Incidental Mutation 'R4432:Insc'
ID 328654
Institutional Source Beutler Lab
Gene Symbol Insc
Ensembl Gene ENSMUSG00000048782
Gene Name INSC spindle orientation adaptor protein
Synonyms Inscuteable, 3830422K02Rik
MMRRC Submission 041701-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R4432 (G1)
Quality Score 147
Status Validated
Chromosome 7
Chromosomal Location 114342931-114449615 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 114368290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117543] [ENSMUST00000136645] [ENSMUST00000151464] [ENSMUST00000161800] [ENSMUST00000169913]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000117543
SMART Domains Protein: ENSMUSP00000112682
Gene: ENSMUSG00000048782

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: ENSMUST00000136347
Predicted Effect probably benign
Transcript: ENSMUST00000136645
SMART Domains Protein: ENSMUSP00000119459
Gene: ENSMUSG00000048782

DomainStartEndE-ValueType
PDB:3SF4|F 20 59 1e-19 PDB
low complexity region 60 78 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139670
Predicted Effect probably benign
Transcript: ENSMUST00000151464
SMART Domains Protein: ENSMUSP00000117296
Gene: ENSMUSG00000048782

DomainStartEndE-ValueType
PDB:3SF4|F 20 53 8e-17 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000161800
SMART Domains Protein: ENSMUSP00000125061
Gene: ENSMUSG00000048782

DomainStartEndE-ValueType
PDB:3RO3|B 66 87 5e-9 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000169913
SMART Domains Protein: ENSMUSP00000129505
Gene: ENSMUSG00000048782

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (42/42)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,132,414 (GRCm39) M294V probably benign Het
Abcc5 A T 16: 20,186,937 (GRCm39) probably null Het
Acsm4 A C 7: 119,310,610 (GRCm39) E499A probably damaging Het
Adamtsl4 T C 3: 95,589,069 (GRCm39) probably null Het
Ank2 A T 3: 126,741,455 (GRCm39) probably benign Het
Anks6 G A 4: 47,044,905 (GRCm39) Q334* probably null Het
Cadps2 T A 6: 23,626,737 (GRCm39) I155L probably damaging Het
Casp4 G A 9: 5,323,653 (GRCm39) R74H probably damaging Het
Cdk14 A G 5: 5,086,427 (GRCm39) W298R probably damaging Het
Chia1 A G 3: 106,022,641 (GRCm39) N12D probably benign Het
Cibar2 C A 8: 120,901,594 (GRCm39) R37L probably damaging Het
Cyp3a59 A G 5: 146,041,596 (GRCm39) D380G probably benign Het
Dnm2 T C 9: 21,402,600 (GRCm39) probably benign Het
Dnm3 T C 1: 161,819,566 (GRCm39) probably benign Het
Dpp4 A G 2: 62,175,456 (GRCm39) Y660H probably damaging Het
H6pd T G 4: 150,080,215 (GRCm39) Y202S probably damaging Het
Hnrnpa0 T C 13: 58,275,751 (GRCm39) K126R probably benign Het
Lrrc45 G A 11: 120,606,047 (GRCm39) probably null Het
Mapkap1 T C 2: 34,509,875 (GRCm39) L263P probably damaging Het
Nmur1 A G 1: 86,315,287 (GRCm39) S160P probably damaging Het
Or4a81 A T 2: 89,619,078 (GRCm39) M206K possibly damaging Het
Or4g7 T A 2: 111,309,757 (GRCm39) C209* probably null Het
Pcdhb15 A G 18: 37,608,565 (GRCm39) N599S probably damaging Het
Pcid2 T C 8: 13,135,421 (GRCm39) D196G probably damaging Het
Pcolce2 T C 9: 95,563,610 (GRCm39) F199L probably damaging Het
Phf11c A T 14: 59,628,384 (GRCm39) N88K possibly damaging Het
Prl8a8 T A 13: 27,694,463 (GRCm39) Y109F probably benign Het
Rasa2 A G 9: 96,424,460 (GRCm39) probably benign Het
Samhd1 T C 2: 156,946,813 (GRCm39) D558G probably damaging Het
Slc1a1 T C 19: 28,880,109 (GRCm39) F263S probably benign Het
Slc27a3 G A 3: 90,294,647 (GRCm39) T408M probably damaging Het
Slc4a7 T A 14: 14,757,323 (GRCm38) N520K probably damaging Het
Szt2 A G 4: 118,241,428 (GRCm39) S1679P probably damaging Het
Trmt9b A T 8: 36,965,632 (GRCm39) I51F probably damaging Het
Vmn1r218 T C 13: 23,321,412 (GRCm39) F173S possibly damaging Het
Vmn2r32 T A 7: 7,482,918 (GRCm39) N19Y probably damaging Het
Other mutations in Insc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00795:Insc APN 7 114,441,389 (GRCm39) missense probably damaging 1.00
IGL02381:Insc APN 7 114,449,177 (GRCm39) makesense probably null
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
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
Predicted Primers PCR Primer
(F):5'- ACCAGAGTGTGAATCAGCTC -3'
(R):5'- TGTGTGAACTTTCCAGCGGG -3'

Sequencing Primer
(F):5'- CTTAAGCCCAGATTTGAGAAGTG -3'
(R):5'- AACTTTCCAGCGGGTGCAG -3'
Posted On 2015-07-21