Incidental Mutation 'IGL02372:1700001P01Rik'
ID 290965
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700001P01Rik
Ensembl Gene ENSMUSG00000018543
Gene Name RIKEN cDNA 1700001P01 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock # IGL02372
Quality Score
Status
Chromosome 11
Chromosomal Location 97771481-97775918 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97775699 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 54 (Y54N)
Ref Sequence ENSEMBL: ENSMUSP00000103202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103146] [ENSMUST00000107576]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000103146
SMART Domains Protein: ENSMUSP00000099435
Gene: ENSMUSG00000071415

DomainStartEndE-ValueType
low complexity region 4 11 N/A INTRINSIC
Ribosomal_L14 19 140 2.71e-59 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107576
AA Change: Y54N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103202
Gene: ENSMUSG00000018543
AA Change: Y54N

DomainStartEndE-ValueType
Pfam:DUF4542 12 146 5.8e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151118
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183504
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alyref A G 11: 120,594,875 probably benign Het
Ankrd27 A G 7: 35,633,036 probably null Het
Arc A G 15: 74,672,105 S90P probably damaging Het
Atp6v1e1 T A 6: 120,801,123 K150N probably benign Het
Atrn T C 2: 131,002,754 probably benign Het
Ccnb1 A G 13: 100,781,316 Y259H probably damaging Het
Celsr1 A G 15: 85,929,907 V1938A probably benign Het
Ckmt2 A G 13: 91,865,224 V37A probably benign Het
Dpys G T 15: 39,793,271 P467T probably benign Het
Ehbp1l1 T C 19: 5,710,834 T1535A possibly damaging Het
Eif4enif1 T C 11: 3,229,986 L302P probably benign Het
Faf1 T G 4: 109,935,582 F584V probably benign Het
Glb1l2 G A 9: 26,796,476 R72C probably damaging Het
Gm9892 T C 8: 52,196,836 noncoding transcript Het
Hecw1 G T 13: 14,264,121 D892E probably damaging Het
Hr A G 14: 70,558,350 E474G possibly damaging Het
Ltbp1 T G 17: 75,252,406 F297V probably damaging Het
Myc A G 15: 61,987,858 N127D probably damaging Het
Nbn T A 4: 15,986,613 N671K probably benign Het
Nup210l C A 3: 90,201,971 T1607N possibly damaging Het
Olfr281 A T 15: 98,456,828 T173S probably damaging Het
Osbpl1a T A 18: 12,841,313 K22* probably null Het
Phf20l1 T C 15: 66,641,801 L942P probably damaging Het
Plekhg5 C T 4: 152,102,080 R40W probably damaging Het
Pomt2 C T 12: 87,122,835 probably benign Het
Rab3gap1 A G 1: 127,919,561 probably benign Het
Sbk1 T C 7: 126,291,058 L81P probably damaging Het
Scrib G A 15: 76,048,255 P1524S probably damaging Het
Smpdl3a T A 10: 57,807,515 N240K probably benign Het
Smyd4 A T 11: 75,390,285 K195* probably null Het
Tulp3 A T 6: 128,327,598 M231K possibly damaging Het
Zfp87 A G 13: 67,520,620 probably benign Het
Other mutations in 1700001P01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:1700001P01Rik APN 11 97771581 missense probably damaging 0.97
R1720:1700001P01Rik UTSW 11 97771609 missense probably damaging 1.00
R3684:1700001P01Rik UTSW 11 97775699 missense probably damaging 1.00
R4592:1700001P01Rik UTSW 11 97771615 missense probably damaging 1.00
R5250:1700001P01Rik UTSW 11 97772727 missense possibly damaging 0.92
R8975:1700001P01Rik UTSW 11 97772746 missense probably damaging 1.00
R8987:1700001P01Rik UTSW 11 97775684 missense probably damaging 0.98
X0020:1700001P01Rik UTSW 11 97775663 nonsense probably null
X0063:1700001P01Rik UTSW 11 97775805 missense probably damaging 0.98
Posted On 2015-04-16