Incidental Mutation 'IGL02707:Jph1'
| ID |
304396 |
| 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 # |
IGL02707
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
17034784-17168113 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17074675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 448
(S448P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038382]
|
| AlphaFold |
Q9ET80 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038382
AA Change: S448P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039072
Gene: ENSMUSG00000042686
AA Change: S448P
| 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
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
T |
C |
9: 57,165,928 (GRCm39) |
T149A |
probably benign |
Het |
| 4932414N04Rik |
A |
C |
2: 68,561,474 (GRCm39) |
Q267P |
possibly damaging |
Het |
| Actr5 |
T |
C |
2: 158,478,617 (GRCm39) |
V489A |
probably benign |
Het |
| Adam26b |
T |
C |
8: 43,972,895 (GRCm39) |
|
probably benign |
Het |
| Aff4 |
A |
G |
11: 53,290,567 (GRCm39) |
N509S |
probably benign |
Het |
| Arhgap22 |
C |
T |
14: 33,085,229 (GRCm39) |
|
probably benign |
Het |
| Arhgap9 |
C |
A |
10: 127,165,476 (GRCm39) |
H628Q |
probably damaging |
Het |
| Asap1 |
A |
T |
15: 64,001,123 (GRCm39) |
I486N |
probably damaging |
Het |
| Asb15 |
A |
T |
6: 24,558,787 (GRCm39) |
|
probably benign |
Het |
| Avil |
A |
G |
10: 126,842,431 (GRCm39) |
D70G |
probably damaging |
Het |
| Cct6b |
T |
C |
11: 82,645,780 (GRCm39) |
|
probably benign |
Het |
| Cep63 |
A |
T |
9: 102,464,180 (GRCm39) |
I717K |
probably damaging |
Het |
| Chd4 |
G |
T |
6: 125,085,730 (GRCm39) |
A875S |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,471,237 (GRCm39) |
M706K |
unknown |
Het |
| Cr1l |
T |
C |
1: 194,806,019 (GRCm39) |
T155A |
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 63,339,844 (GRCm39) |
N10S |
probably benign |
Het |
| Cubn |
A |
G |
2: 13,450,843 (GRCm39) |
V854A |
probably damaging |
Het |
| Dgkh |
T |
C |
14: 78,823,091 (GRCm39) |
T845A |
possibly damaging |
Het |
| F10 |
G |
A |
8: 13,098,252 (GRCm39) |
A152T |
probably damaging |
Het |
| Gabrg3 |
C |
A |
7: 56,632,439 (GRCm39) |
E170* |
probably null |
Het |
| Heatr5a |
A |
G |
12: 51,968,149 (GRCm39) |
V829A |
probably benign |
Het |
| Htt |
T |
A |
5: 34,987,225 (GRCm39) |
|
probably null |
Het |
| Icam4 |
T |
C |
9: 20,941,770 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Kansl1l |
G |
A |
1: 66,812,604 (GRCm39) |
L125F |
probably damaging |
Het |
| Kifc1 |
A |
T |
17: 34,100,467 (GRCm39) |
C46* |
probably null |
Het |
| Lce3b |
A |
G |
3: 92,841,193 (GRCm39) |
D96G |
unknown |
Het |
| Mab21l1 |
A |
T |
3: 55,690,505 (GRCm39) |
I31F |
possibly damaging |
Het |
| Mctp2 |
A |
G |
7: 71,909,089 (GRCm39) |
Y75H |
possibly damaging |
Het |
| Mesp2 |
A |
G |
7: 79,461,274 (GRCm39) |
I200V |
probably benign |
Het |
| Msr1 |
T |
C |
8: 40,085,870 (GRCm39) |
|
probably benign |
Het |
| Mtfr2 |
C |
T |
10: 20,224,084 (GRCm39) |
T6I |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,828,438 (GRCm39) |
|
probably benign |
Het |
| Myoc |
T |
A |
1: 162,467,029 (GRCm39) |
I66N |
probably benign |
Het |
| Or10d1b |
T |
C |
9: 39,613,937 (GRCm39) |
I43V |
probably damaging |
Het |
| Or4a70 |
A |
T |
2: 89,324,171 (GRCm39) |
Y162N |
probably damaging |
Het |
| Or51k1 |
A |
C |
7: 103,661,609 (GRCm39) |
L100W |
probably damaging |
Het |
| Or52n20 |
T |
C |
7: 104,320,136 (GRCm39) |
C76R |
probably damaging |
Het |
| Or52n2b |
A |
G |
7: 104,565,859 (GRCm39) |
C215R |
probably damaging |
Het |
| Or7a39 |
T |
C |
10: 78,715,759 (GRCm39) |
L251S |
probably damaging |
Het |
| Per2 |
T |
C |
1: 91,378,450 (GRCm39) |
D33G |
possibly damaging |
Het |
| Pknox1 |
A |
G |
17: 31,821,793 (GRCm39) |
I295V |
possibly damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Rhot2 |
A |
G |
17: 26,063,270 (GRCm39) |
S19P |
probably damaging |
Het |
| Rps6kb1 |
C |
A |
11: 86,426,236 (GRCm39) |
|
probably null |
Het |
| Serpinb1b |
C |
T |
13: 33,275,648 (GRCm39) |
T194I |
probably benign |
Het |
| Smarcad1 |
T |
A |
6: 65,029,790 (GRCm39) |
|
probably benign |
Het |
| Stxbp4 |
A |
G |
11: 90,428,759 (GRCm39) |
S449P |
probably benign |
Het |
| Thrb |
A |
C |
14: 18,026,721 (GRCm38) |
I275L |
probably benign |
Het |
| Tjp1 |
T |
A |
7: 64,979,431 (GRCm39) |
K365* |
probably null |
Het |
| Tjp1 |
T |
A |
7: 64,979,430 (GRCm39) |
K365I |
possibly damaging |
Het |
| Tm4sf4 |
C |
A |
3: 57,333,939 (GRCm39) |
C75* |
probably null |
Het |
| Tmem131 |
T |
C |
1: 36,864,560 (GRCm39) |
T558A |
probably benign |
Het |
| Txndc16 |
T |
C |
14: 45,399,730 (GRCm39) |
T408A |
probably benign |
Het |
| Ube2j1 |
T |
C |
4: 33,038,206 (GRCm39) |
L38P |
possibly damaging |
Het |
| Urb2 |
T |
C |
8: 124,757,425 (GRCm39) |
I1044T |
probably benign |
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 |
|
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