Incidental Mutation 'IGL02221:1700013D24Rik'
ID285137
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700013D24Rik
Ensembl Gene ENSMUSG00000079346
Gene NameRIKEN cDNA 1700013D24 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL02221
Quality Score
Status
Chromosome6
Chromosomal Location124347593-124357086 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 124356948 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 24 (I24M)
Ref Sequence ENSEMBL: ENSMUSP00000108156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112537]
Predicted Effect probably benign
Transcript: ENSMUST00000112537
AA Change: I24M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000108156
Gene: ENSMUSG00000079346
AA Change: I24M

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
low complexity region 83 98 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203817
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano5 G A 7: 51,570,323 D390N probably damaging Het
Atp2c2 A G 8: 119,744,334 Y407C probably damaging Het
B430306N03Rik T C 17: 48,324,195 probably benign Het
BC052040 T C 2: 115,639,066 probably null Het
Cd44 A T 2: 102,846,513 M269K probably benign Het
Cpped1 G T 16: 11,828,528 P144Q probably damaging Het
Epas1 C T 17: 86,827,847 T636M possibly damaging Het
Hsd17b3 G T 13: 64,089,051 H26Q probably benign Het
Ighv8-9 A G 12: 115,468,327 probably benign Het
Itih1 A T 14: 30,929,587 C883S probably damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Lcn3 A T 2: 25,766,160 M76L probably benign Het
Lin9 A T 1: 180,650,834 M53L probably benign Het
Mast1 A G 8: 84,918,755 V687A possibly damaging Het
Mmd2 C T 5: 142,569,457 probably benign Het
Mroh2b T C 15: 4,923,641 L619S probably damaging Het
Ngef T C 1: 87,540,696 T114A probably benign Het
Nlrp12 T C 7: 3,240,967 D305G possibly damaging Het
Nlrp1a A T 11: 71,123,118 F435L possibly damaging Het
Nup188 A G 2: 30,330,641 I909V possibly damaging Het
Osbpl3 A C 6: 50,327,367 probably benign Het
P2ry2 G T 7: 100,998,114 P328H possibly damaging Het
Prex2 A T 1: 11,061,345 N46I probably benign Het
Prss42 T C 9: 110,803,175 F325L possibly damaging Het
Reep5 A G 18: 34,349,797 F120L probably damaging Het
Scg3 G T 9: 75,683,657 F23L probably damaging Het
Scx A G 15: 76,459,095 D200G probably benign Het
Setd5 C T 6: 113,121,170 probably benign Het
Tcf4 T A 18: 69,347,367 S23R probably damaging Het
Ttc4 A G 4: 106,676,596 probably null Het
Tyro3 T A 2: 119,812,590 C627S probably benign Het
Yipf2 T C 9: 21,591,468 N106S possibly damaging Het
Zfp619 T C 7: 39,536,910 L788P probably benign Het
Zfp831 G A 2: 174,643,726 V65I probably benign Het
Zgpat T C 2: 181,378,858 S275P probably benign Het
Other mutations in 1700013D24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03369:1700013D24Rik APN 6 124356421 missense possibly damaging 0.66
R0760:1700013D24Rik UTSW 6 124347702 missense possibly damaging 0.46
R1984:1700013D24Rik UTSW 6 124347819 missense probably damaging 0.99
R2146:1700013D24Rik UTSW 6 124347844 intron probably null
R4035:1700013D24Rik UTSW 6 124356920 missense probably benign 0.27
R4119:1700013D24Rik UTSW 6 124356904 missense probably damaging 0.97
R6502:1700013D24Rik UTSW 6 124356949 missense probably benign 0.12
Posted On2015-04-16