Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4651001:Jag1'

556644

Institutional Source

Beutler Lab

Gene Symbol

Jag1

Ensembl Gene

ENSMUSG00000027276

Gene Name

jagged 1

Synonyms

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4651001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137081456-137116644 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 137101697 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 193 (G193D)

Ref Sequence

ENSEMBL: ENSMUSP00000028735 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000028735
AA Change: G193D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028735
Gene: ENSMUSG00000027276
AA Change: G193D

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: 93.1%
3x: 90.7%
10x: 84.4%
20x: 70.4%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,259,895	I428L	probably benign	Het
Aass	T	C	6: 23,118,751	I131V	probably benign	Het
Alcam	T	A	16: 52,295,187	K189N	probably benign	Het
Ankrd50	C	A	3: 38,455,810	E803*	probably null	Het
Ankrd53	A	G	6: 83,765,733	D236G	probably damaging	Het
Bard1	A	G	1: 71,074,928	V298A	probably benign	Het
Cacna1d	C	T	14: 30,178,645	G361D	probably damaging	Het
Camkk1	A	G	11: 73,025,821	S82G	probably benign	Het
Ccr4	A	T	9: 114,492,193	V268E	probably benign	Het
Cdh6	G	A	15: 13,044,719	S439L	possibly damaging	Het
Ces1e	G	T	8: 93,215,083	A254E	probably benign	Het
Cfap46	T	C	7: 139,645,551	T1078A		Het
Cyp46a1	A	G	12: 108,353,108	D288G	probably benign	Het
Dnah6	T	C	6: 73,060,260	N3333S	probably benign	Het
Dzip3	A	G	16: 48,944,878	V491A	probably benign	Het
Egr1	G	T	18: 34,863,187	E341*	probably null	Het
Enpp1	G	A	10: 24,653,950	P597S	probably benign	Het
Ercc3	A	T	18: 32,240,312		probably benign	Het
Fam160a1	C	T	3: 85,683,641	A389T	probably damaging	Het
Fbn1	T	C	2: 125,363,989		probably null	Het
Fbxw11	T	C	11: 32,711,999		probably null	Het
Gbf1	A	G	19: 46,163,543	N5S	probably benign	Het
Gbp4	T	A	5: 105,118,423	H584L	probably benign	Het
Gcgr	G	T	11: 120,538,142	C402F	probably damaging	Het
Gm3550	A	T	18: 34,737,839	Q142L	unknown	Het
Grm7	T	A	6: 110,646,089	N74K	probably benign	Het
Hils1	A	G	11: 94,968,316	S146G	probably benign	Het
Hoxa10	T	G	6: 52,234,897	N13T	possibly damaging	Het
Ice1	A	T	13: 70,623,921		probably null	Het
Il22	C	A	10: 118,205,590	N69K	probably damaging	Het
Il9r	A	T	11: 32,191,798	H319Q	probably benign	Het
Itgax	A	G	7: 128,149,110	T1104A	probably benign	Het
Krt13	T	A	11: 100,120,036	D164V	probably damaging	Het
Lepr	T	C	4: 101,791,997	M865T	probably damaging	Het
Lmf2	G	A	15: 89,352,069	H576Y	possibly damaging	Het
Lrrc8c	C	T	5: 105,608,323	H655Y	probably benign	Het
Mapk6	A	T	9: 75,397,587	S183T	possibly damaging	Het
Mcrs1	A	T	15: 99,246,951	Y261N	probably damaging	Het
Mon1b	G	A	8: 113,638,622	G194D	probably benign	Het
Myo18b	C	T	5: 112,834,435	R1144Q	probably benign	Het
Myo9b	T	A	8: 71,342,812	H808Q	possibly damaging	Het
Ngdn	T	C	14: 55,016,200	I15T	probably benign	Het
Nhsl1	T	G	10: 18,408,435	S41R	probably damaging	Het
Numa1	A	T	7: 102,013,934	K2089M	probably damaging	Het
Obscn	A	G	11: 59,041,681	L4900P	probably damaging	Het
Olfm4	T	A	14: 80,021,485	L391Q	probably benign	Het
Olfr1034	T	C	2: 86,046,518	L12P	probably damaging	Het
Olfr1459	T	A	19: 13,146,627	I11F	probably benign	Het
Olfr1465	A	G	19: 13,314,192	I31T	probably benign	Het
Olfr705	A	G	7: 106,873,523	C241R	probably damaging	Het
Olfr980	A	T	9: 40,006,230	C240S	probably damaging	Het
Park2	T	A	17: 11,067,243	L41Q	probably damaging	Het
Parn	T	A	16: 13,631,567	N302Y	probably benign	Het
Pi4k2b	T	G	5: 52,748,470	S118A	possibly damaging	Het
Piwil4	C	T	9: 14,708,899	V704I	possibly damaging	Het
Pm20d2	G	A	4: 33,181,715	T296M	probably damaging	Het
Pmpcb	C	T	5: 21,746,050	A270V	probably benign	Het
Pnpt1	T	C	11: 29,156,945		probably null	Het
Rc3h1	C	A	1: 160,963,540	N931K	probably benign	Het
Rlf	A	G	4: 121,150,313	V600A	probably damaging	Het
Rnf219	T	A	14: 104,506,256	D129V	probably damaging	Het
Sall1	T	G	8: 89,031,103	Q791P	probably damaging	Het
Sema3c	T	A	5: 17,694,733	Y408N	probably benign	Het
Serpinb13	C	T	1: 106,982,844	S66L	probably damaging	Het
Tmem181a	A	T	17: 6,300,895	M319L	probably benign	Het
Trim24	T	C	6: 37,900,732		probably null	Het
Ttn	T	A	2: 76,888,934	T7234S	unknown	Het
Unc13c	T	A	9: 73,483,739	M2076L	possibly damaging	Het
Uroc1	C	T	6: 90,363,113	R667*	probably null	Het
Uvrag	A	G	7: 98,906,520	F456L	probably benign	Het
Vmn1r215	T	C	13: 23,076,360	V190A	probably damaging	Het
Vmn2r50	T	A	7: 10,037,732	T681S	probably benign	Het
Vmn2r65	T	A	7: 84,946,253	T408S	probably benign	Het
Vps33b	A	G	7: 80,290,007	D502G	probably damaging	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
IGL02650:Jag1	APN	2	137115585	missense	possibly damaging	0.95
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
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
RF016:Jag1	UTSW	2	137096256	missense	probably benign	0.01
Z1088:Jag1	UTSW	2	137085151	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GTGAGAACCTGGTACCCAAACTG -3'
(R):5'- TCCGAAAGTAGGCAAAATGGTC -3'

Sequencing Primer
(F):5'- CTGATAAGCCAACATCATTTGCAG -3'
(R):5'- TCGGAAGATGCTTATGTGACTG -3'

Posted On

2019-06-07