Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01578:Jag1'

91348

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jag1

Ensembl Gene

ENSMUSG00000027276

Gene Name

jagged 1

Synonyms

Serrate-1, ABE2, Gsfabe2, Ozz, Headturner, Htu

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01578

Quality Score

Status

Chromosome

Chromosomal Location

136923371-136958440 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 136941971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028735 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028735]

AlphaFold

Q9QXX0

Predicted Effect

probably benign
Transcript: ENSMUST00000028735

SMART Domains

Protein: ENSMUSP00000028735
Gene: ENSMUSG00000027276

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:MNNL	31	109	2.8e-31	PFAM
DSL	167	229	1.85e-37	SMART
EGF	233	263	1.66e1	SMART
EGF	264	294	2.25e1	SMART
EGF_CA	296	334	4.42e-7	SMART
EGF	339	372	2.64e-5	SMART
EGF_CA	374	410	2.89e-11	SMART
EGF_CA	412	448	2.8e-9	SMART
EGF_CA	450	485	2.31e-10	SMART
EGF_CA	487	523	1.69e-12	SMART
EGF_CA	525	561	4.19e-8	SMART
EGF	577	627	2.16e-1	SMART
EGF_CA	629	665	2.56e-12	SMART
EGF_CA	667	703	6.91e-9	SMART
EGF	708	741	5.88e-3	SMART
EGF	747	780	9.62e-8	SMART
EGF_CA	782	818	3.59e-7	SMART
EGF_CA	820	856	3.81e-11	SMART
VWC	863	930	4.79e-16	SMART
transmembrane domain	1069	1091	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter a human homolog of the Drosophilia jagged receptor notch. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit extensive hemorrhaging and die prior to embryonic day 11.5, while heterozygotes exhibit defects of the eye. Heterozygotes for missense mutations have inner ear abnormalities. Other mutant mice display abnormal head movements. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap28	G	A	17: 68,165,195 (GRCm39)	T516I	probably benign	Het
Birc6	T	C	17: 74,955,192 (GRCm39)	C3486R	probably benign	Het
Camk2g	G	A	14: 20,797,922 (GRCm39)		probably benign	Het
Cplane1	A	G	15: 8,300,194 (GRCm39)	E3167G	unknown	Het
Dmxl1	T	A	18: 50,095,272 (GRCm39)	H2950Q	probably damaging	Het
Eml6	A	T	11: 29,800,870 (GRCm39)	S379T	probably benign	Het
Epb41l3	C	T	17: 69,555,704 (GRCm39)	H13Y	probably damaging	Het
Fam149a	A	T	8: 45,803,479 (GRCm39)	D337E	probably damaging	Het
Galnt14	T	A	17: 73,842,361 (GRCm39)		probably benign	Het
Gm6489	G	T	1: 31,326,416 (GRCm39)		noncoding transcript	Het
Hspg2	G	A	4: 137,266,494 (GRCm39)	R1885H	probably damaging	Het
Nalcn	A	T	14: 123,809,503 (GRCm39)	N216K	probably benign	Het
Ndst1	T	C	18: 60,846,198 (GRCm39)	Y37C	probably damaging	Het
Nr2c2	A	G	6: 92,139,019 (GRCm39)	N486S	probably benign	Het
Obscn	A	T	11: 58,890,506 (GRCm39)	L7342Q	unknown	Het
Or13l2	A	T	3: 97,318,036 (GRCm39)	C154S	probably damaging	Het
Or56b2	A	G	7: 104,338,052 (GRCm39)	I277V	probably benign	Het
Or8k20	C	A	2: 86,106,085 (GRCm39)	V249F	probably damaging	Het
Pou4f2	A	C	8: 79,162,284 (GRCm39)	D106E	probably damaging	Het
Ppic	G	A	18: 53,551,001 (GRCm39)	P10S	unknown	Het
Psd2	A	G	18: 36,112,838 (GRCm39)	T178A	probably damaging	Het
Ro60	A	T	1: 143,637,038 (GRCm39)	N391K	probably damaging	Het
Slc25a34	G	T	4: 141,349,821 (GRCm39)		probably null	Het
Stap2	A	G	17: 56,304,623 (GRCm39)	S360P	probably benign	Het
Stx3	T	C	19: 11,763,969 (GRCm39)	E129G	probably damaging	Het
Sun3	T	A	11: 8,979,436 (GRCm39)	E28D	probably damaging	Het
Tmem126a	C	T	7: 90,100,750 (GRCm39)		probably null	Het
Trpc6	A	T	9: 8,634,058 (GRCm39)	H379L	probably damaging	Het
Ttf2	A	G	3: 100,863,511 (GRCm39)	S608P	possibly damaging	Het
Tubgcp3	T	C	8: 12,711,297 (GRCm39)		probably benign	Het

Other mutations in Jag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Jag1	APN	2	136,927,952 (GRCm39)	critical splice acceptor site	probably null
IGL00912:Jag1	APN	2	136,957,493 (GRCm39)	missense	probably damaging	1.00
IGL01104:Jag1	APN	2	136,926,298 (GRCm39)	missense	probably benign	0.40
IGL01529:Jag1	APN	2	136,926,897 (GRCm39)	missense	probably damaging	0.99
IGL01720:Jag1	APN	2	136,929,023 (GRCm39)	missense	probably damaging	1.00
IGL01809:Jag1	APN	2	136,957,404 (GRCm39)	missense	probably damaging	1.00
IGL02402:Jag1	APN	2	136,927,858 (GRCm39)	missense	possibly damaging	0.79
IGL02434:Jag1	APN	2	136,929,075 (GRCm39)	missense	probably benign	0.01
IGL02543:Jag1	APN	2	136,933,867 (GRCm39)	splice site	probably benign
IGL02650:Jag1	APN	2	136,957,505 (GRCm39)	missense	possibly damaging	0.95
IGL03010:Jag1	APN	2	136,935,118 (GRCm39)	splice site	probably benign
IGL03102:Jag1	APN	2	136,926,608 (GRCm39)	missense	probably benign	0.00
Grenville	UTSW	2	136,929,062 (GRCm39)	missense	probably damaging	1.00
PIT4651001:Jag1	UTSW	2	136,943,617 (GRCm39)	missense	probably damaging	1.00
R0227:Jag1	UTSW	2	136,957,538 (GRCm39)	missense	probably benign
R0306:Jag1	UTSW	2	136,927,855 (GRCm39)	missense	probably damaging	1.00
R0325:Jag1	UTSW	2	136,937,365 (GRCm39)	critical splice donor site	probably null
R0594:Jag1	UTSW	2	136,929,000 (GRCm39)	missense	probably damaging	0.99
R0838:Jag1	UTSW	2	136,935,198 (GRCm39)	missense	probably damaging	0.98
R0879:Jag1	UTSW	2	136,942,001 (GRCm39)	missense	possibly damaging	0.80
R0900:Jag1	UTSW	2	136,932,802 (GRCm39)	frame shift	probably null
R0972:Jag1	UTSW	2	136,925,371 (GRCm39)	missense	possibly damaging	0.64
R1083:Jag1	UTSW	2	136,938,152 (GRCm39)	missense	probably damaging	0.99
R1182:Jag1	UTSW	2	136,933,409 (GRCm39)	missense	probably benign	0.36
R1292:Jag1	UTSW	2	136,925,393 (GRCm39)	missense	possibly damaging	0.79
R1464:Jag1	UTSW	2	136,957,568 (GRCm39)	missense	probably damaging	0.98
R1464:Jag1	UTSW	2	136,957,568 (GRCm39)	missense	probably damaging	0.98
R1500:Jag1	UTSW	2	136,957,558 (GRCm39)	missense	possibly damaging	0.82
R1936:Jag1	UTSW	2	136,925,393 (GRCm39)	missense	possibly damaging	0.79
R1937:Jag1	UTSW	2	136,925,393 (GRCm39)	missense	possibly damaging	0.79
R1939:Jag1	UTSW	2	136,925,393 (GRCm39)	missense	possibly damaging	0.79
R1998:Jag1	UTSW	2	136,932,858 (GRCm39)	missense	probably damaging	1.00
R2019:Jag1	UTSW	2	136,926,599 (GRCm39)	missense	probably benign	0.37
R2213:Jag1	UTSW	2	136,931,812 (GRCm39)	missense	probably benign	0.01
R2300:Jag1	UTSW	2	136,938,235 (GRCm39)	missense	probably damaging	1.00
R2484:Jag1	UTSW	2	136,926,620 (GRCm39)	missense	possibly damaging	0.86
R4179:Jag1	UTSW	2	136,943,578 (GRCm39)	missense	probably damaging	0.99
R4212:Jag1	UTSW	2	136,926,990 (GRCm39)	missense	probably benign
R4630:Jag1	UTSW	2	136,927,899 (GRCm39)	missense	probably damaging	1.00
R4701:Jag1	UTSW	2	136,936,376 (GRCm39)	missense	probably benign	0.11
R4705:Jag1	UTSW	2	136,938,229 (GRCm39)	missense	probably damaging	1.00
R4904:Jag1	UTSW	2	136,929,062 (GRCm39)	missense	probably damaging	1.00
R5050:Jag1	UTSW	2	136,927,074 (GRCm39)	missense	possibly damaging	0.71
R5288:Jag1	UTSW	2	136,937,464 (GRCm39)	missense	possibly damaging	0.75
R5367:Jag1	UTSW	2	136,927,014 (GRCm39)	missense	possibly damaging	0.90
R5385:Jag1	UTSW	2	136,937,464 (GRCm39)	missense	possibly damaging	0.75
R5386:Jag1	UTSW	2	136,937,464 (GRCm39)	missense	possibly damaging	0.75
R5430:Jag1	UTSW	2	136,943,626 (GRCm39)	missense	possibly damaging	0.94
R5472:Jag1	UTSW	2	136,926,915 (GRCm39)	missense	probably damaging	1.00
R5755:Jag1	UTSW	2	136,930,610 (GRCm39)	missense	probably damaging	1.00
R5764:Jag1	UTSW	2	136,931,167 (GRCm39)	missense	probably damaging	1.00
R5804:Jag1	UTSW	2	136,930,124 (GRCm39)	missense	probably benign	0.01
R6406:Jag1	UTSW	2	136,929,563 (GRCm39)	missense	probably damaging	1.00
R6503:Jag1	UTSW	2	136,943,549 (GRCm39)	missense	probably damaging	1.00
R6721:Jag1	UTSW	2	136,936,394 (GRCm39)	missense	probably benign	0.00
R6826:Jag1	UTSW	2	136,958,095 (GRCm39)	critical splice donor site	probably null
R7055:Jag1	UTSW	2	136,957,409 (GRCm39)	missense	probably benign	0.26
R7214:Jag1	UTSW	2	136,948,802 (GRCm39)	missense	probably benign	0.00
R7359:Jag1	UTSW	2	136,926,226 (GRCm39)	missense	probably benign
R7422:Jag1	UTSW	2	136,926,975 (GRCm39)	missense	probably benign
R7919:Jag1	UTSW	2	136,930,366 (GRCm39)	missense	probably damaging	0.97
R8071:Jag1	UTSW	2	136,943,717 (GRCm39)	missense	probably benign	0.01
R8768:Jag1	UTSW	2	136,932,708 (GRCm39)	intron	probably benign
R8768:Jag1	UTSW	2	136,943,521 (GRCm39)	missense	possibly damaging	0.89
R8898:Jag1	UTSW	2	136,935,175 (GRCm39)	missense	probably damaging	1.00
R8920:Jag1	UTSW	2	136,931,143 (GRCm39)	missense	probably benign	0.05
R9060:Jag1	UTSW	2	136,931,204 (GRCm39)	missense	probably damaging	1.00
R9120:Jag1	UTSW	2	136,930,354 (GRCm39)	missense	probably benign
R9193:Jag1	UTSW	2	136,931,764 (GRCm39)	missense	probably null	0.99
R9200:Jag1	UTSW	2	136,929,044 (GRCm39)	missense	probably benign	0.04
R9241:Jag1	UTSW	2	136,926,507 (GRCm39)	missense	probably damaging	1.00
R9326:Jag1	UTSW	2	136,931,745 (GRCm39)	missense	probably benign
R9334:Jag1	UTSW	2	136,943,593 (GRCm39)	missense	probably damaging	1.00
R9358:Jag1	UTSW	2	136,924,948 (GRCm39)	missense	probably benign	0.26
R9444:Jag1	UTSW	2	136,936,397 (GRCm39)	missense	probably damaging	1.00
R9477:Jag1	UTSW	2	136,936,409 (GRCm39)	missense	probably damaging	1.00
RF016:Jag1	UTSW	2	136,938,176 (GRCm39)	missense	probably benign	0.01
Z1088:Jag1	UTSW	2	136,927,071 (GRCm39)	missense	probably benign	0.03
Z1177:Jag1	UTSW	2	136,926,939 (GRCm39)	missense	probably benign	0.01

Posted On

2013-12-09