Incidental Mutation 'IGL01787:Ythdf1'
ID155094
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ythdf1
Ensembl Gene ENSMUSG00000038848
Gene NameYTH domain family 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01787
Quality Score
Status
Chromosome2
Chromosomal Location180904377-180920949 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 180911693 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 216 (L216P)
Ref Sequence ENSEMBL: ENSMUSP00000037808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037299] [ENSMUST00000108876] [ENSMUST00000124666]
Predicted Effect probably damaging
Transcript: ENSMUST00000037299
AA Change: L216P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037808
Gene: ENSMUSG00000038848
AA Change: L216P

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: L243P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104504
Gene: ENSMUSG00000038848
AA Change: L243P

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A G 1: 179,753,322 S1772P probably benign Het
Epsti1 T C 14: 77,972,612 probably null Het
Gm4758 T A 16: 36,311,229 Y34N probably damaging Het
Mtrr A T 13: 68,571,147 L325Q probably damaging Het
Neb T C 2: 52,296,355 K902E possibly damaging Het
Nfkbie T C 17: 45,556,263 L108P probably damaging Het
Olfr1263 A T 2: 90,015,311 Y127F probably damaging Het
Olfr136 T A 17: 38,335,579 C141S probably damaging Het
Pcdh15 A G 10: 74,450,283 D712G probably benign Het
Polr3k T C 2: 181,864,458 probably benign Het
Shkbp1 A C 7: 27,342,450 F660V possibly damaging Het
Smchd1 T C 17: 71,391,418 D1121G probably damaging Het
Srgap3 A T 6: 112,723,022 D998E probably benign Het
Stab1 T C 14: 31,139,808 D14G probably damaging Het
Tap1 T C 17: 34,196,604 S641P probably benign Het
Tgm3 C T 2: 130,047,740 S618F possibly damaging Het
Tgm6 T C 2: 130,151,434 probably benign Het
Tmco5 A T 2: 116,887,300 E194D probably damaging Het
Treml4 T A 17: 48,264,704 V45E probably damaging Het
Uggt2 A T 14: 119,081,734 M292K probably damaging Het
Usp5 A T 6: 124,824,226 D179E possibly damaging Het
Zfp948 C T 17: 21,587,071 A175V probably benign Het
Other mutations in Ythdf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03066:Ythdf1 APN 2 180911546 missense probably damaging 1.00
Agitated UTSW 2 180919133 critical splice donor site probably null
R1258:Ythdf1 UTSW 2 180911310 missense probably benign 0.05
R1541:Ythdf1 UTSW 2 180919143 missense probably damaging 1.00
R1738:Ythdf1 UTSW 2 180911492 missense probably benign 0.00
R1856:Ythdf1 UTSW 2 180910970 missense probably damaging 1.00
R2169:Ythdf1 UTSW 2 180912114 missense probably damaging 1.00
R4606:Ythdf1 UTSW 2 180912182 missense probably damaging 0.97
R5296:Ythdf1 UTSW 2 180912188 missense probably damaging 0.98
R6250:Ythdf1 UTSW 2 180911100 missense probably damaging 1.00
R6254:Ythdf1 UTSW 2 180911150 missense probably damaging 1.00
R6702:Ythdf1 UTSW 2 180919133 critical splice donor site probably null
R7102:Ythdf1 UTSW 2 180911522 missense probably damaging 1.00
R7409:Ythdf1 UTSW 2 180911993 missense probably damaging 1.00
Posted On2014-02-04