Incidental Mutation 'R3763:Insc'
| ID |
270593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Insc
|
| Ensembl Gene |
ENSMUSG00000048782 |
| Gene Name |
INSC spindle orientation adaptor protein |
| Synonyms |
Inscuteable, 3830422K02Rik |
| MMRRC Submission |
040873-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R3763 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
114342931-114449615 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114390207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 26
(D26G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117543]
[ENSMUST00000136645]
[ENSMUST00000151464]
[ENSMUST00000161800]
[ENSMUST00000169913]
[ENSMUST00000206274]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117543
AA Change: D26G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112682
Gene: ENSMUSG00000048782
AA Change: D26G
| 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 damaging
Transcript: ENSMUST00000136645
AA Change: D26G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119459
Gene: ENSMUSG00000048782
AA Change: D26G
| 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 damaging
Transcript: ENSMUST00000151464
AA Change: D26G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117296
Gene: ENSMUSG00000048782
AA Change: D26G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3SF4|F
|
20 |
53 |
8e-17 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161800
AA Change: D73G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125061
Gene: ENSMUSG00000048782
AA Change: D73G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3RO3|B
|
66 |
87 |
5e-9 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169913
AA Change: D26G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129505
Gene: ENSMUSG00000048782
AA Change: D26G
| 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
|
| Meta Mutation Damage Score |
0.3161 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (37/37) |
| 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 |
|---|
| Acvr2a |
A |
G |
2: 48,760,331 (GRCm39) |
E29G |
possibly damaging |
Het |
| Aff3 |
A |
G |
1: 38,291,770 (GRCm39) |
|
probably benign |
Het |
| AW146154 |
A |
G |
7: 41,129,794 (GRCm39) |
C441R |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,310,271 (GRCm39) |
V1443A |
possibly damaging |
Het |
| Commd1 |
T |
A |
11: 22,924,102 (GRCm39) |
F292Y |
probably benign |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| Ddx18 |
A |
G |
1: 121,489,106 (GRCm39) |
Y314H |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,802,576 (GRCm39) |
T898I |
probably damaging |
Het |
| Epc1 |
C |
A |
18: 6,440,091 (GRCm39) |
V59L |
possibly damaging |
Het |
| Etv6 |
C |
A |
6: 134,239,975 (GRCm39) |
|
probably benign |
Het |
| Fam118a |
A |
G |
15: 84,937,998 (GRCm39) |
D293G |
possibly damaging |
Het |
| Gzmn |
A |
C |
14: 56,404,361 (GRCm39) |
S159A |
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,626,072 (GRCm39) |
R756G |
probably damaging |
Het |
| Ltk |
A |
G |
2: 119,582,318 (GRCm39) |
L499P |
probably benign |
Het |
| Mast4 |
A |
T |
13: 102,923,927 (GRCm39) |
L291M |
probably damaging |
Het |
| Nefm |
G |
T |
14: 68,361,797 (GRCm39) |
R156S |
probably damaging |
Het |
| Nppc |
T |
A |
1: 86,597,580 (GRCm39) |
N63Y |
probably damaging |
Het |
| Or5p79 |
A |
T |
7: 108,221,924 (GRCm39) |
I302F |
probably damaging |
Het |
| Or6c69 |
A |
G |
10: 129,747,314 (GRCm39) |
S278P |
probably damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,474,936 (GRCm39) |
V24A |
probably benign |
Het |
| Pcm1 |
C |
A |
8: 41,733,114 (GRCm39) |
Q787K |
probably damaging |
Het |
| Prg3 |
A |
G |
2: 84,823,334 (GRCm39) |
K170E |
possibly damaging |
Het |
| Slc25a54 |
T |
C |
3: 109,019,370 (GRCm39) |
S325P |
probably damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,563,286 (GRCm39) |
V671A |
probably benign |
Het |
| Spock3 |
T |
A |
8: 63,597,049 (GRCm39) |
|
probably null |
Het |
| Stk-ps2 |
G |
A |
1: 46,069,081 (GRCm39) |
|
noncoding transcript |
Het |
| Svep1 |
T |
G |
4: 58,084,833 (GRCm39) |
D1835A |
possibly damaging |
Het |
| Tmcc3 |
A |
G |
10: 94,415,179 (GRCm39) |
T294A |
probably benign |
Het |
| Tsen54 |
A |
G |
11: 115,711,237 (GRCm39) |
N62S |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn2r18 |
G |
A |
5: 151,508,644 (GRCm39) |
A160V |
probably damaging |
Het |
| Wnk4 |
T |
C |
11: 101,160,114 (GRCm39) |
V661A |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,468,404 (GRCm39) |
Y2854C |
probably damaging |
Het |
| Zfp563 |
G |
T |
17: 33,323,902 (GRCm39) |
E166* |
probably null |
Het |
| Zfp687 |
T |
A |
3: 94,919,391 (GRCm39) |
N127I |
probably damaging |
Het |
| Zfp958 |
T |
A |
8: 4,676,226 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAAGCATTGTGCCTCCATC -3'
(R):5'- ACACTCATGCTGTGCACACG -3'
Sequencing Primer
(F):5'- AAGCATTGTGCCTCCATCTTATTAG -3'
(R):5'- ATCCTTCGAAGCTCGGTGC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation