Incidental Mutation 'IGL02700:1700018B08Rik'
ID 304113
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 # IGL02700
Quality Score
Status
Chromosome 8
Chromosomal Location 122257519-122271059 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 122262161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034265] [ENSMUST00000127664] [ENSMUST00000182460] [ENSMUST00000182739] [ENSMUST00000183280]
AlphaFold Q9DA83
Predicted Effect probably null
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 probably null
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,356,942 (GRCm39) Y1291C probably damaging Het
Agtpbp1 C T 13: 59,676,233 (GRCm39) C179Y probably damaging Het
Capn15 T C 17: 26,181,982 (GRCm39) D609G probably damaging Het
Cnnm3 T A 1: 36,552,189 (GRCm39) F400I probably damaging Het
Dst A C 1: 34,301,201 (GRCm39) E1189A probably damaging Het
Gcnt1 G A 19: 17,306,780 (GRCm39) T315I probably damaging Het
H2-M1 T C 17: 36,982,161 (GRCm39) I147V possibly damaging Het
Hk1 T C 10: 62,120,590 (GRCm39) N536D probably damaging Het
Klhl5 C T 5: 65,288,773 (GRCm39) Q12* probably null Het
Lgals12 C T 19: 7,575,455 (GRCm39) A294T probably benign Het
Mideas T C 12: 84,199,636 (GRCm39) N1028S probably benign Het
Mki67 G T 7: 135,309,931 (GRCm39) S173R probably benign Het
Nedd4l C T 18: 65,342,751 (GRCm39) R755C probably damaging Het
Obox5 A G 7: 15,492,888 (GRCm39) D281G possibly damaging Het
Or4f6 T C 2: 111,839,036 (GRCm39) D165G probably benign Het
Pacs2 T A 12: 113,025,330 (GRCm39) I494N probably damaging Het
Pax5 G T 4: 44,682,722 (GRCm39) T141K probably damaging Het
Phf21b T C 15: 84,687,662 (GRCm39) N230S probably benign Het
Rab3gap1 G T 1: 127,866,342 (GRCm39) A841S probably benign Het
Siglecf T C 7: 43,001,802 (GRCm39) L204P probably damaging Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Snca G A 6: 60,804,521 (GRCm39) T22I possibly damaging Het
Syvn1 A G 19: 6,097,973 (GRCm39) T4A probably benign Het
Usp36 T C 11: 118,166,983 (GRCm39) N298S possibly damaging Het
Usp42 A T 5: 143,702,883 (GRCm39) S579R probably benign Het
Vezf1 T C 11: 87,964,129 (GRCm39) S94P probably damaging Het
Other mutations in 1700018B08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03124:1700018B08Rik APN 8 122,268,449 (GRCm39) splice site probably benign
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 2015-04-16