Incidental Mutation 'R1936:Jag1'
ID 215766
Institutional Source Beutler Lab
Gene Symbol Jag1
Ensembl Gene ENSMUSG00000027276
Gene Name jagged 1
Synonyms Serrate-1, ABE2, Gsfabe2, Ozz, Headturner, Htu
MMRRC Submission 039954-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1936 (G1)
Quality Score 225
Status 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: 95.7%
  • 20x: 93.5%
Validation Efficiency 99% (98/99)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,894,061 (GRCm39) Q226R possibly damaging Het
Abca13 G A 11: 9,243,595 (GRCm39) M1819I probably benign Het
Abca4 G A 3: 121,846,572 (GRCm39) V30M probably benign Het
Ablim1 T A 19: 57,204,397 (GRCm39) probably null Het
Adgrf3 A T 5: 30,407,304 (GRCm39) N207K probably benign Het
Anapc4 T A 5: 52,997,010 (GRCm39) D94E probably damaging Het
Arfgef2 A G 2: 166,705,523 (GRCm39) N918S probably benign Het
Arhgap45 A G 10: 79,866,788 (GRCm39) N1097S probably damaging Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
AU016765 G A 17: 64,826,873 (GRCm39) noncoding transcript Het
Brd10 A G 19: 29,731,077 (GRCm39) F712S possibly damaging Het
Cacna2d2 T C 9: 107,386,455 (GRCm39) F194S probably damaging Het
Cacna2d4 A G 6: 119,247,722 (GRCm39) D341G possibly damaging Het
Cdc42bpg A G 19: 6,360,339 (GRCm39) Y175C probably damaging Het
Cep170b G T 12: 112,702,172 (GRCm39) D322Y probably damaging Het
Cflar T A 1: 58,791,784 (GRCm39) Y362* probably null Het
Chml A T 1: 175,514,825 (GRCm39) C365* probably null Het
Clrn3 A C 7: 135,115,753 (GRCm39) I199S possibly damaging Het
Crtam G C 9: 40,915,846 (GRCm39) P13A probably benign Het
Defb26 T A 2: 152,350,195 (GRCm39) K28N possibly damaging Het
Dennd1c G A 17: 57,380,889 (GRCm39) probably benign Het
Dgkz A T 2: 91,768,323 (GRCm39) M761K possibly damaging Het
Dnhd1 A T 7: 105,323,183 (GRCm39) M564L probably benign Het
Dusp15 A G 2: 152,787,341 (GRCm39) probably benign Het
Dync2h1 A G 9: 7,139,159 (GRCm39) probably null Het
Eapp A T 12: 54,720,513 (GRCm39) M234K probably benign Het
Epha8 T C 4: 136,667,554 (GRCm39) D309G probably benign Het
Gfi1b T C 2: 28,500,125 (GRCm39) K302R possibly damaging Het
Gimap3 A T 6: 48,742,683 (GRCm39) F82L probably damaging Het
Gm4862 T C 3: 138,834,253 (GRCm39) noncoding transcript Het
Gpatch1 A G 7: 34,994,947 (GRCm39) S440P probably damaging Het
Gpr152 A G 19: 4,192,531 (GRCm39) D24G probably damaging Het
Gpr6 T C 10: 40,947,477 (GRCm39) E35G probably benign Het
Hip1r T A 5: 124,134,134 (GRCm39) M270K probably damaging Het
Hk3 C T 13: 55,159,204 (GRCm39) V451I probably damaging Het
Itprid1 G T 6: 55,874,666 (GRCm39) L205F probably damaging Het
Klf16 G A 10: 80,412,739 (GRCm39) A99V probably benign Het
Lama5 T C 2: 179,832,714 (GRCm39) N1646S probably benign Het
Lvrn A T 18: 47,011,387 (GRCm39) Y448F probably benign Het
Mark3 A G 12: 111,584,799 (GRCm39) M132V probably damaging Het
Mast3 A G 8: 71,237,444 (GRCm39) Y577H probably damaging Het
Med24 A T 11: 98,609,642 (GRCm39) probably null Het
Mif G T 10: 75,695,681 (GRCm39) H41N possibly damaging Het
Myo18b T C 5: 112,908,222 (GRCm39) N2017S probably benign Het
Neurl4 C T 11: 69,797,959 (GRCm39) R740C probably damaging Het
Nlgn1 G T 3: 26,385,939 (GRCm39) probably benign Het
Or10ad1c T A 15: 98,085,462 (GRCm39) H72L probably benign Het
Or2ak6 T A 11: 58,593,172 (GRCm39) L215Q probably damaging Het
Or5t15 A G 2: 86,681,745 (GRCm39) M99T probably benign Het
Or8b12i A G 9: 20,082,477 (GRCm39) L130P probably damaging Het
Paip1 T A 13: 119,593,550 (GRCm39) M463K probably damaging Het
Parp3 T A 9: 106,351,931 (GRCm39) Y147F probably damaging Het
Pgrmc2 C A 3: 41,037,473 (GRCm39) probably benign Het
Phldb3 G A 7: 24,316,832 (GRCm39) A278T probably benign Het
Plxnb1 T C 9: 108,924,715 (GRCm39) probably null Het
Pphln1 A G 15: 93,386,868 (GRCm39) D234G possibly damaging Het
Prdm2 T C 4: 142,861,032 (GRCm39) S753G probably benign Het
Prss32 A G 17: 24,075,024 (GRCm39) R125G possibly damaging Het
Psg22 A T 7: 18,453,635 (GRCm39) N149I probably damaging Het
Psmd11 T C 11: 80,319,570 (GRCm39) L20P probably damaging Het
Recql5 T C 11: 115,788,017 (GRCm39) Y434C probably benign Het
Rexo1 A G 10: 80,386,303 (GRCm39) S252P probably benign Het
Sdr9c7 A G 10: 127,739,503 (GRCm39) K206R probably benign Het
Slc17a8 T C 10: 89,413,777 (GRCm39) M484V probably benign Het
Slc1a2 A G 2: 102,607,950 (GRCm39) N530D probably benign Het
Slc25a14 G A X: 47,740,840 (GRCm39) V210I probably benign Het
Slc25a24 A T 3: 109,043,581 (GRCm39) E79D probably damaging Het
Smchd1 T C 17: 71,770,786 (GRCm39) Y132C probably damaging Het
Sorcs1 T C 19: 50,221,082 (GRCm39) D545G probably damaging Het
Sorcs2 A G 5: 36,228,731 (GRCm39) S104P possibly damaging Het
Speg C T 1: 75,408,052 (GRCm39) T3249I possibly damaging Het
Spry4 A G 18: 38,723,142 (GRCm39) I207T possibly damaging Het
Srsf6 C T 2: 162,776,403 (GRCm39) probably benign Het
Tdrd6 A G 17: 43,937,358 (GRCm39) L1230P probably damaging Het
Tesk2 A G 4: 116,599,021 (GRCm39) Y43C probably benign Het
Tex101 A G 7: 24,367,650 (GRCm39) V234A probably benign Het
Tmem161b T A 13: 84,441,585 (GRCm39) L210Q probably damaging Het
Tmprss11f T A 5: 86,692,723 (GRCm39) Q67L probably benign Het
Tnfrsf23 A G 7: 143,222,291 (GRCm39) F174L probably benign Het
Tnrc6c A G 11: 117,646,849 (GRCm39) D1450G possibly damaging Het
Trdmt1 A G 2: 13,516,420 (GRCm39) L386P probably damaging Het
Trim25 A T 11: 88,895,576 (GRCm39) T206S probably benign Het
Trit1 T C 4: 122,948,033 (GRCm39) I451T probably benign Het
Trpc4 T A 3: 54,187,311 (GRCm39) M421K probably damaging Het
Ttc34 G A 4: 154,950,139 (GRCm39) A1031T possibly damaging Het
Ttn A C 2: 76,715,834 (GRCm39) probably benign Het
Ttn T A 2: 76,577,522 (GRCm39) D24457V probably damaging Het
Ubiad1 A G 4: 148,528,468 (GRCm39) L147P probably damaging Het
Vmn2r94 G A 17: 18,464,554 (GRCm39) R579* probably null Het
Vps72 T A 3: 95,029,851 (GRCm39) V290D probably benign Het
Wipf2 C T 11: 98,783,236 (GRCm39) R221* probably null Het
Zfp26 A G 9: 20,348,849 (GRCm39) Y572H probably benign Het
Zfp292 A G 4: 34,807,452 (GRCm39) V1864A probably benign Het
Zfp952 A T 17: 33,222,643 (GRCm39) H374L possibly damaging Het
Zfy2 C A Y: 2,121,496 (GRCm39) M132I 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
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'- TCTCGTAATCCTTAATGGGGAC -3'
(R):5'- ACCTGGTGCACTGAACACAG -3'

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