Incidental Mutation 'IGL01925:Ythdf2'
ID 180245
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01925
Quality Score
Status
Chromosome 4
Chromosomal Location 131912227-131939567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131938085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 37 (Y37C)
Ref Sequence ENSEMBL: ENSMUSP00000120414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085181] [ENSMUST00000152796]
AlphaFold Q91YT7
Predicted Effect probably damaging
Transcript: ENSMUST00000085181
AA Change: Y37C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102570
Predicted Effect probably damaging
Transcript: ENSMUST00000152796
AA Change: Y37C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120414
Gene: ENSMUSG00000040025
AA Change: Y37C

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: Y12C
SMART Domains Protein: ENSMUSP00000129225
Gene: ENSMUSG00000040025
AA Change: Y12C

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aloxe3 A G 11: 69,019,459 (GRCm39) D124G probably damaging Het
Arap3 C T 18: 38,117,299 (GRCm39) V926I probably benign Het
Catspere2 T A 1: 177,842,687 (GRCm39) probably benign Het
Col6a3 C T 1: 90,729,958 (GRCm39) V1176M possibly damaging Het
D5Ertd579e A T 5: 36,771,628 (GRCm39) D922E possibly damaging Het
Dipk2a A C 9: 94,402,509 (GRCm39) D384E probably damaging Het
Epm2a T A 10: 11,324,502 (GRCm39) I197N possibly damaging Het
Faim T G 9: 98,872,972 (GRCm39) probably benign Het
Fkbp15 A G 4: 62,241,450 (GRCm39) I565T probably damaging Het
Fli1 G A 9: 32,377,127 (GRCm39) P47L probably damaging Het
Gli2 T C 1: 118,781,106 (GRCm39) K187R probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hspa5 G A 2: 34,664,730 (GRCm39) V395I probably benign Het
Ide T C 19: 37,255,296 (GRCm39) T836A unknown Het
Il9 T A 13: 56,629,684 (GRCm39) probably benign Het
Ints8 C T 4: 11,235,617 (GRCm39) probably benign Het
Lrrc37a T A 11: 103,389,245 (GRCm39) H2060L probably benign Het
Mok T C 12: 110,774,646 (GRCm39) N208S probably benign Het
Morn3 T C 5: 123,184,825 (GRCm39) K5R probably damaging Het
Nalcn C T 14: 123,529,260 (GRCm39) C1405Y possibly damaging Het
Ndufv3 T C 17: 31,746,460 (GRCm39) S117P possibly damaging Het
Ninl A T 2: 150,812,979 (GRCm39) C226S probably damaging Het
Onecut2 T C 18: 64,474,585 (GRCm39) W360R probably damaging Het
Or10al4 A G 17: 38,037,002 (GRCm39) E29G probably benign Het
Or13f5 A G 4: 52,825,910 (GRCm39) N171S probably benign Het
Or1af1 A G 2: 37,110,058 (GRCm39) T186A probably benign Het
Or2d3b T A 7: 106,514,235 (GRCm39) F277I probably damaging Het
Or2w2 T C 13: 21,758,341 (GRCm39) D95G possibly damaging Het
Or51e1 T C 7: 102,359,410 (GRCm39) S315P probably damaging Het
Rai14 A G 15: 10,595,948 (GRCm39) S118P possibly damaging Het
Serpinb7 T C 1: 107,379,399 (GRCm39) S269P probably benign Het
Sesn3 C T 9: 14,231,696 (GRCm39) T209I probably damaging Het
Slit1 T A 19: 41,596,817 (GRCm39) N1094I probably damaging Het
Tep1 C T 14: 51,061,955 (GRCm39) probably benign Het
Top1mt A G 15: 75,528,992 (GRCm39) F584S possibly damaging Het
Trim44 A T 2: 102,230,362 (GRCm39) L223Q probably benign Het
Trim69 T A 2: 121,998,397 (GRCm39) L123Q probably damaging Het
Ubr2 A T 17: 47,265,875 (GRCm39) L1153I possibly damaging Het
Unc13a G A 8: 72,087,187 (GRCm39) T1520I possibly damaging Het
Vmn2r105 A C 17: 20,428,973 (GRCm39) I701S possibly damaging Het
Wrn T C 8: 33,809,208 (GRCm39) T263A probably benign Het
Yeats2 T G 16: 19,998,430 (GRCm39) probably benign Het
Zfp169 T C 13: 48,644,239 (GRCm39) 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
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
R8916:Ythdf2 UTSW 4 131,931,830 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07