Incidental Mutation 'R0893:Jph1'
ID 83554
Institutional Source Beutler Lab
Gene Symbol Jph1
Ensembl Gene ENSMUSG00000042686
Gene Name junctophilin 1
Synonyms JP-1, ENSMUSG00000054314, mitsugumin72
MMRRC Submission 039056-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.701) question?
Stock # R0893 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 17034784-17168113 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 17074507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 504 (E504*)
Ref Sequence ENSEMBL: ENSMUSP00000039072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038382]
AlphaFold Q9ET80
Predicted Effect probably null
Transcript: ENSMUST00000038382
AA Change: E504*
SMART Domains Protein: ENSMUSP00000039072
Gene: ENSMUSG00000042686
AA Change: E504*

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 probably benign
Transcript: ENSMUST00000186024
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186604
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 95.1%
Validation Efficiency 99% (77/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,266,082 (GRCm39) probably benign Het
Adnp A T 2: 168,025,647 (GRCm39) F549L possibly damaging Het
Agl A G 3: 116,546,935 (GRCm39) I1305T probably benign Het
Aldh8a1 T A 10: 21,267,593 (GRCm39) M326K probably benign Het
Amdhd1 A T 10: 93,363,513 (GRCm39) M295K probably damaging Het
Arhgef4 T A 1: 34,846,191 (GRCm39) C324S probably damaging Het
Car8 A T 4: 8,238,119 (GRCm39) probably null Het
Cc2d1a T C 8: 84,867,468 (GRCm39) probably benign Het
Cd81 G A 7: 142,616,242 (GRCm39) V27M possibly damaging Het
Ces1b A T 8: 93,806,056 (GRCm39) S62T probably benign Het
Cfb A G 17: 35,077,031 (GRCm39) S30P probably damaging Het
Cmtm3 A G 8: 105,070,543 (GRCm39) M101V possibly damaging Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Ddb1 C T 19: 10,590,280 (GRCm39) S269L probably benign Het
Ddx25 G A 9: 35,465,686 (GRCm39) Q143* probably null Het
Dis3l2 T A 1: 86,971,928 (GRCm39) probably null Het
Dlgap4 G T 2: 156,587,898 (GRCm39) E598* probably null Het
Dus1l C T 11: 120,680,262 (GRCm39) G471D possibly damaging Het
Elp4 C A 2: 105,727,290 (GRCm39) probably benign Het
Eya3 A G 4: 132,417,097 (GRCm39) N194S probably benign Het
Golgb1 G T 16: 36,732,639 (GRCm39) V629L possibly damaging Het
Hars2 G A 18: 36,920,648 (GRCm39) A164T possibly damaging Het
Hexb T A 13: 97,322,135 (GRCm39) I217L probably benign Het
Hgh1 A G 15: 76,253,848 (GRCm39) probably null Het
Hsd3b3 A T 3: 98,649,757 (GRCm39) probably null Het
Ighg2c T A 12: 113,251,053 (GRCm39) N321Y unknown Het
Il5 A G 11: 53,611,763 (GRCm39) T34A probably benign Het
Kif2b G T 11: 91,466,420 (GRCm39) T621K probably benign Het
Kmt2c A T 5: 25,556,268 (GRCm39) probably benign Het
Leprotl1 A G 8: 34,606,006 (GRCm39) probably null Het
Lpar3 C T 3: 145,946,348 (GRCm39) R9C possibly damaging Het
Map1a A G 2: 121,131,014 (GRCm39) E372G probably damaging Het
Map2 C A 1: 66,419,927 (GRCm39) T86K probably damaging Het
Map7 A G 10: 20,149,629 (GRCm39) probably null Het
Mdn1 T C 4: 32,701,713 (GRCm39) V1482A probably benign Het
Mks1 G A 11: 87,747,777 (GRCm39) probably benign Het
Morf4l1 T G 9: 89,984,403 (GRCm39) K102N probably damaging Het
Mroh1 T A 15: 76,293,138 (GRCm39) V304D possibly damaging Het
Mtg1 G A 7: 139,729,665 (GRCm39) V252M probably damaging Het
Myh13 A T 11: 67,225,427 (GRCm39) D264V probably damaging Het
Myh2 A G 11: 67,077,334 (GRCm39) Y823C possibly damaging Het
Myoz1 A T 14: 20,701,252 (GRCm39) S112R probably benign Het
Ncapd2 A G 6: 125,150,445 (GRCm39) V860A probably benign Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Npffr1 T C 10: 61,450,010 (GRCm39) F95L possibly damaging Het
Or51f1e G T 7: 102,747,641 (GRCm39) R231L probably benign Het
Or8b9 T C 9: 37,766,492 (GRCm39) I126T probably damaging Het
Orc4 A C 2: 48,822,622 (GRCm39) probably benign Het
P3h3 A C 6: 124,822,476 (GRCm39) I565R probably damaging Het
Pak4 T C 7: 28,259,202 (GRCm39) D552G probably benign Het
Pcdhb4 G T 18: 37,442,423 (GRCm39) probably null Het
Pdcd4 G T 19: 53,917,525 (GRCm39) R454L probably damaging Het
Phf8-ps T C 17: 33,284,263 (GRCm39) I846M probably benign Het
Pkd1l2 A G 8: 117,771,231 (GRCm39) I1116T probably damaging Het
Plcb2 A G 2: 118,555,586 (GRCm39) probably benign Het
Pmpca T C 2: 26,283,230 (GRCm39) probably benign Het
Pnpla7 T A 2: 24,887,252 (GRCm39) I32N probably damaging Het
Prpf8 A G 11: 75,384,775 (GRCm39) K718E probably damaging Het
Racgap1 C T 15: 99,524,411 (GRCm39) A359T probably benign Het
Rgs3 G A 4: 62,523,798 (GRCm39) probably null Het
Rhpn1 A G 15: 75,583,503 (GRCm39) E356G probably damaging Het
Rps6ka5 T C 12: 100,540,697 (GRCm39) H488R possibly damaging Het
Scn11a A G 9: 119,632,396 (GRCm39) probably null Het
Sema4f A T 6: 82,912,948 (GRCm39) probably benign Het
Serpina1f A G 12: 103,660,094 (GRCm39) S63P probably damaging Het
Slc9a3 T C 13: 74,307,365 (GRCm39) W386R probably damaging Het
Slc9b1 A C 3: 135,100,651 (GRCm39) L465F probably benign Het
Smc5 A G 19: 23,241,017 (GRCm39) V165A possibly damaging Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tinagl1 G T 4: 130,067,816 (GRCm39) D59E probably damaging Het
Tns3 A G 11: 8,443,302 (GRCm39) Y354H probably damaging Het
Trappc9 C T 15: 72,461,956 (GRCm39) G1103D probably damaging Het
Unc79 A T 12: 102,957,687 (GRCm39) D34V probably damaging Het
Unc80 T C 1: 66,560,645 (GRCm39) L791P probably damaging Het
Unc93a2 A G 17: 7,641,926 (GRCm39) L174P probably damaging Het
Xpo7 G T 14: 70,903,537 (GRCm39) probably benign Het
Zbtb1 T A 12: 76,432,113 (GRCm39) I33N 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
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
Predicted Primers PCR Primer
(F):5'- TGCTACTCCCTGAGCACACCTAAAG -3'
(R):5'- AGGTCCTAGAAAAGCCTCCGTCAC -3'

Sequencing Primer
(F):5'- CTCATGCAAGACTTACAGAGTTGG -3'
(R):5'- CCAAAGGAATCTCCTCATTTTTATCG -3'
Posted On 2013-11-08