Mutagenetix > Incidental Mutation

Incidental Mutation 'R5331:Insc'

423237

Institutional Source

Beutler Lab

Gene Symbol

Insc

Ensembl Gene

ENSMUSG00000048782

Gene Name

INSC spindle orientation adaptor protein

Synonyms

Inscuteable, 3830422K02Rik

MMRRC Submission

042913-MU

Accession Numbers

Essential gene?

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

Stock #

R5331 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114342931-114449615 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114444273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 420 (M420K)

Ref Sequence

ENSEMBL: ENSMUSP00000129505 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000117543
AA Change: M420K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112682
Gene: ENSMUSG00000048782
AA Change: M420K

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 damaging
Transcript: ENSMUST00000169913
AA Change: M420K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129505
Gene: ENSMUSG00000048782
AA Change: M420K

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

Meta Mutation Damage Score

0.2409

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

100% (99/99)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,615,375 (GRCm39)	D83G	probably benign	Het
Ablim1	T	C	19: 57,143,681 (GRCm39)	T80A	probably damaging	Het
Adam6b	C	A	12: 113,454,200 (GRCm39)	P339H	possibly damaging	Het
Adgrb2	A	T	4: 129,915,995 (GRCm39)	H1505L	possibly damaging	Het
Ankrd46	G	A	15: 36,486,175 (GRCm39)	T26I	probably benign	Het
Bmpr1b	T	C	3: 141,562,176 (GRCm39)	N337S	probably damaging	Het
Ccdc47	C	T	11: 106,101,176 (GRCm39)	R162Q	probably benign	Het
Cct5	A	G	15: 31,594,448 (GRCm39)		probably benign	Het
Cdca2	T	C	14: 67,914,920 (GRCm39)	K780E	possibly damaging	Het
Cds1	T	C	5: 101,946,361 (GRCm39)	S187P	probably damaging	Het
Ces3a	G	A	8: 105,784,188 (GRCm39)	E416K	probably damaging	Het
Chd8	T	A	14: 52,439,571 (GRCm39)		probably benign	Het
Chuk	A	T	19: 44,067,394 (GRCm39)	V587E	probably damaging	Het
Clec16a	G	A	16: 10,549,543 (GRCm39)	C872Y	probably damaging	Het
Commd10	T	C	18: 47,093,497 (GRCm39)	V19A	probably damaging	Het
Ctsa	A	G	2: 164,676,229 (GRCm39)		probably benign	Het
Dnah6	T	A	6: 73,051,573 (GRCm39)	I3074F	probably damaging	Het
Dydc1	T	C	14: 40,804,320 (GRCm39)		probably null	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Elp1	T	C	4: 56,800,001 (GRCm39)	T42A	probably benign	Het
Enpp3	T	A	10: 24,684,058 (GRCm39)	N227I	probably damaging	Het
Fam131c	A	T	4: 141,110,141 (GRCm39)	T180S	probably benign	Het
Fam193a	C	A	5: 34,622,915 (GRCm39)		probably null	Het
Fbxo41	T	C	6: 85,456,888 (GRCm39)	E427G	probably benign	Het
Gabrr2	A	G	4: 33,082,583 (GRCm39)	K236E	possibly damaging	Het
Gm10152	A	T	7: 144,317,283 (GRCm39)		noncoding transcript	Het
Gm18025	C	T	12: 34,340,574 (GRCm39)	C173Y	probably benign	Het
Gm5414	C	A	15: 101,533,099 (GRCm39)	V443F	probably damaging	Het
Gm7334	T	C	17: 51,006,160 (GRCm39)	S149P	possibly damaging	Het
Gpaa1	T	A	15: 76,216,511 (GRCm39)		probably benign	Het
Grik2	G	A	10: 49,008,867 (GRCm39)	T740M	probably damaging	Het
Gvin3	T	C	7: 106,197,958 (GRCm39)		noncoding transcript	Het
Hdac5	T	C	11: 102,088,180 (GRCm39)	Y930C	probably damaging	Het
Hepacam2	T	C	6: 3,483,377 (GRCm39)	T211A	probably benign	Het
Herc4	G	T	10: 63,143,578 (GRCm39)	E703*	probably null	Het
Hras	T	C	7: 140,772,853 (GRCm39)	M1V	probably null	Het
Il23r	T	G	6: 67,400,479 (GRCm39)	Q617P	probably damaging	Het
Ints10	A	T	8: 69,273,472 (GRCm39)		probably null	Het
Kank1	A	G	19: 25,388,693 (GRCm39)	T789A	probably damaging	Het
Kat6a	T	A	8: 23,430,000 (GRCm39)	L1785Q	unknown	Het
Kcnj12	A	G	11: 60,961,012 (GRCm39)	K437E	probably benign	Het
Knl1	T	A	2: 118,900,736 (GRCm39)	D812E	possibly damaging	Het
Luc7l	C	A	17: 26,494,707 (GRCm39)	C104*	probably null	Het
Lurap1	G	A	4: 116,001,601 (GRCm39)	L31F	probably damaging	Het
Mia2	A	G	12: 59,142,598 (GRCm39)	S5G	probably benign	Het
Mon1b	C	T	8: 114,362,899 (GRCm39)	T49I	probably null	Het
Mrgprb3	T	C	7: 48,292,682 (GRCm39)	T290A	possibly damaging	Het
Ms4a20	A	G	19: 11,069,222 (GRCm39)		probably benign	Het
Mxd3	T	C	13: 55,477,071 (GRCm39)		probably benign	Het
Negr1	A	T	3: 156,774,913 (GRCm39)	K210*	probably null	Het
Nek7	A	T	1: 138,426,312 (GRCm39)		probably null	Het
Nktr	T	C	9: 121,581,834 (GRCm39)		probably benign	Het
Nrxn2	A	G	19: 6,540,111 (GRCm39)	T796A	probably damaging	Het
Nwd2	C	A	5: 63,963,859 (GRCm39)	L1148I	probably benign	Het
Or5d46	T	C	2: 88,170,332 (GRCm39)	L141P	probably damaging	Het
Osmr	G	C	15: 6,872,362 (GRCm39)	T244S	probably damaging	Het
Ovol3	T	C	7: 29,932,904 (GRCm39)	D177G	possibly damaging	Het
Pcdha4	G	A	18: 37,087,755 (GRCm39)	R646H	probably benign	Het
Pdilt	T	C	7: 119,114,147 (GRCm39)	E117G	possibly damaging	Het
Pecr	A	G	1: 72,314,005 (GRCm39)		probably benign	Het
Per3	G	T	4: 151,125,759 (GRCm39)	L187I	probably damaging	Het
Plcl2	G	A	17: 50,816,876 (GRCm39)	A81T	probably benign	Het
Polr2a	T	C	11: 69,638,101 (GRCm39)	N123D	probably benign	Het
Prex2	T	A	1: 11,210,235 (GRCm39)	D558E	possibly damaging	Het
Psma5	T	G	3: 108,175,386 (GRCm39)	V146G	possibly damaging	Het
Rgs11	A	T	17: 26,421,947 (GRCm39)	M1L	probably benign	Het
Rgsl1	T	C	1: 153,678,038 (GRCm39)	N130S	probably benign	Het
Rhbg	T	A	3: 88,152,775 (GRCm39)	T313S	probably benign	Het
Ripply2	T	A	9: 86,897,691 (GRCm39)		probably benign	Het
Scap	T	C	9: 110,210,701 (GRCm39)	V1011A	probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Scarf1	G	A	11: 75,406,406 (GRCm39)	G230D	probably damaging	Het
Slc17a8	A	G	10: 89,425,356 (GRCm39)		probably null	Het
Slc22a14	A	T	9: 119,059,662 (GRCm39)	L153Q	probably damaging	Het
Slc22a27	A	G	19: 7,856,820 (GRCm39)	I406T	probably benign	Het
Slc30a6	A	G	17: 74,730,190 (GRCm39)	D355G	probably benign	Het
Socs7	A	G	11: 97,268,852 (GRCm39)	D382G	possibly damaging	Het
Sphkap	A	G	1: 83,254,503 (GRCm39)	V1082A	probably benign	Het
Stox2	G	A	8: 47,866,662 (GRCm39)		probably benign	Het
Tacc2	T	C	7: 130,335,258 (GRCm39)	S524P	probably damaging	Het
Tbc1d9b	C	T	11: 50,037,140 (GRCm39)	A263V	probably benign	Het
Tekt5	C	T	16: 10,179,193 (GRCm39)	M391I	probably benign	Het
Tfap2b	A	T	1: 19,296,722 (GRCm39)	M222L	probably benign	Het
Themis2	T	C	4: 132,510,244 (GRCm39)	D652G	possibly damaging	Het
Tmem185b	A	G	1: 119,455,322 (GRCm39)		probably benign	Het
Trpv4	A	G	5: 114,773,604 (GRCm39)	Y253H	probably damaging	Het
Trpv5	G	A	6: 41,637,266 (GRCm39)	R358C	probably benign	Het
Ush2a	G	A	1: 188,460,578 (GRCm39)	G2613E	probably benign	Het
Usp25	C	A	16: 76,847,446 (GRCm39)	Q185K	probably damaging	Het
Xkr5	G	A	8: 18,983,484 (GRCm39)		probably benign	Het
Zfp541	C	T	7: 15,829,683 (GRCm39)	P1331S	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
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'- AGGAAAGAGGTGCCCATATCTAAC -3'
(R):5'- AATACGCTGCCCTCTGACAG -3'

Sequencing Primer
(F):5'- AACTGGCACCTCTGTTTGAGAC -3'
(R):5'- TGAGATCACTACTTTCATCCCAAG -3'

Posted On

2016-08-04