Incidental Mutation 'R6250:Ythdf1'
ID 505897
Institutional Source Beutler Lab
Gene Symbol Ythdf1
Ensembl Gene ENSMUSG00000038848
Gene Name YTH N6-methyladenosine RNA binding protein 1
Synonyms 2210410K23Rik
MMRRC Submission 044367-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6250 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 180546170-180562729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 180552893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 414 (T414A)
Ref Sequence ENSEMBL: ENSMUSP00000037808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037299] [ENSMUST00000108876] [ENSMUST00000124666]
AlphaFold P59326
Predicted Effect probably damaging
Transcript: ENSMUST00000037299
AA Change: T414A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037808
Gene: ENSMUSG00000038848
AA Change: T414A

DomainStartEndE-ValueType
low complexity region 47 63 N/A INTRINSIC
low complexity region 133 153 N/A INTRINSIC
low complexity region 279 326 N/A INTRINSIC
Pfam:YTH 388 526 4.2e-51 PFAM
low complexity region 540 557 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108876
AA Change: T441A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104504
Gene: ENSMUSG00000038848
AA Change: T441A

DomainStartEndE-ValueType
low complexity region 74 90 N/A INTRINSIC
low complexity region 160 180 N/A INTRINSIC
low complexity region 306 353 N/A INTRINSIC
Pfam:YTH 416 551 1.9e-46 PFAM
low complexity region 567 584 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124666
SMART Domains Protein: ENSMUSP00000116665
Gene: ENSMUSG00000038848

DomainStartEndE-ValueType
low complexity region 40 56 N/A INTRINSIC
low complexity region 126 146 N/A INTRINSIC
Meta Mutation Damage Score 0.8428 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 98% (60/61)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 T C 2: 150,681,667 (GRCm39) Y241C probably damaging Het
Ak9 T C 10: 41,265,030 (GRCm39) V929A possibly damaging Het
Ap3s1 T C 18: 46,887,514 (GRCm39) F49S probably damaging Het
Atp9b T C 18: 80,799,736 (GRCm39) H801R probably benign Het
B430218F22Rik A G 13: 118,523,944 (GRCm39) probably benign Het
Ccnd3 T A 17: 47,908,487 (GRCm39) L186* probably null Het
Cnbd1 T A 4: 19,098,255 (GRCm39) Q55L probably benign Het
Commd10 A G 18: 47,096,755 (GRCm39) E54G probably damaging Het
Cplx3 A G 9: 57,522,907 (GRCm39) V151A probably benign Het
D6Ertd527e G A 6: 87,088,194 (GRCm39) G119D unknown Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Disp2 A T 2: 118,621,247 (GRCm39) I660F probably damaging Het
Eef1a2 A G 2: 180,792,853 (GRCm39) F211L possibly damaging Het
Epb41 A T 4: 131,717,184 (GRCm39) F323L probably damaging Het
Eps8l3 A T 3: 107,797,781 (GRCm39) I403F probably benign Het
Ercc5 T A 1: 44,203,209 (GRCm39) V282D probably damaging Het
Faim A T 9: 98,874,176 (GRCm39) M1L probably benign Het
Fbxo24 A G 5: 137,619,543 (GRCm39) F111L probably damaging Het
Fcgbpl1 G A 7: 27,850,139 (GRCm39) G1195D probably damaging Het
Glrx A T 13: 75,988,229 (GRCm39) I48F probably damaging Het
Gucy2g A T 19: 55,205,856 (GRCm39) L668Q probably damaging Het
Hectd4 A G 5: 121,477,561 (GRCm39) D2828G possibly damaging Het
Hivep2 T C 10: 14,007,503 (GRCm39) V1367A probably benign Het
Hrob A G 11: 102,145,888 (GRCm39) T55A probably benign Het
Ipo13 A G 4: 117,769,351 (GRCm39) V147A possibly damaging Het
Jchain T C 5: 88,674,034 (GRCm39) T37A probably benign Het
Kif1b A G 4: 149,298,100 (GRCm39) V1034A probably benign Het
Krt25 T A 11: 99,211,989 (GRCm39) N216I probably damaging Het
Mfsd4b1 T C 10: 39,879,106 (GRCm39) S264G possibly damaging Het
Mxra8 G T 4: 155,925,546 (GRCm39) R82L possibly damaging Het
Nlrp1b A T 11: 71,072,625 (GRCm39) I406N probably benign Het
Or13c7 T C 4: 43,854,363 (GRCm39) L18P possibly damaging Het
Or2y11 A T 11: 49,442,711 (GRCm39) I46F probably damaging Het
Or5h23 G A 16: 58,906,195 (GRCm39) S217F probably damaging Het
Pak5 T C 2: 136,016,189 (GRCm39) probably benign Het
Pcsk4 T C 10: 80,161,426 (GRCm39) R222G probably benign Het
Pik3cb A C 9: 98,976,651 (GRCm39) F149V probably benign Het
Plscr4 G A 9: 92,366,881 (GRCm39) R165Q possibly damaging Het
Ppp2r2a A T 14: 67,276,403 (GRCm39) V34E probably damaging Het
Prpf8 T G 11: 75,384,334 (GRCm39) S659R possibly damaging Het
Ptprd A G 4: 76,047,232 (GRCm39) S342P probably damaging Het
Pum2 T C 12: 8,794,755 (GRCm39) probably null Het
Ranbp3 T G 17: 56,984,208 (GRCm39) probably null Het
Rassf7 A G 7: 140,797,156 (GRCm39) E123G probably damaging Het
Rcor1 G T 12: 111,078,311 (GRCm39) A469S probably benign Het
Rcor3 G T 1: 191,785,196 (GRCm39) P524Q probably damaging Het
Rnf44 A T 13: 54,829,920 (GRCm39) probably null Het
Rtf1 T C 2: 119,505,658 (GRCm39) V37A unknown Het
Sdc4 A T 2: 164,273,138 (GRCm39) D57E probably damaging Het
Setbp1 T C 18: 78,901,217 (GRCm39) T817A probably benign Het
Setd1a A G 7: 127,390,471 (GRCm39) E506G unknown Het
Slc30a8 G A 15: 52,198,545 (GRCm39) R330Q probably benign Het
Snx22 C A 9: 65,976,923 (GRCm39) E14* probably null Het
Spata31d1a A G 13: 59,849,615 (GRCm39) S838P possibly damaging Het
Sprr4 G T 3: 92,407,770 (GRCm39) Q11K unknown Het
Trpm3 A G 19: 22,887,418 (GRCm39) N839S probably benign Het
Vps9d1 T C 8: 123,974,947 (GRCm39) probably null Het
Vwa3b T C 1: 37,090,966 (GRCm39) probably null Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Other mutations in Ythdf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01787:Ythdf1 APN 2 180,553,486 (GRCm39) missense probably damaging 0.99
IGL03066:Ythdf1 APN 2 180,553,339 (GRCm39) missense probably damaging 1.00
Agitated UTSW 2 180,560,926 (GRCm39) critical splice donor site probably null
R1258:Ythdf1 UTSW 2 180,553,103 (GRCm39) missense probably benign 0.05
R1541:Ythdf1 UTSW 2 180,560,936 (GRCm39) missense probably damaging 1.00
R1738:Ythdf1 UTSW 2 180,553,285 (GRCm39) missense probably benign 0.00
R1856:Ythdf1 UTSW 2 180,552,763 (GRCm39) missense probably damaging 1.00
R2169:Ythdf1 UTSW 2 180,553,907 (GRCm39) missense probably damaging 1.00
R4606:Ythdf1 UTSW 2 180,553,975 (GRCm39) missense probably damaging 0.97
R5296:Ythdf1 UTSW 2 180,553,981 (GRCm39) missense probably damaging 0.98
R6254:Ythdf1 UTSW 2 180,552,943 (GRCm39) missense probably damaging 1.00
R6702:Ythdf1 UTSW 2 180,560,926 (GRCm39) critical splice donor site probably null
R7102:Ythdf1 UTSW 2 180,553,315 (GRCm39) missense probably damaging 1.00
R7409:Ythdf1 UTSW 2 180,553,786 (GRCm39) missense probably damaging 1.00
R9069:Ythdf1 UTSW 2 180,552,857 (GRCm39) missense probably damaging 1.00
R9356:Ythdf1 UTSW 2 180,553,998 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- CACTTGTCCTGAGACCAGAC -3'
(R):5'- TGCAGCATTTGGGCAGAGTG -3'

Sequencing Primer
(F):5'- TGTCCTGAGACCAGACCCCAG -3'
(R):5'- CAGTAACTCTGTTGGAAATGCCC -3'
Posted On 2018-02-28