Incidental Mutation 'R4565:Jph1'
| ID |
343276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jph1
|
| Ensembl Gene |
ENSMUSG00000042686 |
| Gene Name |
junctophilin 1 |
| Synonyms |
JP-1, ENSMUSG00000054314, mitsugumin72 |
| MMRRC Submission |
041790-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.701)
|
| Stock # |
R4565 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
17034784-17168113 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17074426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 531
(Y531H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038382]
|
| AlphaFold |
Q9ET80 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038382
AA Change: Y531H
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000039072
Gene: ENSMUSG00000042686
AA Change: Y531H
| 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: Y6H
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186604
|
| Meta Mutation Damage Score |
0.0587 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
97% (37/38) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
T |
C |
5: 99,375,806 (GRCm39) |
|
probably benign |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Afg3l1 |
A |
T |
8: 124,228,608 (GRCm39) |
K725* |
probably null |
Het |
| Alkbh1 |
T |
C |
12: 87,478,236 (GRCm39) |
D225G |
probably damaging |
Het |
| Anxa2 |
A |
T |
9: 69,397,019 (GRCm39) |
K241M |
probably damaging |
Het |
| Bptf |
G |
A |
11: 106,963,836 (GRCm39) |
T1786M |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,432,114 (GRCm39) |
E208G |
probably damaging |
Het |
| Dcdc2b |
T |
C |
4: 129,504,778 (GRCm39) |
T118A |
probably benign |
Het |
| Dhx35 |
C |
A |
2: 158,691,455 (GRCm39) |
A646E |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,301,163 (GRCm39) |
D173E |
possibly damaging |
Het |
| Dpy19l1 |
A |
T |
9: 24,343,684 (GRCm39) |
L487Q |
probably null |
Het |
| Gtse1 |
T |
G |
15: 85,759,385 (GRCm39) |
V631G |
probably damaging |
Het |
| Haspin |
G |
A |
11: 73,028,445 (GRCm39) |
L215F |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,803,586 (GRCm39) |
V2207A |
possibly damaging |
Het |
| Limk2 |
A |
G |
11: 3,298,634 (GRCm39) |
I261T |
probably damaging |
Het |
| Oas3 |
A |
G |
5: 120,909,104 (GRCm39) |
F281L |
probably damaging |
Het |
| Or2a25 |
A |
T |
6: 42,888,472 (GRCm39) |
Q5L |
probably benign |
Het |
| Or7a40 |
C |
A |
16: 16,491,557 (GRCm39) |
G96V |
probably damaging |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,523 (GRCm39) |
T438A |
probably benign |
Het |
| Pfdn5 |
T |
C |
15: 102,235,220 (GRCm39) |
|
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,287,680 (GRCm39) |
C158R |
possibly damaging |
Het |
| Rbmxl1 |
G |
A |
8: 79,232,639 (GRCm39) |
P235S |
probably benign |
Het |
| Slc9b1 |
G |
T |
3: 135,088,478 (GRCm39) |
V280F |
probably damaging |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,965,233 (GRCm39) |
I1576T |
probably benign |
Het |
| Trpm6 |
T |
A |
19: 18,803,236 (GRCm39) |
V893D |
probably damaging |
Het |
| Ttc13 |
A |
T |
8: 125,408,826 (GRCm39) |
N583K |
probably damaging |
Het |
| Zfp618 |
T |
C |
4: 63,039,588 (GRCm39) |
C396R |
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 |
|
|
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'- TGGCAACTGGTTTTGTCACAG -3'
(R):5'- TGAGTCAAGTCCCAAACAGAG -3'
Sequencing Primer
(F):5'- GCAACTGGTTTTGTCACAGATTTAG -3'
(R):5'- AGAGCCACTCTCCCCAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation