Incidental Mutation 'IGL01646:Sri'
| ID |
332102 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sri
|
| Ensembl Gene |
ENSMUSG00000003161 |
| Gene Name |
sorcin |
| Synonyms |
Sor, 2210417O06Rik, 2900070H08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
IGL01646
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
8046078-8069379 bp(+) (GRCm38) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 8063755 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000088786
|
| SMART Domains |
Protein: ENSMUSP00000086165
Gene: ENSMUSG00000003161
| 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 |
probably null
Transcript: ENSMUST00000148633
|
| SMART Domains |
Protein: ENSMUSP00000118221
Gene: ENSMUSG00000003161
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011I03Rik |
T |
A |
18: 57,667,345 |
C171* |
probably null |
Het |
| Ambp |
C |
T |
4: 63,148,740 |
V188I |
probably benign |
Het |
| Bbs9 |
G |
T |
9: 22,670,925 |
E638* |
probably null |
Het |
| Bmp6 |
A |
G |
13: 38,498,928 |
M465V |
probably damaging |
Het |
| Cemip |
T |
C |
7: 83,983,232 |
E374G |
possibly damaging |
Het |
| Cnbd1 |
A |
T |
4: 18,895,141 |
Y200* |
probably null |
Het |
| Cox6b1 |
G |
T |
7: 30,624,504 |
Y34* |
probably null |
Het |
| Cyp2d26 |
A |
C |
15: 82,791,418 |
I303M |
probably benign |
Het |
| Diaph1 |
T |
A |
18: 37,893,416 |
|
probably null |
Het |
| Dmp1 |
T |
C |
5: 104,211,865 |
S136P |
probably damaging |
Het |
| Dpy19l1 |
C |
T |
9: 24,485,069 |
R117Q |
probably damaging |
Het |
| Eea1 |
A |
G |
10: 95,997,015 |
T241A |
probably damaging |
Het |
| Erap1 |
C |
A |
13: 74,666,172 |
T25K |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,758,148 |
E3137G |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,022,501 |
|
probably null |
Het |
| Gldc |
T |
G |
19: 30,100,765 |
D944A |
possibly damaging |
Het |
| Grm5 |
A |
G |
7: 88,040,059 |
Y546C |
probably damaging |
Het |
| Igkv1-122 |
G |
A |
6: 68,016,744 |
M1I |
probably null |
Het |
| Jag2 |
G |
A |
12: 112,916,349 |
P380S |
possibly damaging |
Het |
| Kcnc2 |
T |
C |
10: 112,272,406 |
|
probably null |
Het |
| Kmt2a |
T |
C |
9: 44,825,484 |
|
probably benign |
Het |
| Lrrc55 |
A |
G |
2: 85,191,989 |
V286A |
probably damaging |
Het |
| Mllt10 |
C |
A |
2: 18,122,317 |
H82N |
probably damaging |
Het |
| Myh11 |
C |
A |
16: 14,221,775 |
R837L |
probably damaging |
Het |
| Nsg1 |
C |
A |
5: 38,155,691 |
D55Y |
probably damaging |
Het |
| Nup107 |
C |
A |
10: 117,781,342 |
R221M |
probably damaging |
Het |
| Nup153 |
G |
T |
13: 46,684,107 |
A1213D |
possibly damaging |
Het |
| Ovgp1 |
G |
A |
3: 105,978,349 |
G174S |
probably damaging |
Het |
| Papss2 |
C |
T |
19: 32,652,082 |
A357V |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,713,867 |
K4118R |
unknown |
Het |
| Pde2a |
T |
C |
7: 101,507,711 |
I628T |
possibly damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,495,364 |
W521R |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,099,664 |
Q744L |
probably damaging |
Het |
| Pnpo |
T |
A |
11: 96,938,949 |
E251V |
possibly damaging |
Het |
| Rdh10 |
C |
T |
1: 16,108,022 |
H173Y |
possibly damaging |
Het |
| Sgpp2 |
A |
T |
1: 78,416,896 |
I179F |
probably damaging |
Het |
| Slc11a1 |
C |
T |
1: 74,384,740 |
P409L |
probably damaging |
Het |
| Slc35b4 |
T |
A |
6: 34,158,429 |
N316I |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,222,228 |
I712V |
probably benign |
Het |
| Spr |
T |
C |
6: 85,134,240 |
D216G |
possibly damaging |
Het |
| Tas2r124 |
T |
C |
6: 132,755,369 |
S214P |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,678,087 |
S233T |
probably damaging |
Het |
| Tgfbr3 |
A |
T |
5: 107,121,413 |
|
probably benign |
Het |
| Vmn2r45 |
A |
G |
7: 8,483,338 |
F317S |
probably benign |
Het |
| Vmn2r99 |
C |
A |
17: 19,393,658 |
|
probably benign |
Het |
| Zfp957 |
T |
C |
14: 79,213,891 |
E156G |
probably benign |
Het |
|
| Other mutations in Sri |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02442:Sri
|
APN |
5 |
8,062,411 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02661:Sri
|
APN |
5 |
8,063,252 (GRCm38) |
splice site |
probably benign |
|
|
IGL02675:Sri
|
APN |
5 |
8,067,534 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0847:Sri
|
UTSW |
5 |
8,063,755 (GRCm38) |
splice site |
probably null |
|
|
R0973:Sri
|
UTSW |
5 |
8,059,381 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0973:Sri
|
UTSW |
5 |
8,059,381 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0974:Sri
|
UTSW |
5 |
8,059,381 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1187:Sri
|
UTSW |
5 |
8,059,416 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2860:Sri
|
UTSW |
5 |
8,067,540 (GRCm38) |
missense |
probably benign |
0.26 |
|
R2861:Sri
|
UTSW |
5 |
8,067,540 (GRCm38) |
missense |
probably benign |
0.26 |
|
R3844:Sri
|
UTSW |
5 |
8,064,576 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4345:Sri
|
UTSW |
5 |
8,059,427 (GRCm38) |
splice site |
probably null |
|
|
R4575:Sri
|
UTSW |
5 |
8,063,693 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4704:Sri
|
UTSW |
5 |
8,062,430 (GRCm38) |
splice site |
probably null |
|
|
R5878:Sri
|
UTSW |
5 |
8,059,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6257:Sri
|
UTSW |
5 |
8,059,596 (GRCm38) |
splice site |
probably null |
|
|
R6944:Sri
|
UTSW |
5 |
8,063,365 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7716:Sri
|
UTSW |
5 |
8,056,641 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7917:Sri
|
UTSW |
5 |
8,063,409 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7929:Sri
|
UTSW |
5 |
8,057,652 (GRCm38) |
intron |
probably benign |
|
|
R7960:Sri
|
UTSW |
5 |
8,064,586 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8316:Sri
|
UTSW |
5 |
8,063,317 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9062:Sri
|
UTSW |
5 |
8,056,625 (GRCm38) |
missense |
unknown |
|
|
R9224:Sri
|
UTSW |
5 |
8,063,323 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0061:Sri
|
UTSW |
5 |
8,063,368 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
| Posted On |
2015-08-05 |
Incidental Mutation