Incidental Mutation 'IGL02317:Jph1'
| ID |
288071 |
| 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 # |
IGL02317
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
17034784-17168113 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17074147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 624
(T624A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038382]
|
| AlphaFold |
Q9ET80 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038382
AA Change: T624A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039072
Gene: ENSMUSG00000042686
AA Change: T624A
| 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: T99A
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019M22Rik |
T |
C |
12: 96,013,780 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl2fm3 |
A |
G |
3: 59,784,408 (GRCm39) |
N294D |
probably benign |
Het |
| Aak1 |
C |
T |
6: 86,933,282 (GRCm39) |
P418S |
possibly damaging |
Het |
| Abca5 |
T |
A |
11: 110,218,587 (GRCm39) |
Q93L |
probably benign |
Het |
| Arhgap22 |
G |
T |
14: 33,081,230 (GRCm39) |
V209L |
probably damaging |
Het |
| Atp6v1h |
G |
T |
1: 5,154,693 (GRCm39) |
R7L |
possibly damaging |
Het |
| Ccdc86 |
T |
C |
19: 10,920,556 (GRCm39) |
Q420R |
possibly damaging |
Het |
| Cep85 |
C |
T |
4: 133,883,122 (GRCm39) |
G256R |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,357,520 (GRCm39) |
|
probably benign |
Het |
| Dck |
T |
C |
5: 88,921,942 (GRCm39) |
Y135H |
probably damaging |
Het |
| Dicer1 |
T |
C |
12: 104,663,279 (GRCm39) |
E1434G |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,334,244 (GRCm39) |
T4824I |
probably damaging |
Het |
| Fam20c |
G |
A |
5: 138,792,115 (GRCm39) |
R404H |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,478,855 (GRCm39) |
A2611T |
probably benign |
Het |
| Fbxl13 |
C |
T |
5: 21,727,232 (GRCm39) |
C555Y |
probably benign |
Het |
| Gprc6a |
C |
A |
10: 51,497,049 (GRCm39) |
R323L |
probably benign |
Het |
| Grik2 |
A |
G |
10: 49,298,711 (GRCm39) |
F50L |
probably benign |
Het |
| Ibsp |
A |
G |
5: 104,450,332 (GRCm39) |
Y50C |
probably damaging |
Het |
| Il16 |
T |
A |
7: 83,316,097 (GRCm39) |
H437L |
probably damaging |
Het |
| Irf9 |
G |
A |
14: 55,845,196 (GRCm39) |
R352H |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,833,112 (GRCm39) |
Y1574C |
probably damaging |
Het |
| Lrrc26 |
A |
G |
2: 25,180,314 (GRCm39) |
N105S |
probably damaging |
Het |
| Megf8 |
C |
A |
7: 25,063,213 (GRCm39) |
T2523K |
probably damaging |
Het |
| Nckap1l |
A |
G |
15: 103,370,005 (GRCm39) |
I135V |
probably benign |
Het |
| Oma1 |
A |
G |
4: 103,176,234 (GRCm39) |
|
probably benign |
Het |
| Opa1 |
T |
G |
16: 29,433,984 (GRCm39) |
|
probably null |
Het |
| Or13j1 |
T |
C |
4: 43,706,172 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or5m3b |
T |
C |
2: 85,871,913 (GRCm39) |
S85P |
probably damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Rab11b |
C |
T |
17: 33,968,790 (GRCm39) |
A43T |
probably damaging |
Het |
| Rabl2 |
A |
T |
15: 89,468,492 (GRCm39) |
N133K |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,467,621 (GRCm39) |
V840I |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,865,854 (GRCm39) |
S1001P |
probably damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,415,985 (GRCm39) |
E896G |
probably benign |
Het |
| Ube2o |
T |
C |
11: 116,432,389 (GRCm39) |
E859G |
probably damaging |
Het |
| Vmn1r197 |
A |
G |
13: 22,512,073 (GRCm39) |
|
probably benign |
Het |
| Vmn2r58 |
A |
G |
7: 41,486,765 (GRCm39) |
I710T |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,662,492 (GRCm39) |
T533A |
possibly 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 |
|
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 |
|
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