Incidental Mutation 'IGL02550:Jhy'
ID298029
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 #IGL02550
Quality Score
Status
Chromosome9
Chromosomal Location40894849-40964118 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 40917170 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 480 (F480S)
Ref Sequence ENSEMBL: ENSMUSP00000034521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034521]
Predicted Effect probably benign
Transcript: ENSMUST00000034521
AA Change: F480S

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034521
Gene: ENSMUSG00000032023
AA Change: F480S

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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010109I03Rik T G 15: 74,880,755 H24P probably damaging Het
Acadl A G 1: 66,845,166 probably null Het
Acer3 G A 7: 98,223,978 T171I probably benign Het
Acsm2 C T 7: 119,573,284 P117S probably damaging Het
Anxa2 A G 9: 69,467,306 S22G probably benign Het
Arrb2 T C 11: 70,436,870 I120T probably damaging Het
Atp11a G T 8: 12,816,997 K141N possibly damaging Het
Casd1 T C 6: 4,642,009 V762A probably benign Het
Ccdc61 A T 7: 18,893,302 S48T probably benign Het
Cntn2 T C 1: 132,529,063 M82V probably null Het
Cobll1 A G 2: 65,107,863 S359P probably damaging Het
Ctnnbl1 C A 2: 157,884,135 D465E probably benign Het
Def6 A T 17: 28,228,261 E622V probably benign Het
Dmgdh T C 13: 93,717,575 Y678H probably damaging Het
Dock9 A T 14: 121,698,312 M1K probably null Het
Esyt1 T C 10: 128,522,093 K216E probably damaging Het
Fhod3 A G 18: 25,022,960 D545G probably benign Het
Galnt12 A T 4: 47,104,126 D128V possibly damaging Het
Gm1110 C T 9: 26,881,834 V549I probably benign Het
Gm1966 A T 7: 106,601,639 noncoding transcript Het
Gm7361 A G 5: 26,261,122 I161V possibly damaging Het
Gsn T C 2: 35,282,607 probably benign Het
Il16 T A 7: 83,674,496 Q282L possibly damaging Het
Il3ra A G 14: 14,348,055 D67G probably benign Het
Insrr T C 3: 87,804,498 L515P probably damaging Het
Klc4 C A 17: 46,636,910 probably null Het
Klhl12 G T 1: 134,467,705 C135F possibly damaging Het
Mboat7 G T 7: 3,683,906 probably null Het
Myo1f A G 17: 33,580,150 probably benign Het
Myo1f G A 17: 33,588,142 D522N probably damaging Het
Nbea C A 3: 56,019,414 M789I probably damaging Het
Ncapd2 T C 6: 125,177,447 D602G probably benign Het
Ncaph2 A T 15: 89,369,861 K344* probably null Het
Nek2 A G 1: 191,822,259 Y70C probably damaging Het
Olfr1277 T A 2: 111,270,004 D121V probably damaging Het
Olfr1281 T C 2: 111,328,500 L27P probably damaging Het
Olfr31 T C 14: 14,328,423 L104P possibly damaging Het
Olfr857 C A 9: 19,713,047 F73L possibly damaging Het
Olfr955 T A 9: 39,470,546 Y60F probably benign Het
Olfr992 G A 2: 85,399,822 A237V probably damaging Het
Plcb3 T A 19: 6,960,176 K625* probably null Het
Plrg1 T C 3: 83,061,123 probably null Het
Ptpn12 A G 5: 20,998,139 V547A probably benign Het
Ralgapb A G 2: 158,448,411 D748G probably damaging Het
Rcbtb2 A G 14: 73,162,019 E41G probably damaging Het
Rela G T 19: 5,641,506 R236L possibly damaging Het
Rps6kc1 A G 1: 190,871,862 S188P probably damaging Het
Sipa1l1 A T 12: 82,440,949 K1666* probably null Het
Slco1a1 C T 6: 141,943,465 M40I probably benign Het
Smarca4 C A 9: 21,686,122 P1391Q probably benign Het
Stra6 A G 9: 58,150,083 N392S possibly damaging Het
Syt4 A G 18: 31,444,193 I36T probably damaging Het
Tgfbr2 A T 9: 116,110,129 M235K probably benign Het
Tmem87a T A 2: 120,374,485 probably null Het
Tmf1 T C 6: 97,158,561 D918G probably benign Het
Tnfaip2 A G 12: 111,446,101 Y312C probably damaging Het
Usp47 C T 7: 112,104,354 R1178C probably damaging Het
Vmn2r95 T A 17: 18,451,732 I577N probably damaging Het
Vps13b T C 15: 35,572,096 V953A probably benign Het
Wasl A G 6: 24,633,884 F127S probably damaging Het
Wdr1 C T 5: 38,540,863 V192I probably damaging Het
Wnt9a C T 11: 59,330,918 T214I probably damaging Het
Xpo5 A G 17: 46,229,329 D693G probably benign Het
Zan A G 5: 137,387,039 L5044P unknown Het
Zhx3 T C 2: 160,781,296 N317S probably damaging 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
IGL02651:Jhy APN 9 40917335 missense probably damaging 1.00
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