Incidental Mutation 'IGL02651:Jhy'
ID302140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jhy
Ensembl Gene ENSMUSG00000032023
Gene Namejunctional cadherin complex regulator
Synonyms4931429I11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.029) question?
Stock #IGL02651
Quality Score
Status
Chromosome9
Chromosomal Location40894849-40964118 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 40917335 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 425 (L425P)
Ref Sequence ENSEMBL: ENSMUSP00000034521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034521]
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: 31,932,506 G233S probably benign Het
Abcc1 T A 16: 14,466,126 C1202S probably benign Het
Acaca C T 11: 84,245,204 probably benign Het
Ap3b1 T A 13: 94,477,021 F676Y probably damaging Het
Arhgef11 C A 3: 87,698,864 Q309K probably damaging Het
Asgr1 T C 11: 70,057,130 Y80H possibly damaging Het
Atp13a5 A T 16: 29,334,091 probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Atp8b2 A C 3: 89,954,589 probably null Het
Btnl2 A G 17: 34,356,222 M1V probably null Het
Cpsf3 T A 12: 21,293,297 M121K probably damaging Het
Creb3l3 A G 10: 81,084,834 I454T probably benign Het
Cyp2d12 A G 15: 82,556,740 E153G probably damaging Het
Dnah5 A G 15: 28,350,622 I2597V probably benign Het
Ercc5 C A 1: 44,156,944 S32R probably damaging Het
Fchsd2 T A 7: 101,277,600 N656K possibly damaging Het
Fga G A 3: 83,028,534 E23K probably benign Het
Fn1 T C 1: 71,597,676 T1925A possibly damaging Het
Fstl5 A T 3: 76,593,534 E423D probably damaging Het
Glg1 C T 8: 111,160,727 M465I possibly damaging Het
H2-M10.4 C A 17: 36,460,656 R210L probably benign Het
Hbb-y T G 7: 103,852,750 K105Q probably benign Het
Hspg2 A T 4: 137,557,445 probably benign Het
Ipo11 T C 13: 106,875,606 Y556C probably damaging Het
Itpr3 A G 17: 27,106,398 M1322V probably damaging Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Ms4a6c A T 19: 11,478,305 E159D possibly damaging Het
Msh6 A T 17: 87,989,515 L1213F probably damaging Het
Npy1r A C 8: 66,705,023 R328S possibly damaging Het
Olfr1247 A T 2: 89,609,498 N201K possibly damaging Het
Olfr988 A C 2: 85,353,050 L292R probably damaging Het
Pcdhb18 T G 18: 37,491,181 Y521* probably null Het
Pkhd1l1 A T 15: 44,483,814 Y192F probably damaging Het
Rdh12 T A 12: 79,222,052 I301N probably damaging Het
Rptor T C 11: 119,892,612 V1144A possibly damaging Het
Sap25 T C 5: 137,642,370 F171L possibly damaging Het
Senp5 A G 16: 31,990,079 L92P probably benign Het
Sfmbt1 T C 14: 30,815,537 S736P probably damaging Het
Tacr1 T C 6: 82,492,641 S169P probably damaging Het
Tbc1d21 A T 9: 58,363,101 Y130* probably null Het
Tle2 G A 10: 81,586,889 G428D probably damaging Het
Tmem117 T A 15: 95,094,561 N367K probably damaging Het
Tmem210 A G 2: 25,289,089 T130A possibly damaging Het
Ttn T G 2: 76,850,024 probably benign Het
Ttyh1 T C 7: 4,124,679 L122P probably damaging Het
Vmn2r60 T C 7: 42,195,586 F791S probably damaging Het
Vps13d A T 4: 145,164,559 N575K probably benign Het
Vps8 T C 16: 21,517,336 V746A probably damaging Het
Wdfy3 A T 5: 101,896,475 M1888K probably benign Het
Zfp595 T C 13: 67,320,953 D3G probably benign Het
Other mutations in Jhy
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00783:Jhy APN 9 40922752 missense probably benign 0.00
IGL00784:Jhy APN 9 40922752 missense probably benign 0.00
IGL01370:Jhy APN 9 40917142 missense probably benign 0.00
IGL01433:Jhy APN 9 40917216 missense possibly damaging 0.58
IGL01618:Jhy APN 9 40960964 missense possibly damaging 0.88
IGL01981:Jhy APN 9 40895546 missense probably damaging 1.00
IGL02047:Jhy APN 9 40917180 missense probably benign 0.00
IGL02076:Jhy APN 9 40917378 nonsense probably null
IGL02093:Jhy APN 9 40944867 splice site probably null
IGL02177:Jhy APN 9 40898257 missense probably damaging 1.00
IGL02406:Jhy APN 9 40910989 missense probably damaging 1.00
IGL02548:Jhy APN 9 40917175 nonsense probably null
IGL02550:Jhy APN 9 40917170 missense probably benign 0.26
IGL03080:Jhy APN 9 40944357 missense probably damaging 1.00
IGL03168:Jhy APN 9 40917552 missense possibly damaging 0.92
IGL03384:Jhy APN 9 40960932 missense probably benign 0.01
R0980:Jhy UTSW 9 40944837 missense possibly damaging 0.91
R1703:Jhy UTSW 9 40944837 missense probably damaging 1.00
R1711:Jhy UTSW 9 40911157 nonsense probably null
R1767:Jhy UTSW 9 40961148 missense probably benign 0.07
R2371:Jhy UTSW 9 40917482 missense probably benign 0.32
R2432:Jhy UTSW 9 40960886 missense probably benign 0.21
R3840:Jhy UTSW 9 40944846 missense probably benign 0.09
R3841:Jhy UTSW 9 40944846 missense probably benign 0.09
R4368:Jhy UTSW 9 40917144 missense possibly damaging 0.95
R4569:Jhy UTSW 9 40911093 missense probably benign
R4570:Jhy UTSW 9 40911093 missense probably benign
R4669:Jhy UTSW 9 40961153 missense probably benign 0.03
R4762:Jhy UTSW 9 40911198 missense probably benign
R4902:Jhy UTSW 9 40897525 intron probably benign
R4932:Jhy UTSW 9 40961003 missense possibly damaging 0.66
R5704:Jhy UTSW 9 40897438 missense probably damaging 0.99
R5890:Jhy UTSW 9 40922662 nonsense probably null
R6701:Jhy UTSW 9 40917591 missense probably damaging 0.99
Posted On2015-04-16