Mutagenetix > Incidental Mutation

Incidental Mutation 'R1182:Jag1'

101633

Institutional Source

Beutler Lab

Gene Symbol

Jag1

Ensembl Gene

ENSMUSG00000027276

Gene Name

jagged 1

Synonyms

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

MMRRC Submission

039254-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1182 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136923371-136958440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136933409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 506 (I506F)

Ref Sequence

ENSEMBL: ENSMUSP00000028735 (fasta)

Gene Model

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

AlphaFold

Q9QXX0

Predicted Effect

probably benign
Transcript: ENSMUST00000028735
AA Change: I506F

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028735
Gene: ENSMUSG00000027276
AA Change: I506F

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

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.2%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	T	A	8: 84,656,451 (GRCm39)	D256E	probably damaging	Het
Adnp	G	A	2: 168,026,716 (GRCm39)	A193V	possibly damaging	Het
Atf7ip2	T	C	16: 10,059,699 (GRCm39)	L413S	possibly damaging	Het
Clip1	T	C	5: 123,785,928 (GRCm39)	N252S	probably damaging	Het
Cubn	A	T	2: 13,449,811 (GRCm39)	N904K	probably damaging	Het
Draxin	T	C	4: 148,192,394 (GRCm39)	E306G	probably damaging	Het
Gabrr1	T	A	4: 33,132,680 (GRCm39)	F9L	probably benign	Het
Hyal6	T	A	6: 24,743,416 (GRCm39)	C371S	probably damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Or52e8b	T	C	7: 104,673,285 (GRCm39)	T301A	probably damaging	Het
Or8k20	T	C	2: 86,106,612 (GRCm39)	N73S	probably damaging	Het
Plekhg6	C	G	6: 125,349,455 (GRCm39)	E381Q	probably damaging	Het
Prag1	A	G	8: 36,614,413 (GRCm39)	I1322V	possibly damaging	Het
Psmc3	T	C	2: 90,886,380 (GRCm39)	I179T	probably damaging	Het
Rasgrp3	A	G	17: 75,810,185 (GRCm39)	D295G	probably benign	Het
Sh3tc2	T	C	18: 62,101,171 (GRCm39)	V88A	probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Vmn1r232	C	A	17: 21,133,705 (GRCm39)	L298F	possibly damaging	Het
Zfp629	C	A	7: 127,209,274 (GRCm39)	C845F	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- TAGCAGACATCCTCCAGTCAGTGG -3'
(R):5'- CCTCTTAAAGGCAGGCATTCGGAAC -3'

Sequencing Primer
(F):5'- TCCAGTCAGTGGGGTGC -3'
(R):5'- TTAGCACGAGGCCATTTCAG -3'

Posted On

2014-01-15