Mutagenetix > Incidental Mutation

Incidental Mutation 'R7137:Insc'

553132

Institutional Source

Beutler Lab

Gene Symbol

Insc

Ensembl Gene

ENSMUSG00000048782

Gene Name

INSC spindle orientation adaptor protein

Synonyms

Inscuteable, 3830422K02Rik

MMRRC Submission

045248-MU

Accession Numbers

Essential gene?

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

Stock #

R7137 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114342931-114449615 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 114410850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 236 (V236I)

Ref Sequence

ENSEMBL: ENSMUSP00000112682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117543] [ENSMUST00000169913] [ENSMUST00000206274]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000117543
AA Change: V236I

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112682
Gene: ENSMUSG00000048782
AA Change: V236I

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: ENSMUST00000169913
AA Change: V236I

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000129505
Gene: ENSMUSG00000048782
AA Change: V236I

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

0.0707

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,654,944 (GRCm39)	S1423P	possibly damaging	Het
Acvr1c	A	G	2: 58,173,399 (GRCm39)		probably null	Het
Adgrf5	A	G	17: 43,761,788 (GRCm39)	K1161R	probably damaging	Het
Aoc1l3	A	G	6: 48,967,083 (GRCm39)	Y677C	probably damaging	Het
Arhgap32	T	G	9: 32,063,232 (GRCm39)	D80E	probably benign	Het
Aspg	T	C	12: 112,078,632 (GRCm39)	V30A	possibly damaging	Het
Bcl2a1d	T	C	9: 88,613,531 (GRCm39)	D81G	probably damaging	Het
Cep170b	T	C	12: 112,701,601 (GRCm39)	V160A	probably benign	Het
Ces1c	T	C	8: 93,857,470 (GRCm39)	Y37C	probably benign	Het
Cntnap5a	T	C	1: 116,017,106 (GRCm39)	L233P	probably damaging	Het
Crem	C	A	18: 3,273,459 (GRCm39)	A245S	possibly damaging	Het
Cyp2d12	C	T	15: 82,442,022 (GRCm39)	A280V	probably benign	Het
Dnah2	C	T	11: 69,382,381 (GRCm39)	G1243D	probably damaging	Het
Eif1ad19	A	T	12: 87,740,316 (GRCm39)	L81Q	possibly damaging	Het
Emcn	T	G	3: 137,109,752 (GRCm39)	N131K	probably damaging	Het
Fat3	A	T	9: 15,908,444 (GRCm39)	D2519E	probably damaging	Het
Fibin	T	A	2: 110,193,001 (GRCm39)	D47V	probably damaging	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
Gimap8	C	A	6: 48,627,187 (GRCm39)	L54I	probably damaging	Het
Gm20481	A	G	17: 35,189,071 (GRCm39)	Y27C	unknown	Het
Grin1	T	G	2: 25,203,550 (GRCm39)	M154L	probably benign	Het
Ighv8-13	A	G	12: 115,729,197 (GRCm39)	L20P	probably damaging	Het
Lrrk1	A	G	7: 65,935,027 (GRCm39)	F1031L	probably benign	Het
Man2a2	C	A	7: 80,009,499 (GRCm39)	R785L	probably benign	Het
Mcur1	C	A	13: 43,697,931 (GRCm39)		probably null	Het
Med12l	A	C	3: 59,165,675 (GRCm39)	R1464S	probably damaging	Het
Mycbp2	A	T	14: 103,520,115 (GRCm39)	M767K	possibly damaging	Het
Naalad2	T	C	9: 18,234,783 (GRCm39)	I762V	probably benign	Het
Nfkbid	A	G	7: 30,125,681 (GRCm39)	T357A	possibly damaging	Het
Pcdh17	A	G	14: 84,770,989 (GRCm39)	R1156G	possibly damaging	Het
Pcdhb1	T	C	18: 37,400,445 (GRCm39)	S799P	possibly damaging	Het
Pde3a	A	T	6: 141,444,472 (GRCm39)	E1093D	probably benign	Het
Plcg1	T	C	2: 160,595,846 (GRCm39)	Y572H	possibly damaging	Het
Plxna4	A	G	6: 32,494,199 (GRCm39)	L139P	probably damaging	Het
Psma1	A	G	7: 113,873,683 (GRCm39)	Y6H	probably damaging	Het
Psmd2	A	G	16: 20,471,377 (GRCm39)	E76G	probably benign	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Pyy	T	G	11: 101,998,099 (GRCm39)	D27A	possibly damaging	Het
Slc22a2	A	G	17: 12,803,228 (GRCm39)	T21A	probably benign	Het
Slc25a2	T	C	18: 37,771,200 (GRCm39)	I110V	probably benign	Het
Sult1c2	A	C	17: 54,145,422 (GRCm39)	W85G	probably damaging	Het
Syt12	C	T	19: 4,503,978 (GRCm39)	D218N	probably damaging	Het
Tln1	C	T	4: 43,540,616 (GRCm39)	V1462M	probably damaging	Het
Tor1aip2	T	A	1: 155,927,722 (GRCm39)	N33K	possibly damaging	Het
Usp17lb	C	A	7: 104,490,798 (GRCm39)	W43L	probably benign	Het
Vmn1r76	A	G	7: 11,664,612 (GRCm39)	Y201H	possibly damaging	Het
Wnk1	C	A	6: 120,015,173 (GRCm39)		probably benign	Het
Wrnip1	A	G	13: 32,986,732 (GRCm39)	D171G	probably benign	Het
Zar1	T	A	5: 72,738,159 (GRCm39)	N81I	probably damaging	Het
Zbtb45	T	C	7: 12,741,083 (GRCm39)	T392A	probably benign	Het
Zfp445	T	C	9: 122,683,843 (GRCm39)	E272G	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
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'- CCAAAACATCTGTTGCGGGC -3'
(R):5'- TAGAAGCGCATTAGGATAGACC -3'

Sequencing Primer
(F):5'- GGGCCCCCAAACCCTACTTTC -3'
(R):5'- CTATAGGAAGAGGACCAGATGGCTAC -3'

Posted On

2019-05-15