Incidental Mutation 'IGL00732:Jph1'
ID 12687
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jph1
Ensembl Gene ENSMUSG00000042686
Gene Name junctophilin 1
Synonyms JP-1, ENSMUSG00000054314, mitsugumin72
Accession Numbers
Essential gene? Possibly essential (E-score: 0.701) question?
Stock # IGL00732
Quality Score
Status
Chromosome 1
Chromosomal Location 17034784-17168113 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17161964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 233 (S233P)
Ref Sequence ENSEMBL: ENSMUSP00000039072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038382]
AlphaFold Q9ET80
Predicted Effect probably damaging
Transcript: ENSMUST00000038382
AA Change: S233P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039072
Gene: ENSMUSG00000042686
AA Change: S233P

DomainStartEndE-ValueType
MORN 12 33 7.31e-1 SMART
MORN 36 56 7.6e1 SMART
MORN 58 79 2.49e-1 SMART
Pfam:MORN 82 99 8.9e-3 PFAM
MORN 104 125 3.72e-4 SMART
MORN 127 148 7.86e-3 SMART
low complexity region 204 220 N/A INTRINSIC
low complexity region 224 241 N/A INTRINSIC
MORN 279 300 2.07e-2 SMART
MORN 302 323 2.86e-5 SMART
low complexity region 382 400 N/A INTRINSIC
low complexity region 465 491 N/A INTRINSIC
transmembrane domain 637 659 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186604
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation fail to suckle and die shortly after birth. Mutants exhibit deficiencies of triad junctions and contraction in skeletal muscle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Dnah8 A G 17: 30,875,615 (GRCm39) Y479C probably damaging Het
Nrip1 G A 16: 76,089,949 (GRCm39) T536I probably benign Het
Pik3c2a G A 7: 115,963,735 (GRCm39) A925V possibly damaging Het
Prps2 A T X: 166,157,138 (GRCm39) I56N possibly damaging Het
Sass6 G A 3: 116,411,977 (GRCm39) E312K probably damaging Het
Zfp1 G A 8: 112,397,050 (GRCm39) G324D probably damaging Het
Zfp282 C T 6: 47,857,324 (GRCm39) P186S probably damaging Het
Other mutations in Jph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Jph1 APN 1 17,086,380 (GRCm39) missense probably damaging 1.00
IGL01936:Jph1 APN 1 17,167,608 (GRCm39) missense probably damaging 0.98
IGL02012:Jph1 APN 1 17,167,638 (GRCm39) missense probably benign 0.00
IGL02142:Jph1 APN 1 17,161,884 (GRCm39) missense probably damaging 0.99
IGL02212:Jph1 APN 1 17,161,981 (GRCm39) missense probably damaging 1.00
IGL02317:Jph1 APN 1 17,074,147 (GRCm39) missense probably benign
IGL02450:Jph1 APN 1 17,074,201 (GRCm39) missense possibly damaging 0.77
IGL02707:Jph1 APN 1 17,074,675 (GRCm39) missense probably benign
R0668:Jph1 UTSW 1 17,161,895 (GRCm39) missense probably damaging 1.00
R0893:Jph1 UTSW 1 17,074,507 (GRCm39) nonsense probably null
R1308:Jph1 UTSW 1 17,161,918 (GRCm39) missense probably damaging 1.00
R1318:Jph1 UTSW 1 17,067,714 (GRCm39) missense probably damaging 1.00
R1495:Jph1 UTSW 1 17,161,876 (GRCm39) missense probably benign
R1712:Jph1 UTSW 1 17,167,456 (GRCm39) missense possibly damaging 0.57
R1916:Jph1 UTSW 1 17,162,279 (GRCm39) missense probably damaging 1.00
R4492:Jph1 UTSW 1 17,067,770 (GRCm39) missense probably damaging 1.00
R4559:Jph1 UTSW 1 17,074,735 (GRCm39) missense probably benign
R4565:Jph1 UTSW 1 17,074,426 (GRCm39) missense possibly damaging 0.91
R4694:Jph1 UTSW 1 17,067,729 (GRCm39) missense probably damaging 0.98
R4700:Jph1 UTSW 1 17,161,928 (GRCm39) missense possibly damaging 0.82
R4906:Jph1 UTSW 1 17,161,835 (GRCm39) missense probably damaging 1.00
R5029:Jph1 UTSW 1 17,161,615 (GRCm39) missense possibly damaging 0.85
R5256:Jph1 UTSW 1 17,161,622 (GRCm39) missense probably benign 0.38
R5316:Jph1 UTSW 1 17,161,750 (GRCm39) missense probably damaging 1.00
R5691:Jph1 UTSW 1 17,074,587 (GRCm39) missense probably benign 0.21
R6209:Jph1 UTSW 1 17,167,810 (GRCm39) missense probably damaging 0.98
R6380:Jph1 UTSW 1 17,162,071 (GRCm39) missense probably damaging 1.00
R6645:Jph1 UTSW 1 17,161,985 (GRCm39) missense probably damaging 1.00
R6829:Jph1 UTSW 1 17,074,647 (GRCm39) missense probably damaging 1.00
R7007:Jph1 UTSW 1 17,074,410 (GRCm39) missense possibly damaging 0.85
R7276:Jph1 UTSW 1 17,162,266 (GRCm39) missense probably damaging 1.00
R7689:Jph1 UTSW 1 17,074,192 (GRCm39) nonsense probably null
R7719:Jph1 UTSW 1 17,162,215 (GRCm39) missense probably damaging 1.00
R7792:Jph1 UTSW 1 17,074,602 (GRCm39) missense probably benign 0.02
R8132:Jph1 UTSW 1 17,086,379 (GRCm39) missense probably damaging 1.00
R8871:Jph1 UTSW 1 17,067,719 (GRCm39) missense possibly damaging 0.83
R9217:Jph1 UTSW 1 17,167,632 (GRCm39) missense probably benign 0.24
R9272:Jph1 UTSW 1 17,161,838 (GRCm39) missense probably damaging 1.00
R9631:Jph1 UTSW 1 17,161,607 (GRCm39) missense probably damaging 0.99
Z1176:Jph1 UTSW 1 17,167,576 (GRCm39) missense possibly damaging 0.92
Posted On 2012-12-06