Mutagenetix > Incidental Mutation

Incidental Mutation 'R0325:Jag1'

65056

Institutional Source

Beutler Lab

Gene Symbol

Jag1

Ensembl Gene

ENSMUSG00000027276

Gene Name

jagged 1

Synonyms

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

MMRRC Submission

038535-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0325 (G1)

Quality Score

152

Status

Not validated

Chromosome

Chromosomal Location

136923371-136958440 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 136937365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028735 (fasta)

Gene Model

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

AlphaFold

Q9QXX0

Predicted Effect

probably null
Transcript: ENSMUST00000028735

SMART Domains

Protein: ENSMUSP00000028735
Gene: ENSMUSG00000027276

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: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.0%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	C	4: 144,282,081 (GRCm39)	Y237C	probably damaging	Het
Adcyap1	A	G	17: 93,510,260 (GRCm39)	D96G	probably benign	Het
Adgrv1	C	T	13: 81,688,134 (GRCm39)	V1749M	probably damaging	Het
Adnp2	A	T	18: 80,173,868 (GRCm39)	N180K	probably benign	Het
Ahdc1	G	T	4: 132,790,030 (GRCm39)	A424S	unknown	Het
Alpk3	G	A	7: 80,717,701 (GRCm39)	R86H	possibly damaging	Het
Atf7ip	A	C	6: 136,537,987 (GRCm39)	T49P	possibly damaging	Het
Atp7b	G	A	8: 22,518,467 (GRCm39)	L124F	probably benign	Het
Bub1	A	T	2: 127,643,314 (GRCm39)	L1010*	probably null	Het
Cd300c	C	A	11: 114,850,411 (GRCm39)	E131*	probably null	Het
Cep135	A	G	5: 76,763,590 (GRCm39)	K527E	probably damaging	Het
Cfd	G	T	10: 79,727,592 (GRCm39)	E89*	probably null	Het
Crb1	A	C	1: 139,168,904 (GRCm39)	C871W	probably damaging	Het
D6Ertd527e	A	T	6: 87,088,277 (GRCm39)	S147C	unknown	Het
Ddx60	A	T	8: 62,436,889 (GRCm39)	E946D	probably benign	Het
Dmrt1	G	A	19: 25,523,371 (GRCm39)	E241K	probably benign	Het
Dnah11	C	G	12: 117,976,074 (GRCm39)	V2782L	probably benign	Het
Dzip1	T	C	14: 119,146,969 (GRCm39)	I313M	probably damaging	Het
Egln3	T	C	12: 54,250,298 (GRCm39)	E17G	probably benign	Het
Eif3d	A	G	15: 77,852,420 (GRCm39)	V42A	probably damaging	Het
Elapor1	A	G	3: 108,368,567 (GRCm39)	L808P	probably damaging	Het
Eogt	C	A	6: 97,090,916 (GRCm39)	G408W	probably damaging	Het
Fip1l1	T	A	5: 74,756,503 (GRCm39)	N498K	probably damaging	Het
Fmn2	T	A	1: 174,437,520 (GRCm39)		probably null	Het
Fndc3b	T	C	3: 27,521,579 (GRCm39)	E532G	probably damaging	Het
Gabrb3	T	C	7: 57,415,278 (GRCm39)	L116P	probably damaging	Het
Galnt6	A	T	15: 100,591,352 (GRCm39)		probably null	Het
Glmp	G	A	3: 88,232,391 (GRCm39)	M1I	probably null	Het
Gm5478	T	C	15: 101,552,761 (GRCm39)	D79G	probably damaging	Het
Gnb1	T	G	4: 155,636,140 (GRCm39)	D153E	probably benign	Het
Grik2	T	C	10: 49,116,821 (GRCm39)	I86V	probably damaging	Het
Hdac3	C	T	18: 38,074,005 (GRCm39)		probably null	Het
Hdgfl2	G	A	17: 56,406,181 (GRCm39)	R523H	possibly damaging	Het
Ifngr1	T	A	10: 19,473,180 (GRCm39)	N43K	probably damaging	Het
Iqgap1	A	G	7: 80,401,678 (GRCm39)	W476R	probably benign	Het
Kars1	T	C	8: 112,734,848 (GRCm39)	D46G	probably benign	Het
Kcnd2	A	G	6: 21,216,682 (GRCm39)	I129V	probably damaging	Het
Lama3	A	C	18: 12,615,183 (GRCm39)	D1369A	probably damaging	Het
Lars1	A	T	18: 42,383,967 (GRCm39)	V76E	possibly damaging	Het
Lgals9	T	C	11: 78,854,274 (GRCm39)	I337V	probably damaging	Het
Lrp1b	T	C	2: 40,741,723 (GRCm39)	D3068G	probably damaging	Het
Med12l	A	G	3: 58,984,480 (GRCm39)	T462A	possibly damaging	Het
Megf9	T	A	4: 70,374,178 (GRCm39)	D286V	probably damaging	Het
Meox1	T	A	11: 101,770,227 (GRCm39)	S167C	probably damaging	Het
Mier2	C	T	10: 79,378,430 (GRCm39)		probably null	Het
Mrps2	C	A	2: 28,359,791 (GRCm39)	T216K	probably damaging	Het
Mto1	A	T	9: 78,360,286 (GRCm39)	D258V	probably damaging	Het
Mug1	A	T	6: 121,826,801 (GRCm39)	H208L	probably benign	Het
Myo15b	T	A	11: 115,775,091 (GRCm39)	I751N	probably damaging	Het
Napg	C	T	18: 63,120,034 (GRCm39)	R149C	probably damaging	Het
Ndrg4	T	A	8: 96,437,563 (GRCm39)	M17K	probably damaging	Het
Nfrkb	T	G	9: 31,325,476 (GRCm39)	M973R	probably benign	Het
Nxph4	C	T	10: 127,362,780 (GRCm39)	R37H	probably damaging	Het
Oas1e	A	G	5: 120,933,460 (GRCm39)	I35T	probably damaging	Het
Oc90	C	T	15: 65,769,514 (GRCm39)		probably null	Het
Or4b12	A	T	2: 90,095,880 (GRCm39)	M298K	probably null	Het
Or52d3	A	T	7: 104,229,567 (GRCm39)	D238V	probably damaging	Het
Or8j3	G	A	2: 86,029,055 (GRCm39)	L14F	possibly damaging	Het
Or8k30	A	T	2: 86,339,549 (GRCm39)	T249S	probably benign	Het
Or9a7	A	T	6: 40,521,057 (GRCm39)	N285K	possibly damaging	Het
Papola	T	A	12: 105,773,452 (GRCm39)	I157N	probably damaging	Het
Pcyox1l	G	C	18: 61,830,964 (GRCm39)	P303A	possibly damaging	Het
Pkdrej	T	C	15: 85,703,752 (GRCm39)	N728S	probably benign	Het
Pkp4	A	G	2: 59,148,873 (GRCm39)	D542G	probably damaging	Het
Pla2g5	C	T	4: 138,527,967 (GRCm39)	D100N	probably benign	Het
Poln	C	T	5: 34,307,108 (GRCm39)	R31H	probably benign	Het
Ppp3ca	G	A	3: 136,640,900 (GRCm39)	A484T	probably benign	Het
Prag1	A	G	8: 36,570,958 (GRCm39)	T514A	probably benign	Het
Pramel28	A	T	4: 143,693,310 (GRCm39)	V56E	probably damaging	Het
Prex2	G	A	1: 11,270,281 (GRCm39)		probably null	Het
Prrc2b	G	T	2: 32,089,103 (GRCm39)	W403L	probably damaging	Het
Pter	A	T	2: 13,005,748 (GRCm39)	K307M	probably damaging	Het
Ptpn5	G	A	7: 46,740,506 (GRCm39)	S99L	probably benign	Het
Ptpn5	A	C	7: 46,740,507 (GRCm39)	S99A	probably benign	Het
Rpap1	A	C	2: 119,602,321 (GRCm39)	H674Q	probably benign	Het
Rph3a	A	T	5: 121,081,127 (GRCm39)	D623E	probably benign	Het
Sdr9c7	G	T	10: 127,734,588 (GRCm39)	E25D	probably benign	Het
Septin9	T	G	11: 117,247,458 (GRCm39)	V479G	probably damaging	Het
Sgo2a	A	G	1: 58,055,856 (GRCm39)	D680G	probably benign	Het
Sgo2b	A	T	8: 64,381,410 (GRCm39)	I474N	probably benign	Het
Sgsm1	A	T	5: 113,436,701 (GRCm39)	I43N	probably damaging	Het
Shprh	G	A	10: 11,045,853 (GRCm39)	M891I	probably benign	Het
Skic2	A	T	17: 35,063,791 (GRCm39)	Y551N	possibly damaging	Het
Slc12a9	A	G	5: 137,321,108 (GRCm39)	M469T	probably damaging	Het
Slc4a2	A	T	5: 24,640,941 (GRCm39)	I747F	probably damaging	Het
Slc7a6	T	A	8: 106,921,149 (GRCm39)	N373K	probably damaging	Het
Slc7a6os	T	C	8: 106,927,688 (GRCm39)	D296G	probably benign	Het
Sncaip	A	G	18: 53,038,881 (GRCm39)	T120A	probably damaging	Het
Sorcs1	G	C	19: 50,301,480 (GRCm39)		probably null	Het
Spata16	A	G	3: 26,721,605 (GRCm39)	E42G	probably damaging	Het
Spata31e2	G	T	1: 26,724,347 (GRCm39)	Q278K	possibly damaging	Het
Syne2	A	T	12: 76,009,415 (GRCm39)	M2440L	probably benign	Het
Taf7l2	T	C	10: 115,949,474 (GRCm39)	I17M	probably damaging	Het
Tead2	A	G	7: 44,875,179 (GRCm39)	E232G	probably damaging	Het
Tmf1	T	G	6: 97,153,465 (GRCm39)	T203P	possibly damaging	Het
Trrap	C	A	5: 144,753,205 (GRCm39)	H1843Q	probably benign	Het
Unc79	C	A	12: 103,137,903 (GRCm39)	Q2314K	probably damaging	Het
Unc80	G	T	1: 66,550,040 (GRCm39)	G766V	probably damaging	Het
Vmn1r217	A	G	13: 23,298,764 (GRCm39)	L46P	probably damaging	Het
Vmn2r80	A	T	10: 78,984,773 (GRCm39)	I42F	possibly damaging	Het
Vwa5a	T	C	9: 38,639,961 (GRCm39)	V403A	probably damaging	Het
Zfp42	T	C	8: 43,748,988 (GRCm39)	E171G	probably damaging	Het
Zfp64	A	T	2: 168,767,960 (GRCm39)	S551T	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCACCTGTGACCTTAAGCTACCAC -3'
(R):5'- TGGCCTAGAACTGGGATCAATTAGGAG -3'

Sequencing Primer
(F):5'- tcactcctccccccaaatc -3'
(R):5'- ACTGGGATCAATTAGGAGTTTTTTTC -3'

Posted On

2013-08-08