Incidental Mutation 'R1258:Ythdf1'
ID 151514
Institutional Source Beutler Lab
Gene Symbol Ythdf1
Ensembl Gene ENSMUSG00000038848
Gene Name YTH N6-methyladenosine RNA binding protein 1
Synonyms 2210410K23Rik
MMRRC Submission 039325-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1258 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 180546170-180562729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 180553103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 371 (A371S)
Ref Sequence ENSEMBL: ENSMUSP00000104504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037299] [ENSMUST00000108876] [ENSMUST00000124666]
AlphaFold P59326
Predicted Effect probably benign
Transcript: ENSMUST00000037299
AA Change: A344S

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000037808
Gene: ENSMUSG00000038848
AA Change: A344S

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 benign
Transcript: ENSMUST00000108876
AA Change: A371S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000104504
Gene: ENSMUSG00000038848
AA Change: A371S

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 T C 7: 133,539,176 (GRCm39) E112G probably damaging Het
Ccar2 T C 14: 70,390,122 (GRCm39) N17D probably benign Het
Dnajc9 G A 14: 20,438,765 (GRCm39) probably null Het
Igsf9 G A 1: 172,319,722 (GRCm39) R339H probably benign Het
Inpp5a G T 7: 139,105,660 (GRCm39) G212C probably damaging Het
Itsn2 A G 12: 4,723,464 (GRCm39) E1133G probably damaging Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Pcdhb17 A T 18: 37,618,587 (GRCm39) I126L probably damaging Het
Qtrt2 A G 16: 43,689,446 (GRCm39) V184A possibly damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Sall3 G A 18: 81,017,280 (GRCm39) A216V probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
St8sia6 T C 2: 13,661,695 (GRCm39) M379V probably benign Het
Ubr4 T A 4: 139,154,225 (GRCm39) L2144H probably damaging Het
Ypel1 A T 16: 16,923,917 (GRCm39) L44H probably damaging Het
Zdhhc16 G A 19: 41,926,483 (GRCm39) V89M possibly damaging Het
Zfp37 A T 4: 62,110,054 (GRCm39) Y375N probably damaging Het
Zmat3 A T 3: 32,397,820 (GRCm39) N147K probably damaging 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
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
R6250:Ythdf1 UTSW 2 180,552,893 (GRCm39) missense probably damaging 1.00
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'- TTGATGATGAACACCCGCCCAC -3'
(R):5'- CCTGAAGATTGGGGATGTTACCACC -3'

Sequencing Primer
(F):5'- TAGGGTTATAGCTGTGGGCA -3'
(R):5'- AACTTCATGGGCAGCCATTG -3'
Posted On 2014-01-29