Incidental Mutation 'IGL02651:Jhy'
ID 302140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jhy
Ensembl Gene ENSMUSG00000032023
Gene Name junctional cadherin complex regulator
Synonyms 4931429I11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL02651
Quality Score
Status
Chromosome 9
Chromosomal Location 40806145-40875414 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40828631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 425 (L425P)
Ref Sequence ENSEMBL: ENSMUSP00000034521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034521]
AlphaFold E9Q793
Predicted Effect probably damaging
Transcript: ENSMUST00000034521
AA Change: L425P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034521
Gene: ENSMUSG00000032023
AA Change: L425P

DomainStartEndE-ValueType
low complexity region 42 51 N/A INTRINSIC
low complexity region 71 85 N/A INTRINSIC
low complexity region 216 229 N/A INTRINSIC
low complexity region 383 398 N/A INTRINSIC
low complexity region 624 638 N/A INTRINSIC
Pfam:DUF4591 648 767 7.2e-38 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit hydrocephalus, domed cranium, ataxia, weight loss, enlarged lateral ventricle, neuodegeneration, abnormal brain ependymal motile cilium and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,909,906 (GRCm39) G233S probably benign Het
Abcc1 T A 16: 14,283,990 (GRCm39) C1202S probably benign Het
Acaca C T 11: 84,136,030 (GRCm39) probably benign Het
Ap3b1 T A 13: 94,613,529 (GRCm39) F676Y probably damaging Het
Arhgef11 C A 3: 87,606,171 (GRCm39) Q309K probably damaging Het
Asgr1 T C 11: 69,947,956 (GRCm39) Y80H possibly damaging Het
Atp13a5 A T 16: 29,152,909 (GRCm39) probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Atp8b2 A C 3: 89,861,896 (GRCm39) probably null Het
Btnl2 A G 17: 34,575,196 (GRCm39) M1V probably null Het
Cpsf3 T A 12: 21,343,298 (GRCm39) M121K probably damaging Het
Creb3l3 A G 10: 80,920,668 (GRCm39) I454T probably benign Het
Cyp2d12 A G 15: 82,440,941 (GRCm39) E153G probably damaging Het
Dnah5 A G 15: 28,350,768 (GRCm39) I2597V probably benign Het
Ercc5 C A 1: 44,196,104 (GRCm39) S32R probably damaging Het
Fchsd2 T A 7: 100,926,807 (GRCm39) N656K possibly damaging Het
Fga G A 3: 82,935,841 (GRCm39) E23K probably benign Het
Fn1 T C 1: 71,636,835 (GRCm39) T1925A possibly damaging Het
Fstl5 A T 3: 76,500,841 (GRCm39) E423D probably damaging Het
Glg1 C T 8: 111,887,359 (GRCm39) M465I possibly damaging Het
H2-M10.4 C A 17: 36,771,548 (GRCm39) R210L probably benign Het
Hbb-y T G 7: 103,501,957 (GRCm39) K105Q probably benign Het
Hspg2 A T 4: 137,284,756 (GRCm39) probably benign Het
Ipo11 T C 13: 107,012,114 (GRCm39) Y556C probably damaging Het
Itpr3 A G 17: 27,325,372 (GRCm39) M1322V probably damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Ms4a6c A T 19: 11,455,669 (GRCm39) E159D possibly damaging Het
Msh6 A T 17: 88,296,943 (GRCm39) L1213F probably damaging Het
Npy1r A C 8: 67,157,675 (GRCm39) R328S possibly damaging Het
Or4a74 A T 2: 89,439,842 (GRCm39) N201K possibly damaging Het
Or5ak20 A C 2: 85,183,394 (GRCm39) L292R probably damaging Het
Pcdhb18 T G 18: 37,624,234 (GRCm39) Y521* probably null Het
Pkhd1l1 A T 15: 44,347,210 (GRCm39) Y192F probably damaging Het
Rdh12 T A 12: 79,268,826 (GRCm39) I301N probably damaging Het
Rptor T C 11: 119,783,438 (GRCm39) V1144A possibly damaging Het
Sap25 T C 5: 137,640,632 (GRCm39) F171L possibly damaging Het
Senp5 A G 16: 31,808,897 (GRCm39) L92P probably benign Het
Sfmbt1 T C 14: 30,537,494 (GRCm39) S736P probably damaging Het
Tacr1 T C 6: 82,469,622 (GRCm39) S169P probably damaging Het
Tbc1d21 A T 9: 58,270,384 (GRCm39) Y130* probably null Het
Tle2 G A 10: 81,422,723 (GRCm39) G428D probably damaging Het
Tmem117 T A 15: 94,992,442 (GRCm39) N367K probably damaging Het
Tmem210 A G 2: 25,179,101 (GRCm39) T130A possibly damaging Het
Ttn T G 2: 76,680,368 (GRCm39) probably benign Het
Ttyh1 T C 7: 4,127,678 (GRCm39) L122P probably damaging Het
Vmn2r60 T C 7: 41,845,010 (GRCm39) F791S probably damaging Het
Vps13d A T 4: 144,891,129 (GRCm39) N575K probably benign Het
Vps8 T C 16: 21,336,086 (GRCm39) V746A probably damaging Het
Wdfy3 A T 5: 102,044,341 (GRCm39) M1888K probably benign Het
Zfp595 T C 13: 67,469,017 (GRCm39) D3G probably benign Het
Other mutations in Jhy
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00783:Jhy APN 9 40,834,048 (GRCm39) missense probably benign 0.00
IGL00784:Jhy APN 9 40,834,048 (GRCm39) missense probably benign 0.00
IGL01370:Jhy APN 9 40,828,438 (GRCm39) missense probably benign 0.00
IGL01433:Jhy APN 9 40,828,512 (GRCm39) missense possibly damaging 0.58
IGL01618:Jhy APN 9 40,872,260 (GRCm39) missense possibly damaging 0.88
IGL01981:Jhy APN 9 40,806,842 (GRCm39) missense probably damaging 1.00
IGL02047:Jhy APN 9 40,828,476 (GRCm39) missense probably benign 0.00
IGL02076:Jhy APN 9 40,828,674 (GRCm39) nonsense probably null
IGL02093:Jhy APN 9 40,856,163 (GRCm39) splice site probably null
IGL02177:Jhy APN 9 40,809,553 (GRCm39) missense probably damaging 1.00
IGL02406:Jhy APN 9 40,822,285 (GRCm39) missense probably damaging 1.00
IGL02548:Jhy APN 9 40,828,471 (GRCm39) nonsense probably null
IGL02550:Jhy APN 9 40,828,466 (GRCm39) missense probably benign 0.26
IGL03080:Jhy APN 9 40,855,653 (GRCm39) missense probably damaging 1.00
IGL03168:Jhy APN 9 40,828,848 (GRCm39) missense possibly damaging 0.92
IGL03384:Jhy APN 9 40,872,228 (GRCm39) missense probably benign 0.01
R0980:Jhy UTSW 9 40,856,133 (GRCm39) missense possibly damaging 0.91
R1703:Jhy UTSW 9 40,856,133 (GRCm39) missense probably damaging 1.00
R1711:Jhy UTSW 9 40,822,453 (GRCm39) nonsense probably null
R1767:Jhy UTSW 9 40,872,444 (GRCm39) missense probably benign 0.07
R2371:Jhy UTSW 9 40,828,778 (GRCm39) missense probably benign 0.32
R2432:Jhy UTSW 9 40,872,182 (GRCm39) missense probably benign 0.21
R3840:Jhy UTSW 9 40,856,142 (GRCm39) missense probably benign 0.09
R3841:Jhy UTSW 9 40,856,142 (GRCm39) missense probably benign 0.09
R4368:Jhy UTSW 9 40,828,440 (GRCm39) missense possibly damaging 0.95
R4569:Jhy UTSW 9 40,822,389 (GRCm39) missense probably benign
R4570:Jhy UTSW 9 40,822,389 (GRCm39) missense probably benign
R4669:Jhy UTSW 9 40,872,449 (GRCm39) missense probably benign 0.03
R4762:Jhy UTSW 9 40,822,494 (GRCm39) missense probably benign
R4902:Jhy UTSW 9 40,808,821 (GRCm39) intron probably benign
R4932:Jhy UTSW 9 40,872,299 (GRCm39) missense possibly damaging 0.66
R5704:Jhy UTSW 9 40,808,734 (GRCm39) missense probably damaging 0.99
R5890:Jhy UTSW 9 40,833,958 (GRCm39) nonsense probably null
R6701:Jhy UTSW 9 40,828,887 (GRCm39) missense probably damaging 0.99
R7110:Jhy UTSW 9 40,828,556 (GRCm39) missense probably damaging 1.00
R7266:Jhy UTSW 9 40,872,453 (GRCm39) missense probably benign 0.00
R8134:Jhy UTSW 9 40,872,188 (GRCm39) missense probably null
R8784:Jhy UTSW 9 40,872,182 (GRCm39) missense probably benign 0.00
R8911:Jhy UTSW 9 40,822,453 (GRCm39) nonsense probably null
R9027:Jhy UTSW 9 40,828,823 (GRCm39) missense probably benign 0.30
R9737:Jhy UTSW 9 40,808,748 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16