Incidental Mutation 'R0668:Jph1'
| ID |
62085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jph1
|
| Ensembl Gene |
ENSMUSG00000042686 |
| Gene Name |
junctophilin 1 |
| Synonyms |
JP-1, ENSMUSG00000054314, mitsugumin72 |
| MMRRC Submission |
038853-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.776)
|
| Stock # |
R0668 (G1)
|
| Quality Score |
161 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
17034784-17168113 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 17161895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 256
(T256S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038382]
|
| AlphaFold |
Q9ET80 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038382
AA Change: T256S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039072
Gene: ENSMUSG00000042686
AA Change: T256S
| 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 |
noncoding transcript
Transcript: ENSMUST00000186604
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 91.4%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,302,773 (GRCm39) |
Q2149K |
probably damaging |
Het |
| Aifm1 |
T |
C |
X: 47,583,668 (GRCm39) |
Q210R |
probably benign |
Het |
| Arhgef1 |
A |
G |
7: 24,607,345 (GRCm39) |
N31D |
possibly damaging |
Het |
| Asic5 |
T |
A |
3: 81,928,308 (GRCm39) |
Y424N |
probably damaging |
Het |
| Bltp3a |
A |
T |
17: 28,114,913 (GRCm39) |
I1408F |
probably benign |
Het |
| Cfb |
G |
T |
17: 35,076,079 (GRCm39) |
Q1176K |
probably benign |
Het |
| Chdh |
A |
G |
14: 29,757,837 (GRCm39) |
H447R |
probably damaging |
Het |
| Cpd |
A |
C |
11: 76,675,224 (GRCm39) |
V1299G |
probably damaging |
Het |
| Dnase1l3 |
A |
G |
14: 7,968,086 (GRCm38) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,344,958 (GRCm39) |
T2101A |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,611,318 (GRCm39) |
I387F |
probably benign |
Het |
| Fchsd2 |
A |
G |
7: 100,846,127 (GRCm39) |
K188E |
possibly damaging |
Het |
| Gm10549 |
A |
G |
18: 33,603,903 (GRCm39) |
T129A |
unknown |
Het |
| Kcnma1 |
A |
G |
14: 23,417,563 (GRCm39) |
Y768H |
probably damaging |
Het |
| Lcmt1 |
G |
A |
7: 123,002,094 (GRCm39) |
D120N |
probably damaging |
Het |
| Ly6g6d |
G |
A |
17: 35,290,715 (GRCm39) |
H72Y |
probably damaging |
Het |
| Myom3 |
A |
G |
4: 135,492,237 (GRCm39) |
D127G |
possibly damaging |
Het |
| Or10c1 |
T |
A |
17: 37,522,535 (GRCm39) |
I70F |
probably damaging |
Het |
| Pira13 |
G |
A |
7: 3,825,699 (GRCm39) |
T390I |
probably damaging |
Het |
| Sart1 |
T |
C |
19: 5,434,284 (GRCm39) |
Y249C |
probably damaging |
Het |
| Scin |
A |
G |
12: 40,130,948 (GRCm39) |
Y322H |
probably damaging |
Het |
| Slc44a3 |
T |
C |
3: 121,303,852 (GRCm39) |
T295A |
probably damaging |
Het |
| Slc4a5 |
T |
A |
6: 83,248,054 (GRCm39) |
L535Q |
probably damaging |
Het |
| Them5 |
A |
T |
3: 94,251,720 (GRCm39) |
K110N |
probably benign |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,644 (GRCm39) |
Q44L |
possibly damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,667 (GRCm39) |
M42K |
probably benign |
Het |
| Zfp143 |
A |
T |
7: 109,660,481 (GRCm39) |
|
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 |
|
IGL02707:Jph1
|
APN |
1 |
17,074,675 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCTGCTTCCTTATCCCACGGAC -3'
(R):5'- AACTTCCATGCGGACACGGAAC -3'
Sequencing Primer
(F):5'- CTTCTTTGGAGCCATCAGGAAAC -3'
(R):5'- CGGACACGGAACTGGGC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation