Incidental Mutation 'R6199:Insc'
| ID |
503102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Insc
|
| Ensembl Gene |
ENSMUSG00000048782 |
| Gene Name |
INSC spindle orientation adaptor protein |
| Synonyms |
Inscuteable, 3830422K02Rik |
| MMRRC Submission |
044339-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R6199 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
114342931-114449615 bp(+) (GRCm39) |
| Type of Mutation |
splice site (148 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 114390401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117543]
[ENSMUST00000136645]
[ENSMUST00000151464]
[ENSMUST00000161800]
[ENSMUST00000169913]
[ENSMUST00000206274]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117543
AA Change: I91F
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112682
Gene: ENSMUSG00000048782
AA Change: I91F
| 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 |
possibly damaging
Transcript: ENSMUST00000136645
AA Change: I91F
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119459
Gene: ENSMUSG00000048782
AA Change: I91F
| 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: ENSMUST00000150991
|
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000161800
|
| SMART Domains |
Protein: ENSMUSP00000125061
Gene: ENSMUSG00000048782
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3RO3|B
|
66 |
87 |
5e-9 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169913
AA Change: I91F
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000129505
Gene: ENSMUSG00000048782
AA Change: I91F
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206274
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (53/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
A |
T |
12: 88,407,887 (GRCm39) |
D206V |
possibly damaging |
Het |
| Ank2 |
T |
A |
3: 126,797,655 (GRCm39) |
D685V |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,809,019 (GRCm39) |
S77P |
probably benign |
Het |
| Ccdc194 |
T |
C |
8: 71,978,109 (GRCm39) |
N83D |
probably benign |
Het |
| Ceacam5 |
A |
T |
7: 17,448,810 (GRCm39) |
T59S |
probably benign |
Het |
| Cemip2 |
G |
A |
19: 21,822,186 (GRCm39) |
G1194S |
probably benign |
Het |
| Ces1e |
A |
C |
8: 93,944,163 (GRCm39) |
F218L |
probably damaging |
Het |
| Cilk1 |
T |
C |
9: 78,071,921 (GRCm39) |
V531A |
probably benign |
Het |
| Cps1 |
TGTCCATTGGTC |
TGTC |
1: 67,201,774 (GRCm39) |
|
probably null |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Eftud2 |
A |
T |
11: 102,730,883 (GRCm39) |
V843E |
probably damaging |
Het |
| Fuca2 |
G |
T |
10: 13,381,783 (GRCm39) |
W232L |
probably damaging |
Het |
| Gdf7 |
T |
C |
12: 8,348,832 (GRCm39) |
D155G |
unknown |
Het |
| Ggcx |
G |
T |
6: 72,407,122 (GRCm39) |
V753F |
possibly damaging |
Het |
| Ghrhr |
A |
T |
6: 55,356,173 (GRCm39) |
T89S |
probably benign |
Het |
| Gpr151 |
T |
C |
18: 42,711,619 (GRCm39) |
K353R |
probably benign |
Het |
| Gpr75 |
T |
C |
11: 30,841,527 (GRCm39) |
L144P |
probably damaging |
Het |
| Gsdmc2 |
A |
G |
15: 63,696,962 (GRCm39) |
I403T |
probably benign |
Het |
| H2-M1 |
A |
G |
17: 36,982,059 (GRCm39) |
S181P |
probably benign |
Het |
| Igsf5 |
C |
T |
16: 96,222,939 (GRCm39) |
S61L |
possibly damaging |
Het |
| Izumo4 |
G |
A |
10: 80,538,707 (GRCm39) |
G53D |
probably damaging |
Het |
| Ksr1 |
G |
A |
11: 78,911,267 (GRCm39) |
P693S |
possibly damaging |
Het |
| Lgals4 |
G |
A |
7: 28,535,317 (GRCm39) |
R27H |
probably damaging |
Het |
| Lpcat2b |
A |
G |
5: 107,581,171 (GRCm39) |
R167G |
probably benign |
Het |
| Man1a |
C |
T |
10: 53,890,552 (GRCm39) |
V288I |
possibly damaging |
Het |
| Map2 |
T |
G |
1: 66,464,637 (GRCm39) |
S1676A |
probably damaging |
Het |
| Mbl1 |
G |
T |
14: 40,875,572 (GRCm39) |
V9F |
unknown |
Het |
| Mrgprb8 |
T |
A |
7: 48,039,051 (GRCm39) |
C241S |
probably benign |
Het |
| Mrpl2 |
T |
C |
17: 46,960,012 (GRCm39) |
L227P |
probably damaging |
Het |
| Mthfd1 |
T |
A |
12: 76,335,685 (GRCm39) |
V253E |
probably damaging |
Het |
| Mthfd1 |
A |
G |
12: 76,350,454 (GRCm39) |
H464R |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,024,398 (GRCm39) |
M490K |
probably benign |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Notch1 |
A |
G |
2: 26,359,911 (GRCm39) |
V1268A |
probably damaging |
Het |
| Or6b2b |
A |
T |
1: 92,419,264 (GRCm39) |
I71N |
possibly damaging |
Het |
| Or8b12c |
C |
A |
9: 37,716,177 (GRCm39) |
|
probably null |
Het |
| Pgm1 |
A |
T |
4: 99,836,151 (GRCm39) |
I412F |
probably damaging |
Het |
| Plaur |
A |
T |
7: 24,164,628 (GRCm39) |
Q44L |
possibly damaging |
Het |
| Ppara |
T |
C |
15: 85,671,434 (GRCm39) |
Y112H |
probably damaging |
Het |
| Ppm1h |
G |
A |
10: 122,756,644 (GRCm39) |
V430M |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
| Prph |
A |
G |
15: 98,954,713 (GRCm39) |
T35A |
probably benign |
Het |
| Prrc2c |
C |
T |
1: 162,510,085 (GRCm39) |
G780S |
probably damaging |
Het |
| Ptchd3 |
T |
A |
11: 121,721,908 (GRCm39) |
N260K |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,002,470 (GRCm39) |
D1520G |
probably benign |
Het |
| Samd9l |
T |
A |
6: 3,376,686 (GRCm39) |
I192L |
probably benign |
Het |
| Slc39a10 |
T |
C |
1: 46,874,993 (GRCm39) |
D103G |
probably damaging |
Het |
| Smndc1 |
G |
A |
19: 53,372,063 (GRCm39) |
T117M |
probably benign |
Het |
| Tesk2 |
A |
G |
4: 116,649,367 (GRCm39) |
D159G |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,682,644 (GRCm39) |
N853K |
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,020,831 (GRCm39) |
R2491Q |
possibly 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 |
|
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 |
|
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'- TGCAGGTAGACTCGGTTCAG -3'
(R):5'- AGTCCAGAATTCAGGAAGGC -3'
Sequencing Primer
(F):5'- TAGACTCGGTTCAGCGCTG -3'
(R):5'- GAAGGCATTCCCACACCCAG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation