Incidental Mutation 'R5625:Insc'
ID |
441801 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Insc
|
Ensembl Gene |
ENSMUSG00000048782 |
Gene Name |
INSC spindle orientation adaptor protein |
Synonyms |
Inscuteable, 3830422K02Rik |
MMRRC Submission |
043164-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.145)
|
Stock # |
R5625 (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 114428302 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 92
(T92A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145636
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117543]
[ENSMUST00000169913]
[ENSMUST00000206274]
|
AlphaFold |
no structure available at present |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104456
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117543
AA Change: T285A
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000112682 Gene: ENSMUSG00000048782 AA Change: T285A
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: ENSMUST00000150991
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169913
AA Change: T285A
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000129505 Gene: ENSMUSG00000048782 AA Change: T285A
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 damaging
Transcript: ENSMUST00000206274
AA Change: T92A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.2659 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (61/61) |
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 |
Abcg4 |
T |
G |
9: 44,189,333 (GRCm39) |
D388A |
probably benign |
Het |
Ampd3 |
A |
C |
7: 110,401,730 (GRCm39) |
E408A |
probably damaging |
Het |
Bmp1 |
G |
T |
14: 70,723,606 (GRCm39) |
N743K |
probably benign |
Het |
Brsk1 |
A |
G |
7: 4,709,399 (GRCm39) |
K398E |
probably damaging |
Het |
Ccdc157 |
A |
T |
11: 4,101,888 (GRCm39) |
M11K |
probably damaging |
Het |
Cep295 |
A |
C |
9: 15,252,187 (GRCm39) |
M394R |
probably damaging |
Het |
Cfap44 |
G |
T |
16: 44,280,710 (GRCm39) |
|
probably null |
Het |
Col13a1 |
C |
T |
10: 61,679,388 (GRCm39) |
G713R |
unknown |
Het |
Cxcr2 |
A |
T |
1: 74,197,991 (GRCm39) |
K162* |
probably null |
Het |
Cyp3a44 |
C |
T |
5: 145,716,376 (GRCm39) |
D405N |
possibly damaging |
Het |
Exo1 |
G |
T |
1: 175,721,380 (GRCm39) |
D340Y |
possibly damaging |
Het |
Farp2 |
T |
G |
1: 93,456,470 (GRCm39) |
L51R |
probably damaging |
Het |
Fat4 |
A |
T |
3: 38,943,083 (GRCm39) |
I659F |
possibly damaging |
Het |
Gbp2b |
T |
A |
3: 142,304,806 (GRCm39) |
W81R |
probably damaging |
Het |
Gipc2 |
C |
T |
3: 151,871,541 (GRCm39) |
|
probably benign |
Het |
Gm10941 |
G |
T |
10: 77,094,670 (GRCm39) |
|
probably benign |
Het |
Gm1988 |
A |
T |
7: 38,823,229 (GRCm39) |
|
noncoding transcript |
Het |
Hapln3 |
G |
T |
7: 78,767,006 (GRCm39) |
|
probably null |
Het |
Ifi213 |
A |
G |
1: 173,396,629 (GRCm39) |
S482P |
possibly damaging |
Het |
Lrrn1 |
T |
A |
6: 107,544,315 (GRCm39) |
C38S |
probably damaging |
Het |
Mycbpap |
T |
C |
11: 94,396,519 (GRCm39) |
E107G |
probably damaging |
Het |
Neb |
A |
T |
2: 52,067,547 (GRCm39) |
L5848* |
probably null |
Het |
Nrg3 |
A |
T |
14: 38,092,950 (GRCm39) |
M545K |
probably damaging |
Het |
Nudt3 |
A |
G |
17: 27,802,202 (GRCm39) |
L28P |
probably damaging |
Het |
Or8g35 |
T |
A |
9: 39,381,099 (GRCm39) |
M308L |
probably benign |
Het |
Otop1 |
A |
T |
5: 38,460,104 (GRCm39) |
Y557F |
probably damaging |
Het |
Pcare |
T |
A |
17: 72,058,321 (GRCm39) |
D452V |
probably damaging |
Het |
Pdgfra |
G |
A |
5: 75,349,998 (GRCm39) |
|
probably null |
Het |
Pi4kb |
A |
G |
3: 94,891,988 (GRCm39) |
M223V |
probably benign |
Het |
Piezo1 |
T |
C |
8: 123,209,699 (GRCm39) |
T2335A |
probably benign |
Het |
Ppp6c |
A |
G |
2: 39,087,453 (GRCm39) |
V251A |
probably benign |
Het |
Prkg1 |
C |
T |
19: 31,742,162 (GRCm39) |
E21K |
possibly damaging |
Het |
Ptpru |
T |
C |
4: 131,530,691 (GRCm39) |
E521G |
probably null |
Het |
Rasl10b |
G |
T |
11: 83,309,640 (GRCm39) |
R199L |
probably damaging |
Het |
Rhbdf2 |
G |
A |
11: 116,496,203 (GRCm39) |
R111C |
probably damaging |
Het |
Sec23ip |
G |
T |
7: 128,346,707 (GRCm39) |
|
probably benign |
Het |
Sptbn5 |
A |
T |
2: 119,910,273 (GRCm39) |
|
noncoding transcript |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Syne2 |
T |
C |
12: 76,141,886 (GRCm39) |
S6141P |
probably benign |
Het |
Szt2 |
A |
G |
4: 118,230,414 (GRCm39) |
V2653A |
unknown |
Het |
Tex46 |
T |
C |
4: 136,337,925 (GRCm39) |
F39S |
probably damaging |
Het |
Tmem50a |
AACCA |
AA |
4: 134,625,778 (GRCm39) |
|
probably benign |
Het |
Tmem62 |
G |
T |
2: 120,820,874 (GRCm39) |
W180L |
probably damaging |
Het |
Tnxb |
G |
A |
17: 34,904,185 (GRCm39) |
A1232T |
probably benign |
Het |
Tubgcp3 |
T |
C |
8: 12,674,888 (GRCm39) |
H744R |
possibly damaging |
Het |
Uggt2 |
A |
G |
14: 119,315,136 (GRCm39) |
I311T |
probably damaging |
Het |
Usp8 |
C |
T |
2: 126,584,197 (GRCm39) |
R469C |
probably damaging |
Het |
Vmn1r19 |
T |
C |
6: 57,382,281 (GRCm39) |
L278S |
probably damaging |
Het |
Vmn2r129 |
A |
T |
4: 156,686,505 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r59 |
A |
T |
7: 41,695,884 (GRCm39) |
I176N |
probably benign |
Het |
Wdr93 |
A |
G |
7: 79,420,766 (GRCm39) |
T376A |
probably benign |
Het |
Zfp575 |
G |
A |
7: 24,285,077 (GRCm39) |
A188V |
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 |
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'- TTCCTGGGTTCAAAGCAGAG -3'
(R):5'- TGCTTAGGCCCTATCACCTAGG -3'
Sequencing Primer
(F):5'- CAACTTTGGGTCATTTGGGAAG -3'
(R):5'- TTAGGCCCTATCACCTAGGTAACC -3'
|
Posted On |
2016-11-08 |