Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02158:Notch1'

282335

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Notch1

Ensembl Gene

ENSMUSG00000026923

Gene Name

notch 1

Synonyms

9930111A19Rik, Motch A, Tan1, Mis6, lin-12, N1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02158

Quality Score

Status

Chromosome

Chromosomal Location

26347914-26393834 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26350351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 2263 (L2263P)

Ref Sequence

ENSEMBL: ENSMUSP00000028288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028288]

AlphaFold

Q01705

PDB Structure

The Crystal Structure of a Partial Mouse Notch-1 Ankyrin Domain: Repeats 4 Through 7 Preserve an Ankyrin Fold [X-RAY DIFFRACTION]
Mouse Notch 1 Ankyrin Repeat Intracellular Domain [X-RAY DIFFRACTION]
Structure of sugar modified epidermal growth factor-like repeat 12 of mouse Notch-1 receptor [SOLUTION NMR]
Structure of epidermal growth factor-like repeat 12 of mouse Notch-1 receptor [SOLUTION NMR]
Structure of O-fucosylated epidermal growth factor-like repeat 12 of mouse Notch-1 receptor [SOLUTION NMR]
Factor inhibiting HIF-1 Alpha in complex with Notch 1 fragment mouse notch (1930-1949) peptide [X-RAY DIFFRACTION]
Factor inhibiting HIF-1 Alpha in complex with Notch 1 fragment mouse notch (1997-2016) peptide [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028288
AA Change: L2263P

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

SMART Domains

Protein: ENSMUSP00000028288
Gene: ENSMUSG00000026923
AA Change: L2263P

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
EGF	23	58	1.63e1	SMART
EGF	62	99	4.29e-5	SMART
EGF	105	139	6.25e-7	SMART
EGF_CA	140	176	1.02e-6	SMART
EGF_CA	178	216	4.21e-13	SMART
EGF	221	255	6.7e-7	SMART
EGF_CA	257	293	6.8e-8	SMART
EGF_CA	295	333	1.16e-10	SMART
EGF_CA	335	371	3.17e-8	SMART
EGF	375	410	5.32e-1	SMART
EGF_CA	412	450	4.59e-14	SMART
EGF_CA	452	488	1.02e-11	SMART
EGF_CA	490	526	4.81e-8	SMART
EGF_CA	528	564	3.19e-13	SMART
EGF_CA	566	601	1.91e-11	SMART
EGF_CA	603	639	1.78e-11	SMART
EGF_CA	641	676	9.62e-8	SMART
EGF_CA	678	714	2.38e-12	SMART
EGF_CA	716	751	5.23e-9	SMART
EGF_CA	753	789	6.25e-7	SMART
EGF_CA	791	827	1.1e-11	SMART
EGF	832	867	2.03e-6	SMART
EGF_CA	869	905	5.73e-15	SMART
EGF_CA	907	943	4.56e-9	SMART
EGF_CA	945	981	1.64e-10	SMART
EGF_CA	983	1019	5.83e-7	SMART
EGF_CA	1021	1057	1.05e-13	SMART
EGF	1062	1095	8.12e-6	SMART
EGF	1100	1143	5.66e-5	SMART
EGF_CA	1145	1181	1.1e-11	SMART
EGF_CA	1183	1219	3.87e-12	SMART
EGF_CA	1221	1265	2.89e-11	SMART
EGF_CA	1267	1305	1.2e-8	SMART
EGF	1310	1346	5.74e-6	SMART
EGF	1351	1384	4.1e-2	SMART
EGF	1390	1426	2.66e-1	SMART
NL	1442	1480	4.08e-16	SMART
NL	1483	1522	1.08e-15	SMART
NL	1523	1562	7.39e-14	SMART
NOD	1566	1622	1.81e-32	SMART
NODP	1660	1722	3.27e-30	SMART
low complexity region	1729	1746	N/A	INTRINSIC
ANK	1870	1912	1.07e2	SMART
ANK	1917	1946	4.82e-3	SMART
ANK	1950	1980	6.71e-2	SMART
ANK	1984	2013	1.23e0	SMART
ANK	2017	2046	9.13e-4	SMART
ANK	2050	2079	2.97e-3	SMART
low complexity region	2205	2222	N/A	INTRINSIC
low complexity region	2364	2395	N/A	INTRINSIC
DUF3454	2453	2517	2.01e-30	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151521

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156099

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 plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,163,902 (GRCm39)		probably null	Het
Abca2	A	G	2: 25,337,891 (GRCm39)		probably benign	Het
Abcb11	A	T	2: 69,130,269 (GRCm39)	S262R	probably damaging	Het
Abhd12	T	A	2: 150,690,341 (GRCm39)	Q118L	probably benign	Het
Adam1a	A	T	5: 121,657,034 (GRCm39)	L753*	probably null	Het
Ahctf1	A	T	1: 179,607,217 (GRCm39)	I699N	possibly damaging	Het
Arl11	C	A	14: 61,548,487 (GRCm39)	A99E	probably damaging	Het
Atp5po	G	A	16: 91,727,289 (GRCm39)	R16W	probably damaging	Het
AW551984	T	C	9: 39,510,621 (GRCm39)	H238R	probably null	Het
Bpifb9a	C	A	2: 154,108,733 (GRCm39)		probably benign	Het
Carhsp1	A	G	16: 8,481,577 (GRCm39)		probably benign	Het
Ccdc33	T	C	9: 57,937,702 (GRCm39)	D623G	probably damaging	Het
Chd6	C	A	2: 160,868,212 (GRCm39)	R378L	possibly damaging	Het
Chn2	T	C	6: 54,277,230 (GRCm39)		probably benign	Het
Clgn	T	G	8: 84,149,765 (GRCm39)	I422S	probably damaging	Het
Col15a1	T	A	4: 47,300,606 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2c39	T	C	19: 39,556,574 (GRCm39)	I470T	probably benign	Het
Dcaf11	T	A	14: 55,801,980 (GRCm39)		probably null	Het
Dnah1	G	T	14: 31,022,924 (GRCm39)	T1071K	probably benign	Het
Dnah2	T	A	11: 69,348,949 (GRCm39)	M2513L	probably benign	Het
Dqx1	A	G	6: 83,035,891 (GRCm39)		probably benign	Het
Gm1587	T	C	14: 78,036,282 (GRCm39)	E8G	unknown	Het
Hydin	T	C	8: 111,336,598 (GRCm39)	I5125T	possibly damaging	Het
Ighv5-9	G	T	12: 113,625,563 (GRCm39)	P60Q	probably damaging	Het
Itga7	T	G	10: 128,789,651 (GRCm39)	L993R	possibly damaging	Het
Itpr3	A	G	17: 27,317,416 (GRCm39)	N857S	probably damaging	Het
Krt23	C	T	11: 99,383,490 (GRCm39)		probably benign	Het
Lrp1	T	C	10: 127,390,140 (GRCm39)	N3093S	probably benign	Het
Mms22l	T	C	4: 24,505,349 (GRCm39)	F203S	probably damaging	Het
Morn5	A	G	2: 35,947,088 (GRCm39)	D122G	probably damaging	Het
Mpp2	G	T	11: 101,954,088 (GRCm39)	L220I	probably benign	Het
Mrgpra6	A	T	7: 46,835,700 (GRCm39)	Y240*	probably null	Het
Mtmr12	T	C	15: 12,238,016 (GRCm39)	I165T	probably damaging	Het
Mylk2	C	A	2: 152,761,077 (GRCm39)	N428K	probably damaging	Het
Nfil3	A	G	13: 53,122,188 (GRCm39)	Y239H	probably damaging	Het
Or2g7	T	A	17: 38,378,158 (GRCm39)	I32N	probably damaging	Het
Or8b101	A	G	9: 38,020,425 (GRCm39)	M148V	probably benign	Het
P3h3	A	T	6: 124,830,055 (GRCm39)	Y387N	probably damaging	Het
Pdcd6ip	A	T	9: 113,509,121 (GRCm39)	Y324*	probably null	Het
Plcb2	C	A	2: 118,541,844 (GRCm39)	R922L	probably benign	Het
Pml	T	C	9: 58,154,286 (GRCm39)	T196A	probably benign	Het
Ppp2r1b	C	A	9: 50,772,909 (GRCm39)	Q65K	probably benign	Het
Ric8a	A	G	7: 140,442,270 (GRCm39)	T507A	probably benign	Het
Sec16a	A	G	2: 26,306,644 (GRCm39)		probably null	Het
Slc46a3	G	T	5: 147,823,044 (GRCm39)	T266N	probably damaging	Het
Smg1	A	G	7: 117,812,169 (GRCm39)	S41P	possibly damaging	Het
Snrnp200	T	A	2: 127,079,403 (GRCm39)	N1837K	probably benign	Het
Sptan1	A	G	2: 29,920,336 (GRCm39)	T2318A	probably damaging	Het
St7l	C	T	3: 104,782,148 (GRCm39)	T175I	possibly damaging	Het
Tmc7	G	A	7: 118,137,434 (GRCm39)	R703C	probably damaging	Het
Urah	A	G	7: 140,416,799 (GRCm39)		probably benign	Het
Vmn1r42	A	T	6: 89,822,296 (GRCm39)	I91N	probably damaging	Het
Yy1	T	A	12: 108,780,525 (GRCm39)		probably benign	Het

Other mutations in Notch1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Notch1	APN	2	26,350,058 (GRCm39)	missense	probably damaging	0.98
IGL01343:Notch1	APN	2	26,362,917 (GRCm39)	missense	probably benign	0.25
IGL02066:Notch1	APN	2	26,350,408 (GRCm39)	missense	possibly damaging	0.71
IGL02541:Notch1	APN	2	26,358,515 (GRCm39)	missense	probably benign	0.12
IGL03280:Notch1	APN	2	26,367,886 (GRCm39)	intron	probably benign
IGL03338:Notch1	APN	2	26,349,971 (GRCm39)	missense	probably benign
Antero	UTSW	2	26,366,126 (GRCm39)	missense	possibly damaging	0.96
march	UTSW	2	26,359,911 (GRCm39)	missense	probably damaging	0.98
PIT4494001:Notch1	UTSW	2	26,356,485 (GRCm39)	missense	probably damaging	1.00
R0013:Notch1	UTSW	2	26,363,830 (GRCm39)	missense	possibly damaging	0.64
R0025:Notch1	UTSW	2	26,360,943 (GRCm39)	missense	probably damaging	1.00
R0129:Notch1	UTSW	2	26,350,470 (GRCm39)	missense	probably benign	0.06
R0285:Notch1	UTSW	2	26,350,873 (GRCm39)	missense	possibly damaging	0.88
R0531:Notch1	UTSW	2	26,356,584 (GRCm39)	missense	probably benign	0.00
R0747:Notch1	UTSW	2	26,362,152 (GRCm39)	missense	unknown
R1440:Notch1	UTSW	2	26,370,976 (GRCm39)	intron	probably benign
R1502:Notch1	UTSW	2	26,374,335 (GRCm39)	missense	possibly damaging	0.95
R1539:Notch1	UTSW	2	26,362,125 (GRCm39)	nonsense	probably null
R1623:Notch1	UTSW	2	26,368,624 (GRCm39)	missense	possibly damaging	0.88
R1844:Notch1	UTSW	2	26,350,446 (GRCm39)	missense	probably benign	0.12
R1863:Notch1	UTSW	2	26,359,962 (GRCm39)	missense	probably damaging	1.00
R1874:Notch1	UTSW	2	26,371,591 (GRCm39)	missense	possibly damaging	0.89
R1926:Notch1	UTSW	2	26,371,669 (GRCm39)	missense	probably damaging	1.00
R2156:Notch1	UTSW	2	26,350,873 (GRCm39)	missense	possibly damaging	0.91
R2196:Notch1	UTSW	2	26,353,816 (GRCm39)	nonsense	probably null
R2209:Notch1	UTSW	2	26,350,019 (GRCm39)	missense	probably benign
R2382:Notch1	UTSW	2	26,363,793 (GRCm39)	missense	probably benign	0.40
R2508:Notch1	UTSW	2	26,355,485 (GRCm39)	missense	possibly damaging	0.80
R2873:Notch1	UTSW	2	26,350,247 (GRCm39)	missense	possibly damaging	0.89
R2874:Notch1	UTSW	2	26,350,247 (GRCm39)	missense	possibly damaging	0.89
R3798:Notch1	UTSW	2	26,368,630 (GRCm39)	missense	probably benign	0.00
R4019:Notch1	UTSW	2	26,371,154 (GRCm39)	missense	probably benign	0.03
R4305:Notch1	UTSW	2	26,367,936 (GRCm39)	missense	probably damaging	1.00
R4334:Notch1	UTSW	2	26,350,048 (GRCm39)	missense	probably benign	0.22
R4504:Notch1	UTSW	2	26,362,189 (GRCm39)	missense	probably benign	0.16
R4624:Notch1	UTSW	2	26,368,093 (GRCm39)	missense	possibly damaging	0.94
R4659:Notch1	UTSW	2	26,360,901 (GRCm39)	missense	probably damaging	0.99
R4703:Notch1	UTSW	2	26,361,170 (GRCm39)	missense	probably benign
R4869:Notch1	UTSW	2	26,361,191 (GRCm39)	missense	probably benign	0.21
R4938:Notch1	UTSW	2	26,364,136 (GRCm39)	nonsense	probably null
R4989:Notch1	UTSW	2	26,371,193 (GRCm39)	missense	probably damaging	1.00
R5010:Notch1	UTSW	2	26,366,126 (GRCm39)	missense	possibly damaging	0.96
R5283:Notch1	UTSW	2	26,358,638 (GRCm39)	missense	probably damaging	1.00
R5303:Notch1	UTSW	2	26,368,631 (GRCm39)	missense	probably benign	0.01
R5635:Notch1	UTSW	2	26,366,173 (GRCm39)	missense	probably damaging	1.00
R5755:Notch1	UTSW	2	26,363,704 (GRCm39)	missense	probably benign	0.12
R5926:Notch1	UTSW	2	26,366,116 (GRCm39)	missense	probably benign	0.35
R5947:Notch1	UTSW	2	26,352,540 (GRCm39)	intron	probably benign
R6053:Notch1	UTSW	2	26,362,924 (GRCm39)	missense	probably benign	0.06
R6161:Notch1	UTSW	2	26,358,743 (GRCm39)	missense	probably damaging	1.00
R6162:Notch1	UTSW	2	26,352,207 (GRCm39)	missense	probably benign
R6174:Notch1	UTSW	2	26,375,454 (GRCm39)	missense	possibly damaging	0.50
R6199:Notch1	UTSW	2	26,359,911 (GRCm39)	missense	probably damaging	0.98
R6209:Notch1	UTSW	2	26,362,817 (GRCm39)	missense	probably damaging	1.00
R6251:Notch1	UTSW	2	26,364,182 (GRCm39)	missense	possibly damaging	0.64
R6493:Notch1	UTSW	2	26,362,110 (GRCm39)	missense	unknown
R6723:Notch1	UTSW	2	26,368,118 (GRCm39)	missense	probably damaging	1.00
R6736:Notch1	UTSW	2	26,350,298 (GRCm39)	missense	probably benign	0.01
R7020:Notch1	UTSW	2	26,371,586 (GRCm39)	missense	possibly damaging	0.95
R7058:Notch1	UTSW	2	26,353,830 (GRCm39)	missense	probably benign	0.05
R7154:Notch1	UTSW	2	26,349,950 (GRCm39)	missense	probably benign
R7291:Notch1	UTSW	2	26,366,387 (GRCm39)	missense	probably benign	0.01
R7379:Notch1	UTSW	2	26,369,479 (GRCm39)	missense	probably damaging	1.00
R7560:Notch1	UTSW	2	26,350,177 (GRCm39)	missense	probably benign	0.43
R7610:Notch1	UTSW	2	26,368,191 (GRCm39)	missense	probably benign	0.13
R7833:Notch1	UTSW	2	26,349,545 (GRCm39)	makesense	probably null
R7988:Notch1	UTSW	2	26,361,013 (GRCm39)	missense	probably benign	0.00
R8493:Notch1	UTSW	2	26,362,251 (GRCm39)	missense	unknown
R8514:Notch1	UTSW	2	26,362,181 (GRCm39)	missense	probably damaging	1.00
R8523:Notch1	UTSW	2	26,354,917 (GRCm39)	missense	possibly damaging	0.82
R8677:Notch1	UTSW	2	26,359,936 (GRCm39)	missense	probably damaging	1.00
R8696:Notch1	UTSW	2	26,368,004 (GRCm39)	critical splice acceptor site	probably benign
R8833:Notch1	UTSW	2	26,371,615 (GRCm39)	missense	probably damaging	1.00
R8964:Notch1	UTSW	2	26,371,062 (GRCm39)	missense	possibly damaging	0.65
R9091:Notch1	UTSW	2	26,369,895 (GRCm39)	missense	probably damaging	0.99
R9144:Notch1	UTSW	2	26,349,587 (GRCm39)	missense	probably benign	0.00
R9145:Notch1	UTSW	2	26,349,587 (GRCm39)	missense	probably benign	0.00
R9151:Notch1	UTSW	2	26,367,939 (GRCm39)	missense	probably benign	0.01
R9270:Notch1	UTSW	2	26,369,895 (GRCm39)	missense	probably damaging	0.99
R9463:Notch1	UTSW	2	26,359,845 (GRCm39)	missense	probably benign	0.20
R9546:Notch1	UTSW	2	26,371,127 (GRCm39)	missense	probably damaging	0.97
R9674:Notch1	UTSW	2	26,361,308 (GRCm39)	missense	probably damaging	0.98
X0018:Notch1	UTSW	2	26,352,239 (GRCm39)	nonsense	probably null
X0066:Notch1	UTSW	2	26,360,347 (GRCm39)	missense	possibly damaging	0.90
Z1088:Notch1	UTSW	2	26,367,127 (GRCm39)	missense	probably damaging	0.99
Z1177:Notch1	UTSW	2	26,350,321 (GRCm39)	missense	possibly damaging	0.74

Posted On

2015-04-16