Incidental Mutation 'R7359:Jag1'
ID 571168
Institutional Source Beutler Lab
Gene Symbol Jag1
Ensembl Gene ENSMUSG00000027276
Gene Name jagged 1
Synonyms Serrate-1, ABE2, Gsfabe2, Ozz, Headturner, Htu
MMRRC Submission 045445-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7359 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 136923371-136958440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136926226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 1059 (R1059G)
Ref Sequence ENSEMBL: ENSMUSP00000028735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028735]
AlphaFold Q9QXX0
Predicted Effect probably benign
Transcript: ENSMUST00000028735
AA Change: R1059G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028735
Gene: ENSMUSG00000027276
AA Change: R1059G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 99% (87/88)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,236,348 (GRCm39) V1233A possibly damaging Het
Abcc9 G A 6: 142,617,408 (GRCm39) T552I probably damaging Het
Adgrf4 T C 17: 42,978,003 (GRCm39) I447V possibly damaging Het
Akirin2 T A 4: 34,565,944 (GRCm39) D178E probably damaging Het
Arhgap12 T C 18: 6,065,709 (GRCm39) E359G possibly damaging Het
Arhgef5 A C 6: 43,257,216 (GRCm39) T1256P probably damaging Het
Avpr1a A C 10: 122,285,283 (GRCm39) I192L possibly damaging Het
B4galnt4 A G 7: 140,651,197 (GRCm39) H926R probably damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Ccdc68 C T 18: 70,089,123 (GRCm39) A222V probably benign Het
Cdc23 T C 18: 34,774,394 (GRCm39) Y295C probably benign Het
Ceacam10 T C 7: 24,480,432 (GRCm39) Y188H unknown Het
Cfap57 T A 4: 118,456,162 (GRCm39) T511S probably benign Het
Cftr T C 6: 18,221,623 (GRCm39) V245A probably benign Het
Cit A G 5: 116,064,633 (GRCm39) D505G probably damaging Het
Cmah T G 13: 24,652,539 (GRCm39) N556K probably benign Het
Cspg4b T C 13: 113,478,964 (GRCm39) S1503P Het
D430041D05Rik C A 2: 104,044,482 (GRCm39) D839Y probably damaging Het
Dek T C 13: 47,259,065 (GRCm39) D47G unknown Het
Des C T 1: 75,337,596 (GRCm39) R179C probably damaging Het
Desi2 A G 1: 178,015,509 (GRCm39) N10D probably benign Het
Dlg5 T C 14: 24,214,615 (GRCm39) N679S probably damaging Het
Dnajc24 T C 2: 105,832,293 (GRCm39) Y30C probably damaging Het
Dock10 T A 1: 80,687,065 (GRCm39) H34L probably benign Het
Dock5 A G 14: 68,003,337 (GRCm39) V1586A probably benign Het
Dpy19l4 A G 4: 11,273,125 (GRCm39) V576A probably benign Het
Dusp6 A G 10: 99,099,927 (GRCm39) E125G probably benign Het
Dync1h1 T C 12: 110,591,036 (GRCm39) Y1035H probably benign Het
Dysf G A 6: 84,172,306 (GRCm39) probably null Het
En1 A G 1: 120,534,817 (GRCm39) K369E unknown Het
F2r A G 13: 95,741,194 (GRCm39) Y114H probably damaging Het
Fam184a T C 10: 53,575,318 (GRCm39) Y97C probably damaging Het
Fggy T C 4: 95,657,717 (GRCm39) V286A probably benign Het
Flot2 T C 11: 77,949,383 (GRCm39) I322T probably benign Het
Fndc1 A T 17: 8,032,318 (GRCm39) probably null Het
Frs3 A G 17: 48,010,450 (GRCm39) D28G probably damaging Het
Gimap3 C T 6: 48,742,280 (GRCm39) D217N probably benign Het
Gm128 A G 3: 95,147,934 (GRCm39) V120A probably benign Het
Gm17190 T C 13: 96,218,970 (GRCm39) V102A probably damaging Het
Gm17268 A G 11: 81,919,057 (GRCm39) V20A unknown Het
Grsf1 A T 5: 88,813,423 (GRCm39) probably null Het
Hmcn2 A T 2: 31,278,395 (GRCm39) Y1699F probably benign Het
Hnmt T A 2: 23,938,731 (GRCm39) M36L probably benign Het
Hoxd1 C A 2: 74,594,447 (GRCm39) T234K probably damaging Het
Hydin C G 8: 111,232,733 (GRCm39) S1679R probably damaging Het
Kbtbd11 T C 8: 15,078,858 (GRCm39) W486R probably damaging Het
Kcnh6 A G 11: 105,909,789 (GRCm39) D438G possibly damaging Het
Lgals4 T G 7: 28,540,724 (GRCm39) F276V probably benign Het
Lrp6 G T 6: 134,427,923 (GRCm39) Y1556* probably null Het
Mpdz G A 4: 81,274,632 (GRCm39) L855F probably benign Het
Muc16 A T 9: 18,554,316 (GRCm39) D3992E unknown Het
Npc1 T C 18: 12,328,237 (GRCm39) N1024S probably benign Het
Nsfl1c A G 2: 151,336,279 (GRCm39) T18A probably benign Het
Or12e8 T A 2: 87,188,555 (GRCm39) L256I possibly damaging Het
Or12k5 A T 2: 36,895,449 (GRCm39) M59K probably damaging Het
Or2g7 G A 17: 38,378,506 (GRCm39) W148* probably null Het
Or8g31-ps1 T C 9: 39,276,775 (GRCm39) *307R probably null Het
Pcdh15 A T 10: 74,420,048 (GRCm39) K1235N probably damaging Het
Pcif1 A G 2: 164,726,251 (GRCm39) K51E probably damaging Het
Pde1b G A 15: 103,429,752 (GRCm39) D82N probably damaging Het
Phf23 T A 11: 69,889,467 (GRCm39) V167E possibly damaging Het
Pik3c2g T C 6: 139,913,620 (GRCm39) V1006A unknown Het
Pira12 T A 7: 3,901,103 (GRCm39) probably benign Het
Pkhd1l1 G T 15: 44,452,882 (GRCm39) V3936F probably damaging Het
Pnpla1 T C 17: 29,100,159 (GRCm39) V342A probably benign Het
Ppip5k1 T C 2: 121,171,329 (GRCm39) D620G possibly damaging Het
Ppl A G 16: 4,907,205 (GRCm39) L1030P possibly damaging Het
Prelid1 A T 13: 55,469,088 (GRCm39) probably benign Het
Racgap1 C T 15: 99,529,081 (GRCm39) S264N probably benign Het
Rdh13 T C 7: 4,430,696 (GRCm39) D289G probably benign Het
Rtp3 T C 9: 110,815,364 (GRCm39) I334V probably benign Het
Setd2 A T 9: 110,392,012 (GRCm39) D200V Het
Simc1 A G 13: 54,651,731 (GRCm39) S15G unknown Het
Sirpb1c A T 3: 15,887,389 (GRCm39) M150K probably benign Het
Smoc1 T A 12: 81,197,475 (GRCm39) D202E probably damaging Het
Spata31d1b A G 13: 59,860,304 (GRCm39) Y59C probably damaging Het
Stard9 A G 2: 120,528,761 (GRCm39) T1673A probably damaging Het
Tbc1d31 T A 15: 57,779,504 (GRCm39) H72Q probably benign Het
Tgfbrap1 C A 1: 43,114,693 (GRCm39) V136L probably damaging Het
Top2b A G 14: 16,407,376 (GRCm38) N720S probably null Het
Vmn1r11 T C 6: 57,115,184 (GRCm39) S283P probably damaging Het
Vmn1r19 A G 6: 57,382,080 (GRCm39) H211R probably damaging Het
Vmn2r44 A T 7: 8,370,538 (GRCm39) M836K probably benign Het
Vmn2r61 A C 7: 41,915,407 (GRCm39) H118P probably benign Het
Vps33a A G 5: 123,696,696 (GRCm39) I319T probably benign Het
Vwf T A 6: 125,543,220 (GRCm39) S151T Het
Zfp423 T C 8: 88,508,871 (GRCm39) N491S possibly damaging Het
Zfp626 T C 7: 27,507,660 (GRCm39) F23S 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
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
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'- ATTTTGTGAGCCTGGGCCAG -3'
(R):5'- GTGAGTAGAAGACCATTTCACTCC -3'

Sequencing Primer
(F):5'- CAGGAGGCTGGAAGTGAGG -3'
(R):5'- GCAAGTATCAGACAACAATTGCAATG -3'
Posted On 2019-09-13