Incidental Mutation 'IGL02933:1700008O03Rik'
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ID364190
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700008O03Rik
Ensembl Gene ENSMUSG00000008028
Gene NameRIKEN cDNA 1700008O03 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.154) question?
Stock #IGL02933
Quality Score
Status
Chromosome7
Chromosomal Location44360043-44385820 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 44363012 bp
ZygosityHeterozygous
Amino Acid Change Serine to Tyrosine at position 24 (S24Y)
Ref Sequence ENSEMBL: ENSMUSP00000103566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107933] [ENSMUST00000107938] [ENSMUST00000150886]
Predicted Effect possibly damaging
Transcript: ENSMUST00000107933
AA Change: S24Y

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103566
Gene: ENSMUSG00000008028
AA Change: S24Y

DomainStartEndE-ValueType
Pfam:DUF4732 23 179 4e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107938
SMART Domains Protein: ENSMUSP00000103571
Gene: ENSMUSG00000038738

DomainStartEndE-ValueType
low complexity region 17 46 N/A INTRINSIC
Pfam:FERM_f0 73 156 6.6e-17 PFAM
ANK 212 242 5.75e-1 SMART
ANK 246 275 3.6e-2 SMART
ANK 279 309 3.44e1 SMART
ANK 313 342 1.97e1 SMART
ANK 346 375 3.97e-4 SMART
ANK 379 407 5.69e2 SMART
low complexity region 452 479 N/A INTRINSIC
low complexity region 487 504 N/A INTRINSIC
low complexity region 521 548 N/A INTRINSIC
SH3 557 612 3.73e-16 SMART
low complexity region 648 659 N/A INTRINSIC
PDZ 672 761 2.12e-13 SMART
Blast:PDZ 804 839 5e-11 BLAST
low complexity region 929 950 N/A INTRINSIC
low complexity region 964 991 N/A INTRINSIC
low complexity region 1002 1032 N/A INTRINSIC
low complexity region 1060 1089 N/A INTRINSIC
low complexity region 1132 1147 N/A INTRINSIC
low complexity region 1171 1184 N/A INTRINSIC
low complexity region 1188 1229 N/A INTRINSIC
low complexity region 1265 1284 N/A INTRINSIC
low complexity region 1307 1332 N/A INTRINSIC
low complexity region 1357 1368 N/A INTRINSIC
low complexity region 1378 1413 N/A INTRINSIC
low complexity region 1459 1475 N/A INTRINSIC
low complexity region 1521 1541 N/A INTRINSIC
low complexity region 1548 1564 N/A INTRINSIC
low complexity region 1566 1579 N/A INTRINSIC
low complexity region 1589 1623 N/A INTRINSIC
low complexity region 1642 1676 N/A INTRINSIC
low complexity region 1694 1729 N/A INTRINSIC
low complexity region 1744 1755 N/A INTRINSIC
low complexity region 1785 1796 N/A INTRINSIC
low complexity region 1815 1832 N/A INTRINSIC
low complexity region 1843 1861 N/A INTRINSIC
low complexity region 1902 1916 N/A INTRINSIC
low complexity region 1934 1945 N/A INTRINSIC
low complexity region 1951 1985 N/A INTRINSIC
low complexity region 1997 2013 N/A INTRINSIC
low complexity region 2018 2038 N/A INTRINSIC
low complexity region 2068 2092 N/A INTRINSIC
SAM 2101 2167 1.35e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150034
Predicted Effect probably benign
Transcript: ENSMUST00000150886
SMART Domains Protein: ENSMUSP00000123280
Gene: ENSMUSG00000008028

DomainStartEndE-ValueType
low complexity region 111 125 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205409
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 T C 3: 89,343,483 T609A possibly damaging Het
Ank1 C T 8: 23,122,865 T1485I possibly damaging Het
Bbof1 A G 12: 84,426,966 N357D probably damaging Het
Btn1a1 A G 13: 23,460,527 F267S possibly damaging Het
C2cd2 A T 16: 97,892,201 F157I probably benign Het
Cd55 T C 1: 130,452,524 E239G probably damaging Het
Cnpy1 T A 5: 28,207,121 H138L probably benign Het
Cpne4 T C 9: 105,019,767 V373A possibly damaging Het
Dlg5 A T 14: 24,158,499 S880T probably benign Het
Etv1 C T 12: 38,781,833 T27I probably benign Het
Fam227b T A 2: 126,123,988 probably null Het
Flcn T C 11: 59,803,757 S130G probably damaging Het
Flvcr2 T C 12: 85,803,128 probably benign Het
Git1 C A 11: 77,501,076 H241Q probably damaging Het
Gm14496 T A 2: 182,000,463 H642Q probably benign Het
Idh1 C T 1: 65,161,913 S293N probably damaging Het
Itpr2 A G 6: 146,312,904 S1449P probably benign Het
Mmel1 T A 4: 154,883,630 L141Q probably damaging Het
Morn4 A G 19: 42,076,222 I109T probably benign Het
Mrgprh T C 17: 12,877,709 Y279H probably damaging Het
Olfr356 T A 2: 36,937,298 Y60N probably damaging Het
Osbpl8 T C 10: 111,282,130 I578T probably damaging Het
Reg2 A G 6: 78,407,934 Y153C probably damaging Het
Sall2 T C 14: 52,313,027 S902G probably benign Het
Sesn3 C T 9: 14,321,208 T259M probably damaging Het
Traf1 C A 2: 34,949,095 D73Y possibly damaging Het
Trnt1 G A 6: 106,773,426 G97D probably benign Het
Ttll11 T C 2: 35,979,410 H72R probably benign Het
Txndc12 T C 4: 108,857,996 probably null Het
Zan C A 5: 137,428,414 S2490I unknown Het
Zfp955a T C 17: 33,243,709 probably null Het
Zfyve26 A C 12: 79,280,080 S756R possibly damaging Het
Zmynd8 T C 2: 165,828,318 N412S possibly damaging Het
Other mutations in 1700008O03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:1700008O03Rik APN 7 44360186 makesense probably null
R2372:1700008O03Rik UTSW 7 44360280 missense probably damaging 1.00
R5468:1700008O03Rik UTSW 7 44360235 missense probably damaging 0.99
R5540:1700008O03Rik UTSW 7 44362947 missense probably damaging 1.00
Posted On2015-12-18