Incidental Mutation 'R0879:Jag1'
ID 81912
Institutional Source Beutler Lab
Gene Symbol Jag1
Ensembl Gene ENSMUSG00000027276
Gene Name jagged 1
Synonyms Serrate-1, ABE2, Gsfabe2, Ozz, Headturner, Htu
MMRRC Submission 039046-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0879 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 136923371-136958440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136942001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 244 (S244P)
Ref Sequence ENSEMBL: ENSMUSP00000028735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028735]
AlphaFold Q9QXX0
Predicted Effect possibly damaging
Transcript: ENSMUST00000028735
AA Change: S244P

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028735
Gene: ENSMUSG00000027276
AA Change: S244P

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0686 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.9%
  • 20x: 96.3%
Validation Efficiency 100% (41/41)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab T A 9: 63,524,892 (GRCm39) probably benign Het
Adm A G 7: 110,227,559 (GRCm39) D25G possibly damaging Het
Adprs C T 4: 126,210,410 (GRCm39) V357I probably benign Het
Akap6 G T 12: 52,927,582 (GRCm39) R164L probably damaging Het
Baz2a A G 10: 127,957,173 (GRCm39) N972S probably damaging Het
Brd2 A T 17: 34,332,420 (GRCm39) V232D probably benign Het
C6 A G 15: 4,792,818 (GRCm39) probably benign Het
Ceacam5 A C 7: 17,491,627 (GRCm39) I666L probably benign Het
Col7a1 T C 9: 108,805,159 (GRCm39) probably benign Het
Dnah17 C T 11: 117,947,661 (GRCm39) probably benign Het
Dnah7a A T 1: 53,467,019 (GRCm39) V3615E possibly damaging Het
Eml6 A G 11: 29,800,816 (GRCm39) probably null Het
Enpp2 T C 15: 54,741,326 (GRCm39) E324G probably damaging Het
Fgd4 A G 16: 16,295,313 (GRCm39) V222A probably damaging Het
Gm4076 A G 13: 85,275,326 (GRCm39) noncoding transcript Het
Gm4775 T C 14: 106,338,227 (GRCm39) noncoding transcript Het
Igsf9b T C 9: 27,245,038 (GRCm39) S1002P probably damaging Het
Klhl41 A T 2: 69,513,827 (GRCm39) probably benign Het
Ltbr A G 6: 125,290,338 (GRCm39) probably benign Het
Megf8 A G 7: 25,037,896 (GRCm39) E804G possibly damaging Het
Mybpc1 G A 10: 88,407,378 (GRCm39) probably benign Het
Npas4 T C 19: 5,036,944 (GRCm39) R407G probably benign Het
Oxnad1 T A 14: 31,821,553 (GRCm39) Y213N probably damaging Het
Pde6d A G 1: 86,473,523 (GRCm39) F91S probably benign Het
Pelp1 A G 11: 70,286,123 (GRCm39) probably benign Het
Plscr2 T C 9: 92,169,846 (GRCm39) Y99H probably damaging Het
Rft1 T C 14: 30,404,705 (GRCm39) probably benign Het
Ryr3 T C 2: 112,860,588 (GRCm39) Y30C probably benign Het
Selenbp2 A G 3: 94,606,863 (GRCm39) T108A possibly damaging Het
Stk32b A G 5: 37,616,940 (GRCm39) probably benign Het
Stra6 T C 9: 58,042,487 (GRCm39) probably null Het
Usp17le A T 7: 104,418,854 (GRCm39) L96Q probably damaging Het
Usp17le G T 7: 104,418,855 (GRCm39) L96M possibly damaging Het
Vmn1r76 A T 7: 11,664,662 (GRCm39) I184N probably benign Het
Vmn2r102 T C 17: 19,914,454 (GRCm39) V673A probably damaging Het
Wdr17 T G 8: 55,114,516 (GRCm39) I667L probably benign Het
Zfp292 T C 4: 34,811,218 (GRCm39) T609A probably benign Het
Zfp821 T C 8: 110,448,474 (GRCm39) I135T possibly damaging Het
Zfp865 A G 7: 5,034,342 (GRCm39) T776A probably benign Het
Zp2 G T 7: 119,734,757 (GRCm39) P477Q probably damaging Het
Other mutations in Jag1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AAGATGCCAGCTATGCCCATTAAGG -3'
(R):5'- GGAGGCTCACCTGAAAATACCATGC -3'

Sequencing Primer
(F):5'- CCAGCTATGCCCATTAAGGATTTTG -3'
(R):5'- ACCATGCTAGGACCATGTTG -3'
Posted On 2013-11-08