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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
PDB:3SF4|F
|
20 |
53 |
8e-17 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161800
|
SMART Domains |
Protein: ENSMUSP00000125061 Gene: ENSMUSG00000048782
Domain | Start | End | E-Value | Type |
PDB:3RO3|B
|
66 |
87 |
5e-9 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169913
|
SMART Domains |
Protein: ENSMUSP00000129505 Gene: ENSMUSG00000048782
Domain | Start | End | E-Value | Type |
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |