Incidental Mutation 'R3902:Jph3'
| ID |
309241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jph3
|
| Ensembl Gene |
ENSMUSG00000025318 |
| Gene Name |
junctophilin 3 |
| Synonyms |
JP-3 |
| MMRRC Submission |
040811-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R3902 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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. 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atmin |
A |
G |
8: 117,683,036 (GRCm39) |
N232S |
probably benign |
Het |
| Brat1 |
A |
C |
5: 140,703,751 (GRCm39) |
D668A |
possibly damaging |
Het |
| Eif2b3 |
C |
T |
4: 116,879,404 (GRCm39) |
R15W |
probably damaging |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| F5 |
A |
G |
1: 164,003,798 (GRCm39) |
T198A |
probably benign |
Het |
| Fbxl20 |
T |
A |
11: 97,987,861 (GRCm39) |
T61S |
probably benign |
Het |
| Fry |
A |
G |
5: 150,269,392 (GRCm39) |
E211G |
probably damaging |
Het |
| Gatd1 |
A |
G |
7: 140,989,014 (GRCm39) |
L215P |
probably damaging |
Het |
| Gys2 |
A |
G |
6: 142,418,526 (GRCm39) |
M1T |
probably null |
Het |
| Hacd4 |
A |
C |
4: 88,355,738 (GRCm39) |
I49R |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,905,016 (GRCm39) |
D217G |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,706,640 (GRCm39) |
N1401S |
probably benign |
Het |
| Mettl21a |
C |
T |
1: 64,647,240 (GRCm39) |
V106I |
probably benign |
Het |
| Mpdz |
A |
G |
4: 81,225,353 (GRCm39) |
V1427A |
probably damaging |
Het |
| Mug2 |
A |
T |
6: 122,052,526 (GRCm39) |
D1024V |
probably damaging |
Het |
| Myl7 |
T |
A |
11: 5,848,430 (GRCm39) |
K38M |
probably damaging |
Het |
| Myl7 |
T |
G |
11: 5,848,431 (GRCm39) |
K38Q |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,154,165 (GRCm39) |
V701A |
probably benign |
Het |
| Nipbl |
A |
G |
15: 8,379,730 (GRCm39) |
S1021P |
possibly damaging |
Het |
| Optc |
A |
G |
1: 133,825,701 (GRCm39) |
M275T |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,762,536 (GRCm39) |
T385S |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,353,169 (GRCm39) |
N986K |
probably benign |
Het |
| Pira1 |
G |
A |
7: 3,740,276 (GRCm39) |
T315I |
probably damaging |
Het |
| Plekhn1 |
T |
A |
4: 156,310,126 (GRCm39) |
I63F |
possibly damaging |
Het |
| Pogk |
C |
T |
1: 166,231,193 (GRCm39) |
V45I |
probably damaging |
Het |
| Rassf1 |
A |
G |
9: 107,432,039 (GRCm39) |
Y21C |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,030,113 (GRCm39) |
I562F |
probably damaging |
Het |
| Slc16a6 |
A |
G |
11: 109,349,387 (GRCm39) |
S141P |
probably damaging |
Het |
| Sntn |
T |
C |
14: 13,679,084 (GRCm38) |
L86P |
probably damaging |
Het |
| Styx-ps |
A |
G |
X: 67,865,253 (GRCm39) |
M101V |
probably benign |
Het |
| Taar4 |
T |
A |
10: 23,836,913 (GRCm39) |
N174K |
probably damaging |
Het |
| Trav12-3 |
G |
T |
14: 53,859,486 (GRCm39) |
C44F |
probably damaging |
Het |
| Triml2 |
A |
G |
8: 43,643,397 (GRCm39) |
R240G |
probably benign |
Het |
| Vmn1r3 |
A |
G |
4: 3,185,241 (GRCm39) |
M22T |
probably benign |
Het |
| Vmn2r7 |
C |
A |
3: 64,626,937 (GRCm39) |
Q26H |
possibly damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,398,943 (GRCm39) |
D470G |
possibly damaging |
Het |
| Xpo6 |
A |
G |
7: 125,719,581 (GRCm39) |
Y602H |
probably damaging |
Het |
| Zfp287 |
T |
C |
11: 62,603,028 (GRCm39) |
T241A |
probably benign |
Het |
| Zfp386 |
A |
G |
12: 116,023,775 (GRCm39) |
K498E |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,799,326 (GRCm39) |
L2392P |
probably damaging |
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 |
|
R3901: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'- TCGGAGATCCTCAAGAGCAAG -3'
(R):5'- CAGCGGGATGAGATTCTTGC -3'
Sequencing Primer
(F):5'- AGAAGGGACTGTTCCGGC -3'
(R):5'- CGTTTGCCGCTCACGAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation