Incidental Mutation 'R4906:Jph1'
ID 378147
Institutional Source Beutler Lab
Gene Symbol Jph1
Ensembl Gene ENSMUSG00000042686
Gene Name junctophilin 1
Synonyms JP-1, ENSMUSG00000054314, mitsugumin72
MMRRC Submission 042508-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.701) question?
Stock # R4906 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 17034784-17168113 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17161835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 276 (T276A)
Ref Sequence ENSEMBL: ENSMUSP00000039072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038382]
AlphaFold Q9ET80
Predicted Effect probably damaging
Transcript: ENSMUST00000038382
AA Change: T276A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000039072
Gene: ENSMUSG00000042686
AA Change: T276A

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: 98.9%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.5%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417H12Rik T C 7: 107,223,897 (GRCm39) probably benign Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Adgrf2 T C 17: 43,022,084 (GRCm39) I247V probably benign Het
Adgrv1 A G 13: 81,418,857 (GRCm39) probably null Het
Ankrd22 T A 19: 34,126,752 (GRCm39) K26I possibly damaging Het
Arhgap32 T A 9: 32,156,552 (GRCm39) probably null Het
Armc10 A G 5: 21,866,522 (GRCm39) Y262C probably damaging Het
Arrb2 A G 11: 70,330,725 (GRCm39) D374G probably benign Het
Ascc3 C T 10: 50,625,227 (GRCm39) R1675C probably damaging Het
Atg5 T C 10: 44,239,046 (GRCm39) *276R probably null Het
Bcl11b G A 12: 107,882,968 (GRCm39) T377M probably damaging Het
C1s2 C A 6: 124,612,073 (GRCm39) E104* probably null Het
Carf A T 1: 60,180,526 (GRCm39) H316L probably damaging Het
Ccdc77 A T 6: 120,311,796 (GRCm39) I234N probably damaging Het
Cd300c2 A T 11: 114,887,826 (GRCm39) V192E possibly damaging Het
Cep72 G A 13: 74,207,584 (GRCm39) R62C probably damaging Het
Clasp1 T A 1: 118,436,640 (GRCm39) L308* probably null Het
Clec2g A G 6: 128,956,411 (GRCm39) S25G probably benign Het
Cngb1 T C 8: 95,978,601 (GRCm39) M1046V probably damaging Het
Cobll1 A T 2: 64,928,037 (GRCm39) D1095E probably benign Het
Cpeb2 A G 5: 43,402,005 (GRCm39) H662R possibly damaging Het
Cps1 A T 1: 67,178,922 (GRCm39) T45S probably benign Het
Cspp1 A G 1: 10,152,553 (GRCm39) Q368R possibly damaging Het
Dcaf6 C A 1: 165,239,032 (GRCm39) probably null Het
Dcst1 T C 3: 89,257,814 (GRCm39) Y652C possibly damaging Het
Elf5 T G 2: 103,279,918 (GRCm39) Y225* probably null Het
Ermap A C 4: 119,046,015 (GRCm39) probably benign Het
Fam186b A T 15: 99,169,202 (GRCm39) V915D probably damaging Het
Fbxo34 C A 14: 47,766,911 (GRCm39) N90K probably benign Het
Flnc A G 6: 29,447,524 (GRCm39) E1109G probably damaging Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Gabpb2 A G 3: 95,097,947 (GRCm39) V242A probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm21798 A T 15: 64,689,732 (GRCm39) probably benign Het
Gpr179 A T 11: 97,237,487 (GRCm39) S345T possibly damaging Het
Gusb A T 5: 130,026,959 (GRCm39) F377L probably damaging Het
Hnrnpu T C 1: 178,156,938 (GRCm39) probably benign Het
Htr3b C T 9: 48,848,348 (GRCm39) probably null Het
Iqub A T 6: 24,501,368 (GRCm39) V194D probably damaging Het
Itga2b A G 11: 102,351,985 (GRCm39) V504A probably benign Het
Itga4 T A 2: 79,118,592 (GRCm39) F430L probably damaging Het
Jcad C A 18: 4,673,762 (GRCm39) P508H probably damaging Het
Kansl2 A G 15: 98,429,771 (GRCm39) F87S possibly damaging Het
Kdm1b T C 13: 47,216,620 (GRCm39) probably null Het
Kif5b C T 18: 6,220,930 (GRCm39) D393N probably benign Het
Kmt2d A T 15: 98,747,420 (GRCm39) probably benign Het
Krt75 A G 15: 101,478,674 (GRCm39) I320T probably damaging Het
Lhfpl7 T A 5: 113,386,036 (GRCm39) M161K probably benign Het
Lipo5 T C 19: 33,443,348 (GRCm39) N156S unknown Het
Mblac2 A C 13: 81,859,706 (GRCm39) Q19P probably null Het
Mdfic2 A T 6: 98,215,080 (GRCm39) M181K probably damaging Het
Mfsd4b3-ps T C 10: 39,824,056 (GRCm39) H68R probably damaging Het
Mzb1 A T 18: 35,781,006 (GRCm39) probably null Het
Nup210l T A 3: 90,077,337 (GRCm39) I891N probably benign Het
Nwd1 G A 8: 73,398,841 (GRCm39) R667Q probably damaging Het
Oas1h C T 5: 121,005,172 (GRCm39) Q207* probably null Het
Or13c7d A T 4: 43,770,476 (GRCm39) F178L possibly damaging Het
Pcdh15 C T 10: 74,340,625 (GRCm39) R1120* probably null Het
Pfkl A G 10: 77,824,144 (GRCm39) L748P probably damaging Het
Phldb2 T A 16: 45,571,758 (GRCm39) K473N probably damaging Het
Rapgef6 G A 11: 54,443,662 (GRCm39) V82I probably damaging Het
Rfc3 A T 5: 151,570,960 (GRCm39) L112Q probably damaging Het
Rsph6a T A 7: 18,801,997 (GRCm39) C349S possibly damaging Het
Sec16a A T 2: 26,331,979 (GRCm39) probably benign Het
Septin14 T A 5: 129,770,030 (GRCm39) Y222F probably benign Het
Skor2 T C 18: 76,947,990 (GRCm39) S571P possibly damaging Het
Slc13a5 T A 11: 72,148,244 (GRCm39) M264L probably damaging Het
Slc45a3 T A 1: 131,909,315 (GRCm39) V504E probably damaging Het
Smg1 C T 7: 117,751,631 (GRCm39) probably benign Het
Smim20 A G 5: 53,434,503 (GRCm39) N45S probably null Het
Spp2 A T 1: 88,339,991 (GRCm39) S111C probably damaging Het
Sspo A G 6: 48,442,664 (GRCm39) probably null Het
Sycp2 C T 2: 178,045,450 (GRCm39) probably null Het
Tas2r113 A G 6: 132,870,521 (GRCm39) N183S possibly damaging Het
Tcaf2 A T 6: 42,606,679 (GRCm39) M425K probably benign Het
Tdrp A G 8: 14,003,845 (GRCm39) V164A possibly damaging Het
Tmbim1 A G 1: 74,328,568 (GRCm39) F298S probably damaging Het
Tmem89 A G 9: 108,743,829 (GRCm39) probably benign Het
Trpm2 G T 10: 77,768,023 (GRCm39) C825* probably null Het
Tsc1 A G 2: 28,565,201 (GRCm39) E421G possibly damaging Het
Usp24 T C 4: 106,245,834 (GRCm39) I1364T probably benign Het
Vmn1r52 G A 6: 90,155,930 (GRCm39) G78E possibly damaging Het
Vmn2r73 T G 7: 85,506,829 (GRCm39) I828L probably damaging Het
Vwa5b1 A T 4: 138,338,058 (GRCm39) D87E probably benign Het
Zfp1010 T C 2: 176,957,223 (GRCm39) T92A possibly damaging Het
Zfp451 A T 1: 33,844,465 (GRCm39) D47E probably damaging Het
Zfp821 A G 8: 110,450,841 (GRCm39) E278G probably damaging Het
Zfp930 A T 8: 69,681,597 (GRCm39) T430S probably benign Het
Zfp994 G T 17: 22,419,448 (GRCm39) Y500* probably null Het
Zmat3 A T 3: 32,397,836 (GRCm39) I142N probably damaging Het
Zzef1 T A 11: 72,792,214 (GRCm39) I2266N 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
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
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'- TTCCTTATCCCACGGACCAG -3'
(R):5'- TCAACTTCCATGCGGACAC -3'

Sequencing Primer
(F):5'- CCCACGGACCAGGATATTATTTTTG -3'
(R):5'- AGAAGAAGGGCGGCCTCTTC -3'
Posted On 2016-04-15