Mutagenetix > Incidental Mutation

Incidental Mutation 'R5764:Jag1'

446161

Institutional Source

Beutler Lab

Gene Symbol

Jag1

Ensembl Gene

ENSMUSG00000027276

Gene Name

jagged 1

Synonyms

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

MMRRC Submission

043365-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136923371-136958440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 136931167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 655 (C655Y)

Ref Sequence

ENSEMBL: ENSMUSP00000028735 (fasta)

Gene Model

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

AlphaFold

Q9QXX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000028735
AA Change: C655Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028735
Gene: ENSMUSG00000027276
AA Change: C655Y

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

Meta Mutation Damage Score

0.9752

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (53/54)

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
Adgrb1	G	A	15: 74,413,423 (GRCm39)	V536I	possibly damaging	Het
Arap2	T	C	5: 62,800,197 (GRCm39)	T1277A	probably damaging	Het
Cep85l	A	T	10: 53,225,090 (GRCm39)	D166E	probably benign	Het
Cope	T	C	8: 70,759,231 (GRCm39)	S125P	probably damaging	Het
Dzip3	A	G	16: 48,747,724 (GRCm39)		probably benign	Het
Endou	G	A	15: 97,612,488 (GRCm39)	R253C	probably damaging	Het
Entpd1	A	T	19: 40,727,417 (GRCm39)		probably null	Het
Fhip1a	A	G	3: 85,573,172 (GRCm39)	Y926H	probably damaging	Het
Grk3	A	G	5: 113,114,776 (GRCm39)		probably null	Het
Hba-a2	T	A	11: 32,247,156 (GRCm39)		probably null	Het
Hecw1	C	T	13: 14,497,094 (GRCm39)	V305I	probably damaging	Het
Hspg2	C	A	4: 137,289,032 (GRCm39)	T3735K	probably damaging	Het
Htr4	G	A	18: 62,570,613 (GRCm39)	A223T	probably damaging	Het
Iglv1	T	C	16: 18,904,190 (GRCm39)	I7M	unknown	Het
Jmjd1c	C	T	10: 67,062,291 (GRCm39)	T1548I	probably damaging	Het
Kif5a	GGGTTGGT	GGGT	10: 127,066,898 (GRCm39)		probably null	Het
Klra6	T	A	6: 129,999,692 (GRCm39)	Q92L	possibly damaging	Het
Lrp1	T	C	10: 127,431,187 (GRCm39)	N325S	probably benign	Het
Ly75	C	T	2: 60,148,783 (GRCm39)	R1182H	probably benign	Het
Map2	T	C	1: 66,454,034 (GRCm39)	S975P	probably damaging	Het
Med13l	T	A	5: 118,866,707 (GRCm39)	L587Q	probably damaging	Het
Mpdz	A	G	4: 81,274,683 (GRCm39)	F180L	probably benign	Het
Myadm	G	A	7: 3,345,768 (GRCm39)	V177I	possibly damaging	Het
Ngly1	T	A	14: 16,260,799 (GRCm38)	M161K	probably benign	Het
Nup153	A	G	13: 46,840,803 (GRCm39)	M255T	probably damaging	Het
Pgm1	C	T	4: 99,822,043 (GRCm39)	A303V	probably damaging	Het
Pgr	A	T	9: 8,900,538 (GRCm39)	I24F	probably benign	Het
Pigq	A	T	17: 26,151,093 (GRCm39)	I412N	probably damaging	Het
Plod2	A	G	9: 92,485,074 (GRCm39)	H525R	probably damaging	Het
Polq	T	G	16: 36,837,706 (GRCm39)	M206R	probably damaging	Het
Psap	T	A	10: 60,129,186 (GRCm39)	S100T	probably benign	Het
Psme4	G	A	11: 30,722,364 (GRCm39)		probably benign	Het
Serpina1d	T	A	12: 103,732,080 (GRCm39)	M260L	probably benign	Het
Serpinf2	A	G	11: 75,328,230 (GRCm39)	L106P	possibly damaging	Het
Sumf1	C	T	6: 108,095,424 (GRCm39)		probably benign	Het
Tcp1	A	G	17: 13,135,489 (GRCm39)	T13A	probably benign	Het
Tfap2a	A	C	13: 40,881,831 (GRCm39)	I185S	possibly damaging	Het
Tlr2	A	C	3: 83,745,819 (GRCm39)	I88S	probably damaging	Het
Tmc4	A	T	7: 3,675,022 (GRCm39)	F283L	probably damaging	Het
Tox4	T	C	14: 52,523,277 (GRCm39)	V79A	probably damaging	Het
Trim10	A	T	17: 37,181,073 (GRCm39)	E101D	probably damaging	Het
Troap	T	A	15: 98,973,300 (GRCm39)	I22N	probably damaging	Het
Unc13c	C	T	9: 73,441,185 (GRCm39)		probably null	Het
Utp4	T	G	8: 107,644,248 (GRCm39)	V529G	possibly damaging	Het
Zeb2	T	C	2: 44,886,931 (GRCm39)	M664V	possibly damaging	Het
Zfp180	A	G	7: 23,800,909 (GRCm39)	Y53C	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
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
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'- GCCTGGAAAGAACCTAACTGC -3'
(R):5'- AGGCAGCTGTGACAATGAC -3'

Sequencing Primer
(F):5'- TATCATCCCCCAGTGGTGG -3'
(R):5'- CAGCTGTGACAATGACCAGGC -3'

Posted On

2016-11-21