Incidental Mutation 'R6380:Jph1'
| ID |
515243 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jph1
|
| Ensembl Gene |
ENSMUSG00000042686 |
| Gene Name |
junctophilin 1 |
| Synonyms |
JP-1, ENSMUSG00000054314, mitsugumin72 |
| MMRRC Submission |
044529-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.701)
|
| Stock # |
R6380 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
17034784-17168113 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17162071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 197
(N197S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038382]
|
| AlphaFold |
Q9ET80 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038382
AA Change: N197S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039072
Gene: ENSMUSG00000042686
AA Change: N197S
| 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
|
| Meta Mutation Damage Score |
0.0791 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.5%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
G |
A |
6: 91,900,118 (GRCm39) |
G424D |
probably damaging |
Het |
| Aco1 |
T |
C |
4: 40,185,028 (GRCm39) |
V566A |
probably benign |
Het |
| Adat1 |
G |
T |
8: 112,704,704 (GRCm39) |
T414K |
probably benign |
Het |
| Alox12e |
A |
G |
11: 70,211,927 (GRCm39) |
V194A |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,491,644 (GRCm39) |
V119A |
probably benign |
Het |
| Atat1 |
C |
A |
17: 36,219,849 (GRCm39) |
|
probably null |
Het |
| Atp10a |
G |
A |
7: 58,469,432 (GRCm39) |
W1094* |
probably null |
Het |
| Bcl11b |
T |
C |
12: 107,969,360 (GRCm39) |
R15G |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,087,456 (GRCm39) |
D4019G |
probably benign |
Het |
| Btnl1 |
A |
G |
17: 34,598,468 (GRCm39) |
E28G |
probably benign |
Het |
| Ccnd1 |
A |
G |
7: 144,493,306 (GRCm39) |
V42A |
probably benign |
Het |
| Cdyl2 |
T |
A |
8: 117,309,923 (GRCm39) |
K344N |
probably damaging |
Het |
| Cep68 |
A |
G |
11: 20,180,498 (GRCm39) |
M711T |
probably benign |
Het |
| Cyp2j7 |
A |
G |
4: 96,118,211 (GRCm39) |
|
probably null |
Het |
| Cyp3a25 |
A |
T |
5: 145,935,357 (GRCm39) |
D86E |
probably damaging |
Het |
| Dclk1 |
G |
T |
3: 55,154,615 (GRCm39) |
R15L |
probably damaging |
Het |
| Dpy19l1 |
T |
A |
9: 24,393,341 (GRCm39) |
K143* |
probably null |
Het |
| Duox2 |
A |
G |
2: 122,111,483 (GRCm39) |
V1405A |
probably benign |
Het |
| Filip1 |
T |
C |
9: 79,726,906 (GRCm39) |
E571G |
probably damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,437,322 (GRCm39) |
L535S |
probably damaging |
Het |
| Lepr |
C |
A |
4: 101,622,151 (GRCm39) |
S361* |
probably null |
Het |
| Lfng |
T |
A |
5: 140,600,151 (GRCm39) |
|
probably null |
Het |
| Lpcat2 |
G |
A |
8: 93,613,209 (GRCm39) |
A250T |
probably benign |
Het |
| Mab21l4 |
G |
A |
1: 93,088,613 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
A |
T |
17: 12,490,954 (GRCm39) |
M159K |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,363,533 (GRCm39) |
C1177S |
probably damaging |
Het |
| Olfml2b |
C |
T |
1: 170,496,800 (GRCm39) |
P477L |
probably benign |
Het |
| Or51a5 |
A |
T |
7: 102,771,136 (GRCm39) |
F281Y |
probably benign |
Het |
| Or5k16 |
T |
A |
16: 58,736,627 (GRCm39) |
I126L |
probably damaging |
Het |
| Or6c33 |
A |
T |
10: 129,853,782 (GRCm39) |
H184L |
probably benign |
Het |
| Pald1 |
G |
T |
10: 61,186,714 (GRCm39) |
F146L |
possibly damaging |
Het |
| Pcdhga1 |
A |
G |
18: 37,796,022 (GRCm39) |
D342G |
probably damaging |
Het |
| Plcb2 |
T |
C |
2: 118,545,949 (GRCm39) |
S579G |
probably damaging |
Het |
| Prdm16 |
A |
T |
4: 154,425,824 (GRCm39) |
S654T |
probably benign |
Het |
| Rab3gap2 |
C |
A |
1: 184,968,181 (GRCm39) |
L178I |
probably damaging |
Het |
| Rbfox1 |
C |
T |
16: 7,042,214 (GRCm39) |
Q23* |
probably null |
Het |
| Slc14a2 |
T |
G |
18: 78,190,190 (GRCm39) |
T920P |
probably benign |
Het |
| Slc17a6 |
G |
A |
7: 51,317,211 (GRCm39) |
V411M |
probably benign |
Het |
| Stard6 |
G |
A |
18: 70,609,459 (GRCm39) |
V33I |
probably benign |
Het |
| Syce1 |
A |
T |
7: 140,358,978 (GRCm39) |
H178Q |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 76,151,754 (GRCm39) |
F1872I |
probably damaging |
Het |
| Tor1aip1 |
T |
C |
1: 155,894,234 (GRCm39) |
E274G |
possibly damaging |
Het |
| Trpm1 |
A |
T |
7: 63,918,045 (GRCm39) |
T462S |
probably benign |
Het |
| Ugt3a1 |
C |
T |
15: 9,306,541 (GRCm39) |
A230V |
probably benign |
Het |
| Vmn1r178 |
A |
G |
7: 23,592,984 (GRCm39) |
T11A |
possibly damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,061,067 (GRCm39) |
N172K |
probably benign |
Het |
| Whrn |
G |
T |
4: 63,336,829 (GRCm39) |
P136T |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,478,170 (GRCm39) |
N3570S |
probably damaging |
Het |
| Zfp689 |
A |
G |
7: 127,043,968 (GRCm39) |
S221P |
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 |
|
|
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 |
|
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'- GGCATCGCTAGAACTGATTCTGC -3'
(R):5'- TGGTCCCTGAAGACTCACAC -3'
Sequencing Primer
(F):5'- AGAACTGATTCTGCTCATGGC -3'
(R):5'- GGTCCCTGAAGACTCACACTATGTTG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation