Incidental Mutation 'IGL03124:1700018B08Rik'
ID 410121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700018B08Rik
Ensembl Gene ENSMUSG00000031809
Gene Name RIKEN cDNA 1700018B08 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL03124
Quality Score
Status
Chromosome 8
Chromosomal Location 122257519-122271059 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 122268449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034265] [ENSMUST00000127664] [ENSMUST00000182460] [ENSMUST00000182739] [ENSMUST00000183280]
AlphaFold Q9DA83
Predicted Effect probably benign
Transcript: ENSMUST00000034265
SMART Domains Protein: ENSMUSP00000034265
Gene: ENSMUSG00000031809

DomainStartEndE-ValueType
Pfam:DUF4568 3 213 1.4e-118 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181679
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182145
Predicted Effect probably benign
Transcript: ENSMUST00000182460
SMART Domains Protein: ENSMUSP00000138106
Gene: ENSMUSG00000031809

DomainStartEndE-ValueType
Pfam:DUF4568 23 188 7.2e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182739
Predicted Effect probably benign
Transcript: ENSMUST00000183280
SMART Domains Protein: ENSMUSP00000138141
Gene: ENSMUSG00000031809

DomainStartEndE-ValueType
Pfam:DUF4568 3 48 2.1e-6 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik A G 14: 54,832,596 (GRCm39) V193A probably benign Het
Acap3 T C 4: 155,989,490 (GRCm39) S645P probably benign Het
Alms1 A G 6: 85,655,401 (GRCm39) I3316V probably benign Het
Apc T G 18: 34,433,038 (GRCm39) H424Q probably damaging Het
Camsap2 A T 1: 136,202,537 (GRCm39) probably null Het
Car13 C T 3: 14,722,000 (GRCm39) P182L possibly damaging Het
Ccdc87 T G 19: 4,891,082 (GRCm39) S525A probably damaging Het
Ces1f T C 8: 94,002,012 (GRCm39) N39D probably benign Het
Cyp2j13 C A 4: 95,950,159 (GRCm39) A281S possibly damaging Het
Cyp4f15 G A 17: 32,904,786 (GRCm39) probably null Het
Fat4 C A 3: 39,035,701 (GRCm39) R3118S possibly damaging Het
Glg1 C T 8: 111,926,803 (GRCm39) V171M probably damaging Het
Hivep1 G T 13: 42,312,380 (GRCm39) G1540V possibly damaging Het
Ighm T C 12: 113,385,258 (GRCm39) D234G unknown Het
Igsf10 T C 3: 59,227,086 (GRCm39) T2196A probably benign Het
Kctd19 T A 8: 106,113,702 (GRCm39) Q657L possibly damaging Het
Klhl40 T A 9: 121,609,751 (GRCm39) I512N probably damaging Het
Lima1 A T 15: 99,694,615 (GRCm39) probably benign Het
Map2k4 A C 11: 65,581,617 (GRCm39) I365S probably damaging Het
Mast4 T A 13: 102,874,753 (GRCm39) K1346N probably damaging Het
Met T A 6: 17,492,077 (GRCm39) F280I probably benign Het
Ncapg A G 5: 45,828,551 (GRCm39) T101A probably benign Het
Nup214 T C 2: 31,886,452 (GRCm39) F605L probably benign Het
Odr4 A G 1: 150,262,176 (GRCm39) V88A probably benign Het
Or51k1 G T 7: 103,661,001 (GRCm39) Q303K probably benign Het
Or5ae2 T A 7: 84,505,931 (GRCm39) M118K probably damaging Het
Or7e177 T A 9: 20,212,459 (GRCm39) M322K probably benign Het
Pck2 C T 14: 55,782,790 (GRCm39) T373I probably damaging Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pecr A C 1: 72,316,499 (GRCm39) S69A probably benign Het
Pgap6 G A 17: 26,335,808 (GRCm39) R65Q probably damaging Het
Pitpnb A G 5: 111,478,696 (GRCm39) E6G possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Plbd2 A T 5: 120,631,142 (GRCm39) F212I possibly damaging Het
Rfk T A 19: 17,375,959 (GRCm39) H84Q possibly damaging Het
Scp2 T A 4: 107,921,103 (GRCm39) I36F probably damaging Het
Slc9a4 A G 1: 40,619,895 (GRCm39) T74A probably damaging Het
Spmip6 T C 4: 41,507,287 (GRCm39) N170D possibly damaging Het
St6galnac1 G A 11: 116,666,125 (GRCm39) A35V probably benign Het
Tasor2 A T 13: 3,624,704 (GRCm39) Y1749N probably benign Het
Trav17 T C 14: 54,044,106 (GRCm39) V4A probably benign Het
Vmn1r57 A T 7: 5,224,021 (GRCm39) H182L possibly damaging Het
Vwa8 A T 14: 79,296,255 (GRCm39) probably benign Het
Zgpat A G 2: 181,007,973 (GRCm39) Y170C probably benign Het
Other mutations in 1700018B08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02700:1700018B08Rik APN 8 122,262,161 (GRCm39) critical splice donor site probably null
R1475:1700018B08Rik UTSW 8 122,267,327 (GRCm39) splice site probably benign
R2883:1700018B08Rik UTSW 8 122,266,644 (GRCm39) missense probably damaging 1.00
R3967:1700018B08Rik UTSW 8 122,266,719 (GRCm39) missense possibly damaging 0.52
R6281:1700018B08Rik UTSW 8 122,258,620 (GRCm39) missense probably damaging 1.00
R6490:1700018B08Rik UTSW 8 122,267,293 (GRCm39) missense probably benign 0.06
R6920:1700018B08Rik UTSW 8 122,262,160 (GRCm39) critical splice donor site probably null
R6934:1700018B08Rik UTSW 8 122,266,712 (GRCm39) missense probably benign 0.05
R8995:1700018B08Rik UTSW 8 122,257,764 (GRCm39) makesense probably null
Z1177:1700018B08Rik UTSW 8 122,266,721 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02