Incidental Mutation 'R3904:Jsrp1'
ID |
474475 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Jsrp1
|
Ensembl Gene |
ENSMUSG00000020216 |
Gene Name |
junctional sarcoplasmic reticulum protein 1 |
Synonyms |
JP-45, JP45, 2310032K21Rik, 2300003C06Rik |
MMRRC Submission |
040812-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3904 (G1)
|
Quality Score |
179 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
80644330-80649332 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to A
at 80648246 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 1
(M1L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137960
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020435]
[ENSMUST00000036016]
[ENSMUST00000180438]
[ENSMUST00000181039]
[ENSMUST00000181945]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020435
|
SMART Domains |
Protein: ENSMUSP00000020435 Gene: ENSMUSG00000020216
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
77 |
N/A |
INTRINSIC |
Pfam:JSRP
|
79 |
138 |
1e-29 |
PFAM |
low complexity region
|
145 |
158 |
N/A |
INTRINSIC |
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
low complexity region
|
205 |
230 |
N/A |
INTRINSIC |
low complexity region
|
273 |
284 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000036016
|
SMART Domains |
Protein: ENSMUSP00000043153 Gene: ENSMUSG00000035262
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
low complexity region
|
38 |
52 |
N/A |
INTRINSIC |
Pfam:AMH_N
|
75 |
439 |
3e-133 |
PFAM |
TGFB
|
456 |
554 |
8.57e-36 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180438
|
SMART Domains |
Protein: ENSMUSP00000137701 Gene: ENSMUSG00000020216
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
48 |
N/A |
INTRINSIC |
Pfam:JSRP
|
49 |
78 |
3.2e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181039
AA Change: M1L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000137666 Gene: ENSMUSG00000020216 AA Change: M1L
Domain | Start | End | E-Value | Type |
low complexity region
|
92 |
117 |
N/A |
INTRINSIC |
Pfam:JSRP
|
118 |
179 |
1e-31 |
PFAM |
low complexity region
|
185 |
198 |
N/A |
INTRINSIC |
low complexity region
|
219 |
232 |
N/A |
INTRINSIC |
low complexity region
|
245 |
270 |
N/A |
INTRINSIC |
low complexity region
|
313 |
324 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181945
AA Change: M1L
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000137960 Gene: ENSMUSG00000020216 AA Change: M1L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
100% (39/39) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in excitation-contraction coupling at the sarcoplasmic reticulum. The encoded protein can interact with CACNA1S, CACNB1, and calsequestrin to help regulate calcium influx and efflux in skeletal muscle. [provided by RefSeq, Jul 2012] PHENOTYPE: Mice homozygous for a null allele exhibit muscle weakness, abnormal voluntary movement and abnormal muscle physiology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
C |
3: 137,772,400 (GRCm39) |
I530L |
probably benign |
Het |
5930422O12Rik |
T |
C |
8: 33,919,467 (GRCm39) |
S96P |
probably damaging |
Het |
Acot4 |
A |
G |
12: 84,090,101 (GRCm39) |
|
probably null |
Het |
Alms1 |
A |
G |
6: 85,598,660 (GRCm39) |
D1631G |
probably benign |
Het |
Amd1 |
C |
T |
10: 40,166,453 (GRCm39) |
R210H |
probably benign |
Het |
Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
Anapc1 |
A |
G |
2: 128,484,439 (GRCm39) |
F1175S |
probably damaging |
Het |
Ano4 |
A |
G |
10: 88,860,867 (GRCm39) |
F337S |
probably damaging |
Het |
Bub1 |
A |
C |
2: 127,663,862 (GRCm39) |
I207S |
probably benign |
Het |
Cfap53 |
T |
A |
18: 74,440,445 (GRCm39) |
L405M |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
Esp3 |
A |
T |
17: 40,946,820 (GRCm39) |
T48S |
possibly damaging |
Het |
Fmo1 |
G |
T |
1: 162,661,337 (GRCm39) |
N315K |
possibly damaging |
Het |
Fsip2l |
T |
C |
X: 47,930,421 (GRCm39) |
N649S |
possibly damaging |
Het |
Impg1 |
A |
G |
9: 80,252,867 (GRCm39) |
S438P |
possibly damaging |
Het |
Klra14-ps |
T |
A |
6: 130,129,512 (GRCm39) |
|
noncoding transcript |
Het |
Mrm3 |
A |
G |
11: 76,135,112 (GRCm39) |
M108V |
probably benign |
Het |
Mtf2 |
T |
A |
5: 108,228,866 (GRCm39) |
F61I |
probably damaging |
Het |
Nat10 |
A |
T |
2: 103,556,592 (GRCm39) |
|
probably benign |
Het |
Or2y10 |
T |
C |
11: 49,455,585 (GRCm39) |
I279T |
possibly damaging |
Het |
Or7c70 |
T |
G |
10: 78,683,132 (GRCm39) |
I206L |
probably benign |
Het |
Pcgf5 |
T |
C |
19: 36,417,495 (GRCm39) |
I140T |
probably damaging |
Het |
Pfpl |
T |
C |
19: 12,407,801 (GRCm39) |
L684P |
probably benign |
Het |
Psmd10 |
T |
C |
X: 139,850,052 (GRCm39) |
*152W |
probably null |
Het |
Ptpn23 |
A |
C |
9: 110,218,313 (GRCm39) |
M600R |
probably benign |
Het |
Pxmp4 |
C |
T |
2: 154,429,969 (GRCm39) |
R140H |
probably damaging |
Het |
Rnf112 |
T |
C |
11: 61,341,211 (GRCm39) |
E410G |
probably damaging |
Het |
Samd9l |
T |
A |
6: 3,376,830 (GRCm39) |
K144* |
probably null |
Het |
Shld2 |
A |
G |
14: 33,981,666 (GRCm39) |
W491R |
probably damaging |
Het |
Slc46a3 |
C |
T |
5: 147,823,264 (GRCm39) |
E193K |
probably benign |
Het |
Snap23 |
A |
C |
2: 120,429,815 (GRCm39) |
D209A |
possibly damaging |
Het |
Tg |
C |
T |
15: 66,638,011 (GRCm39) |
Q656* |
probably null |
Het |
Tshz2 |
A |
G |
2: 169,726,307 (GRCm39) |
Y301C |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,670,638 (GRCm39) |
|
probably benign |
Het |
Unc80 |
C |
T |
1: 66,678,455 (GRCm39) |
Q2011* |
probably null |
Het |
Vwa3a |
A |
G |
7: 120,358,099 (GRCm39) |
T57A |
probably benign |
Het |
Zfp518a |
C |
T |
19: 40,903,364 (GRCm39) |
Q1098* |
probably null |
Het |
|
Other mutations in Jsrp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02252:Jsrp1
|
APN |
10 |
80,644,707 (GRCm39) |
missense |
probably benign |
|
R0080:Jsrp1
|
UTSW |
10 |
80,646,349 (GRCm39) |
missense |
probably benign |
|
R2511:Jsrp1
|
UTSW |
10 |
80,648,140 (GRCm39) |
missense |
probably benign |
0.27 |
R4282:Jsrp1
|
UTSW |
10 |
80,646,190 (GRCm39) |
missense |
probably benign |
0.00 |
R5366:Jsrp1
|
UTSW |
10 |
80,646,030 (GRCm39) |
nonsense |
probably null |
|
R7084:Jsrp1
|
UTSW |
10 |
80,644,410 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7204:Jsrp1
|
UTSW |
10 |
80,646,319 (GRCm39) |
missense |
probably benign |
|
R7311:Jsrp1
|
UTSW |
10 |
80,647,906 (GRCm39) |
missense |
probably benign |
|
R7949:Jsrp1
|
UTSW |
10 |
80,647,906 (GRCm39) |
missense |
probably benign |
|
R8756:Jsrp1
|
UTSW |
10 |
80,647,940 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9482:Jsrp1
|
UTSW |
10 |
80,644,734 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Predicted Primers |
|
Posted On |
2017-04-14 |