Incidental Mutation 'R8898:Jag1'
ID 678149
Institutional Source Beutler Lab
Gene Symbol Jag1
Ensembl Gene ENSMUSG00000027276
Gene Name jagged 1
Synonyms Serrate-1, ABE2, Gsfabe2, Ozz, Headturner, Htu
MMRRC Submission 068755-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8898 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 136923371-136958440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 136935175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 396 (F396I)
Ref Sequence ENSEMBL: ENSMUSP00000028735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028735]
AlphaFold Q9QXX0
Predicted Effect probably damaging
Transcript: ENSMUST00000028735
AA Change: F396I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028735
Gene: ENSMUSG00000027276
AA Change: F396I

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 0.8128 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (64/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,383,001 (GRCm39) L988* probably null Het
4930546C10Rik A G 18: 69,083,106 (GRCm39) F36S unknown Het
Acan C A 7: 78,750,101 (GRCm39) T1624K possibly damaging Het
Ambn T C 5: 88,613,051 (GRCm39) probably null Het
Ankrd24 T C 10: 81,478,352 (GRCm39) I437T unknown Het
Arl4d C T 11: 101,557,827 (GRCm39) R118W probably damaging Het
Atg2a A G 19: 6,306,721 (GRCm39) probably benign Het
Bcan T C 3: 87,895,695 (GRCm39) T814A probably benign Het
Brca2 T A 5: 150,492,498 (GRCm39) M3171K possibly damaging Het
Cd209a T A 8: 3,798,739 (GRCm39) S23C probably damaging Het
Chek2 A T 5: 111,011,175 (GRCm39) K324N probably benign Het
Col12a1 C T 9: 79,599,577 (GRCm39) V859I probably benign Het
Cyp7b1 C T 3: 18,150,788 (GRCm39) R317H probably benign Het
Dmxl2 A G 9: 54,308,941 (GRCm39) S1937P probably benign Het
Epb41l1 T G 2: 156,335,869 (GRCm39) V11G probably damaging Het
Ephb6 C T 6: 41,590,293 (GRCm39) A15V probably benign Het
Fat3 G A 9: 15,858,822 (GRCm39) P3798L probably benign Het
Foxd1 T A 13: 98,491,596 (GRCm39) C157S probably damaging Het
Gja10 T C 4: 32,601,058 (GRCm39) Q442R probably benign Het
Gm17019 A C 5: 15,081,798 (GRCm39) M47R possibly damaging Het
Gpr179 C A 11: 97,242,329 (GRCm39) E172* probably null Het
Grhl1 G A 12: 24,634,945 (GRCm39) probably null Het
Gtf2ird2 A T 5: 134,226,106 (GRCm39) E184V probably benign Het
Hace1 A G 10: 45,576,766 (GRCm39) I813V probably benign Het
Hk2 A T 6: 82,715,379 (GRCm39) L385Q probably damaging Het
Htt C T 5: 34,976,376 (GRCm39) T726I probably benign Het
Itga8 T C 2: 12,145,206 (GRCm39) S916G probably benign Het
Kif16b A G 2: 142,554,899 (GRCm39) M633T possibly damaging Het
Klf5 T A 14: 99,538,922 (GRCm39) F112I probably damaging Het
Lama1 A T 17: 68,128,610 (GRCm39) Q2989L Het
Lrrc28 C A 7: 67,278,042 (GRCm39) probably null Het
Map4k5 T C 12: 69,859,931 (GRCm39) T739A possibly damaging Het
Mbd3l2 A T 9: 18,355,914 (GRCm39) R80* probably null Het
Mctp2 T C 7: 71,752,904 (GRCm39) E783G probably damaging Het
Mill2 A T 7: 18,590,489 (GRCm39) M190L probably benign Het
N4bp3 T C 11: 51,535,256 (GRCm39) N311S probably benign Het
Nanos2 A T 7: 18,721,549 (GRCm39) D7V probably damaging Het
Ndufs7 T A 10: 80,089,619 (GRCm39) probably null Het
Nexn T C 3: 151,948,306 (GRCm39) N483S probably benign Het
Nlrp1b T G 11: 71,073,288 (GRCm39) E185A probably damaging Het
Nop2 C A 6: 125,114,118 (GRCm39) Q195K probably benign Het
Or4a15 A G 2: 89,192,957 (GRCm39) V272A possibly damaging Het
Or4n4 G A 14: 50,518,952 (GRCm39) P253S probably damaging Het
Pde12 G A 14: 26,390,577 (GRCm39) S44L probably benign Het
Pde1c A T 6: 56,114,371 (GRCm39) V514E probably damaging Het
Pdzph1 A T 17: 59,281,334 (GRCm39) V316D probably benign Het
Prl3c1 A T 13: 27,387,578 (GRCm39) I208F possibly damaging Het
Raver2 G A 4: 100,964,399 (GRCm39) probably null Het
Rpl13a-ps1 T A 19: 50,018,747 (GRCm39) H143L probably benign Het
Septin14 A T 5: 129,760,642 (GRCm39) I402K possibly damaging Het
Sla2 T A 2: 156,717,885 (GRCm39) Y129F possibly damaging Het
Smarca2 TGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAGCA 19: 26,608,358 (GRCm39) probably benign Het
Sorl1 A G 9: 41,911,567 (GRCm39) S1448P probably damaging Het
Spast G A 17: 74,695,273 (GRCm39) R604H probably damaging Het
Speg G A 1: 75,365,517 (GRCm39) G633S probably damaging Het
Stxbp5l ATTTT ATTTTT 16: 37,036,414 (GRCm39) probably null Het
Syt11 T C 3: 88,669,335 (GRCm39) M186V probably benign Het
Tex26 C A 5: 149,380,369 (GRCm39) N133K probably benign Het
Tnfrsf17 T C 16: 11,131,910 (GRCm39) C32R probably damaging Het
Trem1 T A 17: 48,544,374 (GRCm39) V133E probably damaging Het
Trpm7 A T 2: 126,664,661 (GRCm39) M906K possibly damaging Het
Ugt2b35 T A 5: 87,159,189 (GRCm39) I461K possibly damaging Het
Vmn2r77 T A 7: 86,444,430 (GRCm39) C28S probably damaging Het
Zfp521 C A 18: 13,979,137 (GRCm39) L425F probably damaging Het
Zfp790 C T 7: 29,522,525 (GRCm39) probably benign 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
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
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'- ATTTGCATGCAAGGTATTTCTCCC -3'
(R):5'- TCCGGTTCCTAGGTGAAGAC -3'

Sequencing Primer
(F):5'- AAGGTATTTCTCCCAGGCTCGTTAG -3'
(R):5'- CGGTTCCTAGGTGAAGACTCTTC -3'
Posted On 2021-08-02