Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02650:Jag1'

302109

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jag1

Ensembl Gene

ENSMUSG00000027276

Gene Name

jagged 1

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02650

Quality Score

Status

Chromosome

Chromosomal Location

137081456-137116644 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137115585 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 69 (D69G)

Ref Sequence

ENSEMBL: ENSMUSP00000028735 (fasta)

Gene Model

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

AlphaFold

Q9QXX0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028735
AA Change: D69G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028735
Gene: ENSMUSG00000027276
AA Change: D69G

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,741,537	T586A	probably benign	Het
Acads	G	T	5: 115,112,815	T141N	probably benign	Het
Ankmy1	C	T	1: 92,881,023	R721H	probably damaging	Het
Appl1	A	G	14: 26,950,708	V236A	possibly damaging	Het
Arhgef5	C	T	6: 43,272,935	Q207*	probably null	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Atp6v0a2	G	T	5: 124,712,362		probably benign	Het
Cenpf	T	C	1: 189,652,473	K2537E	possibly damaging	Het
Cox7a1	A	T	7: 30,185,137	E32V	possibly damaging	Het
Dis3	A	T	14: 99,098,785	M95K	probably benign	Het
Dnah5	A	T	15: 28,289,047		probably benign	Het
Dock10	T	A	1: 80,574,123	Y665F	probably damaging	Het
Ghsr	A	T	3: 27,374,855	Q343L	probably benign	Het
Gm3252	T	A	14: 4,746,353	V215E	probably damaging	Het
Gm9979	A	G	13: 40,705,749		noncoding transcript	Het
Grik2	A	T	10: 49,101,235	M867K	probably benign	Het
Grm7	A	G	6: 111,358,958	T777A	probably damaging	Het
Hc	T	A	2: 35,000,874	Q1310L	possibly damaging	Het
Ifi44	A	G	3: 151,745,855	F205L	probably damaging	Het
Igkv4-86	T	C	6: 68,910,633	I40V	probably benign	Het
Lrch1	T	C	14: 74,813,698	D333G	probably damaging	Het
Mapre3	T	A	5: 30,864,709	I187N	probably damaging	Het
Myo15b	T	C	11: 115,886,511		probably null	Het
Nanos2	C	T	7: 18,987,869	P89S	probably damaging	Het
Olfr1214	T	A	2: 88,988,080	M41L	probably benign	Het
Parp16	G	A	9: 65,233,816	V223I	probably damaging	Het
Rnf123	A	G	9: 108,069,748	M231T	probably benign	Het
Suco	C	A	1: 161,848,753		probably benign	Het
Synj1	G	T	16: 90,976,696	T459N	probably benign	Het
Taf4b	C	T	18: 14,841,983	Q732*	probably null	Het
Tas2r102	A	G	6: 132,762,210	N27S	probably null	Het
Tctex1d1	C	A	4: 102,988,606	Q12K	probably benign	Het
Tll1	C	T	8: 64,046,997		probably benign	Het
Vmn1r168	A	G	7: 23,541,491	I258V	probably benign	Het
Vmn2r71	T	A	7: 85,624,327	M783K	probably damaging	Het
Vmn2r98	G	A	17: 19,080,961	V742I	probably benign	Het

Other mutations in Jag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Jag1	APN	2	137086032	critical splice acceptor site	probably null
IGL00912:Jag1	APN	2	137115573	missense	probably damaging	1.00
IGL01104:Jag1	APN	2	137084378	missense	probably benign	0.40
IGL01529:Jag1	APN	2	137084977	missense	probably damaging	0.99
IGL01578:Jag1	APN	2	137100051	splice site	probably benign
IGL01720:Jag1	APN	2	137087103	missense	probably damaging	1.00
IGL01809:Jag1	APN	2	137115484	missense	probably damaging	1.00
IGL02402:Jag1	APN	2	137085938	missense	possibly damaging	0.79
IGL02434:Jag1	APN	2	137087155	missense	probably benign	0.01
IGL02543:Jag1	APN	2	137091947	splice site	probably benign
IGL03010:Jag1	APN	2	137093198	splice site	probably benign
IGL03102:Jag1	APN	2	137084688	missense	probably benign	0.00
Grenville	UTSW	2	137087142	missense	probably damaging	1.00
PIT4651001:Jag1	UTSW	2	137101697	missense	probably damaging	1.00
R0227:Jag1	UTSW	2	137115618	missense	probably benign
R0306:Jag1	UTSW	2	137085935	missense	probably damaging	1.00
R0325:Jag1	UTSW	2	137095445	critical splice donor site	probably null
R0594:Jag1	UTSW	2	137087080	missense	probably damaging	0.99
R0838:Jag1	UTSW	2	137093278	missense	probably damaging	0.98
R0879:Jag1	UTSW	2	137100081	missense	possibly damaging	0.80
R0900:Jag1	UTSW	2	137090882	frame shift	probably null
R0972:Jag1	UTSW	2	137083451	missense	possibly damaging	0.64
R1083:Jag1	UTSW	2	137096232	missense	probably damaging	0.99
R1182:Jag1	UTSW	2	137091489	missense	probably benign	0.36
R1292:Jag1	UTSW	2	137083473	missense	possibly damaging	0.79
R1464:Jag1	UTSW	2	137115648	missense	probably damaging	0.98
R1464:Jag1	UTSW	2	137115648	missense	probably damaging	0.98
R1500:Jag1	UTSW	2	137115638	missense	possibly damaging	0.82
R1936:Jag1	UTSW	2	137083473	missense	possibly damaging	0.79
R1937:Jag1	UTSW	2	137083473	missense	possibly damaging	0.79
R1939:Jag1	UTSW	2	137083473	missense	possibly damaging	0.79
R1998:Jag1	UTSW	2	137090938	missense	probably damaging	1.00
R2019:Jag1	UTSW	2	137084679	missense	probably benign	0.37
R2213:Jag1	UTSW	2	137089892	missense	probably benign	0.01
R2300:Jag1	UTSW	2	137096315	missense	probably damaging	1.00
R2484:Jag1	UTSW	2	137084700	missense	possibly damaging	0.86
R4179:Jag1	UTSW	2	137101658	missense	probably damaging	0.99
R4212:Jag1	UTSW	2	137085070	missense	probably benign
R4630:Jag1	UTSW	2	137085979	missense	probably damaging	1.00
R4701:Jag1	UTSW	2	137094456	missense	probably benign	0.11
R4705:Jag1	UTSW	2	137096309	missense	probably damaging	1.00
R4904:Jag1	UTSW	2	137087142	missense	probably damaging	1.00
R5050:Jag1	UTSW	2	137085154	missense	possibly damaging	0.71
R5288:Jag1	UTSW	2	137095544	missense	possibly damaging	0.75
R5367:Jag1	UTSW	2	137085094	missense	possibly damaging	0.90
R5385:Jag1	UTSW	2	137095544	missense	possibly damaging	0.75
R5386:Jag1	UTSW	2	137095544	missense	possibly damaging	0.75
R5430:Jag1	UTSW	2	137101706	missense	possibly damaging	0.94
R5472:Jag1	UTSW	2	137084995	missense	probably damaging	1.00
R5755:Jag1	UTSW	2	137088690	missense	probably damaging	1.00
R5764:Jag1	UTSW	2	137089247	missense	probably damaging	1.00
R5804:Jag1	UTSW	2	137088204	missense	probably benign	0.01
R6406:Jag1	UTSW	2	137087643	missense	probably damaging	1.00
R6503:Jag1	UTSW	2	137101629	missense	probably damaging	1.00
R6721:Jag1	UTSW	2	137094474	missense	probably benign	0.00
R6826:Jag1	UTSW	2	137116175	critical splice donor site	probably null
R7055:Jag1	UTSW	2	137115489	missense	probably benign	0.26
R7214:Jag1	UTSW	2	137106882	missense	probably benign	0.00
R7359:Jag1	UTSW	2	137084306	missense	probably benign
R7422:Jag1	UTSW	2	137085055	missense	probably benign
R7919:Jag1	UTSW	2	137088446	missense	probably damaging	0.97
R8071:Jag1	UTSW	2	137101797	missense	probably benign	0.01
R8768:Jag1	UTSW	2	137101601	missense	possibly damaging	0.89
R8768:Jag1	UTSW	2	137090788	intron	probably benign
R8898:Jag1	UTSW	2	137093255	missense	probably damaging	1.00
R8920:Jag1	UTSW	2	137089223	missense	probably benign	0.05
R9060:Jag1	UTSW	2	137089284	missense	probably damaging	1.00
R9120:Jag1	UTSW	2	137088434	missense	probably benign
R9193:Jag1	UTSW	2	137089844	missense	probably null	0.99
R9200:Jag1	UTSW	2	137087124	missense	probably benign	0.04
R9241:Jag1	UTSW	2	137084587	missense	probably damaging	1.00
R9326:Jag1	UTSW	2	137089825	missense	probably benign
R9334:Jag1	UTSW	2	137101673	missense	probably damaging	1.00
R9358:Jag1	UTSW	2	137083028	missense	probably benign	0.26
R9444:Jag1	UTSW	2	137094477	missense	probably damaging	1.00
R9477:Jag1	UTSW	2	137094489	missense	probably damaging	1.00
RF016:Jag1	UTSW	2	137096256	missense	probably benign	0.01
Z1088:Jag1	UTSW	2	137085151	missense	probably benign	0.03
Z1177:Jag1	UTSW	2	137085019	missense	probably benign	0.01

Posted On

2015-04-16