Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02502:Notch3'

296088

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Notch3

Ensembl Gene

ENSMUSG00000038146

Gene Name

notch 3

Synonyms

hpbk, N3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02502

Quality Score

Status

Chromosome

Chromosomal Location

32339794-32385826 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 32377252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 246 (C246*)

Ref Sequence

ENSEMBL: ENSMUSP00000085016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087723]

AlphaFold

Q61982

Predicted Effect

probably null
Transcript: ENSMUST00000087723
AA Change: C246*

SMART Domains

Protein: ENSMUSP00000085016
Gene: ENSMUSG00000038146
AA Change: C246*

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
EGF	42	78	3.73e-5	SMART
EGF	82	119	1.78e-2	SMART
EGF	123	157	1.13e-4	SMART
EGF_CA	159	196	1.89e-15	SMART
EGF	201	235	3.85e-7	SMART
EGF_CA	237	273	3.97e-9	SMART
EGF_CA	275	313	4.63e-10	SMART
EGF_CA	315	351	1.05e-8	SMART
EGF	355	390	1.28e-3	SMART
EGF_CA	392	430	6.29e-12	SMART
EGF_CA	432	468	1.11e-12	SMART
EGF_CA	470	506	4.21e-13	SMART
EGF_CA	508	544	8.43e-13	SMART
EGF_CA	546	581	9.54e-12	SMART
EGF_CA	583	619	1.31e-9	SMART
EGF_CA	621	656	2.03e-6	SMART
EGF_CA	658	694	2.28e-9	SMART
EGF	699	731	7.18e-7	SMART
EGF	738	771	2.5e-6	SMART
EGF	775	809	8e-5	SMART
EGF_CA	811	848	4.77e-12	SMART
EGF_CA	850	886	3.81e-11	SMART
EGF_CA	888	923	1.47e-12	SMART
EGF_CA	925	961	3.4e-8	SMART
EGF	966	999	5.74e-6	SMART
EGF	1004	1035	7.18e-7	SMART
EGF	1040	1083	1.21e-4	SMART
EGF_CA	1085	1121	1.29e-8	SMART
EGF_CA	1123	1159	1.45e-11	SMART
EGF_CA	1161	1204	1.26e-11	SMART
EGF	1209	1245	1.53e-1	SMART
EGF	1250	1288	8e-5	SMART
EGF	1293	1326	1.13e1	SMART
EGF	1339	1374	5.36e-6	SMART
NL	1381	1419	1.63e-15	SMART
NL	1422	1460	1.78e-16	SMART
NL	1461	1502	1.75e-15	SMART
NOD	1506	1562	2.98e-24	SMART
NODP	1577	1641	1.34e-26	SMART
transmembrane domain	1644	1666	N/A	INTRINSIC
low complexity region	1774	1783	N/A	INTRINSIC
ANK	1789	1834	1.48e3	SMART
ANK	1839	1868	1.61e-4	SMART
ANK	1872	1902	1.42e0	SMART
ANK	1906	1935	1.77e-1	SMART
ANK	1939	1968	3.18e-3	SMART
ANK	1972	2001	5.16e-3	SMART
low complexity region	2028	2054	N/A	INTRINSIC
low complexity region	2108	2123	N/A	INTRINSIC
low complexity region	2169	2193	N/A	INTRINSIC
DUF3454	2218	2275	2.81e-20	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008]
PHENOTYPE: Some, but not all, null alleles cause defects in artery morphology and in T cell development. Progressive emaciation and kyphosis with paraphimosis occurs in an intron 31 splice donor site point mutant. In conjunction with Notch1 deficiency, abnormalities in embryonic development have been observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	A	G	2: 127,917,804 (GRCm39)	N216S	probably damaging	Het
Akap12	A	G	10: 4,303,163 (GRCm39)	D96G	probably damaging	Het
Akna	A	G	4: 63,286,440 (GRCm39)	V1353A	probably benign	Het
Ambra1	A	G	2: 91,730,877 (GRCm39)	D914G	probably damaging	Het
Ap1s3	A	G	1: 79,601,439 (GRCm39)	V84A	possibly damaging	Het
Arhgef6	T	C	X: 56,325,623 (GRCm39)	E282G	probably damaging	Het
C2cd2	G	T	16: 97,677,590 (GRCm39)	S378Y	possibly damaging	Het
Cd101	C	A	3: 100,919,141 (GRCm39)	A654S	probably damaging	Het
Cep295	A	C	9: 15,262,209 (GRCm39)		probably benign	Het
Csn1s1	A	G	5: 87,828,784 (GRCm39)	I283V	probably benign	Het
Cst3	A	G	2: 148,717,065 (GRCm39)		probably benign	Het
Cyp2b9	T	C	7: 25,887,239 (GRCm39)		probably null	Het
Dffb	A	G	4: 154,050,073 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,898,351 (GRCm39)	Y3711C	probably damaging	Het
Eif4g2	T	C	7: 110,680,748 (GRCm39)	S3G	probably damaging	Het
Erbb3	C	T	10: 128,406,153 (GRCm39)	R1088H	probably benign	Het
Evpl	T	C	11: 116,113,544 (GRCm39)	D1382G	probably damaging	Het
Fam168a	A	G	7: 100,473,417 (GRCm39)	D102G	probably damaging	Het
Fbxo7	A	G	10: 85,869,161 (GRCm39)	Y284C	probably damaging	Het
G6pd2	T	C	5: 61,966,971 (GRCm39)	Y249H	probably damaging	Het
Gm1123	A	T	9: 98,891,443 (GRCm39)	Y335*	probably null	Het
Gm5624	C	T	14: 44,797,296 (GRCm39)		probably null	Het
Hectd1	A	T	12: 51,844,635 (GRCm39)	M536K	possibly damaging	Het
Ikbkg	T	A	X: 73,487,433 (GRCm39)	V334E	probably benign	Het
Ipo7	T	C	7: 109,650,257 (GRCm39)	L769P	probably damaging	Het
Jmjd1c	A	T	10: 67,061,640 (GRCm39)	K1331I	probably benign	Het
Krt32	T	C	11: 99,978,749 (GRCm39)	K102E	probably damaging	Het
Lrrc34	A	T	3: 30,699,394 (GRCm39)	N20K	probably benign	Het
Lrrc47	A	G	4: 154,100,471 (GRCm39)	E349G	probably benign	Het
Mdn1	A	G	4: 32,670,579 (GRCm39)	I415V	possibly damaging	Het
Myh10	A	G	11: 68,705,198 (GRCm39)		probably null	Het
Nbeal2	A	G	9: 110,462,836 (GRCm39)	S1376P	probably damaging	Het
Nfx1	T	C	4: 40,976,345 (GRCm39)		probably benign	Het
Nherf4	G	A	9: 44,160,948 (GRCm39)	A206V	probably benign	Het
Nr3c2	A	G	8: 77,969,143 (GRCm39)	Y976C	probably damaging	Het
Or51b17	A	G	7: 103,542,696 (GRCm39)	V82A	probably damaging	Het
Or52n4b	T	A	7: 108,143,846 (GRCm39)	M36K	probably damaging	Het
Or5b122	A	G	19: 13,563,112 (GRCm39)	Y105C	probably damaging	Het
P2rx7	C	T	5: 122,819,050 (GRCm39)	R491C	possibly damaging	Het
Phex	T	A	X: 155,966,823 (GRCm39)	Y625F	possibly damaging	Het
Pkhd1	T	C	1: 20,462,389 (GRCm39)	D2055G	probably damaging	Het
Pmm2	T	C	16: 8,463,227 (GRCm39)		probably benign	Het
Prdm15	T	C	16: 97,640,539 (GRCm39)	D16G	probably damaging	Het
Prune2	T	A	19: 17,101,245 (GRCm39)	C2250S	probably benign	Het
Rasgef1a	T	A	6: 118,057,443 (GRCm39)	F48Y	probably benign	Het
Rhoq	T	C	17: 87,271,077 (GRCm39)	V15A	probably damaging	Het
Rnf216	G	A	5: 143,054,622 (GRCm39)	A585V	probably damaging	Het
Septin9	T	A	11: 117,181,488 (GRCm39)	I96N	probably damaging	Het
Shprh	T	A	10: 11,070,101 (GRCm39)	D1492E	possibly damaging	Het
Slc22a26	A	T	19: 7,768,125 (GRCm39)		probably null	Het
Tek	T	G	4: 94,741,818 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,741,051 (GRCm39)	E782G	probably damaging	Het
Trmt5	A	G	12: 73,328,001 (GRCm39)	C401R	probably benign	Het
Tspear	T	G	10: 77,688,792 (GRCm39)		probably benign	Het
Ubr5	G	A	15: 38,030,933 (GRCm39)	T414I	probably benign	Het
Vcl	A	T	14: 21,069,453 (GRCm39)	T710S	probably damaging	Het
Vmn2r25	A	T	6: 123,816,392 (GRCm39)	D396E	probably damaging	Het
Wtip	A	G	7: 33,818,094 (GRCm39)		probably null	Het
Zap70	A	G	1: 36,817,887 (GRCm39)		probably benign	Het

Other mutations in Notch3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Notch3	APN	17	32,377,088 (GRCm39)	nonsense	probably null
IGL01065:Notch3	APN	17	32,365,390 (GRCm39)	nonsense	probably null
IGL01296:Notch3	APN	17	32,385,731 (GRCm39)	missense	unknown
IGL01322:Notch3	APN	17	32,363,445 (GRCm39)	missense	probably damaging	1.00
IGL01343:Notch3	APN	17	32,362,410 (GRCm39)	missense	probably benign	0.10
IGL01358:Notch3	APN	17	32,363,721 (GRCm39)	missense	probably damaging	1.00
IGL01600:Notch3	APN	17	32,363,472 (GRCm39)	missense	probably damaging	1.00
IGL01622:Notch3	APN	17	32,377,844 (GRCm39)	missense	possibly damaging	0.50
IGL01623:Notch3	APN	17	32,377,844 (GRCm39)	missense	possibly damaging	0.50
IGL01971:Notch3	APN	17	32,343,321 (GRCm39)	missense	probably damaging	1.00
IGL02000:Notch3	APN	17	32,341,716 (GRCm39)	missense	probably damaging	0.99
IGL02072:Notch3	APN	17	32,366,048 (GRCm39)	nonsense	probably null
IGL02145:Notch3	APN	17	32,373,715 (GRCm39)	missense	probably benign	0.01
IGL02256:Notch3	APN	17	32,351,298 (GRCm39)	missense	probably damaging	1.00
IGL02366:Notch3	APN	17	32,363,179 (GRCm39)	missense	probably benign
IGL02476:Notch3	APN	17	32,377,612 (GRCm39)	missense	possibly damaging	0.67
IGL02551:Notch3	APN	17	32,373,705 (GRCm39)	splice site	probably benign
divide	UTSW	17	32,356,787 (GRCm39)	splice site	probably null
impressed	UTSW	17	32,385,652 (GRCm39)	missense	probably benign
indented	UTSW	17	32,366,937 (GRCm39)	missense	probably benign	0.00
Lopressor	UTSW	17	32,372,858 (GRCm39)	missense	probably damaging	1.00
marginal	UTSW	17	32,383,198 (GRCm39)	missense	probably benign
PIT4486001:Notch3	UTSW	17	32,373,737 (GRCm39)	missense	probably damaging	1.00
R0115:Notch3	UTSW	17	32,352,436 (GRCm39)	missense	possibly damaging	0.82
R0201:Notch3	UTSW	17	32,375,122 (GRCm39)	splice site	probably benign
R0630:Notch3	UTSW	17	32,366,446 (GRCm39)	splice site	probably benign
R1167:Notch3	UTSW	17	32,341,719 (GRCm39)	missense	possibly damaging	0.95
R1432:Notch3	UTSW	17	32,383,198 (GRCm39)	missense	probably benign
R1567:Notch3	UTSW	17	32,377,554 (GRCm39)	missense	possibly damaging	0.77
R1623:Notch3	UTSW	17	32,358,165 (GRCm39)	missense	probably benign	0.00
R1663:Notch3	UTSW	17	32,375,093 (GRCm39)	missense	probably damaging	1.00
R1668:Notch3	UTSW	17	32,377,563 (GRCm39)	missense	probably damaging	0.99
R1789:Notch3	UTSW	17	32,377,699 (GRCm39)	missense	probably damaging	1.00
R1813:Notch3	UTSW	17	32,362,402 (GRCm39)	missense	probably benign	0.08
R1837:Notch3	UTSW	17	32,343,296 (GRCm39)	missense	probably damaging	1.00
R1896:Notch3	UTSW	17	32,362,402 (GRCm39)	missense	probably benign	0.08
R1937:Notch3	UTSW	17	32,372,826 (GRCm39)	missense	probably benign	0.03
R1954:Notch3	UTSW	17	32,385,652 (GRCm39)	missense	probably benign
R2014:Notch3	UTSW	17	32,376,974 (GRCm39)	missense	probably benign	0.00
R2058:Notch3	UTSW	17	32,362,618 (GRCm39)	missense	probably benign
R2068:Notch3	UTSW	17	32,354,482 (GRCm39)	missense	probably benign	0.00
R2097:Notch3	UTSW	17	32,341,728 (GRCm39)	missense	probably damaging	1.00
R2112:Notch3	UTSW	17	32,363,584 (GRCm39)	missense	probably benign	0.19
R2156:Notch3	UTSW	17	32,366,818 (GRCm39)	missense	probably damaging	1.00
R2211:Notch3	UTSW	17	32,366,952 (GRCm39)	missense	probably benign	0.00
R2324:Notch3	UTSW	17	32,369,108 (GRCm39)	splice site	probably benign
R2432:Notch3	UTSW	17	32,372,778 (GRCm39)	missense	probably damaging	1.00
R3117:Notch3	UTSW	17	32,377,089 (GRCm39)	missense	probably damaging	1.00
R3236:Notch3	UTSW	17	32,377,435 (GRCm39)	missense	probably damaging	0.96
R3409:Notch3	UTSW	17	32,369,676 (GRCm39)	missense	possibly damaging	0.67
R3434:Notch3	UTSW	17	32,377,592 (GRCm39)	missense	possibly damaging	0.80
R3435:Notch3	UTSW	17	32,377,592 (GRCm39)	missense	possibly damaging	0.80
R3438:Notch3	UTSW	17	32,372,564 (GRCm39)	missense	probably damaging	1.00
R3926:Notch3	UTSW	17	32,372,531 (GRCm39)	missense	possibly damaging	0.92
R4087:Notch3	UTSW	17	32,377,087 (GRCm39)	missense	possibly damaging	0.60
R4115:Notch3	UTSW	17	32,377,407 (GRCm39)	missense	probably damaging	1.00
R4214:Notch3	UTSW	17	32,351,181 (GRCm39)	missense	possibly damaging	0.96
R4234:Notch3	UTSW	17	32,360,315 (GRCm39)	missense	probably damaging	0.97
R4242:Notch3	UTSW	17	32,362,719 (GRCm39)	missense	possibly damaging	0.74
R4658:Notch3	UTSW	17	32,373,737 (GRCm39)	missense	probably damaging	1.00
R4878:Notch3	UTSW	17	32,366,059 (GRCm39)	missense	probably damaging	1.00
R4879:Notch3	UTSW	17	32,366,937 (GRCm39)	missense	probably benign	0.00
R4885:Notch3	UTSW	17	32,360,351 (GRCm39)	missense	probably damaging	0.98
R4924:Notch3	UTSW	17	32,363,705 (GRCm39)	missense	probably damaging	1.00
R5084:Notch3	UTSW	17	32,376,864 (GRCm39)	critical splice donor site	probably null
R5086:Notch3	UTSW	17	32,362,308 (GRCm39)	missense	probably benign	0.13
R5343:Notch3	UTSW	17	32,362,257 (GRCm39)	missense	probably benign	0.03
R5389:Notch3	UTSW	17	32,358,163 (GRCm39)	missense	probably benign
R5503:Notch3	UTSW	17	32,366,029 (GRCm39)	missense	probably benign	0.00
R5698:Notch3	UTSW	17	32,376,961 (GRCm39)	missense	probably damaging	1.00
R5824:Notch3	UTSW	17	32,372,835 (GRCm39)	missense	possibly damaging	0.92
R5969:Notch3	UTSW	17	32,372,858 (GRCm39)	missense	probably damaging	1.00
R6050:Notch3	UTSW	17	32,362,501 (GRCm39)	missense	probably benign
R6274:Notch3	UTSW	17	32,366,264 (GRCm39)	missense	probably benign
R6276:Notch3	UTSW	17	32,373,723 (GRCm39)	missense	probably benign	0.10
R6313:Notch3	UTSW	17	32,370,128 (GRCm39)	splice site	probably null
R6316:Notch3	UTSW	17	32,356,787 (GRCm39)	splice site	probably null
R6380:Notch3	UTSW	17	32,363,533 (GRCm39)	missense	probably damaging	1.00
R6401:Notch3	UTSW	17	32,377,597 (GRCm39)	missense	probably benign	0.01
R6502:Notch3	UTSW	17	32,377,191 (GRCm39)	missense	probably damaging	1.00
R6741:Notch3	UTSW	17	32,362,458 (GRCm39)	missense	probably benign	0.16
R7131:Notch3	UTSW	17	32,363,191 (GRCm39)	missense	probably benign
R7140:Notch3	UTSW	17	32,375,351 (GRCm39)	missense	possibly damaging	0.84
R7162:Notch3	UTSW	17	32,365,423 (GRCm39)	missense	probably damaging	0.98
R7171:Notch3	UTSW	17	32,377,936 (GRCm39)	missense	probably damaging	1.00
R7449:Notch3	UTSW	17	32,376,940 (GRCm39)	missense	probably damaging	1.00
R7450:Notch3	UTSW	17	32,360,365 (GRCm39)	missense	possibly damaging	0.69
R7554:Notch3	UTSW	17	32,341,345 (GRCm39)	missense	probably benign	0.03
R7575:Notch3	UTSW	17	32,373,793 (GRCm39)	missense	possibly damaging	0.81
R7632:Notch3	UTSW	17	32,377,480 (GRCm39)	missense	probably benign
R7633:Notch3	UTSW	17	32,377,596 (GRCm39)	missense	probably benign	0.17
R7860:Notch3	UTSW	17	32,341,747 (GRCm39)	missense	possibly damaging	0.67
R8052:Notch3	UTSW	17	32,365,545 (GRCm39)	missense	probably damaging	1.00
R8250:Notch3	UTSW	17	32,351,310 (GRCm39)	missense	probably damaging	1.00
R8296:Notch3	UTSW	17	32,341,713 (GRCm39)	missense	probably damaging	1.00
R8306:Notch3	UTSW	17	32,377,086 (GRCm39)	missense	probably damaging	0.99
R8458:Notch3	UTSW	17	32,375,024 (GRCm39)	missense	probably damaging	1.00
R8539:Notch3	UTSW	17	32,375,329 (GRCm39)	missense	possibly damaging	0.92
R8865:Notch3	UTSW	17	32,341,090 (GRCm39)	missense	probably benign	0.01
R8925:Notch3	UTSW	17	32,372,792 (GRCm39)	missense	probably benign	0.14
R8927:Notch3	UTSW	17	32,372,792 (GRCm39)	missense	probably benign	0.14
R9062:Notch3	UTSW	17	32,341,692 (GRCm39)	missense	possibly damaging	0.93
R9079:Notch3	UTSW	17	32,383,033 (GRCm39)	intron	probably benign
R9089:Notch3	UTSW	17	32,370,521 (GRCm39)	missense	probably benign	0.00
R9260:Notch3	UTSW	17	32,362,216 (GRCm39)	critical splice donor site	probably null
R9289:Notch3	UTSW	17	32,377,254 (GRCm39)	missense	probably damaging	1.00
R9294:Notch3	UTSW	17	32,362,665 (GRCm39)	missense	probably benign	0.03
R9661:Notch3	UTSW	17	32,373,792 (GRCm39)	missense	probably damaging	1.00
R9779:Notch3	UTSW	17	32,372,757 (GRCm39)	missense	probably damaging	1.00
T0975:Notch3	UTSW	17	32,365,391 (GRCm39)	missense	probably damaging	0.99
Z1088:Notch3	UTSW	17	32,377,626 (GRCm39)	missense	possibly damaging	0.94
Z1176:Notch3	UTSW	17	32,370,344 (GRCm39)	missense	probably damaging	1.00
Z1176:Notch3	UTSW	17	32,360,490 (GRCm39)	missense	probably benign	0.12
Z1177:Notch3	UTSW	17	32,385,668 (GRCm39)	missense	probably benign

Posted On

2015-04-16