Incidental Mutation 'R1308:Jph1'
ID 157845
Institutional Source Beutler Lab
Gene Symbol Jph1
Ensembl Gene ENSMUSG00000042686
Gene Name junctophilin 1
Synonyms JP-1, ENSMUSG00000054314, mitsugumin72
MMRRC Submission 039374-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.701) question?
Stock # R1308 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 17034784-17168113 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17161918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 248 (I248T)
Ref Sequence ENSEMBL: ENSMUSP00000039072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038382]
AlphaFold Q9ET80
Predicted Effect probably damaging
Transcript: ENSMUST00000038382
AA Change: I248T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000039072
Gene: ENSMUSG00000042686
AA Change: I248T

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
  • 1x: 98.8%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.3%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt2 C T 8: 18,742,134 (GRCm39) W474* probably null Het
Cln6 A G 9: 62,758,143 (GRCm39) T301A probably damaging Het
G6pc2 A T 2: 69,050,570 (GRCm39) D65V probably damaging Het
Havcr1 C T 11: 46,647,097 (GRCm39) T177I probably damaging Het
Lamc2 A G 1: 153,026,564 (GRCm39) L230P probably damaging Het
Lmnb1 A G 18: 56,861,547 (GRCm39) K146R probably benign Het
Map3k6 T C 4: 132,973,126 (GRCm39) S395P probably damaging Het
Myo6 G A 9: 80,152,996 (GRCm39) V210I probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Otoa C A 7: 120,724,666 (GRCm39) C448* probably null Het
Pate6 T C 9: 35,700,385 (GRCm39) T67A probably benign Het
Prkcg G C 7: 3,377,622 (GRCm39) K525N probably damaging Het
Pros1 G A 16: 62,734,228 (GRCm39) D345N probably damaging Het
Prss47 T C 13: 65,199,630 (GRCm39) H83R probably benign Het
R3hdml G T 2: 163,344,319 (GRCm39) C236F probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Syt12 A T 19: 4,510,763 (GRCm39) V37E probably damaging Het
Tekt2 A T 4: 126,218,711 (GRCm39) L14H probably damaging Het
Tnpo2 T C 8: 85,781,982 (GRCm39) F857S probably damaging Het
Wdr27 T C 17: 15,148,646 (GRCm39) T116A probably damaging Het
Other mutations in Jph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00732:Jph1 APN 1 17,161,964 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AAGCTGCTTCCTTATCCCACGGAC -3'
(R):5'- AACTTCCATGCGGACACGGAAC -3'

Sequencing Primer
(F):5'- CTTCTTTGGAGCCATCAGGAAAC -3'
(R):5'- CGGACACGGAACTGGGC -3'
Posted On 2014-02-18