Incidental Mutation 'IGL02442:Sri'
| ID |
293448 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sri
|
| Ensembl Gene |
ENSMUSG00000003161 |
| Gene Name |
sorcin |
| Synonyms |
2210417O06Rik, 2900070H08Rik, Sor |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.195)
|
| Stock # |
IGL02442
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
8096078-8119314 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8112411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 78
(M78K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088786]
[ENSMUST00000148633]
|
| AlphaFold |
Q6P069 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000003245
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088786
AA Change: M63K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000086165
Gene: ENSMUSG00000003161
AA Change: M63K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
Pfam:EF-hand_5
|
30 |
43 |
8.7e-4 |
PFAM |
|
EFh
|
59 |
87 |
6.75e0 |
SMART |
|
EFh
|
89 |
117 |
1.02e-2 |
SMART |
|
Blast:EFh
|
153 |
183 |
9e-9 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144265
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145119
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148633
AA Change: M78K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118221
Gene: ENSMUSG00000003161
AA Change: M78K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
29 |
N/A |
INTRINSIC |
|
Pfam:EF-hand_5
|
45 |
58 |
9.6e-4 |
PFAM |
|
EFh
|
74 |
102 |
6.75e0 |
SMART |
|
EFh
|
104 |
132 |
1.02e-2 |
SMART |
|
Blast:EFh
|
168 |
198 |
1e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149420
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197065
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium-binding protein with multiple E-F hand domains that relocates from the cytoplasm to the sarcoplasmic reticulum in response to elevated calcium levels. In addition to regulating intracellular calcium homeostasis it also modulates excitation-contraction coupling in the heart. Alternative splicing results in multiple transcript variants encoding distinct proteins. Multiple pseudogenes exist for this gene. [provided by RefSeq, Mar 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adap2 |
A |
G |
11: 80,068,032 (GRCm39) |
E348G |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 8,981,380 (GRCm39) |
G888D |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cfap97d1 |
T |
C |
11: 101,881,652 (GRCm39) |
V116A |
probably benign |
Het |
| Csde1 |
T |
C |
3: 102,962,135 (GRCm39) |
C649R |
probably benign |
Het |
| Cym |
A |
C |
3: 107,121,601 (GRCm39) |
D230E |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,009,835 (GRCm39) |
I1911N |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,403,360 (GRCm39) |
H37R |
probably benign |
Het |
| Ggt6 |
T |
C |
11: 72,327,632 (GRCm39) |
V146A |
possibly damaging |
Het |
| Glud1 |
T |
A |
14: 34,057,395 (GRCm39) |
L54* |
probably null |
Het |
| Grk6 |
A |
G |
13: 55,606,750 (GRCm39) |
|
probably benign |
Het |
| Gsta4 |
G |
A |
9: 78,116,447 (GRCm39) |
V219I |
probably benign |
Het |
| Gucy1a2 |
G |
A |
9: 3,865,385 (GRCm39) |
V620M |
probably damaging |
Het |
| Hspe1 |
T |
C |
1: 55,128,201 (GRCm39) |
|
probably benign |
Het |
| Icmt |
T |
C |
4: 152,383,173 (GRCm39) |
V76A |
possibly damaging |
Het |
| Ifrd1 |
A |
G |
12: 40,266,316 (GRCm39) |
|
probably benign |
Het |
| Lgals12 |
T |
C |
19: 7,584,019 (GRCm39) |
|
probably benign |
Het |
| Lypla1 |
T |
C |
1: 4,902,610 (GRCm39) |
|
probably benign |
Het |
| Map1b |
A |
T |
13: 99,644,706 (GRCm39) |
W66R |
probably damaging |
Het |
| Matn3 |
T |
A |
12: 9,017,678 (GRCm39) |
C443* |
probably null |
Het |
| Mup8 |
T |
A |
4: 60,219,695 (GRCm39) |
R191W |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,551,811 (GRCm39) |
K140R |
probably benign |
Het |
| Ndfip1 |
C |
T |
18: 38,580,789 (GRCm39) |
S66L |
probably damaging |
Het |
| Neu1 |
A |
G |
17: 35,153,445 (GRCm39) |
I323V |
probably benign |
Het |
| Nup205 |
A |
T |
6: 35,167,003 (GRCm39) |
T341S |
probably benign |
Het |
| Or4f7 |
G |
A |
2: 111,644,336 (GRCm39) |
T245I |
probably benign |
Het |
| Or5b112 |
T |
A |
19: 13,319,484 (GRCm39) |
C121S |
probably benign |
Het |
| Or5b3 |
T |
A |
19: 13,388,351 (GRCm39) |
N139K |
probably benign |
Het |
| Ovch2 |
T |
A |
7: 107,395,755 (GRCm39) |
I88F |
possibly damaging |
Het |
| Pkd1 |
T |
A |
17: 24,784,200 (GRCm39) |
S249T |
probably benign |
Het |
| Plekhg3 |
A |
T |
12: 76,625,127 (GRCm39) |
Q1324L |
probably benign |
Het |
| Ppara |
T |
A |
15: 85,685,344 (GRCm39) |
V431E |
probably benign |
Het |
| Prkaa1 |
T |
G |
15: 5,206,369 (GRCm39) |
H408Q |
probably damaging |
Het |
| Sap25 |
T |
A |
5: 137,640,257 (GRCm39) |
N108K |
probably benign |
Het |
| Setd5 |
A |
C |
6: 113,087,341 (GRCm39) |
I81L |
possibly damaging |
Het |
| Sinhcaf |
A |
T |
6: 148,830,005 (GRCm39) |
|
probably null |
Het |
| Tyro3 |
A |
G |
2: 119,639,349 (GRCm39) |
N352S |
probably benign |
Het |
| Ubr5 |
T |
A |
15: 38,038,145 (GRCm39) |
E332V |
possibly damaging |
Het |
| Vmn2r19 |
G |
T |
6: 123,286,621 (GRCm39) |
V85F |
possibly damaging |
Het |
| Vmn2r53 |
A |
T |
7: 12,315,656 (GRCm39) |
V721D |
probably damaging |
Het |
| Vwa5a |
A |
G |
9: 38,646,080 (GRCm39) |
M483V |
probably benign |
Het |
| Zfp786 |
T |
A |
6: 47,798,301 (GRCm39) |
Q212H |
probably benign |
Het |
|
| Other mutations in Sri |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01646:Sri
|
APN |
5 |
8,113,755 (GRCm39) |
splice site |
probably null |
|
|
IGL02661:Sri
|
APN |
5 |
8,113,252 (GRCm39) |
splice site |
probably benign |
|
|
IGL02675:Sri
|
APN |
5 |
8,117,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0847:Sri
|
UTSW |
5 |
8,113,755 (GRCm39) |
splice site |
probably null |
|
|
R0973:Sri
|
UTSW |
5 |
8,109,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Sri
|
UTSW |
5 |
8,109,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0974:Sri
|
UTSW |
5 |
8,109,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1187:Sri
|
UTSW |
5 |
8,109,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2860:Sri
|
UTSW |
5 |
8,117,540 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2861:Sri
|
UTSW |
5 |
8,117,540 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3844:Sri
|
UTSW |
5 |
8,114,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4345:Sri
|
UTSW |
5 |
8,109,427 (GRCm39) |
splice site |
probably null |
|
|
R4575:Sri
|
UTSW |
5 |
8,113,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4704:Sri
|
UTSW |
5 |
8,112,430 (GRCm39) |
splice site |
probably null |
|
|
R5878:Sri
|
UTSW |
5 |
8,109,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6257:Sri
|
UTSW |
5 |
8,109,596 (GRCm39) |
splice site |
probably null |
|
|
R6944:Sri
|
UTSW |
5 |
8,113,365 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7716:Sri
|
UTSW |
5 |
8,106,641 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7917:Sri
|
UTSW |
5 |
8,113,409 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7929:Sri
|
UTSW |
5 |
8,107,652 (GRCm39) |
intron |
probably benign |
|
|
R7960:Sri
|
UTSW |
5 |
8,114,586 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8316:Sri
|
UTSW |
5 |
8,113,317 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9062:Sri
|
UTSW |
5 |
8,106,625 (GRCm39) |
missense |
unknown |
|
|
R9224:Sri
|
UTSW |
5 |
8,113,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0061:Sri
|
UTSW |
5 |
8,113,368 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Posted On |
2015-04-16 |
Incidental Mutation