Mutagenetix > Incidental Mutation

Incidental Mutation 'R0139:Insc'

22181

Institutional Source

Beutler Lab

Gene Symbol

Insc

Ensembl Gene

ENSMUSG00000048782

Gene Name

INSC spindle orientation adaptor protein

Synonyms

Inscuteable, 3830422K02Rik

MMRRC Submission

038424-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R0139 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

114342931-114449615 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114368237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 9 (H9L)

Ref Sequence

ENSEMBL: ENSMUSP00000117296 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000117543
AA Change: H9L

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112682
Gene: ENSMUSG00000048782
AA Change: H9L

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: H9L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119459
Gene: ENSMUSG00000048782
AA Change: H9L

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: ENSMUST00000139670

Predicted Effect

probably damaging
Transcript: ENSMUST00000151464
AA Change: H9L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117296
Gene: ENSMUSG00000048782
AA Change: H9L

Domain	Start	End	E-Value	Type
PDB:3SF4\|F	20	53	8e-17	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161800
AA Change: H56L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125061
Gene: ENSMUSG00000048782
AA Change: H56L

Domain	Start	End	E-Value	Type
PDB:3RO3\|B	66	87	5e-9	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000169913
AA Change: H9L

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000129505
Gene: ENSMUSG00000048782
AA Change: H9L

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

0.1607

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 91.2%

Validation Efficiency

97% (89/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	C	T	8: 12,329,899 (GRCm39)	S118L	unknown	Het
Adprs	A	G	4: 126,211,947 (GRCm39)	Y122H	probably damaging	Het
Ankrd52	T	C	10: 128,222,007 (GRCm39)	S544P	probably benign	Het
Aopep	A	G	13: 63,338,298 (GRCm39)	N558S	probably benign	Het
Arhgef7	A	G	8: 11,850,503 (GRCm39)	E111G	probably damaging	Het
Atp11a	A	G	8: 12,896,054 (GRCm39)	M755V	probably benign	Het
Atp2a2	A	G	5: 122,629,778 (GRCm39)	I97T	probably damaging	Het
Bmp3	G	A	5: 99,027,768 (GRCm39)	D463N	possibly damaging	Het
Cacna2d4	T	C	6: 119,255,230 (GRCm39)		probably benign	Het
Ccdc28a	G	A	10: 18,106,188 (GRCm39)	S46F	possibly damaging	Het
Ccdc40	G	A	11: 119,155,125 (GRCm39)	G1122S	probably benign	Het
Cenpw	T	G	10: 30,076,455 (GRCm39)	T8P	probably benign	Het
Cfap44	G	C	16: 44,253,785 (GRCm39)	G893R	possibly damaging	Het
Cimap3	A	T	3: 105,906,886 (GRCm39)	M171K	possibly damaging	Het
Cops7a	A	T	6: 124,938,323 (GRCm39)	C110S	probably damaging	Het
Cstl1	A	G	2: 148,597,245 (GRCm39)	N134S	probably damaging	Het
Cyp2s1	G	T	7: 25,511,114 (GRCm39)		probably null	Het
Dio2	T	A	12: 90,696,617 (GRCm39)	N124Y	probably damaging	Het
Ecel1	C	A	1: 87,082,248 (GRCm39)	G155V	possibly damaging	Het
Efr3a	G	T	15: 65,717,830 (GRCm39)	V337F	possibly damaging	Het
Eva1b	A	C	4: 126,043,446 (GRCm39)	H162P	probably damaging	Het
Exoc5	C	T	14: 49,273,493 (GRCm39)	E301K	probably damaging	Het
F13b	G	A	1: 139,435,941 (GRCm39)	S249N	probably damaging	Het
Fam120b	C	T	17: 15,646,446 (GRCm39)		probably benign	Het
Gbf1	T	C	19: 46,250,231 (GRCm39)	L396S	probably damaging	Het
Gck	T	A	11: 5,859,139 (GRCm39)	K143*	probably null	Het
Gck	C	A	11: 5,860,370 (GRCm39)	V91L	probably damaging	Het
Glt8d2	T	C	10: 82,496,644 (GRCm39)	N138S	probably damaging	Het
Gm4884	T	C	7: 40,692,387 (GRCm39)	F119L	probably benign	Het
Igsf11	T	C	16: 38,829,240 (GRCm39)	S45P	probably damaging	Het
Iho1	T	C	9: 108,289,695 (GRCm39)	T176A	probably damaging	Het
Il10	G	A	1: 130,950,271 (GRCm39)	V142M	probably damaging	Het
Iqsec1	G	T	6: 90,786,740 (GRCm39)		probably benign	Het
Katnb1	A	G	8: 95,825,050 (GRCm39)	S611G	possibly damaging	Het
Kcnb1	A	G	2: 166,947,459 (GRCm39)	I463T	possibly damaging	Het
Lao1	A	G	4: 118,821,399 (GRCm39)	N90S	probably benign	Het
Med16	T	A	10: 79,732,635 (GRCm39)	M710L	probably benign	Het
Mroh2a	G	C	1: 88,185,524 (GRCm39)	E1510D	probably damaging	Het
Mtus1	G	A	8: 41,469,233 (GRCm39)		probably benign	Het
Mybpc3	A	G	2: 90,950,682 (GRCm39)		probably benign	Het
Ndor1	C	T	2: 25,138,366 (GRCm39)	V405M	possibly damaging	Het
Nell2	A	G	15: 95,330,782 (GRCm39)	V213A	probably benign	Het
Nme8	T	C	13: 19,862,018 (GRCm39)	I204V	probably benign	Het
Nup133	A	T	8: 124,656,082 (GRCm39)	N466K	probably benign	Het
Nxt1	A	G	2: 148,517,390 (GRCm39)	T44A	probably benign	Het
Or14c46	T	C	7: 85,918,187 (GRCm39)	E270G	probably benign	Het
Or2ag15	A	T	7: 106,340,832 (GRCm39)	I103N	probably benign	Het
Or2y12	C	T	11: 49,426,401 (GRCm39)	L130F	probably benign	Het
Or4e1	T	C	14: 52,700,669 (GRCm39)	T239A	probably damaging	Het
Or4f7	A	T	2: 111,644,699 (GRCm39)	I124K	possibly damaging	Het
Or7e168	C	T	9: 19,720,165 (GRCm39)	L184F	probably damaging	Het
Pced1a	T	C	2: 130,263,827 (GRCm39)	K275R	probably benign	Het
Pdcd11	A	G	19: 47,099,398 (GRCm39)		probably null	Het
Phldb2	A	C	16: 45,591,029 (GRCm39)		probably benign	Het
Piwil1	C	A	5: 128,824,387 (GRCm39)	S490Y	probably damaging	Het
Plekhh3	T	C	11: 101,054,501 (GRCm39)		probably benign	Het
Ppargc1b	A	T	18: 61,449,034 (GRCm39)		probably benign	Het
Psg19	C	T	7: 18,530,942 (GRCm39)	V71I	possibly damaging	Het
Ptk6	T	C	2: 180,838,724 (GRCm39)		probably benign	Het
Pus7	A	G	5: 23,983,090 (GRCm39)	S126P	probably damaging	Het
Rab6b	T	A	9: 103,017,576 (GRCm39)		probably null	Het
Ranbp3	G	A	17: 57,016,272 (GRCm39)	R347Q	possibly damaging	Het
Sanbr	A	T	11: 23,570,214 (GRCm39)		probably benign	Het
Sbf1	A	T	15: 89,186,701 (GRCm39)	L866Q	probably damaging	Het
Slc25a34	A	G	4: 141,349,663 (GRCm39)	V164A	possibly damaging	Het
Smg1	A	G	7: 117,751,898 (GRCm39)		probably null	Het
Spin1	G	T	13: 51,303,048 (GRCm39)	V214L	probably benign	Het
Spmip2	A	T	3: 79,313,142 (GRCm39)	Y72F	probably damaging	Het
Sptbn1	T	C	11: 30,092,289 (GRCm39)	N492S	probably benign	Het
Stk-ps2	A	G	1: 46,068,955 (GRCm39)		noncoding transcript	Het
Taar7f	T	C	10: 23,926,312 (GRCm39)	I302T	probably benign	Het
Tdrd1	C	A	19: 56,831,630 (GRCm39)	H340Q	probably benign	Het
Thumpd3	A	G	6: 113,044,762 (GRCm39)	D498G	probably benign	Het
Tpgs2	A	G	18: 25,282,242 (GRCm39)	L103P	probably damaging	Het
Trip10	A	G	17: 57,568,633 (GRCm39)		probably null	Het
Trip6	A	T	5: 137,310,436 (GRCm39)	H269Q	probably benign	Het
Trmt12	T	C	15: 58,744,743 (GRCm39)	V47A	possibly damaging	Het
Trpm7	A	T	2: 126,654,691 (GRCm39)	S1416T	probably benign	Het
Tsks	G	A	7: 44,603,883 (GRCm39)	A438T	probably benign	Het
Ttn	T	C	2: 76,727,630 (GRCm39)		probably benign	Het
Twf2	G	A	9: 106,090,155 (GRCm39)	V136M	possibly damaging	Het
Uty	A	C	Y: 1,197,223 (GRCm39)	Y115D	probably damaging	Het
Vcan	A	G	13: 89,839,380 (GRCm39)	S2055P	probably damaging	Het
Yes1	A	G	5: 32,842,039 (GRCm39)	Q521R	possibly damaging	Het
Zfp114	A	T	7: 23,880,685 (GRCm39)	T344S	possibly damaging	Het
Zfp661	A	T	2: 127,420,532 (GRCm39)	V89D	possibly damaging	Het
Zfp91	A	T	19: 12,747,834 (GRCm39)	Y430N	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
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
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'- GACACCAGAGTGTGAATCAGCTCAG -3'
(R):5'- TCAATCGGGGCAGTCACAGAAAC -3'

Sequencing Primer
(F):5'- TGTGAATCAGCTCAGAAGAGG -3'
(R):5'- ACTGGCAGCTCTGTGTGAAC -3'

Posted On

2013-04-16