Incidental Mutation 'IGL02381:Insc'
ID 291376
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Insc
Ensembl Gene ENSMUSG00000048782
Gene Name INSC spindle orientation adaptor protein
Synonyms Inscuteable, 3830422K02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # IGL02381
Quality Score
Status
Chromosome 7
Chromosomal Location 114342931-114449615 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 114449177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 533 (*533Q)
Ref Sequence ENSEMBL: ENSMUSP00000129505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117543] [ENSMUST00000169913]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000117543
AA Change: *533Q
SMART Domains Protein: ENSMUSP00000112682
Gene: ENSMUSG00000048782
AA Change: *533Q

DomainStartEndE-ValueType
Pfam:INSC_LBD 23 69 8.3e-34 PFAM
SCOP:d1jdha_ 151 497 6e-9 SMART
Blast:ARM 263 286 2e-7 BLAST
Blast:ARM 401 452 7e-21 BLAST
Blast:ARM 453 483 2e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150991
Predicted Effect probably null
Transcript: ENSMUST00000169913
AA Change: *533Q
SMART Domains Protein: ENSMUSP00000129505
Gene: ENSMUSG00000048782
AA Change: *533Q

DomainStartEndE-ValueType
PDB:3SF4|F 20 59 1e-17 PDB
low complexity region 60 78 N/A INTRINSIC
SCOP:d1jdha_ 151 497 6e-9 SMART
Blast:ARM 263 286 2e-7 BLAST
Blast:ARM 401 452 7e-21 BLAST
Blast:ARM 453 483 2e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206842
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In Drosophila, neuroblasts divide asymmetrically into another neuroblast at the apical side and a smaller ganglion mother cell on the basal side. Cell polarization is precisely regulated by 2 apically localized multiprotein signaling complexes that are tethered by Inscuteable, which regulates their apical localization (Izaki et al., 2006 [PubMed 16458856]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to abnormal cochlear hair cell morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,904,413 (GRCm39) I126F probably damaging Het
Antxrl T G 14: 33,778,568 (GRCm39) probably null Het
Arsa A T 15: 89,359,740 (GRCm39) Y62* probably null Het
Atg2b C A 12: 105,614,607 (GRCm39) C1108F probably damaging Het
Atp8a1 T C 5: 67,863,338 (GRCm39) Q651R probably benign Het
Atxn7l2 A G 3: 108,111,811 (GRCm39) probably benign Het
Cacna1f A G X: 7,482,307 (GRCm39) D597G probably damaging Het
Capn12 T C 7: 28,585,880 (GRCm39) probably benign Het
Ctnna2 A T 6: 76,931,766 (GRCm39) D624E probably benign Het
Dnah2 T C 11: 69,337,118 (GRCm39) E3274G probably benign Het
Dnah7b A T 1: 46,316,280 (GRCm39) N3131I probably damaging Het
Fam3a C T X: 73,430,690 (GRCm39) G112E probably damaging Het
Focad T G 4: 88,192,327 (GRCm39) probably benign Het
Fyb2 G A 4: 104,805,863 (GRCm39) probably benign Het
Htt C T 5: 34,987,104 (GRCm39) P1108S probably benign Het
Ift80 A T 3: 68,869,653 (GRCm39) probably null Het
Itga2 A G 13: 114,993,258 (GRCm39) C786R probably damaging Het
Lman2 A G 13: 55,499,282 (GRCm39) W198R possibly damaging Het
Med23 A G 10: 24,776,626 (GRCm39) T713A possibly damaging Het
Mtus1 A T 8: 41,536,156 (GRCm39) M520K probably benign Het
Mvd C A 8: 123,163,894 (GRCm39) G252V probably benign Het
Ncoa3 T A 2: 165,894,737 (GRCm39) V340E probably damaging Het
Necab1 A G 4: 15,148,812 (GRCm39) probably null Het
Noxred1 T C 12: 87,271,776 (GRCm39) D131G probably damaging Het
P2ry4 C A X: 99,637,807 (GRCm39) K30N probably damaging Het
Pcdhac2 T A 18: 37,277,320 (GRCm39) V100D possibly damaging Het
Piezo1 C A 8: 123,225,283 (GRCm39) R571L probably benign Het
Pkd1l2 C T 8: 117,762,539 (GRCm39) probably benign Het
Plekhm2 T C 4: 141,370,034 (GRCm39) T32A possibly damaging Het
Rev3l T C 10: 39,697,342 (GRCm39) V613A possibly damaging Het
Rp1 A G 1: 4,422,613 (GRCm39) S156P probably benign Het
Sema3f A T 9: 107,569,594 (GRCm39) D48E probably damaging Het
Shisal1 A G 15: 84,290,654 (GRCm39) S218P probably damaging Het
Slc29a4 T C 5: 142,705,854 (GRCm39) V446A probably benign Het
Sppl3 C T 5: 115,212,969 (GRCm39) probably null Het
Ttn T C 2: 76,599,982 (GRCm39) E19064G probably damaging Het
Vps35l A G 7: 118,374,598 (GRCm39) Y342C probably damaging Het
Other mutations in Insc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00795:Insc APN 7 114,441,389 (GRCm39) missense probably damaging 1.00
IGL02515:Insc APN 7 114,368,243 (GRCm39) missense probably damaging 1.00
IGL03154:Insc APN 7 114,441,424 (GRCm39) missense probably null 1.00
Rare UTSW 7 114,390,383 (GRCm39) missense probably damaging 1.00
R0139:Insc UTSW 7 114,368,237 (GRCm39) missense probably damaging 0.98
R0322:Insc UTSW 7 114,391,500 (GRCm39) missense probably damaging 0.99
R0708:Insc UTSW 7 114,444,381 (GRCm39) missense probably damaging 0.98
R0715:Insc UTSW 7 114,444,312 (GRCm39) missense probably benign 0.06
R1864:Insc UTSW 7 114,441,413 (GRCm39) missense probably benign 0.06
R2069:Insc UTSW 7 114,403,828 (GRCm39) critical splice donor site probably null
R3763:Insc UTSW 7 114,390,207 (GRCm39) missense probably damaging 1.00
R4432:Insc UTSW 7 114,368,290 (GRCm39) intron probably benign
R5331:Insc UTSW 7 114,444,273 (GRCm39) missense probably damaging 0.97
R5346:Insc UTSW 7 114,403,776 (GRCm39) missense possibly damaging 0.69
R5625:Insc UTSW 7 114,428,302 (GRCm39) missense probably damaging 0.99
R5715:Insc UTSW 7 114,449,076 (GRCm39) missense probably benign 0.04
R5860:Insc UTSW 7 114,390,383 (GRCm39) missense probably damaging 1.00
R6199:Insc UTSW 7 114,390,401 (GRCm39) splice site probably null
R7137:Insc UTSW 7 114,410,850 (GRCm39) missense probably benign 0.21
R7440:Insc UTSW 7 114,444,278 (GRCm39) missense possibly damaging 0.78
R7474:Insc UTSW 7 114,368,058 (GRCm39) critical splice donor site probably null
R7504:Insc UTSW 7 114,390,533 (GRCm39) critical splice donor site probably null
R7964:Insc UTSW 7 114,445,708 (GRCm39) missense probably damaging 1.00
R7981:Insc UTSW 7 114,428,302 (GRCm39) missense probably damaging 0.99
R7997:Insc UTSW 7 114,444,372 (GRCm39) missense probably damaging 1.00
Z1176:Insc UTSW 7 114,410,874 (GRCm39) nonsense probably null
Posted On 2015-04-16