Incidental Mutation 'R6829:Jph1'
| ID |
534285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jph1
|
| Ensembl Gene |
ENSMUSG00000042686 |
| Gene Name |
junctophilin 1 |
| Synonyms |
JP-1, ENSMUSG00000054314, mitsugumin72 |
| MMRRC Submission |
044939-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.776)
|
| Stock # |
R6829 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
17034784-17168113 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 17074647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 457
(R457L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038382]
|
| AlphaFold |
Q9ET80 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038382
AA Change: R457L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000039072
Gene: ENSMUSG00000042686
AA Change: R457L
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (40/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
T |
14: 66,265,446 (GRCm39) |
|
probably null |
Het |
| Adamts5 |
A |
T |
16: 85,666,959 (GRCm39) |
M511K |
possibly damaging |
Het |
| Adcy9 |
A |
G |
16: 4,125,018 (GRCm39) |
|
probably null |
Het |
| Cast |
T |
C |
13: 74,876,463 (GRCm39) |
E113G |
possibly damaging |
Het |
| Ccdc198 |
A |
G |
14: 49,464,025 (GRCm39) |
*295Q |
probably null |
Het |
| Dcaf1 |
T |
A |
9: 106,715,803 (GRCm39) |
S307T |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,054,091 (GRCm39) |
P2566S |
probably damaging |
Het |
| Elac2 |
A |
G |
11: 64,880,190 (GRCm39) |
E111G |
probably benign |
Het |
| Fbxw4 |
A |
G |
19: 45,624,813 (GRCm39) |
F57S |
possibly damaging |
Het |
| Gm17655 |
T |
G |
5: 110,194,792 (GRCm39) |
H330P |
probably damaging |
Het |
| Gm2a |
T |
C |
11: 54,994,576 (GRCm39) |
|
probably null |
Het |
| Gon4l |
T |
A |
3: 88,787,413 (GRCm39) |
D600E |
possibly damaging |
Het |
| Gsg1l2 |
T |
C |
11: 67,665,684 (GRCm39) |
I84T |
possibly damaging |
Het |
| Igsf9 |
A |
G |
1: 172,323,241 (GRCm39) |
R652G |
probably benign |
Het |
| Il17rd |
C |
T |
14: 26,809,379 (GRCm39) |
R112* |
probably null |
Het |
| Khdrbs3 |
T |
C |
15: 68,964,810 (GRCm39) |
V249A |
possibly damaging |
Het |
| Mocs2 |
A |
G |
13: 114,955,980 (GRCm39) |
S43G |
probably benign |
Het |
| Myom2 |
T |
A |
8: 15,172,643 (GRCm39) |
L1190* |
probably null |
Het |
| Or2w1 |
T |
A |
13: 21,317,023 (GRCm39) |
I26N |
possibly damaging |
Het |
| Or4f62 |
G |
C |
2: 111,986,139 (GRCm39) |
|
probably benign |
Het |
| Or5ac16 |
A |
G |
16: 59,021,898 (GRCm39) |
V297A |
probably damaging |
Het |
| Or8k33 |
A |
T |
2: 86,383,613 (GRCm39) |
L285* |
probably null |
Het |
| Pgc |
A |
T |
17: 48,043,706 (GRCm39) |
|
probably null |
Het |
| Plch1 |
T |
G |
3: 63,604,939 (GRCm39) |
D1655A |
probably damaging |
Het |
| Pnliprp2 |
G |
A |
19: 58,748,305 (GRCm39) |
G29R |
probably benign |
Het |
| Polg |
A |
G |
7: 79,109,857 (GRCm39) |
V382A |
probably benign |
Het |
| Rb1cc1 |
T |
C |
1: 6,319,488 (GRCm39) |
I969T |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sdf2l1 |
C |
G |
16: 16,950,158 (GRCm39) |
R6P |
probably benign |
Het |
| Sema7a |
A |
G |
9: 57,868,181 (GRCm39) |
E538G |
probably benign |
Het |
| Slc2a2 |
C |
T |
3: 28,781,590 (GRCm39) |
Q513* |
probably null |
Het |
| Slc4a8 |
A |
G |
15: 100,698,419 (GRCm39) |
Y636C |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,164,438 (GRCm39) |
D248G |
possibly damaging |
Het |
| Trpm5 |
A |
G |
7: 142,623,166 (GRCm39) |
|
probably benign |
Het |
| Vmn1r14 |
T |
C |
6: 57,210,536 (GRCm39) |
L38P |
probably benign |
Het |
| Washc4 |
T |
C |
10: 83,396,380 (GRCm39) |
S397P |
probably damaging |
Het |
| Wfdc3 |
C |
T |
2: 164,576,178 (GRCm39) |
G38R |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,414,540 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 109,676,915 (GRCm39) |
T2655M |
probably damaging |
Het |
|
| Other mutations in Jph1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- GGAGCCTTTGACATAGAGGG -3'
(R):5'- AAGTCTCTTCAAAGTGGGGAGG -3'
Sequencing Primer
(F):5'- CCTTTGACATAGAGGGTTTATTGAC -3'
(R):5'- GGGAGGGAACTGATCTCATTTAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation