Incidental Mutation 'IGL03102:Jag1'
ID418767
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jag1
Ensembl Gene ENSMUSG00000027276
Gene Namejagged 1
SynonymsABE2, Gsfabe2, Serrate-1, Htu, Ozz, Headturner
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03102
Quality Score
Status
Chromosome2
Chromosomal Location137081456-137116644 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 137084688 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 979 (I979V)
Ref Sequence ENSEMBL: ENSMUSP00000028735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028735]
Predicted Effect probably benign
Transcript: ENSMUST00000028735
AA Change: I979V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028735
Gene: ENSMUSG00000027276
AA Change: I979V

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
Coding Region Coverage
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130019O22Rik T C 7: 127,384,779 T384A probably benign Het
Alpk3 T C 7: 81,095,056 probably null Het
Alyref G A 11: 120,597,765 P79L possibly damaging Het
Arhgap28 T C 17: 67,896,236 D74G probably damaging Het
Arhgap8 G T 15: 84,766,307 probably benign Het
Atp1a4 T A 1: 172,231,151 D909V probably damaging Het
Cdc5l A T 17: 45,407,931 D586E probably damaging Het
Chd3 G T 11: 69,361,196 Y79* probably null Het
Cnot3 C A 7: 3,656,156 S467* probably null Het
Col18a1 A T 10: 77,067,623 probably benign Het
Col19a1 C A 1: 24,328,053 G483C probably damaging Het
Col5a3 A C 9: 20,804,635 probably null Het
Dctn5 A T 7: 122,133,159 N9I probably benign Het
Emc10 T A 7: 44,491,989 N225I probably damaging Het
Fam213b T C 4: 154,896,601 probably benign Het
Fam219b A G 9: 57,540,698 Y158C probably damaging Het
Fras1 T C 5: 96,726,535 V2273A probably benign Het
Frem3 T A 8: 80,613,032 H651Q possibly damaging Het
Gm13023 T C 4: 143,793,546 V120A possibly damaging Het
Gm4076 T A 13: 85,127,319 noncoding transcript Het
Gpr35 A T 1: 92,982,577 T4S probably benign Het
Ifnab T G 4: 88,690,825 T135P possibly damaging Het
Kank1 G T 19: 25,425,918 M1097I probably damaging Het
Kcnq3 A G 15: 66,028,788 V206A probably damaging Het
Kel T C 6: 41,702,983 K91R probably benign Het
Kirrel G T 3: 87,083,500 R672S probably damaging Het
Kmt2d A G 15: 98,855,543 M143T probably benign Het
Kpna1 A G 16: 36,012,919 I122V probably damaging Het
Lrpap1 A G 5: 35,093,350 S353P probably damaging Het
Mtfr1l T A 4: 134,532,232 Q11L probably damaging Het
Muc5b G A 7: 141,863,069 V3251M probably benign Het
Mup8 C T 4: 60,219,746 D174N probably benign Het
Nup155 A T 15: 8,147,284 E1015D probably benign Het
Olfr1338 C A 4: 118,753,934 L201F probably benign Het
Olfr1499 T C 19: 13,815,371 Y73C probably damaging Het
P2rx7 T C 5: 122,663,605 F188L possibly damaging Het
Pacrg A G 17: 10,839,832 F13L probably benign Het
Palb2 A T 7: 122,124,499 S676T possibly damaging Het
Pdia6 T A 12: 17,281,039 probably null Het
Pfkm A T 15: 98,126,385 I425F possibly damaging Het
Pikfyve C T 1: 65,252,467 R1282* probably null Het
Pole C T 5: 110,297,073 L432F probably damaging Het
Psat1 A G 19: 15,906,123 Y343H probably damaging Het
Ptprj C T 2: 90,478,968 R51K probably benign Het
Qars A G 9: 108,508,919 D103G probably benign Het
Rims2 A T 15: 39,459,593 I768F possibly damaging Het
Robo4 T A 9: 37,404,185 V275E probably damaging Het
Ryr2 A G 13: 11,635,582 probably benign Het
Sez6l T C 5: 112,475,403 H94R probably benign Het
Slco1c1 T A 6: 141,544,827 N211K possibly damaging Het
Strbp T C 2: 37,586,503 probably benign Het
Tceanc2 T A 4: 107,147,681 H90L probably damaging Het
Tdrkh A T 3: 94,424,537 T90S possibly damaging Het
Tiam2 A G 17: 3,509,548 D1288G probably damaging Het
Tln1 T C 4: 43,532,861 D2447G possibly damaging Het
Tmem63c G A 12: 87,065,549 V141M probably benign Het
Tpp2 T A 1: 43,956,489 V268E probably damaging Het
Tprkb T A 6: 85,924,418 C13S probably benign Het
Traf3ip3 T C 1: 193,195,077 T184A probably damaging Het
Trpc6 T A 9: 8,649,301 M504K probably benign Het
Ttn G T 2: 76,767,223 S18036* probably null Het
Wdfy4 A T 14: 32,966,435 C2914S probably damaging Het
Ylpm1 T A 12: 85,049,258 probably benign Het
Zfp644 T C 5: 106,637,268 H471R probably damaging Het
Zfyve16 C T 13: 92,511,817 E910K possibly damaging Het
Other mutations in Jag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Jag1 APN 2 137086032 critical splice acceptor site probably null
IGL00912:Jag1 APN 2 137115573 missense probably damaging 1.00
IGL01104:Jag1 APN 2 137084378 missense probably benign 0.40
IGL01529:Jag1 APN 2 137084977 missense probably damaging 0.99
IGL01578:Jag1 APN 2 137100051 splice site probably benign
IGL01720:Jag1 APN 2 137087103 missense probably damaging 1.00
IGL01809:Jag1 APN 2 137115484 missense probably damaging 1.00
IGL02402:Jag1 APN 2 137085938 missense possibly damaging 0.79
IGL02434:Jag1 APN 2 137087155 missense probably benign 0.01
IGL02543:Jag1 APN 2 137091947 splice site probably benign
IGL02650:Jag1 APN 2 137115585 missense possibly damaging 0.95
IGL03010:Jag1 APN 2 137093198 splice site probably benign
Grenville UTSW 2 137087142 missense probably damaging 1.00
PIT4651001:Jag1 UTSW 2 137101697 missense probably damaging 1.00
R0227:Jag1 UTSW 2 137115618 missense probably benign
R0306:Jag1 UTSW 2 137085935 missense probably damaging 1.00
R0325:Jag1 UTSW 2 137095445 critical splice donor site probably null
R0594:Jag1 UTSW 2 137087080 missense probably damaging 0.99
R0838:Jag1 UTSW 2 137093278 missense probably damaging 0.98
R0879:Jag1 UTSW 2 137100081 missense possibly damaging 0.80
R0900:Jag1 UTSW 2 137090882 frame shift probably null
R0972:Jag1 UTSW 2 137083451 missense possibly damaging 0.64
R1083:Jag1 UTSW 2 137096232 missense probably damaging 0.99
R1182:Jag1 UTSW 2 137091489 missense probably benign 0.36
R1292:Jag1 UTSW 2 137083473 missense possibly damaging 0.79
R1464:Jag1 UTSW 2 137115648 missense probably damaging 0.98
R1464:Jag1 UTSW 2 137115648 missense probably damaging 0.98
R1500:Jag1 UTSW 2 137115638 missense possibly damaging 0.82
R1936:Jag1 UTSW 2 137083473 missense possibly damaging 0.79
R1937:Jag1 UTSW 2 137083473 missense possibly damaging 0.79
R1939:Jag1 UTSW 2 137083473 missense possibly damaging 0.79
R1998:Jag1 UTSW 2 137090938 missense probably damaging 1.00
R2019:Jag1 UTSW 2 137084679 missense probably benign 0.37
R2213:Jag1 UTSW 2 137089892 missense probably benign 0.01
R2300:Jag1 UTSW 2 137096315 missense probably damaging 1.00
R2484:Jag1 UTSW 2 137084700 missense possibly damaging 0.86
R4179:Jag1 UTSW 2 137101658 missense probably damaging 0.99
R4212:Jag1 UTSW 2 137085070 missense probably benign
R4630:Jag1 UTSW 2 137085979 missense probably damaging 1.00
R4701:Jag1 UTSW 2 137094456 missense probably benign 0.11
R4705:Jag1 UTSW 2 137096309 missense probably damaging 1.00
R4904:Jag1 UTSW 2 137087142 missense probably damaging 1.00
R5050:Jag1 UTSW 2 137085154 missense possibly damaging 0.71
R5288:Jag1 UTSW 2 137095544 missense possibly damaging 0.75
R5367:Jag1 UTSW 2 137085094 missense possibly damaging 0.90
R5385:Jag1 UTSW 2 137095544 missense possibly damaging 0.75
R5386:Jag1 UTSW 2 137095544 missense possibly damaging 0.75
R5430:Jag1 UTSW 2 137101706 missense possibly damaging 0.94
R5472:Jag1 UTSW 2 137084995 missense probably damaging 1.00
R5755:Jag1 UTSW 2 137088690 missense probably damaging 1.00
R5764:Jag1 UTSW 2 137089247 missense probably damaging 1.00
R5804:Jag1 UTSW 2 137088204 missense probably benign 0.01
R6406:Jag1 UTSW 2 137087643 missense probably damaging 1.00
R6503:Jag1 UTSW 2 137101629 missense probably damaging 1.00
R6721:Jag1 UTSW 2 137094474 missense probably benign 0.00
R6826:Jag1 UTSW 2 137116175 critical splice donor site probably null
R7055:Jag1 UTSW 2 137115489 missense probably benign 0.26
R7214:Jag1 UTSW 2 137106882 missense probably benign 0.00
Z1088:Jag1 UTSW 2 137085151 missense probably benign 0.03
Posted On2016-08-02