Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02402:Jag1'

291902

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 #

IGL02402

Quality Score

Status

Chromosome

Chromosomal Location

136923371-136958440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 136927858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 851 (S851N)

Ref Sequence

ENSEMBL: ENSMUSP00000028735 (fasta)

Gene Model

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

AlphaFold

Q9QXX0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028735
AA Change: S851N

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028735
Gene: ENSMUSG00000027276
AA Change: S851N

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,707,543 (GRCm39)	F568L	probably benign	Het
AW112010	T	A	19: 11,025,741 (GRCm39)		noncoding transcript	Het
Bbs4	A	T	9: 59,237,729 (GRCm39)	L205H	probably benign	Het
Bmal2	T	C	6: 146,711,266 (GRCm39)	V90A	possibly damaging	Het
C2cd2l	T	C	9: 44,227,878 (GRCm39)	K121R	probably benign	Het
Car14	A	G	3: 95,806,870 (GRCm39)	V198A	possibly damaging	Het
Cd22	G	T	7: 30,576,955 (GRCm39)	H117Q	possibly damaging	Het
Celf1	T	A	2: 90,829,068 (GRCm39)	I45N	probably damaging	Het
Cluh	T	C	11: 74,547,997 (GRCm39)	S103P	probably damaging	Het
Cyp39a1	T	A	17: 44,002,613 (GRCm39)	L276Q	probably benign	Het
Ddx27	T	G	2: 166,857,245 (GRCm39)		probably benign	Het
Defb4	A	T	8: 19,251,279 (GRCm39)	I49F	possibly damaging	Het
Dock8	C	A	19: 25,055,509 (GRCm39)	T157K	probably benign	Het
Dpp6	T	C	5: 27,839,541 (GRCm39)	V352A	probably damaging	Het
Elmo2	C	T	2: 165,139,312 (GRCm39)	E412K	probably damaging	Het
Eme1	G	A	11: 94,541,733 (GRCm39)	P30S	possibly damaging	Het
Espnl	G	T	1: 91,272,535 (GRCm39)	A632S	probably benign	Het
Gfod1	C	A	13: 43,354,211 (GRCm39)	A255S	probably benign	Het
Helz2	T	A	2: 180,872,704 (GRCm39)	K2432M	probably damaging	Het
Idua	T	C	5: 108,827,657 (GRCm39)	L157P	probably damaging	Het
Ifi207	T	A	1: 173,555,159 (GRCm39)	D848V	probably damaging	Het
Kat6b	T	A	14: 21,681,415 (GRCm39)	F571I	probably damaging	Het
Lrrc74b	G	A	16: 17,376,028 (GRCm39)		probably benign	Het
Mst1r	A	G	9: 107,794,026 (GRCm39)	K1160E	probably damaging	Het
Muc19	C	A	15: 91,778,192 (GRCm39)		noncoding transcript	Het
Nrg4	G	A	9: 55,135,198 (GRCm39)		probably benign	Het
Ociad1	T	C	5: 73,458,037 (GRCm39)	I12T	possibly damaging	Het
Or1o3	A	G	17: 37,574,111 (GRCm39)	V148A	possibly damaging	Het
Pold3	A	G	7: 99,749,618 (GRCm39)		probably benign	Het
Psmd5	T	C	2: 34,747,784 (GRCm39)	E291G	probably damaging	Het
Ptpn23	A	G	9: 110,222,781 (GRCm39)	V92A	possibly damaging	Het
Rab44	T	A	17: 29,359,490 (GRCm39)	H559Q	probably benign	Het
Rbm6	T	C	9: 107,730,051 (GRCm39)	D199G	probably damaging	Het
Rps18-ps3	C	T	8: 107,989,754 (GRCm39)		noncoding transcript	Het
Septin10	T	C	10: 59,006,758 (GRCm39)	T93A	probably benign	Het
Slmap	T	C	14: 26,184,865 (GRCm39)	T111A	probably damaging	Het
Spata25	C	T	2: 164,670,377 (GRCm39)	M1I	probably null	Het
Spink5	T	A	18: 44,100,171 (GRCm39)	C63S	probably damaging	Het
Sycp3	T	C	10: 88,302,425 (GRCm39)		probably benign	Het
Tarbp1	A	G	8: 127,177,567 (GRCm39)		probably benign	Het
Thbs2	A	T	17: 14,891,716 (GRCm39)	N940K	probably benign	Het
Tmem106b	A	T	6: 13,081,600 (GRCm39)	Q169L	possibly damaging	Het
Trpm6	G	T	19: 18,764,120 (GRCm39)	C242F	probably benign	Het
Ush2a	T	A	1: 187,999,305 (GRCm39)	M205K	probably benign	Het
Utp18	A	C	11: 93,774,617 (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
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
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

2015-04-16