Incidental Mutation 'R1939:Jag1'
ID 213785
Institutional Source Beutler Lab
Gene Symbol Jag1
Ensembl Gene ENSMUSG00000027276
Gene Name jagged 1
Synonyms Serrate-1, ABE2, Gsfabe2, Ozz, Headturner, Htu
MMRRC Submission 039957-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1939 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 136923371-136958440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 136925393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 1070 (V1070L)
Ref Sequence ENSEMBL: ENSMUSP00000028735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028735]
AlphaFold Q9QXX0
Predicted Effect possibly damaging
Transcript: ENSMUST00000028735
AA Change: V1070L

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028735
Gene: ENSMUSG00000027276
AA Change: V1070L

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 0.0911 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.2%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik T A 11: 83,331,130 (GRCm39) W11R probably damaging Het
2700049A03Rik A G 12: 71,207,186 (GRCm39) probably null Het
4933409G03Rik T C 2: 68,419,328 (GRCm39) S26P possibly damaging Het
Ace2 A T X: 162,939,524 (GRCm39) M123L possibly damaging Het
Acot3 A G 12: 84,105,325 (GRCm39) N264S probably benign Het
Acvr1c A T 2: 58,173,517 (GRCm39) N248K probably damaging Het
Adam22 A T 5: 8,380,015 (GRCm39) F94L probably damaging Het
Adarb2 T C 13: 8,253,358 (GRCm39) probably null Het
Aldh1b1 A G 4: 45,802,755 (GRCm39) M98V possibly damaging Het
Arfgef2 T A 2: 166,715,548 (GRCm39) V1331D probably damaging Het
Atf2 G A 2: 73,676,563 (GRCm39) P184S probably damaging Het
Atp8b3 A T 10: 80,361,220 (GRCm39) C785* probably null Het
Birc6 T C 17: 74,977,332 (GRCm39) S4362P probably damaging Het
Brd10 A G 19: 29,731,077 (GRCm39) F712S possibly damaging Het
Chn1 A G 2: 73,455,245 (GRCm39) C39R probably damaging Het
Cngb1 C A 8: 96,026,320 (GRCm39) G154W probably damaging Het
Cntnap5b A G 1: 99,895,073 (GRCm39) H115R probably benign Het
Col23a1 A G 11: 51,442,816 (GRCm39) D159G unknown Het
Coro7 T C 16: 4,446,596 (GRCm39) E843G probably benign Het
Dnase2a G T 8: 85,637,524 (GRCm39) A309S possibly damaging Het
Dync2h1 A G 9: 7,139,159 (GRCm39) probably null Het
Engase T A 11: 118,370,012 (GRCm39) N97K probably damaging Het
Fam83b A T 9: 76,400,362 (GRCm39) M247K probably damaging Het
Fer T C 17: 64,280,123 (GRCm39) S65P probably damaging Het
Fgf10 A G 13: 118,925,688 (GRCm39) R156G probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm904 T C 13: 50,798,772 (GRCm39) probably null Het
Gpat2 T A 2: 127,277,879 (GRCm39) *802K probably null Het
Hcfc2 G T 10: 82,538,284 (GRCm39) R107L probably damaging Het
Itga8 T G 2: 12,305,657 (GRCm39) D111A probably damaging Het
Lama5 T C 2: 179,832,714 (GRCm39) N1646S probably benign Het
Lgals8 T G 13: 12,474,069 (GRCm39) I10L probably benign Het
Lrp1b A G 2: 40,587,601 (GRCm39) S116P unknown Het
Mcpt1 A T 14: 56,256,546 (GRCm39) K94I possibly damaging Het
Mpnd T C 17: 56,322,920 (GRCm39) F384S probably damaging Het
Mrgprb5 A T 7: 47,818,686 (GRCm39) N16K probably benign Het
Myo15b A G 11: 115,778,529 (GRCm39) T1139A probably benign Het
Nat8f5 A C 6: 85,794,801 (GRCm39) I53R possibly damaging Het
Nav1 A T 1: 135,393,636 (GRCm39) L1034Q probably damaging Het
Nudt6 T C 3: 37,459,379 (GRCm39) Y54C probably damaging Het
Or10j3b G T 1: 173,043,499 (GRCm39) A94S probably benign Het
Or5p58 A G 7: 107,694,348 (GRCm39) V143A probably benign Het
Or6c217 A C 10: 129,737,970 (GRCm39) M203R probably damaging Het
Or8b35 A G 9: 37,904,385 (GRCm39) N199S probably benign Het
Or8c15 T A 9: 38,120,725 (GRCm39) Y72* probably null Het
Osbpl8 A T 10: 111,125,672 (GRCm39) H784L probably benign Het
Osr1 T G 12: 9,629,687 (GRCm39) S187A probably damaging Het
Pcdhgc5 A G 18: 37,955,003 (GRCm39) Y759C probably damaging Het
Pkd1l2 G T 8: 117,772,921 (GRCm39) Y1035* probably null Het
Pla2g15 A G 8: 106,889,927 (GRCm39) T400A probably damaging Het
Pms1 A C 1: 53,236,135 (GRCm39) L715R probably damaging Het
Prkd1 T C 12: 50,441,777 (GRCm39) N254S probably benign Het
Prkdc T C 16: 15,653,777 (GRCm39) V3868A possibly damaging Het
Ptprt T C 2: 161,769,560 (GRCm39) N435S probably benign Het
Purb T C 11: 6,424,943 (GRCm39) E315G unknown Het
Rap1b A T 10: 117,654,491 (GRCm39) N116K probably damaging Het
Rmc1 T C 18: 12,313,562 (GRCm39) L15P probably damaging Het
Rp1l1 A G 14: 64,267,042 (GRCm39) N876S probably benign Het
Rps6ka4 T A 19: 6,816,834 (GRCm39) I114F probably damaging Het
Semp2l1 T C 1: 32,584,627 (GRCm39) I428V probably damaging Het
Sh3bp2 A G 5: 34,708,963 (GRCm39) N19D probably damaging Het
Slc16a4 A G 3: 107,208,317 (GRCm39) M276V probably benign Het
Slc17a1 A G 13: 24,059,864 (GRCm39) T172A probably benign Het
Slc4a7 C T 14: 14,748,581 (GRCm38) A320V probably damaging Het
Slco1a6 T A 6: 142,078,956 (GRCm39) Y113F probably damaging Het
Srsf6 C T 2: 162,776,403 (GRCm39) probably benign Het
St3gal6 A T 16: 58,293,924 (GRCm39) probably null Het
Tdp2 A G 13: 25,025,260 (GRCm39) D343G probably benign Het
Tecpr2 T A 12: 110,899,603 (GRCm39) L657Q probably damaging Het
Tet2 T C 3: 133,194,399 (GRCm39) T12A possibly damaging Het
Trappc6a T A 7: 19,248,426 (GRCm39) F28I probably damaging Het
Trim32 G A 4: 65,532,303 (GRCm39) V287I probably benign Het
Trpd52l3 T C 19: 29,981,289 (GRCm39) S15P probably damaging Het
Tsnaxip1 A G 8: 106,566,670 (GRCm39) I169V probably benign Het
Ttc34 G A 4: 154,950,139 (GRCm39) A1031T possibly damaging Het
Ttll11 T A 2: 35,830,765 (GRCm39) Q18L probably null Het
Ttll8 A T 15: 88,799,689 (GRCm39) I584N probably damaging Het
Ubiad1 A G 4: 148,528,468 (GRCm39) L147P probably damaging Het
Ucp3 T C 7: 100,129,871 (GRCm39) V171A probably benign Het
Vmn1r174 T A 7: 23,453,532 (GRCm39) I66N probably damaging Het
Vmn2r13 T C 5: 109,339,852 (GRCm39) D41G possibly damaging Het
Vmn2r4 T C 3: 64,305,976 (GRCm39) D393G probably benign Het
Wipf2 C T 11: 98,783,236 (GRCm39) R221* probably null Het
Zfp976 C A 7: 42,263,105 (GRCm39) C244F unknown Het
Zmym5 A G 14: 57,036,577 (GRCm39) V190A 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
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'- TTCTCGTAATCCTTAATGGGGAC -3'
(R):5'- TGGTGCACTGAACACAGGTG -3'

Sequencing Primer
(F):5'- ACCGTGTTGGCTCCGTG -3'
(R):5'- AGGTGTCCTAAAGACCAGCTTCTG -3'
Posted On 2014-07-14