Incidental Mutation 'R7314:Jph4'
ID |
567842 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Jph4
|
Ensembl Gene |
ENSMUSG00000022208 |
Gene Name |
junctophilin 4 |
Synonyms |
JP-4, 9330157P13Rik, JPHL1 |
MMRRC Submission |
045412-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.312)
|
Stock # |
R7314 (G1)
|
Quality Score |
217.468 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
55344283-55354392 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
TCCATTCTCGTATACCCCA to TCCA
at 55347196 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022819]
[ENSMUST00000036041]
[ENSMUST00000124493]
[ENSMUST00000127870]
[ENSMUST00000131323]
[ENSMUST00000151314]
[ENSMUST00000170285]
|
AlphaFold |
Q80WT0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022819
|
SMART Domains |
Protein: ENSMUSP00000022819 Gene: ENSMUSG00000022208
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 |
probably benign
Transcript: ENSMUST00000124493
|
SMART Domains |
Protein: ENSMUSP00000121893 Gene: ENSMUSG00000022208
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (44/44) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020L13Rik |
G |
A |
7: 29,989,320 (GRCm39) |
V177I |
unknown |
Het |
4930596D02Rik |
A |
G |
14: 35,533,606 (GRCm39) |
V54A |
probably benign |
Het |
Abcc10 |
C |
A |
17: 46,626,330 (GRCm39) |
A704S |
probably damaging |
Het |
Adss2 |
A |
G |
1: 177,595,317 (GRCm39) |
W408R |
probably damaging |
Het |
Aplp1 |
T |
C |
7: 30,135,414 (GRCm39) |
E548G |
probably damaging |
Het |
C4b |
C |
T |
17: 34,959,330 (GRCm39) |
V415I |
probably benign |
Het |
Celsr3 |
T |
C |
9: 108,706,343 (GRCm39) |
V942A |
probably damaging |
Het |
Cstf1 |
A |
G |
2: 172,214,954 (GRCm39) |
D25G |
probably damaging |
Het |
Dnah14 |
A |
T |
1: 181,612,819 (GRCm39) |
|
probably null |
Het |
Dnah9 |
G |
A |
11: 65,880,677 (GRCm39) |
T2640I |
probably benign |
Het |
Dnase2b |
T |
C |
3: 146,288,151 (GRCm39) |
I315V |
probably damaging |
Het |
Endod1 |
T |
C |
9: 14,268,295 (GRCm39) |
S397G |
probably benign |
Het |
Eps8 |
A |
G |
6: 137,504,090 (GRCm39) |
V171A |
possibly damaging |
Het |
Ghdc |
T |
C |
11: 100,659,928 (GRCm39) |
E273G |
probably damaging |
Het |
Hmgn2-ps |
C |
T |
8: 73,058,839 (GRCm39) |
G63R |
probably damaging |
Het |
Hspbap1 |
T |
A |
16: 35,645,541 (GRCm39) |
S409T |
probably benign |
Het |
Ireb2 |
T |
C |
9: 54,799,794 (GRCm39) |
Y412H |
probably damaging |
Het |
Klhl6 |
A |
G |
16: 19,775,755 (GRCm39) |
Y268H |
probably damaging |
Het |
Krt16 |
T |
C |
11: 100,138,695 (GRCm39) |
D197G |
probably damaging |
Het |
Lca5 |
T |
C |
9: 83,277,563 (GRCm39) |
K594E |
possibly damaging |
Het |
Lgi3 |
T |
C |
14: 70,769,552 (GRCm39) |
F84S |
probably damaging |
Het |
Lingo3 |
T |
C |
10: 80,670,707 (GRCm39) |
I408V |
possibly damaging |
Het |
Map3k7 |
G |
T |
4: 31,985,769 (GRCm39) |
E231* |
probably null |
Het |
Nrip1 |
A |
G |
16: 76,088,078 (GRCm39) |
S1160P |
probably benign |
Het |
Oas1g |
A |
T |
5: 121,016,526 (GRCm39) |
L301Q |
probably damaging |
Het |
Obox3 |
T |
A |
7: 15,361,079 (GRCm39) |
Q62L |
possibly damaging |
Het |
Or5d37 |
A |
G |
2: 87,923,458 (GRCm39) |
L274P |
probably benign |
Het |
Or6b13 |
A |
T |
7: 139,782,326 (GRCm39) |
V119D |
probably damaging |
Het |
Parp8 |
G |
T |
13: 117,004,996 (GRCm39) |
F727L |
probably benign |
Het |
Pcdha1 |
T |
C |
18: 37,064,553 (GRCm39) |
Y406H |
probably damaging |
Het |
Pcdhgb8 |
A |
G |
18: 37,896,052 (GRCm39) |
D374G |
probably damaging |
Het |
Pdzd8 |
A |
T |
19: 59,289,783 (GRCm39) |
L539* |
probably null |
Het |
Phkb |
A |
G |
8: 86,669,021 (GRCm39) |
|
probably null |
Het |
Ppp1r13b |
T |
C |
12: 111,812,790 (GRCm39) |
E143G |
probably damaging |
Het |
Rpap2 |
T |
C |
5: 107,768,245 (GRCm39) |
V361A |
probably damaging |
Het |
Setd4 |
T |
C |
16: 93,384,711 (GRCm39) |
T326A |
probably benign |
Het |
Smad9 |
A |
G |
3: 54,696,744 (GRCm39) |
N270D |
probably benign |
Het |
Sntg2 |
A |
G |
12: 30,317,107 (GRCm39) |
S172P |
probably benign |
Het |
Tecpr1 |
A |
G |
5: 144,154,150 (GRCm39) |
L101P |
probably damaging |
Het |
Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
Tmprss11f |
T |
C |
5: 86,671,912 (GRCm39) |
T427A |
possibly damaging |
Het |
Trhr2 |
A |
G |
8: 123,085,489 (GRCm39) |
V165A |
possibly damaging |
Het |
Ubr3 |
T |
A |
2: 69,821,944 (GRCm39) |
L1402Q |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,850,622 (GRCm39) |
|
probably null |
Het |
Zfp369 |
T |
C |
13: 65,439,918 (GRCm39) |
S201P |
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 |
R7814:Jph4
|
UTSW |
14 |
55,347,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R8182:Jph4
|
UTSW |
14 |
55,347,213 (GRCm39) |
missense |
possibly damaging |
0.82 |
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'- AGGGTGTCTTGGAGGTAGAACC -3'
Sequencing Primer
(F):5'- AGCTAGTTCCTCTGCCTGCTC -3'
(R):5'- GTAATGGAAGGTTGGAGGTATCC -3'
|
Posted On |
2019-06-26 |