Incidental Mutation 'R1667:Ythdf3'
ID 187265
Institutional Source Beutler Lab
Gene Symbol Ythdf3
Ensembl Gene ENSMUSG00000047213
Gene Name YTH N6-methyladenosine RNA binding protein 3
Synonyms 9130022A11Rik
MMRRC Submission 039703-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.307) question?
Stock # R1667 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 16237376-16271201 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16259056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 412 (I412T)
Ref Sequence ENSEMBL: ENSMUSP00000103983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108345] [ENSMUST00000108346] [ENSMUST00000191774]
AlphaFold Q8BYK6
Predicted Effect probably benign
Transcript: ENSMUST00000108345
AA Change: I401T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103982
Gene: ENSMUSG00000047213
AA Change: I401T

DomainStartEndE-ValueType
low complexity region 48 64 N/A INTRINSIC
low complexity region 134 161 N/A INTRINSIC
low complexity region 244 255 N/A INTRINSIC
low complexity region 289 351 N/A INTRINSIC
low complexity region 379 394 N/A INTRINSIC
Pfam:YTH 415 553 1.5e-50 PFAM
low complexity region 567 582 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108346
AA Change: I412T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103983
Gene: ENSMUSG00000047213
AA Change: I412T

DomainStartEndE-ValueType
low complexity region 59 75 N/A INTRINSIC
low complexity region 145 172 N/A INTRINSIC
low complexity region 255 266 N/A INTRINSIC
low complexity region 300 362 N/A INTRINSIC
low complexity region 390 405 N/A INTRINSIC
Pfam:YTH 427 562 1.1e-44 PFAM
low complexity region 578 593 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191774
AA Change: I405T

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000141610
Gene: ENSMUSG00000047213
AA Change: I405T

DomainStartEndE-ValueType
low complexity region 52 68 N/A INTRINSIC
low complexity region 138 165 N/A INTRINSIC
low complexity region 248 259 N/A INTRINSIC
low complexity region 293 355 N/A INTRINSIC
low complexity region 383 398 N/A INTRINSIC
Pfam:YTH 419 557 1.6e-50 PFAM
low complexity region 571 586 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193598
Meta Mutation Damage Score 0.0810 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 99% (76/77)
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) domain protein family. The YTH domain is common in eukaryotes, is often found in the middle of the protein sequence, and may function in binding to RNA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 G A 7: 139,425,564 (GRCm39) A26T possibly damaging Het
Adgrg3 T A 8: 95,760,001 (GRCm39) Y73* probably null Het
Alk A T 17: 72,218,562 (GRCm39) V761E probably damaging Het
Ankrd13a T C 5: 114,924,794 (GRCm39) V93A possibly damaging Het
Anks1b T C 10: 90,347,046 (GRCm39) probably null Het
Arb2a T A 13: 77,907,635 (GRCm39) M1K probably null Het
Ascl1 T C 10: 87,328,655 (GRCm39) N99S probably benign Het
Atm A T 9: 53,412,232 (GRCm39) L972Q probably damaging Het
Atp2c1 A T 9: 105,309,996 (GRCm39) L566Q probably null Het
Bank1 T A 3: 135,799,057 (GRCm39) Y629F probably damaging Het
Bod1l G T 5: 41,974,118 (GRCm39) L2399I probably benign Het
Bub1b G A 2: 118,471,670 (GRCm39) G1010D probably benign Het
Ces1b G A 8: 93,783,532 (GRCm39) H563Y possibly damaging Het
Cfap70 T C 14: 20,454,225 (GRCm39) E853G probably benign Het
Cfh T C 1: 140,033,261 (GRCm39) E779G probably benign Het
Cox7c A G 13: 86,194,003 (GRCm39) S7P probably benign Het
Cyp2c67 A G 19: 39,632,034 (GRCm39) probably null Het
Dhx30 G T 9: 109,914,513 (GRCm39) L995I possibly damaging Het
Dhx30 G C 9: 109,914,514 (GRCm39) N957K possibly damaging Het
Dsc3 T C 18: 20,124,617 (GRCm39) T36A possibly damaging Het
Dstyk A G 1: 132,384,657 (GRCm39) D717G probably damaging Het
Dusp10 A G 1: 183,769,055 (GRCm39) D7G probably damaging Het
E230001N04Rik T G 17: 28,742,935 (GRCm39) noncoding transcript Het
Ece2 T C 16: 20,456,588 (GRCm39) S330P possibly damaging Het
Frmd5 ATAGTGGAATTGTTCAAACTC ATAGTGGAATTGTTCAAACTCTAGTGGAATTGTTCAAACTC 2: 121,379,211 (GRCm39) probably null Het
Gata3 T C 2: 9,882,360 (GRCm39) H14R possibly damaging Het
Ggta1 T A 2: 35,304,295 (GRCm39) I75F possibly damaging Het
Hcn1 A T 13: 117,739,609 (GRCm39) I124F unknown Het
Herpud1 A C 8: 95,115,994 (GRCm39) D53A probably damaging Het
Inhba T A 13: 16,201,209 (GRCm39) L257Q possibly damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Jmy T A 13: 93,634,878 (GRCm39) S313C probably damaging Het
Lpo G A 11: 87,698,067 (GRCm39) probably benign Het
Lsg1 T C 16: 30,390,170 (GRCm39) E315G probably damaging Het
Lsm14a T A 7: 34,065,079 (GRCm39) T167S possibly damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Map3k2 T C 18: 32,336,845 (GRCm39) probably benign Het
Mapk12 A T 15: 89,024,344 (GRCm39) M81K probably damaging Het
Matn2 T A 15: 34,378,878 (GRCm39) C305S probably damaging Het
Mgam T C 6: 40,653,978 (GRCm39) Y844H possibly damaging Het
Mgat5b A G 11: 116,838,203 (GRCm39) R281G probably benign Het
Mon1b T G 8: 114,368,589 (GRCm39) C497G probably damaging Het
Mybbp1a A T 11: 72,336,043 (GRCm39) H452L probably benign Het
Mybl2 A G 2: 162,917,616 (GRCm39) T41A probably damaging Het
Ncoa5 A G 2: 164,843,623 (GRCm39) V540A probably damaging Het
Nup93 T A 8: 95,019,315 (GRCm39) V47E possibly damaging Het
Or10a4 A T 7: 106,696,977 (GRCm39) M102L probably benign Het
Or5j3 A G 2: 86,129,080 (GRCm39) M307V probably null Het
Orc6 T A 8: 86,031,914 (GRCm39) C100S possibly damaging Het
Otogl G T 10: 107,649,826 (GRCm39) Y1176* probably null Het
Patj A T 4: 98,301,264 (GRCm39) D183V probably damaging Het
Pik3r3 A G 4: 116,079,514 (GRCm39) T4A probably damaging Het
Pla2g4d G A 2: 120,100,631 (GRCm39) probably benign Het
Pla2r1 A G 2: 60,250,601 (GRCm39) I1407T probably benign Het
Pramel13 A T 4: 144,119,606 (GRCm39) C320* probably null Het
Prex2 A T 1: 11,256,981 (GRCm39) H1231L probably benign Het
Prkca A G 11: 107,874,772 (GRCm39) V390A probably damaging Het
Psmd13 T A 7: 140,470,522 (GRCm39) W255R probably damaging Het
Rec8 T A 14: 55,856,253 (GRCm39) N37K probably damaging Het
Rnf207 C T 4: 152,397,672 (GRCm39) E361K probably benign Het
Serpina3f T A 12: 104,183,699 (GRCm39) L187Q probably damaging Het
Skint11 A T 4: 114,051,978 (GRCm39) T109S probably damaging Het
Slc7a8 A G 14: 54,962,306 (GRCm39) S443P probably damaging Het
Slc8b1 T A 5: 120,659,147 (GRCm39) F197Y probably benign Het
Sox2 T C 3: 34,704,568 (GRCm39) Y2H probably damaging Het
Speg T A 1: 75,387,193 (GRCm39) probably benign Het
Tlr3 T C 8: 45,853,874 (GRCm39) N149D probably benign Het
Trim60 A C 8: 65,454,116 (GRCm39) D44E probably benign Het
Ugt1a7c A G 1: 88,023,657 (GRCm39) Y272C probably damaging Het
Vmn1r4 T A 6: 56,933,738 (GRCm39) Y81N probably damaging Het
Vmn2r73 A T 7: 85,506,889 (GRCm39) C808S probably benign Het
Zfp672 T C 11: 58,206,921 (GRCm39) T467A possibly damaging Het
Zfp985 A T 4: 147,668,407 (GRCm39) Q425L possibly damaging Het
Other mutations in Ythdf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02585:Ythdf3 APN 3 16,243,642 (GRCm39) missense probably benign 0.01
IGL03068:Ythdf3 APN 3 16,258,882 (GRCm39) missense possibly damaging 0.92
Disinclined UTSW 3 16,257,356 (GRCm39) nonsense probably null
R0501:Ythdf3 UTSW 3 16,259,236 (GRCm39) missense probably damaging 0.98
R0644:Ythdf3 UTSW 3 16,259,056 (GRCm39) missense possibly damaging 0.46
R1940:Ythdf3 UTSW 3 16,259,256 (GRCm39) missense possibly damaging 0.71
R2121:Ythdf3 UTSW 3 16,259,356 (GRCm39) missense possibly damaging 0.71
R2191:Ythdf3 UTSW 3 16,257,375 (GRCm39) intron probably benign
R2341:Ythdf3 UTSW 3 16,257,379 (GRCm39) intron probably benign
R2512:Ythdf3 UTSW 3 16,259,059 (GRCm39) missense possibly damaging 0.66
R2850:Ythdf3 UTSW 3 16,257,982 (GRCm39) splice site probably benign
R3037:Ythdf3 UTSW 3 16,259,355 (GRCm39) missense probably benign 0.32
R4934:Ythdf3 UTSW 3 16,258,220 (GRCm39) missense probably damaging 0.97
R5007:Ythdf3 UTSW 3 16,259,362 (GRCm39) missense possibly damaging 0.51
R5164:Ythdf3 UTSW 3 16,237,677 (GRCm39) missense possibly damaging 0.67
R5172:Ythdf3 UTSW 3 16,258,198 (GRCm39) missense probably damaging 1.00
R5480:Ythdf3 UTSW 3 16,237,664 (GRCm39) missense possibly damaging 0.83
R5512:Ythdf3 UTSW 3 16,238,086 (GRCm39) missense probably damaging 0.98
R6059:Ythdf3 UTSW 3 16,257,356 (GRCm39) nonsense probably null
R6104:Ythdf3 UTSW 3 16,259,325 (GRCm39) missense possibly damaging 0.51
R6273:Ythdf3 UTSW 3 16,259,020 (GRCm39) missense possibly damaging 0.92
R6721:Ythdf3 UTSW 3 16,258,025 (GRCm39) missense possibly damaging 0.72
R7187:Ythdf3 UTSW 3 16,258,451 (GRCm39) missense probably benign 0.05
R7285:Ythdf3 UTSW 3 16,258,049 (GRCm39) splice site probably null
R7307:Ythdf3 UTSW 3 16,237,664 (GRCm39) missense possibly damaging 0.83
R7816:Ythdf3 UTSW 3 16,243,681 (GRCm39) missense probably damaging 0.96
R8499:Ythdf3 UTSW 3 16,259,179 (GRCm39) missense possibly damaging 0.85
R8754:Ythdf3 UTSW 3 16,258,138 (GRCm39) missense probably damaging 0.99
R9401:Ythdf3 UTSW 3 16,258,659 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCTATTGCCAGAAAGCCTGCAAAAC -3'
(R):5'- AGGGAACGATAAGCTGCATCCAAAC -3'

Sequencing Primer
(F):5'- TTGGTGCAAAGCCAACTGC -3'
(R):5'- GCTGCATCCAAACGCTTATTAC -3'
Posted On 2014-05-09