Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02604:Notch4'

300208

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Notch4

Ensembl Gene

ENSMUSG00000015468

Gene Name

notch 4

Synonyms

Int3, Int-3, N4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02604

Quality Score

Status

Chromosome

Chromosomal Location

34783242-34807477 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 34784362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000015612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015612] [ENSMUST00000173389]

AlphaFold

P31695

Predicted Effect

probably null
Transcript: ENSMUST00000015612

SMART Domains

Protein: ENSMUSP00000015612
Gene: ENSMUSG00000015468

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
EGF	24	60	3.2e-4	SMART
EGF	64	112	1.07e-5	SMART
EGF	118	152	5.49e-3	SMART
EGF	156	189	9.33e-6	SMART
EGF_CA	191	229	1.42e-10	SMART
EGF	234	271	1.11e-3	SMART
EGF	276	309	1.84e-4	SMART
EGF_CA	311	350	2.52e-11	SMART
EGF_CA	352	388	1.85e-9	SMART
EGF	392	427	1.58e-3	SMART
EGF_CA	429	470	2.46e-14	SMART
EGF_CA	472	508	5.03e-11	SMART
EGF_CA	510	546	6.74e-12	SMART
EGF_CA	548	584	2.98e-13	SMART
EGF_CA	586	622	7.63e-11	SMART
EGF_like	645	686	2.86e1	SMART
EGF	691	724	3.48e-5	SMART
EGF	729	762	3.62e-3	SMART
EGF_CA	764	800	1.48e-8	SMART
EGF	806	839	1.74e-5	SMART
EGF	844	877	2.3e-5	SMART
EGF	881	924	3.59e-7	SMART
EGF_CA	926	962	7.29e-8	SMART
EGF_CA	965	1000	4.42e-7	SMART
EGF_CA	1002	1040	4.56e-9	SMART
EGF	1045	1081	6.16e-6	SMART
EGF	1086	1122	8.65e-1	SMART
EGF	1129	1167	1.45e-2	SMART
NL	1159	1200	6.79e-13	SMART
NL	1203	1242	2.01e-15	SMART
NL	1243	1281	1.85e-14	SMART
NOD	1287	1341	4.37e-8	SMART
NODP	1373	1437	2.12e-6	SMART
transmembrane domain	1441	1463	N/A	INTRINSIC
low complexity region	1525	1539	N/A	INTRINSIC
ANK	1578	1623	2.5e3	SMART
ANK	1628	1657	1.12e-3	SMART
ANK	1661	1691	5.01e-1	SMART
ANK	1695	1724	1.65e-1	SMART
ANK	1728	1757	4.56e-4	SMART
ANK	1761	1790	2.88e-1	SMART
low complexity region	1889	1906	N/A	INTRINSIC
low complexity region	1925	1937	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126950

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172623

Predicted Effect

probably benign
Transcript: ENSMUST00000173389

SMART Domains

Protein: ENSMUSP00000133574
Gene: ENSMUSG00000015468

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
EGF	28	64	3.2e-4	SMART
EGF	68	116	1.07e-5	SMART
EGF	122	156	5.49e-3	SMART
EGF	160	193	9.33e-6	SMART
EGF_CA	195	233	1.42e-10	SMART
EGF	238	275	1.11e-3	SMART
EGF	280	313	1.84e-4	SMART
EGF_CA	315	354	2.52e-11	SMART
EGF_CA	356	392	1.85e-9	SMART
EGF	396	431	1.58e-3	SMART
EGF_CA	433	474	2.46e-14	SMART
EGF_CA	476	512	5.03e-11	SMART
EGF_CA	514	550	6.74e-12	SMART
EGF_CA	552	588	2.98e-13	SMART
EGF_CA	590	626	7.63e-11	SMART
EGF_like	649	690	2.86e1	SMART
EGF	695	728	3.48e-5	SMART
EGF	733	766	3.62e-3	SMART
EGF_CA	768	804	1.48e-8	SMART
EGF	810	843	1.74e-5	SMART
EGF	848	881	2.3e-5	SMART
EGF	885	928	3.59e-7	SMART
EGF_like	930	955	7.02e-1	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 a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor may play a role in vascular, renal and hepatic development. Mutations in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile but exhibit a slight delay in postnatal retinal angiogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,878,845 (GRCm39)	V61A	probably benign	Het
Arfgef1	G	A	1: 10,251,275 (GRCm39)		probably benign	Het
Arhgef4	T	A	1: 34,850,804 (GRCm39)	L594*	probably null	Het
Cacna2d3	T	C	14: 29,015,066 (GRCm39)	T375A	possibly damaging	Het
Calb2	A	C	8: 110,875,160 (GRCm39)	Y155D	probably damaging	Het
Camkmt	A	G	17: 85,404,053 (GRCm39)	T92A	possibly damaging	Het
Cfap91	A	G	16: 38,141,921 (GRCm39)		probably benign	Het
Chsy3	A	G	18: 59,542,187 (GRCm39)	S442G	probably benign	Het
Cyp4f13	T	C	17: 33,151,395 (GRCm39)	I173V	probably benign	Het
Dapk1	A	G	13: 60,896,134 (GRCm39)	T741A	probably benign	Het
Dennd3	T	C	15: 73,428,252 (GRCm39)	I866T	probably damaging	Het
Dhrs2	A	T	14: 55,474,778 (GRCm39)	I138F	possibly damaging	Het
Dscaml1	C	T	9: 45,655,626 (GRCm39)		probably benign	Het
Fsbp	A	G	4: 11,584,147 (GRCm39)	E282G	probably damaging	Het
Hpgds	A	T	6: 65,100,594 (GRCm39)	L128Q	probably damaging	Het
Hspa9	A	G	18: 35,087,266 (GRCm39)	V13A	unknown	Het
Itgb3	A	G	11: 104,553,269 (GRCm39)	E709G	probably damaging	Het
Jarid2	T	C	13: 45,027,877 (GRCm39)	S148P	probably damaging	Het
Kcna6	C	T	6: 126,716,167 (GRCm39)	G241R	probably benign	Het
Kdm5a	T	A	6: 120,408,941 (GRCm39)	N1541K	probably benign	Het
Kel	C	A	6: 41,664,516 (GRCm39)	E640D	probably damaging	Het
Lcp1	A	T	14: 75,461,566 (GRCm39)	I520F	probably benign	Het
Lgr4	A	G	2: 109,841,658 (GRCm39)	I524V	probably damaging	Het
Mup20	A	C	4: 61,970,141 (GRCm39)	Y139D	probably damaging	Het
Obox7	A	G	7: 14,399,293 (GRCm39)	E173G	probably benign	Het
Or10a49	T	A	7: 108,467,857 (GRCm39)	Y168F	probably benign	Het
Or2a25	T	A	6: 42,888,992 (GRCm39)	C178*	probably null	Het
Or5w22	A	T	2: 87,362,949 (GRCm39)	T191S	probably damaging	Het
Or8b40	C	T	9: 38,027,148 (GRCm39)	Q19*	probably null	Het
Or9i1	T	A	19: 13,839,170 (GRCm39)	N4K	probably benign	Het
Patl2	T	G	2: 121,955,814 (GRCm39)	T241P	possibly damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Plekhg6	T	C	6: 125,354,342 (GRCm39)		probably benign	Het
Pon1	C	A	6: 5,168,375 (GRCm39)	G344V	probably damaging	Het
Ppp1r21	G	T	17: 88,880,171 (GRCm39)	K529N	probably benign	Het
Prdm15	A	G	16: 97,623,142 (GRCm39)	S203P	probably benign	Het
Psmc2	T	A	5: 22,000,098 (GRCm39)		probably null	Het
Ptn	T	C	6: 36,692,653 (GRCm39)	M166V	unknown	Het
Ptpn13	A	G	5: 103,649,769 (GRCm39)	N391D	probably benign	Het
Rnf214	A	G	9: 45,780,841 (GRCm39)	S383P	probably damaging	Het
Rufy4	T	A	1: 74,173,348 (GRCm39)	L438H	probably damaging	Het
Scarf2	A	G	16: 17,621,608 (GRCm39)	T353A	probably damaging	Het
Serpinb9e	A	C	13: 33,441,742 (GRCm39)	I225L	probably benign	Het
Slc25a40	T	C	5: 8,503,219 (GRCm39)	V312A	probably benign	Het
Tmc3	A	G	7: 83,271,827 (GRCm39)	Y993C	possibly damaging	Het
Trim56	A	C	5: 137,141,930 (GRCm39)	C529G	probably damaging	Het
Trim8	T	C	19: 46,503,917 (GRCm39)	S490P	probably damaging	Het
Trmt6	A	T	2: 132,652,357 (GRCm39)	Y147*	probably null	Het
Vmn2r109	T	A	17: 20,760,963 (GRCm39)	H798L	probably damaging	Het
Vps35	A	G	8: 86,013,018 (GRCm39)	L153P	probably damaging	Het
Wdr82	T	C	9: 106,060,880 (GRCm39)	I131T	probably damaging	Het
Zfp69	A	T	4: 120,788,660 (GRCm39)	D218E	probably benign	Het

Other mutations in Notch4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Notch4	APN	17	34,794,535 (GRCm39)	critical splice donor site	probably null
IGL01022:Notch4	APN	17	34,784,671 (GRCm39)	missense	probably damaging	1.00
IGL01356:Notch4	APN	17	34,800,000 (GRCm39)	missense	possibly damaging	0.67
IGL01634:Notch4	APN	17	34,791,562 (GRCm39)	missense	probably damaging	1.00
IGL02150:Notch4	APN	17	34,803,587 (GRCm39)	missense	probably damaging	1.00
IGL02248:Notch4	APN	17	34,806,172 (GRCm39)	missense	probably damaging	1.00
IGL02271:Notch4	APN	17	34,787,445 (GRCm39)	missense	probably damaging	1.00
IGL02299:Notch4	APN	17	34,796,978 (GRCm39)	missense	probably damaging	1.00
IGL02561:Notch4	APN	17	34,787,134 (GRCm39)	splice site	probably benign
IGL03323:Notch4	APN	17	34,801,445 (GRCm39)	missense	probably damaging	1.00
IGL03366:Notch4	APN	17	34,791,542 (GRCm39)	missense	probably damaging	1.00
IGL03408:Notch4	APN	17	34,784,542 (GRCm39)	missense	probably benign	0.03
K3955:Notch4	UTSW	17	34,787,436 (GRCm39)	missense	probably damaging	1.00
R0123:Notch4	UTSW	17	34,784,337 (GRCm39)	missense	possibly damaging	0.85
R0366:Notch4	UTSW	17	34,800,473 (GRCm39)	splice site	probably benign
R0446:Notch4	UTSW	17	34,784,337 (GRCm39)	missense	possibly damaging	0.85
R0490:Notch4	UTSW	17	34,801,864 (GRCm39)	missense	probably damaging	1.00
R0504:Notch4	UTSW	17	34,794,065 (GRCm39)	missense	probably damaging	1.00
R0545:Notch4	UTSW	17	34,802,407 (GRCm39)	missense	probably damaging	1.00
R0702:Notch4	UTSW	17	34,794,177 (GRCm39)	missense	probably damaging	1.00
R0763:Notch4	UTSW	17	34,784,306 (GRCm39)	nonsense	probably null
R0854:Notch4	UTSW	17	34,787,546 (GRCm39)	missense	probably damaging	1.00
R1082:Notch4	UTSW	17	34,806,364 (GRCm39)	missense	probably damaging	1.00
R1196:Notch4	UTSW	17	34,787,837 (GRCm39)	missense	probably damaging	1.00
R1316:Notch4	UTSW	17	34,786,444 (GRCm39)	missense	probably damaging	1.00
R1493:Notch4	UTSW	17	34,786,656 (GRCm39)	nonsense	probably null
R1527:Notch4	UTSW	17	34,784,718 (GRCm39)	missense	probably damaging	1.00
R1548:Notch4	UTSW	17	34,787,396 (GRCm39)	missense	probably damaging	1.00
R1718:Notch4	UTSW	17	34,795,737 (GRCm39)	splice site	probably benign
R1855:Notch4	UTSW	17	34,799,936 (GRCm39)	missense	probably benign	0.05
R1988:Notch4	UTSW	17	34,806,562 (GRCm39)	missense	possibly damaging	0.59
R2022:Notch4	UTSW	17	34,806,502 (GRCm39)	missense	probably damaging	1.00
R2023:Notch4	UTSW	17	34,806,502 (GRCm39)	missense	probably damaging	1.00
R2078:Notch4	UTSW	17	34,787,689 (GRCm39)	critical splice acceptor site	probably null
R2369:Notch4	UTSW	17	34,804,924 (GRCm39)	missense	probably benign	0.15
R3846:Notch4	UTSW	17	34,797,071 (GRCm39)	missense	probably damaging	1.00
R3874:Notch4	UTSW	17	34,797,043 (GRCm39)	nonsense	probably null
R4087:Notch4	UTSW	17	34,803,409 (GRCm39)	missense	probably damaging	1.00
R4456:Notch4	UTSW	17	34,802,807 (GRCm39)	missense	probably damaging	0.99
R4628:Notch4	UTSW	17	34,789,159 (GRCm39)	missense	probably damaging	1.00
R4728:Notch4	UTSW	17	34,789,179 (GRCm39)	missense	probably benign	0.00
R4778:Notch4	UTSW	17	34,801,485 (GRCm39)	missense	possibly damaging	0.95
R4818:Notch4	UTSW	17	34,797,690 (GRCm39)	splice site	probably benign
R4828:Notch4	UTSW	17	34,789,034 (GRCm39)	missense	probably damaging	1.00
R4830:Notch4	UTSW	17	34,789,092 (GRCm39)	missense	probably damaging	1.00
R4859:Notch4	UTSW	17	34,806,154 (GRCm39)	missense	probably damaging	1.00
R4871:Notch4	UTSW	17	34,796,536 (GRCm39)	missense	possibly damaging	0.63
R5090:Notch4	UTSW	17	34,799,894 (GRCm39)	missense	probably damaging	0.99
R5290:Notch4	UTSW	17	34,784,263 (GRCm39)	missense	probably benign	0.01
R5363:Notch4	UTSW	17	34,806,097 (GRCm39)	missense	probably damaging	1.00
R5860:Notch4	UTSW	17	34,801,392 (GRCm39)	missense	probably damaging	1.00
R6352:Notch4	UTSW	17	34,786,435 (GRCm39)	missense	probably damaging	1.00
R6385:Notch4	UTSW	17	34,792,788 (GRCm39)	missense	probably null	0.16
R6422:Notch4	UTSW	17	34,803,533 (GRCm39)	missense	probably benign
R6645:Notch4	UTSW	17	34,806,790 (GRCm39)	missense	probably benign	0.00
R6836:Notch4	UTSW	17	34,805,074 (GRCm39)	missense	probably damaging	0.96
R6943:Notch4	UTSW	17	34,802,577 (GRCm39)	missense	probably benign
R6991:Notch4	UTSW	17	34,803,774 (GRCm39)	nonsense	probably null
R7078:Notch4	UTSW	17	34,801,520 (GRCm39)	missense	possibly damaging	0.94
R7168:Notch4	UTSW	17	34,791,667 (GRCm39)	missense	probably benign	0.05
R7182:Notch4	UTSW	17	34,802,473 (GRCm39)	missense	probably damaging	1.00
R7240:Notch4	UTSW	17	34,795,445 (GRCm39)	missense	probably benign	0.00
R7247:Notch4	UTSW	17	34,791,491 (GRCm39)	missense	probably damaging	1.00
R7556:Notch4	UTSW	17	34,794,444 (GRCm39)	missense	probably damaging	1.00
R7571:Notch4	UTSW	17	34,802,548 (GRCm39)	missense	probably damaging	0.99
R7697:Notch4	UTSW	17	34,789,159 (GRCm39)	missense	probably damaging	1.00
R7763:Notch4	UTSW	17	34,801,392 (GRCm39)	missense	probably damaging	1.00
R7994:Notch4	UTSW	17	34,797,064 (GRCm39)	missense	possibly damaging	0.82
R8139:Notch4	UTSW	17	34,803,774 (GRCm39)	nonsense	probably null
R8171:Notch4	UTSW	17	34,801,483 (GRCm39)	nonsense	probably null
R8375:Notch4	UTSW	17	34,787,228 (GRCm39)	missense	possibly damaging	0.90
R8448:Notch4	UTSW	17	34,805,763 (GRCm39)	splice site	probably null
R8543:Notch4	UTSW	17	34,787,394 (GRCm39)	missense	probably damaging	1.00
R8776:Notch4	UTSW	17	34,806,579 (GRCm39)	missense	probably damaging	1.00
R8776-TAIL:Notch4	UTSW	17	34,806,579 (GRCm39)	missense	probably damaging	1.00
R8847:Notch4	UTSW	17	34,803,962 (GRCm39)	splice site	probably benign
R8885:Notch4	UTSW	17	34,803,470 (GRCm39)	missense	possibly damaging	0.94
R9126:Notch4	UTSW	17	34,800,080 (GRCm39)	missense	probably benign	0.00
R9184:Notch4	UTSW	17	34,806,364 (GRCm39)	missense	probably damaging	1.00
R9425:Notch4	UTSW	17	34,795,801 (GRCm39)	missense	probably benign	0.42
R9434:Notch4	UTSW	17	34,801,673 (GRCm39)	missense	probably damaging	1.00
R9462:Notch4	UTSW	17	34,806,667 (GRCm39)	missense	probably benign	0.00
R9664:Notch4	UTSW	17	34,784,601 (GRCm39)	missense	probably benign	0.07
R9772:Notch4	UTSW	17	34,792,883 (GRCm39)	critical splice donor site	probably null
X0054:Notch4	UTSW	17	34,803,469 (GRCm39)	missense	probably damaging	1.00
X0067:Notch4	UTSW	17	34,805,058 (GRCm39)	nonsense	probably null
Z1088:Notch4	UTSW	17	34,806,889 (GRCm39)	missense	probably damaging	1.00
Z1177:Notch4	UTSW	17	34,806,883 (GRCm39)	missense	probably benign	0.04
Z1177:Notch4	UTSW	17	34,806,882 (GRCm39)	missense	probably damaging	0.97
Z1177:Notch4	UTSW	17	34,794,122 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16