Incidental Mutation 'IGL02661:Sri'
| ID |
302568 |
| 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: 0.225)
|
| Stock # |
IGL02661
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
8096078-8119314 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 8113252 bp (GRCm39)
|
| 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 benign
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 benign
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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034E13Rik |
G |
T |
18: 52,793,566 (GRCm39) |
W33L |
probably damaging |
Het |
| Adam34 |
A |
T |
8: 44,104,572 (GRCm39) |
C358S |
probably damaging |
Het |
| Ak5 |
C |
A |
3: 152,169,593 (GRCm39) |
V561F |
probably benign |
Het |
| Ap1s1 |
T |
C |
5: 137,066,327 (GRCm39) |
D158G |
probably benign |
Het |
| Bard1 |
A |
G |
1: 71,114,469 (GRCm39) |
S171P |
probably damaging |
Het |
| Bsn |
A |
C |
9: 107,984,135 (GRCm39) |
Y534* |
probably null |
Het |
| Clcn4 |
A |
T |
7: 7,294,730 (GRCm39) |
|
probably null |
Het |
| Cyp2j7 |
T |
C |
4: 96,124,887 (GRCm39) |
T4A |
probably benign |
Het |
| Dnajc10 |
T |
A |
2: 80,157,084 (GRCm39) |
|
probably benign |
Het |
| Dtl |
G |
T |
1: 191,273,483 (GRCm39) |
T475N |
probably benign |
Het |
| Eif3m |
T |
C |
2: 104,835,314 (GRCm39) |
Y120C |
probably damaging |
Het |
| Gab1 |
A |
G |
8: 81,515,566 (GRCm39) |
S251P |
probably damaging |
Het |
| Gba1 |
T |
A |
3: 89,110,834 (GRCm39) |
V14E |
probably benign |
Het |
| Ggcx |
C |
T |
6: 72,395,343 (GRCm39) |
P145S |
possibly damaging |
Het |
| Gm13889 |
G |
A |
2: 93,787,024 (GRCm39) |
T150I |
probably benign |
Het |
| Gm4978 |
C |
A |
9: 69,358,180 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,762,821 (GRCm39) |
D850G |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 35,196,251 (GRCm39) |
I97V |
probably benign |
Het |
| Ighv1-4 |
T |
G |
12: 114,450,850 (GRCm39) |
K86T |
probably damaging |
Het |
| Ints4 |
C |
A |
7: 97,144,912 (GRCm39) |
L175I |
probably benign |
Het |
| Kif13b |
T |
G |
14: 65,005,140 (GRCm39) |
V1144G |
probably benign |
Het |
| Kpna3 |
T |
A |
14: 61,610,398 (GRCm39) |
|
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,044,766 (GRCm39) |
D371G |
probably damaging |
Het |
| Mtf1 |
T |
C |
4: 124,718,902 (GRCm39) |
L305P |
probably damaging |
Het |
| Myo15b |
T |
G |
11: 115,774,895 (GRCm39) |
V2139G |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,830,321 (GRCm39) |
|
probably benign |
Het |
| Neurod2 |
T |
C |
11: 98,218,405 (GRCm39) |
Q253R |
possibly damaging |
Het |
| Nfkbil1 |
C |
A |
17: 35,439,647 (GRCm39) |
A289S |
probably benign |
Het |
| Or4k35 |
T |
A |
2: 111,099,811 (GRCm39) |
R300S |
possibly damaging |
Het |
| Paxbp1 |
A |
T |
16: 90,827,413 (GRCm39) |
I474K |
probably benign |
Het |
| Pde6c |
A |
T |
19: 38,169,248 (GRCm39) |
I798F |
probably damaging |
Het |
| Pon3 |
T |
A |
6: 5,256,205 (GRCm39) |
T8S |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,587,689 (GRCm39) |
T2525A |
possibly damaging |
Het |
| Rnase10 |
T |
G |
14: 51,247,273 (GRCm39) |
V180G |
probably damaging |
Het |
| Rreb1 |
T |
A |
13: 38,114,778 (GRCm39) |
C712* |
probably null |
Het |
| Scamp2 |
T |
C |
9: 57,494,697 (GRCm39) |
|
probably benign |
Het |
| Serpina3i |
A |
T |
12: 104,231,515 (GRCm39) |
K51* |
probably null |
Het |
| Smyd4 |
C |
A |
11: 75,281,767 (GRCm39) |
C413* |
probably null |
Het |
| Spata2 |
C |
T |
2: 167,325,281 (GRCm39) |
V513M |
probably damaging |
Het |
| Urah |
A |
T |
7: 140,417,618 (GRCm39) |
K119M |
probably damaging |
Het |
| Wdr19 |
C |
T |
5: 65,403,151 (GRCm39) |
T1005I |
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 |
|
|
IGL02442:Sri
|
APN |
5 |
8,112,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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