Incidental Mutation 'R7504:Insc'
| ID |
581671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Insc
|
| Ensembl Gene |
ENSMUSG00000048782 |
| Gene Name |
INSC spindle orientation adaptor protein |
| Synonyms |
Inscuteable, 3830422K02Rik |
| MMRRC Submission |
045577-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R7504 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
114342931-114449615 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 114390533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117543]
[ENSMUST00000117543]
[ENSMUST00000136645]
[ENSMUST00000151464]
[ENSMUST00000161800]
[ENSMUST00000169913]
[ENSMUST00000169913]
[ENSMUST00000206274]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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 |
probably null
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 |
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 |
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 null
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 |
|
| Predicted Effect |
probably null
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206274
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (43/43) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
C |
G |
17: 15,163,915 (GRCm39) |
A14G |
probably damaging |
Het |
| Btn1a1 |
A |
T |
13: 23,645,886 (GRCm39) |
M161K |
probably benign |
Het |
| Camkk2 |
G |
A |
5: 122,884,371 (GRCm39) |
T350I |
probably damaging |
Het |
| Cdc42bpg |
C |
A |
19: 6,356,814 (GRCm39) |
D23E |
possibly damaging |
Het |
| Cdkn1a |
T |
C |
17: 29,317,488 (GRCm39) |
L36P |
probably damaging |
Het |
| Dek |
A |
G |
13: 47,241,511 (GRCm39) |
I351T |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,240,098 (GRCm39) |
Y1816H |
probably damaging |
Het |
| Efl1 |
T |
A |
7: 82,332,257 (GRCm39) |
N300K |
probably damaging |
Het |
| Ephx2 |
A |
G |
14: 66,339,066 (GRCm39) |
Y294H |
probably damaging |
Het |
| Fancd2 |
T |
A |
6: 113,521,999 (GRCm39) |
I198N |
probably damaging |
Het |
| Grid1 |
G |
T |
14: 35,284,470 (GRCm39) |
A738S |
probably damaging |
Het |
| Gsx2 |
G |
A |
5: 75,237,060 (GRCm39) |
|
probably null |
Het |
| Hc |
G |
A |
2: 34,951,331 (GRCm39) |
T22I |
not run |
Het |
| Hps1 |
T |
C |
19: 42,755,159 (GRCm39) |
D261G |
probably benign |
Het |
| Ift80 |
T |
C |
3: 68,825,338 (GRCm39) |
Y539C |
probably damaging |
Het |
| Isg15 |
T |
C |
4: 156,284,502 (GRCm39) |
M9V |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 34,076,603 (GRCm39) |
L695P |
unknown |
Het |
| Nars1 |
A |
C |
18: 64,645,093 (GRCm39) |
F52V |
probably benign |
Het |
| Nmt1 |
T |
G |
11: 102,947,285 (GRCm39) |
F225V |
probably damaging |
Het |
| Or10q12 |
T |
A |
19: 13,746,096 (GRCm39) |
I130N |
probably damaging |
Het |
| Or7a36 |
A |
G |
10: 78,820,494 (GRCm39) |
Y290C |
possibly damaging |
Het |
| Or8c8 |
A |
T |
9: 38,165,539 (GRCm39) |
K272N |
possibly damaging |
Het |
| Pbx3 |
T |
C |
2: 34,065,936 (GRCm39) |
T385A |
probably damaging |
Het |
| Pcdhb11 |
A |
T |
18: 37,554,852 (GRCm39) |
T61S |
probably benign |
Het |
| Pramel40 |
G |
T |
5: 94,464,906 (GRCm39) |
V431L |
probably benign |
Het |
| Rab11fip1 |
T |
C |
8: 27,642,981 (GRCm39) |
E606G |
possibly damaging |
Het |
| Rnf216 |
A |
G |
5: 143,061,514 (GRCm39) |
Y589H |
probably benign |
Het |
| Scara3 |
A |
G |
14: 66,168,780 (GRCm39) |
I279T |
possibly damaging |
Het |
| Sdk2 |
T |
A |
11: 113,758,793 (GRCm39) |
Y477F |
possibly damaging |
Het |
| Secisbp2l |
T |
C |
2: 125,600,091 (GRCm39) |
K415E |
probably benign |
Het |
| Stag1 |
C |
T |
9: 100,770,381 (GRCm39) |
T639I |
probably benign |
Het |
| Sv2b |
A |
T |
7: 74,786,131 (GRCm39) |
F430I |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 36,030,570 (GRCm39) |
C743Y |
probably damaging |
Het |
| Tet2 |
C |
A |
3: 133,193,100 (GRCm39) |
V445L |
probably benign |
Het |
| Tmem132c |
T |
C |
5: 127,631,696 (GRCm39) |
S652P |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,039,391 (GRCm39) |
D1155G |
possibly damaging |
Het |
| Traip |
T |
C |
9: 107,838,743 (GRCm39) |
I169T |
probably benign |
Het |
| Trmt9b |
A |
C |
8: 36,979,309 (GRCm39) |
N304T |
probably benign |
Het |
| Usp45 |
T |
G |
4: 21,816,892 (GRCm39) |
M374R |
possibly damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,104,166 (GRCm39) |
H263L |
probably benign |
Het |
| Wdr95 |
T |
C |
5: 149,505,311 (GRCm39) |
V364A |
probably damaging |
Het |
| Zfp128 |
G |
A |
7: 12,624,405 (GRCm39) |
D258N |
probably damaging |
Het |
| Zfp335 |
G |
A |
2: 164,751,338 (GRCm39) |
T76I |
probably benign |
Het |
| Zfp688 |
C |
A |
7: 127,018,483 (GRCm39) |
C214F |
probably damaging |
Het |
| Zfp760 |
T |
C |
17: 21,941,655 (GRCm39) |
S277P |
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 |
|
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 |
|
|
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'- CAAGGTGACCTTATCCTAGCAGG -3'
(R):5'- AAATGCCCACTACAATGCCTTG -3'
Sequencing Primer
(F):5'- TACAGCTGCTCTTGAAACGG -3'
(R):5'- CACTACAATGCCTTGCACATG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation