Incidental Mutation 'IGL02450:Jph1'
| ID |
294123 |
| 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)
|
| Stock # |
IGL02450
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
17034784-17168113 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 17074201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 606
(P606S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038382]
|
| AlphaFold |
Q9ET80 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038382
AA Change: P606S
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000039072
Gene: ENSMUSG00000042686
AA Change: P606S
| 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 |
unknown
Transcript: ENSMUST00000186024
AA Change: P81S
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
A |
G |
15: 81,798,963 (GRCm39) |
*781W |
probably null |
Het |
| Adamts16 |
C |
A |
13: 70,984,419 (GRCm39) |
R81S |
probably damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,546,855 (GRCm39) |
D386G |
probably benign |
Het |
| Anxa6 |
G |
A |
11: 54,885,767 (GRCm39) |
R393W |
probably damaging |
Het |
| Bdnf |
G |
A |
2: 109,553,949 (GRCm39) |
V108I |
possibly damaging |
Het |
| Bpgm |
C |
T |
6: 34,464,399 (GRCm39) |
R39W |
probably damaging |
Het |
| Cd101 |
T |
C |
3: 100,901,054 (GRCm39) |
E1006G |
probably damaging |
Het |
| Cd109 |
A |
T |
9: 78,603,132 (GRCm39) |
E972V |
possibly damaging |
Het |
| Cdhr3 |
T |
A |
12: 33,132,224 (GRCm39) |
Q133L |
probably benign |
Het |
| Cdk5r1 |
C |
T |
11: 80,368,666 (GRCm39) |
A111V |
probably benign |
Het |
| Cnga4 |
A |
T |
7: 105,054,955 (GRCm39) |
I77F |
probably damaging |
Het |
| Egfem1 |
G |
A |
3: 29,711,417 (GRCm39) |
|
probably null |
Het |
| Fbxl21 |
T |
A |
13: 56,674,766 (GRCm39) |
V39D |
possibly damaging |
Het |
| Gimap6 |
T |
C |
6: 48,681,351 (GRCm39) |
I94M |
probably benign |
Het |
| Glis1 |
T |
C |
4: 107,484,726 (GRCm39) |
V407A |
probably benign |
Het |
| Gm5784 |
C |
T |
12: 19,437,970 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9839 |
A |
T |
1: 32,559,964 (GRCm39) |
|
probably benign |
Het |
| Heatr5a |
T |
A |
12: 51,992,213 (GRCm39) |
M566L |
probably benign |
Het |
| Jup |
C |
T |
11: 100,269,183 (GRCm39) |
C410Y |
probably damaging |
Het |
| Kif23 |
A |
G |
9: 61,831,239 (GRCm39) |
M777T |
probably benign |
Het |
| Lifr |
G |
T |
15: 7,220,246 (GRCm39) |
D959Y |
probably damaging |
Het |
| Lsm1 |
C |
A |
8: 26,283,806 (GRCm39) |
L73I |
possibly damaging |
Het |
| Maneal |
G |
A |
4: 124,750,928 (GRCm39) |
A276V |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,142,635 (GRCm39) |
D932G |
probably damaging |
Het |
| Nipbl |
C |
T |
15: 8,373,058 (GRCm39) |
V1063M |
probably damaging |
Het |
| Nlrx1 |
A |
G |
9: 44,164,798 (GRCm39) |
V882A |
probably benign |
Het |
| Obox6 |
A |
G |
7: 15,567,638 (GRCm39) |
C270R |
probably damaging |
Het |
| Or13a19 |
A |
G |
7: 139,903,140 (GRCm39) |
H176R |
possibly damaging |
Het |
| Pard3b |
A |
G |
1: 62,571,835 (GRCm39) |
I925V |
possibly damaging |
Het |
| Pdhx |
A |
G |
2: 102,872,594 (GRCm39) |
S163P |
probably benign |
Het |
| Pdzrn3 |
T |
C |
6: 101,331,461 (GRCm39) |
D271G |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,075,515 (GRCm39) |
I399T |
probably damaging |
Het |
| Pthlh |
T |
G |
6: 147,158,666 (GRCm39) |
D98A |
possibly damaging |
Het |
| Spata31f3 |
A |
G |
4: 42,874,127 (GRCm39) |
S14P |
probably benign |
Het |
| Spock3 |
T |
A |
8: 63,698,249 (GRCm39) |
|
probably null |
Het |
| Tgtp2 |
C |
T |
11: 48,950,317 (GRCm39) |
G85D |
probably benign |
Het |
| Tmem94 |
A |
G |
11: 115,683,897 (GRCm39) |
D739G |
probably damaging |
Het |
| Washc5 |
G |
A |
15: 59,204,166 (GRCm39) |
R706* |
probably null |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zscan20 |
G |
T |
4: 128,480,450 (GRCm39) |
D680E |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation