Incidental Mutation 'IGL01981:Jhy'
ID 183498
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 # IGL01981
Quality Score
Status
Chromosome 9
Chromosomal Location 40806145-40875414 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40806842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 769 (I769N)
Ref Sequence ENSEMBL: ENSMUSP00000034521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034521]
AlphaFold E9Q793
Predicted Effect probably damaging
Transcript: ENSMUST00000034521
AA Change: I769N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034521
Gene: ENSMUSG00000032023
AA Change: I769N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162122
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A C 7: 27,337,499 (GRCm39) D417A probably benign Het
Ap1b1 T A 11: 4,969,336 (GRCm39) S231T possibly damaging Het
Arhgap31 G A 16: 38,421,935 (GRCm39) T1377I probably damaging Het
Cdkl3 A G 11: 51,895,896 (GRCm39) T48A probably benign Het
Chd3 T C 11: 69,251,501 (GRCm39) Y510C probably damaging Het
Chml A G 1: 175,515,751 (GRCm39) S57P probably damaging Het
Cpxm1 G T 2: 130,236,060 (GRCm39) C367* probably null Het
D930020B18Rik A G 10: 121,528,319 (GRCm39) T428A probably damaging Het
Dnaja3 A T 16: 4,519,033 (GRCm39) I325F probably damaging Het
Efcab3 A T 11: 104,612,258 (GRCm39) probably benign Het
Erbb3 A G 10: 128,407,519 (GRCm39) V943A probably benign Het
Fam110b A G 4: 5,799,481 (GRCm39) I300V probably benign Het
Fam193a A G 5: 34,588,537 (GRCm39) E76G probably damaging Het
Fbxl3 G A 14: 103,332,900 (GRCm39) T26M possibly damaging Het
Furin A G 7: 80,042,647 (GRCm39) L380P probably damaging Het
Fxr2 A C 11: 69,541,328 (GRCm39) I354L possibly damaging Het
Garnl3 G T 2: 32,887,741 (GRCm39) N756K probably damaging Het
Gimap1 A G 6: 48,720,258 (GRCm39) Y290C probably damaging Het
Gm5592 G A 7: 40,935,795 (GRCm39) W99* probably null Het
Hexd G T 11: 121,107,819 (GRCm39) S183I possibly damaging Het
Hmg20a C T 9: 56,384,514 (GRCm39) P95S probably damaging Het
Lrrd1 G T 5: 3,901,267 (GRCm39) C524F probably damaging Het
Musk C A 4: 58,296,629 (GRCm39) S76R probably damaging Het
Myom3 C T 4: 135,513,160 (GRCm39) R613* probably null Het
Naa16 T A 14: 79,618,956 (GRCm39) E172D probably benign Het
Obox6 A T 7: 15,568,846 (GRCm39) M10K possibly damaging Het
Or5al5 A T 2: 85,961,174 (GRCm39) Y278N probably benign Het
Pam C T 1: 97,762,166 (GRCm39) V700M probably damaging Het
Phf8-ps C T 17: 33,286,628 (GRCm39) G58E probably damaging Het
Pkd1l2 C A 8: 117,743,655 (GRCm39) R1978L probably benign Het
Pkhd1 T A 1: 20,593,791 (GRCm39) T1441S possibly damaging Het
Plg A G 17: 12,621,934 (GRCm39) probably benign Het
Pot1a A G 6: 25,750,099 (GRCm39) L521P probably damaging Het
Pramel14 G A 4: 143,720,924 (GRCm39) P6S probably damaging Het
Ptprj A T 2: 90,270,256 (GRCm39) V1280E probably damaging Het
Rcbtb2 T C 14: 73,402,222 (GRCm39) S136P possibly damaging Het
Rtl1 C T 12: 109,558,369 (GRCm39) E1157K possibly damaging Het
Sell G A 1: 163,893,195 (GRCm39) R137Q probably benign Het
Shisa9 A T 16: 12,062,522 (GRCm39) M248L probably benign Het
Spag17 A G 3: 99,966,149 (GRCm39) E1144G probably benign Het
Sphk2 G T 7: 45,360,157 (GRCm39) Q616K probably benign Het
Tecrl T C 5: 83,442,453 (GRCm39) T207A probably benign Het
Ubr5 T C 15: 37,996,842 (GRCm39) T1885A probably benign Het
Usp24 T C 4: 106,232,965 (GRCm39) probably benign Het
Usp32 A G 11: 84,927,350 (GRCm39) M622T probably benign Het
Vangl1 A G 3: 102,091,607 (GRCm39) F160L probably damaging Het
Vps13d T C 4: 144,813,317 (GRCm39) S3289G probably damaging Het
Wdfy4 A G 14: 32,855,673 (GRCm39) F647S probably damaging Het
Wdhd1 A G 14: 47,498,907 (GRCm39) L509P probably damaging Het
Zcchc2 A G 1: 105,955,229 (GRCm39) E640G probably damaging Het
Zfp563 T A 17: 33,324,383 (GRCm39) I326N 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
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
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 2014-05-07