Incidental Mutation 'IGL03168:Jhy'
ID 411717
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 # IGL03168
Quality Score
Status
Chromosome 9
Chromosomal Location 40806145-40875414 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40828848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 353 (S353T)
Ref Sequence ENSEMBL: ENSMUSP00000034521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034521]
AlphaFold E9Q793
Predicted Effect possibly damaging
Transcript: ENSMUST00000034521
AA Change: S353T

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034521
Gene: ENSMUSG00000032023
AA Change: S353T

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c6 T C 13: 4,486,280 (GRCm39) V29A probably benign Het
Ankk1 C A 9: 49,327,068 (GRCm39) A704S possibly damaging Het
Aph1c G A 9: 66,740,619 (GRCm39) probably benign Het
Arglu1 T A 8: 8,733,960 (GRCm39) I119L probably benign Het
Brwd1 A T 16: 95,818,877 (GRCm39) S1318R possibly damaging Het
Calhm4 C T 10: 33,917,552 (GRCm39) V300I probably benign Het
Chd3 A G 11: 69,239,741 (GRCm39) probably benign Het
Colq T C 14: 31,246,377 (GRCm39) Y445C probably damaging Het
Cyp2a4 A T 7: 26,012,975 (GRCm39) probably benign Het
Cyp2j7 C T 4: 96,118,274 (GRCm39) M106I probably benign Het
Erfe T G 1: 91,299,164 (GRCm39) N302K probably damaging Het
Fggy A T 4: 95,815,046 (GRCm39) probably benign Het
Gata3 A G 2: 9,873,625 (GRCm39) Y290H probably damaging Het
Grik4 T C 9: 42,582,539 (GRCm39) T136A probably damaging Het
Hc G T 2: 34,914,210 (GRCm39) N832K probably benign Het
Krt40 T A 11: 99,433,854 (GRCm39) Q44L possibly damaging Het
Ksr2 T C 5: 117,886,846 (GRCm39) F794S probably damaging Het
Or2l13 A T 16: 19,305,969 (GRCm39) H127L probably benign Het
Or2n1e A C 17: 38,585,682 (GRCm39) S7R probably damaging Het
Or4p7 A G 2: 88,221,938 (GRCm39) M116V probably damaging Het
Or5ac16 A G 16: 59,022,610 (GRCm39) Y60H probably damaging Het
Or5t9 A G 2: 86,659,607 (GRCm39) I170M possibly damaging Het
Or8b1c A G 9: 38,384,315 (GRCm39) T91A probably benign Het
Pcdhb17 A G 18: 37,618,825 (GRCm39) E205G probably benign Het
Pon3 A T 6: 5,256,177 (GRCm39) I17K possibly damaging Het
Prkd2 A G 7: 16,584,188 (GRCm39) D347G possibly damaging Het
Prkdc A G 16: 15,652,030 (GRCm39) I3806V probably benign Het
Qpct C A 17: 79,359,753 (GRCm39) A20E unknown Het
Rap1a A G 3: 105,657,587 (GRCm39) S11P probably damaging Het
Rnf145 C A 11: 44,445,985 (GRCm39) T273K probably damaging Het
Speg T C 1: 75,364,831 (GRCm39) I298T probably damaging Het
Syt6 G A 3: 103,494,943 (GRCm39) V303M probably damaging Het
Tpr A G 1: 150,284,508 (GRCm39) I324M probably benign Het
Uggt2 A G 14: 119,315,080 (GRCm39) F330L probably damaging Het
Unc45a A T 7: 79,982,881 (GRCm39) L348Q probably damaging Het
Vmn1r17 T A 6: 57,337,583 (GRCm39) I212F probably benign Het
Vmn2r68 A C 7: 84,870,972 (GRCm39) N770K probably damaging Het
Zfhx3 T C 8: 109,673,132 (GRCm39) V1394A probably damaging 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
IGL02651:Jhy APN 9 40,828,631 (GRCm39) missense probably damaging 1.00
IGL03080:Jhy APN 9 40,855,653 (GRCm39) missense probably damaging 1.00
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 2016-08-02