Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01720:Jag1'

105064

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 #

IGL01720

Quality Score

Status

Chromosome

Chromosomal Location

136923371-136958440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 136929023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 811 (G811D)

Ref Sequence

ENSEMBL: ENSMUSP00000028735 (fasta)

Gene Model

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

AlphaFold

Q9QXX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000028735
AA Change: G811D

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

SMART Domains

Protein: ENSMUSP00000028735
Gene: ENSMUSG00000027276
AA Change: G811D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133640

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	G	A	6: 85,605,076 (GRCm39)	R1773Q	probably benign	Het
Apc2	T	C	10: 80,150,333 (GRCm39)	S1796P	probably benign	Het
Asxl3	A	T	18: 22,658,382 (GRCm39)	I2131F	probably damaging	Het
Cdc42bpa	T	A	1: 179,938,847 (GRCm39)	D833E	probably damaging	Het
Cenpc1	A	G	5: 86,193,284 (GRCm39)	S202P	possibly damaging	Het
Cenpf	T	C	1: 189,414,583 (GRCm39)	E178G	probably benign	Het
Cenpf	T	C	1: 189,383,412 (GRCm39)	Y2636C	probably damaging	Het
Cfap251	A	G	5: 123,460,557 (GRCm39)	D1173G	probably benign	Het
Chkb	C	T	15: 89,312,155 (GRCm39)		probably null	Het
Cldn20	A	G	17: 3,583,375 (GRCm39)	T183A	probably benign	Het
Cpne8	C	T	15: 90,385,703 (GRCm39)	V442I	probably benign	Het
Cx3cl1	T	A	8: 95,504,701 (GRCm39)	M39K	probably damaging	Het
Dgkd	T	A	1: 87,864,487 (GRCm39)	L124Q	probably damaging	Het
Duxf4	A	C	10: 58,072,211 (GRCm39)	M1R	probably null	Het
Fam180a	T	C	6: 35,290,500 (GRCm39)	H161R	probably benign	Het
Galt	C	A	4: 41,757,463 (GRCm39)	R212S	probably damaging	Het
Gja10	T	C	4: 32,601,007 (GRCm39)	D459G	probably benign	Het
Glb1	T	C	9: 114,249,573 (GRCm39)		probably null	Het
Gm5709	A	T	3: 59,513,975 (GRCm39)		noncoding transcript	Het
Igf2r	A	G	17: 12,920,200 (GRCm39)	Y1380H	probably damaging	Het
Lrguk	T	C	6: 34,020,412 (GRCm39)	F52S	probably damaging	Het
Lrrc15	A	T	16: 30,092,138 (GRCm39)	N400K	probably benign	Het
Map3k12	A	G	15: 102,410,621 (GRCm39)		probably benign	Het
Mbnl2	C	T	14: 120,562,682 (GRCm39)	T11I	probably damaging	Het
Mettl22	T	C	16: 8,302,117 (GRCm39)		probably benign	Het
Mgat4a	G	A	1: 37,483,979 (GRCm39)	A497V	probably damaging	Het
Mrpl49	C	A	19: 6,105,187 (GRCm39)	M91I	possibly damaging	Het
Or2ag18	A	T	7: 106,405,416 (GRCm39)	D84E	probably damaging	Het
Or2q1	G	A	6: 42,794,527 (GRCm39)	V41I	probably benign	Het
Pcdhb5	T	G	18: 37,454,075 (GRCm39)	S152A	probably benign	Het
Ppp1r13b	T	C	12: 111,824,694 (GRCm39)	T102A	probably benign	Het
Pramel23	T	A	4: 143,423,410 (GRCm39)		probably benign	Het
Prodh2	A	G	7: 30,210,628 (GRCm39)	D393G	probably damaging	Het
Pyroxd1	A	G	6: 142,296,784 (GRCm39)		probably benign	Het
Rad17	A	T	13: 100,759,366 (GRCm39)	C554S	possibly damaging	Het
Rapgef5	T	C	12: 117,577,055 (GRCm39)		probably benign	Het
Setdb2	A	G	14: 59,660,885 (GRCm39)	V86A	possibly damaging	Het
Slc38a2	A	T	15: 96,589,092 (GRCm39)		probably benign	Het
Slc9c1	A	G	16: 45,376,132 (GRCm39)	Y406C	probably damaging	Het
Slit1	T	C	19: 41,622,653 (GRCm39)	D702G	probably benign	Het
Stat3	T	C	11: 100,794,484 (GRCm39)	H275R	possibly damaging	Het
Susd5	T	A	9: 113,893,052 (GRCm39)	N43K	possibly damaging	Het
Ttc3	A	T	16: 94,186,228 (GRCm39)	K124N	probably damaging	Het
Usp36	C	A	11: 118,165,828 (GRCm39)	R165L	probably damaging	Het
Vwf	G	A	6: 125,619,798 (GRCm39)	R1492Q	possibly damaging	Het
Zbed6	A	G	1: 133,585,264 (GRCm39)	V691A	possibly damaging	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
IGL01578:Jag1	APN	2	136,941,971 (GRCm39)	splice site	probably benign
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

2014-01-21