Incidental Mutation 'R8182:Jph4'
ID |
634695 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Jph4
|
Ensembl Gene |
ENSMUSG00000022208 |
Gene Name |
junctophilin 4 |
Synonyms |
JP-4, 9330157P13Rik, JPHL1 |
MMRRC Submission |
067606-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.241)
|
Stock # |
R8182 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
55344283-55354392 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 55347213 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 445
(G445R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022819
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022819]
[ENSMUST00000036041]
[ENSMUST00000124493]
[ENSMUST00000127870]
[ENSMUST00000131323]
[ENSMUST00000151314]
[ENSMUST00000170285]
|
AlphaFold |
Q80WT0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022819
AA Change: G445R
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000022819 Gene: ENSMUSG00000022208 AA Change: G445R
Domain | Start | End | E-Value | Type |
MORN
|
13 |
34 |
1.63e0 |
SMART |
MORN
|
59 |
80 |
1.62e-1 |
SMART |
MORN
|
104 |
125 |
4.76e-2 |
SMART |
MORN
|
127 |
148 |
5.26e-4 |
SMART |
low complexity region
|
170 |
180 |
N/A |
INTRINSIC |
low complexity region
|
216 |
246 |
N/A |
INTRINSIC |
MORN
|
280 |
301 |
1.37e-2 |
SMART |
MORN
|
303 |
324 |
3.29e-5 |
SMART |
low complexity region
|
367 |
406 |
N/A |
INTRINSIC |
low complexity region
|
453 |
467 |
N/A |
INTRINSIC |
low complexity region
|
528 |
553 |
N/A |
INTRINSIC |
low complexity region
|
613 |
627 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000036041
|
SMART Domains |
Protein: ENSMUSP00000043996 Gene: ENSMUSG00000040701
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
24 |
575 |
2.7e-149 |
PFAM |
low complexity region
|
624 |
631 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
668 |
786 |
5.73e-39 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124493
AA Change: G445R
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000121893 Gene: ENSMUSG00000022208 AA Change: G445R
Domain | Start | End | E-Value | Type |
MORN
|
13 |
34 |
1.63e0 |
SMART |
MORN
|
59 |
80 |
1.62e-1 |
SMART |
MORN
|
104 |
125 |
4.76e-2 |
SMART |
MORN
|
127 |
148 |
5.26e-4 |
SMART |
low complexity region
|
170 |
180 |
N/A |
INTRINSIC |
low complexity region
|
216 |
246 |
N/A |
INTRINSIC |
MORN
|
280 |
301 |
1.37e-2 |
SMART |
MORN
|
303 |
324 |
3.29e-5 |
SMART |
low complexity region
|
367 |
406 |
N/A |
INTRINSIC |
low complexity region
|
453 |
467 |
N/A |
INTRINSIC |
low complexity region
|
528 |
553 |
N/A |
INTRINSIC |
low complexity region
|
613 |
627 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127870
|
SMART Domains |
Protein: ENSMUSP00000116698 Gene: ENSMUSG00000040701
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
24 |
197 |
5.7e-57 |
PFAM |
low complexity region
|
222 |
235 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131323
|
SMART Domains |
Protein: ENSMUSP00000115441 Gene: ENSMUSG00000040701
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
24 |
197 |
5.7e-57 |
PFAM |
low complexity region
|
222 |
235 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151314
|
SMART Domains |
Protein: ENSMUSP00000122796 Gene: ENSMUSG00000040701
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
24 |
197 |
5.7e-57 |
PFAM |
low complexity region
|
222 |
235 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170285
|
SMART Domains |
Protein: ENSMUSP00000128427 Gene: ENSMUSG00000040701
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
24 |
575 |
1.5e-149 |
PFAM |
low complexity region
|
624 |
631 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
668 |
786 |
5.73e-39 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
98% (48/49) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprhl1 |
A |
G |
8: 13,272,774 (GRCm39) |
V1328A |
probably benign |
Het |
Akna |
T |
C |
4: 63,313,034 (GRCm39) |
Y363C |
probably damaging |
Het |
Aph1c |
A |
G |
9: 66,740,549 (GRCm39) |
I59T |
possibly damaging |
Het |
Bbs7 |
A |
T |
3: 36,664,372 (GRCm39) |
F100I |
probably damaging |
Het |
Cibar1 |
T |
C |
4: 12,171,842 (GRCm39) |
H30R |
probably benign |
Het |
Eef2k |
G |
A |
7: 120,472,626 (GRCm39) |
R113Q |
probably damaging |
Het |
Fam221b |
G |
A |
4: 43,660,342 (GRCm39) |
R416C |
probably damaging |
Het |
Fam98b |
C |
A |
2: 117,080,302 (GRCm39) |
D18E |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,175,223 (GRCm39) |
Y1830F |
possibly damaging |
Het |
Fbrsl1 |
T |
A |
5: 110,526,861 (GRCm39) |
Q221L |
possibly damaging |
Het |
Fbxo4 |
T |
C |
15: 3,998,451 (GRCm39) |
R336G |
probably damaging |
Het |
Fbxw15 |
A |
T |
9: 109,384,778 (GRCm39) |
C341S |
probably benign |
Het |
Fip1l1 |
T |
C |
5: 74,748,813 (GRCm39) |
S398P |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,806,951 (GRCm39) |
D1090G |
probably damaging |
Het |
Fyb1 |
T |
A |
15: 6,681,293 (GRCm39) |
M706K |
probably benign |
Het |
Glg1 |
A |
T |
8: 111,897,929 (GRCm39) |
F747I |
possibly damaging |
Het |
Gm8257 |
A |
G |
14: 44,887,623 (GRCm39) |
L254P |
probably benign |
Het |
Hnf4g |
T |
C |
3: 3,716,679 (GRCm39) |
Y283H |
possibly damaging |
Het |
Irx6 |
C |
A |
8: 93,403,642 (GRCm39) |
Y122* |
probably null |
Het |
Kif16b |
G |
T |
2: 142,554,819 (GRCm39) |
R660S |
possibly damaging |
Het |
Kif21a |
C |
T |
15: 90,819,964 (GRCm39) |
G1556D |
possibly damaging |
Het |
Kif3a |
T |
A |
11: 53,485,133 (GRCm39) |
Y531* |
probably null |
Het |
Lrp2 |
T |
C |
2: 69,319,673 (GRCm39) |
D1950G |
probably damaging |
Het |
Med23 |
T |
G |
10: 24,788,705 (GRCm39) |
S1371A |
probably benign |
Het |
Mef2a |
T |
A |
7: 66,917,875 (GRCm39) |
E112D |
probably benign |
Het |
Mxra8 |
C |
G |
4: 155,925,589 (GRCm39) |
Y99* |
probably null |
Het |
Nbeal1 |
A |
G |
1: 60,239,292 (GRCm39) |
T112A |
probably benign |
Het |
Or8b49 |
G |
A |
9: 38,505,840 (GRCm39) |
V108I |
probably benign |
Het |
Pclo |
G |
A |
5: 14,905,634 (GRCm39) |
E4955K |
unknown |
Het |
Poc1b |
T |
C |
10: 98,991,005 (GRCm39) |
|
probably null |
Het |
Ptbp2 |
A |
G |
3: 119,534,078 (GRCm39) |
Y264H |
probably damaging |
Het |
Rhobtb2 |
A |
G |
14: 70,034,070 (GRCm39) |
V385A |
probably benign |
Het |
Rlf |
G |
A |
4: 121,008,102 (GRCm39) |
P403S |
possibly damaging |
Het |
Rnase9 |
T |
C |
14: 51,276,537 (GRCm39) |
N147S |
probably benign |
Het |
Serpinb9f |
A |
G |
13: 33,518,603 (GRCm39) |
I368V |
probably benign |
Het |
Slc1a1 |
A |
T |
19: 28,878,848 (GRCm39) |
T196S |
probably benign |
Het |
Smarca2 |
A |
G |
19: 26,608,120 (GRCm39) |
S60G |
probably benign |
Het |
Tbc1d4 |
A |
T |
14: 101,744,990 (GRCm39) |
V212E |
probably damaging |
Het |
Thap12 |
T |
A |
7: 98,365,584 (GRCm39) |
I584N |
probably damaging |
Het |
Ube3b |
T |
A |
5: 114,530,199 (GRCm39) |
N195K |
possibly damaging |
Het |
Upk3b |
T |
C |
5: 136,067,982 (GRCm39) |
C58R |
probably damaging |
Het |
Ush1c |
A |
G |
7: 45,847,775 (GRCm39) |
|
probably null |
Het |
Vmn1r60 |
T |
C |
7: 5,547,876 (GRCm39) |
T75A |
|
Het |
Vmn2r77 |
T |
A |
7: 86,460,801 (GRCm39) |
L709H |
probably damaging |
Het |
Wdcp |
T |
C |
12: 4,901,850 (GRCm39) |
S569P |
probably damaging |
Het |
Zfp418 |
A |
T |
7: 7,184,658 (GRCm39) |
N207I |
probably benign |
Het |
Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
Zfp808 |
G |
A |
13: 62,319,521 (GRCm39) |
C250Y |
probably damaging |
Het |
|
Other mutations in Jph4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0108:Jph4
|
UTSW |
14 |
55,346,757 (GRCm39) |
missense |
probably benign |
0.43 |
R0142:Jph4
|
UTSW |
14 |
55,345,783 (GRCm39) |
missense |
probably benign |
0.23 |
R0332:Jph4
|
UTSW |
14 |
55,351,467 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1610:Jph4
|
UTSW |
14 |
55,351,560 (GRCm39) |
missense |
probably damaging |
0.99 |
R1829:Jph4
|
UTSW |
14 |
55,352,368 (GRCm39) |
missense |
probably damaging |
0.99 |
R1912:Jph4
|
UTSW |
14 |
55,345,818 (GRCm39) |
missense |
probably benign |
0.38 |
R2157:Jph4
|
UTSW |
14 |
55,350,984 (GRCm39) |
missense |
probably benign |
0.01 |
R4073:Jph4
|
UTSW |
14 |
55,352,497 (GRCm39) |
missense |
probably benign |
0.00 |
R4569:Jph4
|
UTSW |
14 |
55,352,503 (GRCm39) |
missense |
probably damaging |
0.96 |
R4796:Jph4
|
UTSW |
14 |
55,347,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R6220:Jph4
|
UTSW |
14 |
55,347,542 (GRCm39) |
missense |
probably benign |
0.05 |
R7188:Jph4
|
UTSW |
14 |
55,352,664 (GRCm39) |
missense |
probably damaging |
0.99 |
R7314:Jph4
|
UTSW |
14 |
55,347,196 (GRCm39) |
unclassified |
probably benign |
|
R7814:Jph4
|
UTSW |
14 |
55,347,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R8874:Jph4
|
UTSW |
14 |
55,351,534 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9308:Jph4
|
UTSW |
14 |
55,346,981 (GRCm39) |
missense |
probably damaging |
1.00 |
R9456:Jph4
|
UTSW |
14 |
55,351,090 (GRCm39) |
missense |
probably damaging |
1.00 |
X0020:Jph4
|
UTSW |
14 |
55,352,428 (GRCm39) |
missense |
probably damaging |
1.00 |
X0061:Jph4
|
UTSW |
14 |
55,351,068 (GRCm39) |
missense |
probably damaging |
1.00 |
X0067:Jph4
|
UTSW |
14 |
55,346,840 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Jph4
|
UTSW |
14 |
55,351,105 (GRCm39) |
missense |
probably benign |
0.04 |
Z1177:Jph4
|
UTSW |
14 |
55,352,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGCCAGCTAGTTCCTCTGC -3'
(R):5'- GGTGTCTTGGAGGTAGAACC -3'
Sequencing Primer
(F):5'- TGCTCACCAGGACCCCC -3'
(R):5'- TTGGAGGTAGAACCAAGGATGTATG -3'
|
Posted On |
2020-07-13 |