Mutagenetix > Incidental Mutation

Incidental Mutation 'R5860:Insc'

453845

Institutional Source

Beutler Lab

Gene Symbol

Insc

Ensembl Gene

ENSMUSG00000048782

Gene Name

INSC spindle orientation adaptor protein

Synonyms

Inscuteable, 3830422K02Rik

MMRRC Submission

044072-MU

Accession Numbers

Essential gene?

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

Stock #

R5860 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

114342931-114449615 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 114390383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 85 (S85R)

Ref Sequence

ENSEMBL: ENSMUSP00000129505 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117543] [ENSMUST00000136645] [ENSMUST00000151464] [ENSMUST00000161800] [ENSMUST00000169913] [ENSMUST00000206274]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000117543
AA Change: S85R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112682
Gene: ENSMUSG00000048782
AA Change: S85R

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: ENSMUST00000136347

Predicted Effect

probably damaging
Transcript: ENSMUST00000136645
AA Change: S85R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119459
Gene: ENSMUSG00000048782
AA Change: S85R

Domain	Start	End	E-Value	Type
PDB:3SF4\|F	20	59	1e-19	PDB
low complexity region	60	78	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150991

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 damaging
Transcript: ENSMUST00000169913
AA Change: S85R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129505
Gene: ENSMUSG00000048782
AA Change: S85R

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

0.1941

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.1%
20x: 90.8%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568A12Rik	A	G	1: 34,524,661 (GRCm39)		noncoding transcript	Het
A2ml1	T	C	6: 128,518,024 (GRCm39)	T1421A	probably benign	Het
Actr8	T	A	14: 29,708,242 (GRCm39)	Y150*	probably null	Het
Adamts1	A	G	16: 85,595,432 (GRCm39)	C249R	probably damaging	Het
Adgre1	T	A	17: 57,752,034 (GRCm39)	I594N	probably damaging	Het
Atf6	A	T	1: 170,669,344 (GRCm39)	L119H	probably damaging	Het
Atf6	G	A	1: 170,669,345 (GRCm39)	L119F	possibly damaging	Het
B3gat2	G	A	1: 23,854,400 (GRCm39)	W33*	probably null	Het
Bach2	A	G	4: 32,580,268 (GRCm39)	D831G	probably damaging	Het
Ccnk	A	T	12: 108,153,466 (GRCm39)	I76F	probably damaging	Het
Cdyl	A	C	13: 36,042,066 (GRCm39)	K368T	possibly damaging	Het
Chi3l1	A	G	1: 134,112,909 (GRCm39)	T114A	probably benign	Het
Cnppd1	A	G	1: 75,113,131 (GRCm39)	V379A	probably benign	Het
Col11a2	C	A	17: 34,283,159 (GRCm39)		probably benign	Het
Creb3l1	T	C	2: 91,854,399 (GRCm39)	S18G	probably benign	Het
Crybg3	A	C	16: 59,385,632 (GRCm39)	D197E	probably damaging	Het
Cryga	T	C	1: 65,142,527 (GRCm39)		probably benign	Het
Cthrc1	T	C	15: 38,950,080 (GRCm39)	C146R	probably damaging	Het
Cyp2c39	A	T	19: 39,525,270 (GRCm39)	D191V	probably damaging	Het
Dchs1	C	T	7: 105,421,242 (GRCm39)	A393T	probably damaging	Het
Dhx30	G	A	9: 109,913,645 (GRCm39)	T1126I	probably damaging	Het
Dock2	C	T	11: 34,206,562 (GRCm39)	G1345R	probably damaging	Het
Dsc1	T	C	18: 20,228,081 (GRCm39)	E425G	probably damaging	Het
Dynlt2b	A	G	16: 32,247,614 (GRCm39)	Y143C	probably damaging	Het
Exosc8	C	T	3: 54,642,463 (GRCm39)		probably benign	Het
Fat1	C	T	8: 45,504,166 (GRCm39)	A4553V	probably benign	Het
Flnb	T	A	14: 7,931,135 (GRCm38)	L2119Q	probably damaging	Het
Fnbp4	T	A	2: 90,587,826 (GRCm39)	D401E	probably benign	Het
Glyctk	T	C	9: 106,032,906 (GRCm39)	E369G	possibly damaging	Het
Gm14149	C	A	2: 151,066,225 (GRCm39)		noncoding transcript	Het
Golga4	T	C	9: 118,387,174 (GRCm39)	L1432P	probably damaging	Het
Gtpbp4	A	T	13: 9,023,196 (GRCm39)	S623T	probably benign	Het
Lgr4	G	A	2: 109,821,496 (GRCm39)	R126H	probably damaging	Het
M1ap	T	A	6: 82,980,795 (GRCm39)	L227Q	probably damaging	Het
Marchf7	T	C	2: 60,067,187 (GRCm39)	I569T	probably damaging	Het
Mbd1	C	A	18: 74,409,768 (GRCm39)	C339*	probably null	Het
Moxd2	T	A	6: 40,857,341 (GRCm39)	Y473F	probably damaging	Het
Mrgpra6	T	C	7: 46,839,099 (GRCm39)	H2R	probably benign	Het
Mtus1	T	G	8: 41,529,303 (GRCm39)	L742F	probably damaging	Het
Nek11	A	G	9: 105,270,160 (GRCm39)	Y21H	probably benign	Het
Notch4	G	T	17: 34,801,392 (GRCm39)	C1080F	probably damaging	Het
Nsd3	C	A	8: 26,156,107 (GRCm39)	P558Q	probably damaging	Het
Oas1e	A	T	5: 120,930,015 (GRCm39)	S168T	probably benign	Het
Ogfr	T	C	2: 180,234,285 (GRCm39)	S119P	probably damaging	Het
Or2y15	A	G	11: 49,350,563 (GRCm39)	D19G	probably damaging	Het
Or8g20	T	A	9: 39,395,767 (GRCm39)	M261L	probably benign	Het
Pde4dip	A	G	3: 97,631,504 (GRCm39)	I1135T	possibly damaging	Het
Prex1	G	A	2: 166,486,604 (GRCm39)		probably benign	Het
Ptprf	T	C	4: 118,068,486 (GRCm39)		probably benign	Het
Rapsn	T	C	2: 90,875,859 (GRCm39)	V359A	probably damaging	Het
Ric1	A	G	19: 29,577,245 (GRCm39)	S1050G	possibly damaging	Het
Rnft2	A	G	5: 118,366,868 (GRCm39)	I290T	possibly damaging	Het
Senp7	C	A	16: 55,975,722 (GRCm39)	A476E	possibly damaging	Het
Serpinh1	G	A	7: 98,995,571 (GRCm39)	S337L	probably damaging	Het
Slc5a12	C	A	2: 110,427,969 (GRCm39)	A8D	probably benign	Het
Smg5	T	A	3: 88,250,214 (GRCm39)	C109S	probably damaging	Het
Speer4b	T	C	5: 27,705,226 (GRCm39)	H49R	possibly damaging	Het
Tas2r109	T	C	6: 132,957,664 (GRCm39)	I89V	probably benign	Het
Tet1	A	G	10: 62,648,399 (GRCm39)		probably null	Het
Tmed6	G	T	8: 107,790,786 (GRCm39)	T87K	probably damaging	Het
Tpgs1	G	A	10: 79,505,545 (GRCm39)	G101D	probably damaging	Het
Trim13	T	G	14: 61,842,188 (GRCm39)	S68R	probably damaging	Het
Vwf	A	G	6: 125,620,053 (GRCm39)	N1577S		Het
Vwf	G	T	6: 125,656,228 (GRCm39)		probably benign	Het
Xpr1	T	C	1: 155,207,868 (GRCm39)		probably benign	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zftraf1	A	T	15: 76,532,391 (GRCm39)	I239N	probably damaging	Het
Zftraf1	T	C	15: 76,540,615 (GRCm39)	Y101C	probably damaging	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	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
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'- TTCATGCAGGTAGACTCGGTTC -3'
(R):5'- TCCAGAATTCAGGAAGGCATTC -3'

Sequencing Primer
(F):5'- TAGACTCGGTTCAGCGCTG -3'
(R):5'- GCACCTACTAGCACTATCCCAG -3'

Posted On

2017-02-10