Mutagenetix > Incidental Mutation

Incidental Mutation 'R7474:Insc'

579342

Institutional Source

Beutler Lab

Gene Symbol

Insc

Ensembl Gene

ENSMUSG00000048782

Gene Name

INSC spindle orientation adaptor protein

Synonyms

Inscuteable, 3830422K02Rik

MMRRC Submission

045548-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R7474 (G1)

Quality Score

181.009

Status

Not validated

Chromosome

Chromosomal Location

114342931-114449615 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 114368058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117543] [ENSMUST00000136645] [ENSMUST00000151464] [ENSMUST00000161800] [ENSMUST00000169913]

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 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 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,278,088 (GRCm39)	C3089*	probably null	Het
Abcc1	A	G	16: 14,290,850 (GRCm39)	T1487A	possibly damaging	Het
Agfg1	T	A	1: 82,860,132 (GRCm39)	L333*	probably null	Het
Agfg2	C	A	5: 137,652,130 (GRCm39)	V410F	possibly damaging	Het
Amotl2	T	C	9: 102,607,310 (GRCm39)	V706A	probably benign	Het
Apob	A	T	12: 8,059,185 (GRCm39)	T2556S	probably benign	Het
Asb18	T	A	1: 89,920,755 (GRCm39)	H174L	possibly damaging	Het
Atp10a	G	A	7: 58,308,275 (GRCm39)	E25K	unknown	Het
Aup1	T	C	6: 83,031,948 (GRCm39)	L65P	probably benign	Het
Blvra	T	C	2: 126,928,769 (GRCm39)	F86L	probably damaging	Het
Cabp4	T	C	19: 4,189,398 (GRCm39)	D53G	probably benign	Het
Cd300c2	T	A	11: 114,889,122 (GRCm39)	E153V	probably benign	Het
Crxos	A	G	7: 15,636,856 (GRCm39)	E143G	possibly damaging	Het
Csmd2	A	G	4: 128,439,920 (GRCm39)	N3125D		Het
Cyp2c67	T	A	19: 39,605,876 (GRCm39)	Q340L	probably null	Het
Dscam	T	A	16: 96,621,089 (GRCm39)	N540Y	possibly damaging	Het
E2f8	G	A	7: 48,525,508 (GRCm39)	R155W	probably damaging	Het
Ext1	A	T	15: 53,207,885 (GRCm39)	V292D	probably damaging	Het
Extl3	T	C	14: 65,314,090 (GRCm39)	E364G	possibly damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Fsd1	A	T	17: 56,295,149 (GRCm39)	D46V	possibly damaging	Het
Gcnt2	T	A	13: 41,111,733 (GRCm39)	L374H	probably damaging	Het
Gm10309	G	A	17: 86,812,095 (GRCm39)		probably benign	Het
Gm14410	A	T	2: 176,894,618 (GRCm39)		probably null	Het
Gm5114	A	T	7: 39,057,404 (GRCm39)	S738R	probably benign	Het
Gtf3c2	C	A	5: 31,325,100 (GRCm39)	G502W	probably damaging	Het
Kcnt2	T	C	1: 140,498,216 (GRCm39)	Y898H	possibly damaging	Het
Kctd19	C	A	8: 106,118,664 (GRCm39)	R299L	probably benign	Het
Klf10	T	C	15: 38,297,446 (GRCm39)	N198S	probably benign	Het
L3mbtl1	A	T	2: 162,808,524 (GRCm39)	D574V	probably damaging	Het
Lamc1	G	A	1: 153,208,011 (GRCm39)	A92V	possibly damaging	Het
Lrrc63	T	A	14: 75,363,643 (GRCm39)	T163S	possibly damaging	Het
Mak	T	A	13: 41,204,956 (GRCm39)	K127N	probably damaging	Het
Mdga2	G	A	12: 66,533,535 (GRCm39)	Q945*	probably null	Het
Mthfr	T	A	4: 148,137,059 (GRCm39)	I519N	possibly damaging	Het
Mtmr2	C	A	9: 13,710,521 (GRCm39)	H357N	probably damaging	Het
Myh13	A	T	11: 67,217,990 (GRCm39)	E21V	possibly damaging	Het
Myh13	A	C	11: 67,258,537 (GRCm39)	Q184P		Het
Nans	T	A	4: 46,502,484 (GRCm39)	L307Q	probably damaging	Het
Ncan	C	A	8: 70,554,691 (GRCm39)	R1042L	possibly damaging	Het
Nrg3	T	C	14: 38,733,956 (GRCm39)	E310G	probably damaging	Het
Obsl1	A	C	1: 75,474,828 (GRCm39)	N857K	probably benign	Het
Olfml2a	T	C	2: 38,850,273 (GRCm39)	V663A	probably damaging	Het
Or14j10	T	C	17: 37,935,277 (GRCm39)	D83G	probably benign	Het
Or51v15-ps1	C	A	7: 103,278,354 (GRCm39)	W271L	unknown	Het
Or52e19b	A	G	7: 103,032,969 (GRCm39)	I80T	probably damaging	Het
Or6d13	G	T	6: 116,517,999 (GRCm39)	C195F	probably damaging	Het
Or8i2	T	C	2: 86,852,898 (GRCm39)		probably benign	Het
Pla2g4a	T	C	1: 149,740,951 (GRCm39)	M363V	possibly damaging	Het
Pramel26	T	C	4: 143,538,269 (GRCm39)	D234G	probably benign	Het
Prickle1	A	T	15: 93,406,552 (GRCm39)	V157D	possibly damaging	Het
Pstk	A	G	7: 130,975,362 (GRCm39)	N105S	probably benign	Het
Ptpn21	A	G	12: 98,703,622 (GRCm39)		probably null	Het
Rnf2	T	A	1: 151,347,467 (GRCm39)	E277D	probably benign	Het
Rnpepl1	T	C	1: 92,846,694 (GRCm39)	F532S	probably benign	Het
Rtn1	C	T	12: 72,355,164 (GRCm39)	A261T	possibly damaging	Het
Ryr2	A	G	13: 11,609,762 (GRCm39)	S4355P	probably benign	Het
Sacs	T	G	14: 61,448,627 (GRCm39)	L3558V	probably benign	Het
Senp6	T	C	9: 80,049,610 (GRCm39)	V1047A	probably damaging	Het
Slco2b1	A	T	7: 99,314,039 (GRCm39)	C515S	probably damaging	Het
Smgc	T	A	15: 91,744,892 (GRCm39)	V732E	possibly damaging	Het
Sorcs1	T	C	19: 50,141,550 (GRCm39)	M1105V	possibly damaging	Het
Spats1	A	G	17: 45,768,087 (GRCm39)	Y160H	possibly damaging	Het
Tnfsf14	T	A	17: 57,497,848 (GRCm39)	D128V		Het
Tns3	T	C	11: 8,480,894 (GRCm39)	Q234R	probably damaging	Het
Uxs1	A	G	1: 43,796,184 (GRCm39)	V306A	possibly damaging	Het
Vac14	T	A	8: 111,363,066 (GRCm39)	V304D	probably damaging	Het
Vangl1	A	G	3: 102,091,565 (GRCm39)	F174L	probably benign	Het
Vav1	A	G	17: 57,606,102 (GRCm39)	E242G	probably benign	Het
Vsir	A	G	10: 60,204,701 (GRCm39)	N305D	probably benign	Het
Vwce	T	A	19: 10,624,305 (GRCm39)	C399S	possibly damaging	Het
Wrn	A	T	8: 33,819,209 (GRCm39)	L248M	probably damaging	Het
Zfp141	T	A	7: 42,125,678 (GRCm39)	K265*	probably null	Het
Zfp735	A	T	11: 73,602,002 (GRCm39)	K315N	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
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
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'- ATGTCCTGTACAATATTTGCTGGC -3'
(R):5'- TCTTGCAGAGGAACGGAATCC -3'

Sequencing Primer
(F):5'- GCCTGTGTGTCCCAATGTCAG -3'
(R):5'- ACGGAATCCAGGTGGCG -3'

Posted On

2019-10-07