Incidental Mutation 'R4630:Jag1'
ID 349095
Institutional Source Beutler Lab
Gene Symbol Jag1
Ensembl Gene ENSMUSG00000027276
Gene Name jagged 1
Synonyms Serrate-1, ABE2, Gsfabe2, Ozz, Headturner, Htu
MMRRC Submission 041895-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4630 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 136923371-136958440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 136927899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 837 (D837E)
Ref Sequence ENSEMBL: ENSMUSP00000028735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028735]
AlphaFold Q9QXX0
Predicted Effect probably damaging
Transcript: ENSMUST00000028735
AA Change: D837E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028735
Gene: ENSMUSG00000027276
AA Change: D837E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133640
Meta Mutation Damage Score 0.4572 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (74/76)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik A T 13: 119,624,622 (GRCm39) probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
BC024139 T G 15: 76,009,294 (GRCm39) Q240P probably benign Het
Bckdha A T 7: 25,330,884 (GRCm39) I44N probably damaging Het
Brpf1 T C 6: 113,286,867 (GRCm39) Y32H probably damaging Het
Catip A G 1: 74,408,072 (GRCm39) probably benign Het
Ccdc138 T C 10: 58,409,477 (GRCm39) L602P probably damaging Het
Cilp A T 9: 65,187,162 (GRCm39) T1086S probably benign Het
Comp A T 8: 70,827,032 (GRCm39) I58F possibly damaging Het
Crygs T C 16: 22,624,268 (GRCm39) E113G possibly damaging Het
Dnmt3b C T 2: 153,512,235 (GRCm39) R319* probably null Het
Eif3a A G 19: 60,758,366 (GRCm39) I804T unknown Het
Eif3a A T 19: 60,766,424 (GRCm39) H301Q probably benign Het
Elf3 A T 1: 135,184,478 (GRCm39) probably benign Het
Fads2b C A 2: 85,348,990 (GRCm39) G41* probably null Het
Gm10384 A G 15: 36,872,017 (GRCm39) noncoding transcript Het
Gm11627 T A 11: 102,469,657 (GRCm39) probably benign Het
Gpr183 A T 14: 122,192,261 (GRCm39) Y87N probably damaging Het
Gpr183 G C 14: 122,192,262 (GRCm39) Y86* probably null Het
Gpr26 T C 7: 131,568,709 (GRCm39) V18A probably damaging Het
Herc1 T A 9: 66,340,996 (GRCm39) probably null Het
Hint2 C T 4: 43,656,396 (GRCm39) probably benign Het
Jmjd1c C A 10: 66,993,753 (GRCm39) S78* probably null Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lalba T C 15: 98,380,549 (GRCm39) M2V probably benign Het
Lama1 T A 17: 68,101,295 (GRCm39) D1929E probably benign Het
Macf1 T C 4: 123,367,432 (GRCm39) K878R possibly damaging Het
Mboat4 T C 8: 34,591,108 (GRCm39) S182P probably damaging Het
Muc5b A T 7: 141,411,721 (GRCm39) T1556S unknown Het
Myo1g T C 11: 6,469,047 (GRCm39) Y85C probably damaging Het
Ncapd2 C A 6: 125,156,196 (GRCm39) probably null Het
Nox3 T C 17: 3,744,257 (GRCm39) D96G possibly damaging Het
Or10a48 T C 7: 108,424,802 (GRCm39) M135V probably damaging Het
Or1e17 T C 11: 73,831,822 (GRCm39) L250P probably damaging Het
Or6c212 A G 10: 129,559,350 (GRCm39) L21P probably damaging Het
Pacs1 C T 19: 5,206,384 (GRCm39) probably null Het
Pgap4 C G 4: 49,586,254 (GRCm39) V305L probably benign Het
Pgm5 C A 19: 24,812,110 (GRCm39) G141* probably null Het
Pik3r4 A G 9: 105,532,098 (GRCm39) M557V probably benign Het
Pld4 T A 12: 112,731,498 (GRCm39) V217D probably damaging Het
Pphln1-ps1 T C 16: 13,495,278 (GRCm39) S126P probably damaging Het
Ppp1r3c T C 19: 36,710,915 (GRCm39) E285G probably benign Het
Pradc1 T A 6: 85,424,275 (GRCm39) M24L possibly damaging Het
Prepl T C 17: 85,390,659 (GRCm39) T100A probably benign Het
Rmi2 C T 16: 10,704,073 (GRCm39) T138I probably benign Het
Rtkn A T 6: 83,129,163 (GRCm39) K540* probably null Het
Sag C A 1: 87,762,340 (GRCm39) T335K probably damaging Het
Setd4 A G 16: 93,388,114 (GRCm39) L124P probably benign Het
Sh3gl2 A G 4: 85,297,646 (GRCm39) D208G probably damaging Het
Sult4a1 T C 15: 83,989,779 (GRCm39) T8A possibly damaging Het
Tert A G 13: 73,797,110 (GRCm39) D1116G probably damaging Het
Tlr4 A G 4: 66,757,477 (GRCm39) E90G probably benign Het
Tmem123 T C 9: 7,791,393 (GRCm39) L164P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trak1 G A 9: 121,283,491 (GRCm39) R419Q probably benign Het
Trp53bp1 G T 2: 121,038,368 (GRCm39) A1490D probably damaging Het
Ttc16 T C 2: 32,665,389 (GRCm39) probably benign Het
Tyw5 T A 1: 57,427,686 (GRCm39) Q306L probably damaging Het
Ube2j2 T A 4: 156,039,715 (GRCm39) I14N probably damaging Het
Vmn2r103 T C 17: 20,013,958 (GRCm39) I250T probably benign Het
Zar1 A G 5: 72,738,249 (GRCm39) V51A probably benign Het
Zbtb38 T G 9: 96,570,904 (GRCm39) N60T probably damaging Het
Zfp354a T C 11: 50,961,045 (GRCm39) S417P probably damaging Het
Zfp410 A T 12: 84,372,510 (GRCm39) D112V probably damaging Het
Zfp518a C T 19: 40,901,423 (GRCm39) Q451* probably null Het
Zfp64 T C 2: 168,768,463 (GRCm39) N383S possibly damaging Het
Zfp687 A T 3: 94,919,799 (GRCm39) probably null 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
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
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'- CATAGGTACCACCCTGCTTTG -3'
(R):5'- TGCTCCCTTTGCAGAGGTTC -3'

Sequencing Primer
(F):5'- GTTCCCTTCCCCGTTGAG -3'
(R):5'- GCAGAGGTTCTCAGATTTAGGAATC -3'
Posted On 2015-10-08