GRCm39) E527G probably benign Het
Krt35 A T 11: 99,984,535 (GRCm39) V320D probably damaging Het
Krt76 C T 15: 101,795,913 (GRCm39) R419H probably benign Het
Lrp2 T A 2: 69,288,832 (GRCm39) Y3678F probably damaging Het
Mab21l4 G A 1: 93,087,707 (GRCm39) L49F probably benign Het
Mnat1 T G 12: 73,319,246 (GRCm39) S290A probably benign Het
Mptx2 T C 1: 173,102,422 (GRCm39) E89G probably benign Het
Myom1 T A 17: 71,407,393 (GRCm39) probably null Het
Naaladl2 A G 3: 24,225,806 (GRCm39) V541A probably benign Het
Nbeal2 T C 9: 110,465,973 (GRCm39) T851A possibly damaging Het
Ncoa4 A G 14: 31,892,750 (GRCm39) Y11C probably benign Het
Ntn5 T A 7: 45,343,780 (GRCm39) probably null Het
Or10d4c A G 9: 39,557,957 (GRCm39) probably benign Het
Or1j18 C T 2: 36,624,444 (GRCm39) T37I probably benign Het
Otop2 A G 11: 115,220,318 (GRCm39) Y386C probably damaging Het
Ppp2r1a T A 17: 21,174,979 (GRCm39) probably null Het
Prkd2 C A 7: 16,599,830 (GRCm39) N764K possibly damaging Het
Ralgapa1 A G 12: 55,809,512 (GRCm39) L421S probably damaging Het
Ric3 G A 7: 108,647,269 (GRCm39) R184* probably null Het
Sfswap A G 5: 129,618,505 (GRCm39) K480E probably damaging Het
Siah2 A G 3: 58,598,974 (GRCm39) V88A probably benign Het
Slc22a16 T C 10: 40,461,298 (GRCm39) F367L probably damaging Het
Slc23a2 T C 2: 131,920,356 (GRCm39) D183G probably benign Het
Svep1 T C 4: 58,123,180 (GRCm39) N712S possibly damaging Het
Tex21 A G 12: 76,286,283 (GRCm39) V72A probably benign Het
Tfap4 A G 16: 4,367,311 (GRCm39) Y184H probably damaging Het
Timeless T C 10: 128,076,504 (GRCm39) Y138H probably damaging Het
Tln2 A T 9: 67,293,946 (GRCm39) N227K possibly damaging Het
Trip10 C T 17: 57,563,899 (GRCm39) P342S probably benign Het
Ttc6 A T 12: 57,735,426 (GRCm39) E1156V probably damaging Het
Ttn T C 2: 76,728,472 (GRCm39) probably benign Het
Vmn2r109 G A 17: 20,774,785 (GRCm39) S190L possibly damaging Het
Wdr54 A G 6: 83,132,109 (GRCm39) S99P probably damaging Het
Zfp445 A G 9: 122,691,123 (GRCm39) V24A 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
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'- TTATGACCGAACCCACTGCC -3'
(R):5'- AGCAGTTTGCCTCCAGCTAC -3'

Sequencing Primer
(F):5'- ACGGTTCCGAGGTGCTAC -3'
(R):5'- TCCAAAACCAGCATCTTGGG -3'
Posted On 2018-08-01