Incidental Mutation 'R3901:Jph3'
| ID |
308981 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jph3
|
| Ensembl Gene |
ENSMUSG00000025318 |
| Gene Name |
junctophilin 3 |
| Synonyms |
JP-3 |
| MMRRC Submission |
040810-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
R3901 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
122457298-122517822 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 122480158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 279
(D279Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026357]
[ENSMUST00000127664]
[ENSMUST00000167439]
|
| AlphaFold |
Q9ET77 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026357
AA Change: D279Y
PolyPhen 2
Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000026357
Gene: ENSMUSG00000025318
AA Change: D279Y
| Domain | Start | End | E-Value | Type |
|---|
|
MORN
|
13 |
34 |
8.01e-1 |
SMART |
|
MORN
|
37 |
57 |
6.13e1 |
SMART |
|
MORN
|
59 |
80 |
2.99e-1 |
SMART |
|
Pfam:MORN
|
83 |
104 |
5.9e-2 |
PFAM |
|
MORN
|
105 |
126 |
8.1e-5 |
SMART |
|
MORN
|
128 |
149 |
2.74e-2 |
SMART |
|
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
244 |
N/A |
INTRINSIC |
|
MORN
|
286 |
307 |
2.78e-3 |
SMART |
|
MORN
|
309 |
330 |
1.03e-6 |
SMART |
|
low complexity region
|
360 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
409 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
494 |
N/A |
INTRINSIC |
|
transmembrane domain
|
721 |
743 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167439
AA Change: D279Y
PolyPhen 2
Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126190
Gene: ENSMUSG00000025318
AA Change: D279Y
| Domain | Start | End | E-Value | Type |
|---|
|
MORN
|
13 |
34 |
8.01e-1 |
SMART |
|
MORN
|
37 |
57 |
6.13e1 |
SMART |
|
MORN
|
59 |
80 |
2.99e-1 |
SMART |
|
Pfam:MORN
|
83 |
104 |
5.8e-2 |
PFAM |
|
MORN
|
105 |
126 |
8.1e-5 |
SMART |
|
MORN
|
128 |
149 |
2.74e-2 |
SMART |
|
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
244 |
N/A |
INTRINSIC |
|
MORN
|
286 |
307 |
2.78e-3 |
SMART |
|
MORN
|
309 |
330 |
1.03e-6 |
SMART |
|
low complexity region
|
360 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
409 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
494 |
N/A |
INTRINSIC |
|
transmembrane domain
|
721 |
743 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169735
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172209
|
| Meta Mutation Damage Score |
0.3025 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
98% (39/40) |
| 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. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired balance and motor coordination. [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 |
|---|
| Adamts20 |
T |
A |
15: 94,226,726 (GRCm39) |
D1109V |
possibly damaging |
Het |
| Apc2 |
G |
C |
10: 80,150,922 (GRCm39) |
R1992P |
possibly damaging |
Het |
| Atmin |
A |
G |
8: 117,683,036 (GRCm39) |
N232S |
probably benign |
Het |
| Brat1 |
A |
C |
5: 140,703,751 (GRCm39) |
D668A |
possibly damaging |
Het |
| Casp16 |
A |
T |
17: 23,771,922 (GRCm39) |
V101E |
probably damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Clec7a |
A |
G |
6: 129,445,877 (GRCm39) |
S98P |
possibly damaging |
Het |
| Cpne5 |
G |
A |
17: 29,378,082 (GRCm39) |
R566C |
unknown |
Het |
| Csrnp1 |
C |
T |
9: 119,801,707 (GRCm39) |
E451K |
probably damaging |
Het |
| Dlst |
A |
G |
12: 85,179,465 (GRCm39) |
T435A |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,078,269 (GRCm39) |
T525A |
possibly damaging |
Het |
| Dync2li1 |
A |
G |
17: 84,939,070 (GRCm39) |
T45A |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,974,713 (GRCm39) |
N5307S |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,357,539 (GRCm39) |
Y820H |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,003,798 (GRCm39) |
T198A |
probably benign |
Het |
| Fbn2 |
T |
A |
18: 58,199,083 (GRCm39) |
N1395I |
probably damaging |
Het |
| Fcnb |
T |
A |
2: 27,969,208 (GRCm39) |
Y163F |
probably damaging |
Het |
| Gm5444 |
T |
C |
13: 4,884,278 (GRCm39) |
|
noncoding transcript |
Het |
| Kcnj3 |
A |
G |
2: 55,327,360 (GRCm39) |
N50D |
possibly damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,555,323 (GRCm39) |
I416T |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Kmt2e |
A |
G |
5: 23,706,640 (GRCm39) |
N1401S |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,824,144 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,712,707 (GRCm39) |
V3095A |
probably damaging |
Het |
| Mmp1a |
A |
G |
9: 7,475,346 (GRCm39) |
*372W |
probably null |
Het |
| Or7d11 |
C |
T |
9: 19,966,169 (GRCm39) |
V197I |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,353,169 (GRCm39) |
N986K |
probably benign |
Het |
| Pgap1 |
C |
T |
1: 54,532,507 (GRCm39) |
V671I |
probably benign |
Het |
| Pla2g4e |
T |
C |
2: 119,999,085 (GRCm39) |
S760G |
probably benign |
Het |
| Plk3 |
T |
C |
4: 116,990,633 (GRCm39) |
I94V |
probably benign |
Het |
| Pogk |
C |
T |
1: 166,231,193 (GRCm39) |
V45I |
probably damaging |
Het |
| Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
| Rims1 |
T |
A |
1: 22,572,578 (GRCm39) |
Q541L |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,305,664 (GRCm39) |
Q999R |
probably benign |
Het |
| Stxbp5 |
A |
G |
10: 9,645,163 (GRCm39) |
L911P |
probably damaging |
Het |
| Tgfbr3 |
A |
G |
5: 107,362,753 (GRCm39) |
|
probably benign |
Het |
| Trim7 |
A |
T |
11: 48,728,435 (GRCm39) |
T28S |
probably damaging |
Het |
| Zfp595 |
T |
C |
13: 67,465,379 (GRCm39) |
I295V |
probably benign |
Het |
|
| Other mutations in Jph3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02976:Jph3
|
APN |
8 |
122,479,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0142:Jph3
|
UTSW |
8 |
122,480,110 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0200:Jph3
|
UTSW |
8 |
122,511,572 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0238:Jph3
|
UTSW |
8 |
122,480,459 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0238:Jph3
|
UTSW |
8 |
122,480,459 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1550:Jph3
|
UTSW |
8 |
122,511,598 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2127:Jph3
|
UTSW |
8 |
122,511,881 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2160:Jph3
|
UTSW |
8 |
122,479,970 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3902:Jph3
|
UTSW |
8 |
122,480,158 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5126:Jph3
|
UTSW |
8 |
122,479,787 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6073:Jph3
|
UTSW |
8 |
122,480,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6130:Jph3
|
UTSW |
8 |
122,479,826 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6794:Jph3
|
UTSW |
8 |
122,512,124 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6923:Jph3
|
UTSW |
8 |
122,480,110 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7337:Jph3
|
UTSW |
8 |
122,480,441 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7897:Jph3
|
UTSW |
8 |
122,516,136 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8041:Jph3
|
UTSW |
8 |
122,516,201 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8901:Jph3
|
UTSW |
8 |
122,457,561 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9110:Jph3
|
UTSW |
8 |
122,516,201 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9401:Jph3
|
UTSW |
8 |
122,511,854 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9689:Jph3
|
UTSW |
8 |
122,480,377 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9705:Jph3
|
UTSW |
8 |
122,508,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9781:Jph3
|
UTSW |
8 |
122,457,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCGGAGATCCTCAAGAGCAAG -3'
(R):5'- AGCGGGATGAGATTCTTGCG -3'
Sequencing Primer
(F):5'- AGAAGGGACTGTTCCGGC -3'
(R):5'- CGTTTGCCGCTCACGAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation