Incidental Mutation 'IGL03124:1700018B08Rik'
ID410121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700018B08Rik
Ensembl Gene ENSMUSG00000031809
Gene NameRIKEN cDNA 1700018B08 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL03124
Quality Score
Status
Chromosome8
Chromosomal Location121530780-121544320 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to A at 121541710 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034265] [ENSMUST00000127664] [ENSMUST00000182460] [ENSMUST00000182739] [ENSMUST00000183280]
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
1110017D15Rik T C 4: 41,507,287 N170D possibly damaging Het
4931414P19Rik A G 14: 54,595,139 V193A probably benign Het
Acap3 T C 4: 155,905,033 S645P probably benign Het
Alms1 A G 6: 85,678,419 I3316V probably benign Het
Apc T G 18: 34,299,985 H424Q probably damaging Het
BC003331 A G 1: 150,386,425 V88A probably benign Het
Camsap2 A T 1: 136,274,799 probably null Het
Car13 C T 3: 14,656,940 P182L possibly damaging Het
Ccdc87 T G 19: 4,841,054 S525A probably damaging Het
Ces1f T C 8: 93,275,384 N39D probably benign Het
Cyp2j13 C A 4: 96,061,922 A281S possibly damaging Het
Cyp4f15 G A 17: 32,685,812 probably null Het
Fam208b A T 13: 3,574,704 Y1749N probably benign Het
Fat4 C A 3: 38,981,552 R3118S possibly damaging Het
Glg1 C T 8: 111,200,171 V171M probably damaging Het
Hivep1 G T 13: 42,158,904 G1540V possibly damaging Het
Ighm T C 12: 113,421,638 D234G unknown Het
Igsf10 T C 3: 59,319,665 T2196A probably benign Het
Kctd19 T A 8: 105,387,070 Q657L possibly damaging Het
Klhl40 T A 9: 121,780,685 I512N probably damaging Het
Lima1 A T 15: 99,796,734 probably benign Het
Map2k4 A C 11: 65,690,791 I365S probably damaging Het
Mast4 T A 13: 102,738,245 K1346N probably damaging Het
Met T A 6: 17,492,078 F280I probably benign Het
Ncapg A G 5: 45,671,209 T101A probably benign Het
Nup214 T C 2: 31,996,440 F605L probably benign Het
Olfr291 T A 7: 84,856,723 M118K probably damaging Het
Olfr639 G T 7: 104,011,794 Q303K probably benign Het
Olfr873 T A 9: 20,301,163 M322K probably benign Het
Pck2 C T 14: 55,545,333 T373I probably damaging Het
Pcna C T 2: 132,251,753 E109K probably benign Het
Pecr A C 1: 72,277,340 S69A probably benign Het
Pitpnb A G 5: 111,330,830 E6G possibly damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Plbd2 A T 5: 120,493,077 F212I possibly damaging Het
Rfk T A 19: 17,398,595 H84Q possibly damaging Het
Scp2 T A 4: 108,063,906 I36F probably damaging Het
Slc9a4 A G 1: 40,580,735 T74A probably damaging Het
St6galnac1 G A 11: 116,775,299 A35V probably benign Het
Tmem8 G A 17: 26,116,834 R65Q probably damaging Het
Trav17 T C 14: 53,806,649 V4A probably benign Het
Vmn1r57 A T 7: 5,221,022 H182L possibly damaging Het
Vwa8 A T 14: 79,058,815 probably benign Het
Zgpat A G 2: 181,366,180 Y170C probably benign Het
Other mutations in 1700018B08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02700:1700018B08Rik APN 8 121535422 critical splice donor site probably null
R1475:1700018B08Rik UTSW 8 121540588 splice site probably benign
R2883:1700018B08Rik UTSW 8 121539905 missense probably damaging 1.00
R3967:1700018B08Rik UTSW 8 121539980 missense possibly damaging 0.52
R6281:1700018B08Rik UTSW 8 121531881 missense probably damaging 1.00
R6490:1700018B08Rik UTSW 8 121540554 missense probably benign 0.06
R6920:1700018B08Rik UTSW 8 121535421 critical splice donor site probably null
R6934:1700018B08Rik UTSW 8 121539973 missense probably benign 0.05
Posted On2016-08-02