Incidental Mutation 'IGL02675:Sri'
| ID |
303070 |
| 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 # |
IGL02675
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
8096078-8119314 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8117534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 191
(F191S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050166]
[ENSMUST00000088744]
[ENSMUST00000088761]
[ENSMUST00000088786]
[ENSMUST00000115386]
[ENSMUST00000115388]
[ENSMUST00000148633]
|
| AlphaFold |
Q6P069 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000003245
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050166
|
| SMART Domains |
Protein: ENSMUSP00000055000
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
44 |
186 |
7.6e-27 |
PFAM |
|
low complexity region
|
214 |
230 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
235 |
405 |
1.1e-8 |
PFAM |
|
Pfam:Reprolysin
|
237 |
436 |
1.1e-58 |
PFAM |
|
Pfam:Reprolysin_3
|
261 |
379 |
3.4e-12 |
PFAM |
|
DISIN
|
451 |
527 |
3.38e-31 |
SMART |
|
ACR
|
528 |
669 |
3.05e-58 |
SMART |
|
EGF
|
676 |
710 |
1.28e1 |
SMART |
|
transmembrane domain
|
735 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
824 |
839 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088744
|
| SMART Domains |
Protein: ENSMUSP00000086122
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
41 |
186 |
4.2e-29 |
PFAM |
|
low complexity region
|
214 |
230 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
235 |
405 |
1.2e-8 |
PFAM |
|
Pfam:Reprolysin
|
237 |
436 |
2.9e-65 |
PFAM |
|
Pfam:Reprolysin_3
|
261 |
378 |
9.2e-13 |
PFAM |
|
DISIN
|
451 |
527 |
3.38e-31 |
SMART |
|
ACR
|
528 |
669 |
3.05e-58 |
SMART |
|
EGF
|
676 |
710 |
1.28e1 |
SMART |
|
transmembrane domain
|
736 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
785 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
883 |
898 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088761
|
| SMART Domains |
Protein: ENSMUSP00000086139
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
44 |
186 |
8.1e-27 |
PFAM |
|
low complexity region
|
214 |
230 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
235 |
405 |
1.2e-8 |
PFAM |
|
Pfam:Reprolysin
|
237 |
436 |
1.1e-58 |
PFAM |
|
Pfam:Reprolysin_3
|
261 |
379 |
3.6e-12 |
PFAM |
|
DISIN
|
451 |
527 |
3.38e-31 |
SMART |
|
ACR
|
528 |
669 |
3.05e-58 |
SMART |
|
EGF
|
676 |
710 |
1.28e1 |
SMART |
|
transmembrane domain
|
735 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
789 |
808 |
N/A |
INTRINSIC |
|
low complexity region
|
860 |
875 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088786
AA Change: F176S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086165
Gene: ENSMUSG00000003161
AA Change: F176S
| 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 |
probably benign
Transcript: ENSMUST00000115386
|
| SMART Domains |
Protein: ENSMUSP00000111044
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
44 |
186 |
3.4e-27 |
PFAM |
|
low complexity region
|
214 |
230 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
235 |
405 |
5.1e-9 |
PFAM |
|
Pfam:Reprolysin
|
237 |
436 |
5e-59 |
PFAM |
|
Pfam:Reprolysin_3
|
261 |
379 |
1.6e-12 |
PFAM |
|
DISIN
|
451 |
527 |
3.38e-31 |
SMART |
|
ACR
|
528 |
669 |
3.05e-58 |
SMART |
|
EGF
|
676 |
710 |
1.28e1 |
SMART |
|
transmembrane domain
|
735 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
850 |
870 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115388
|
| SMART Domains |
Protein: ENSMUSP00000111046
Gene: ENSMUSG00000040537
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
44 |
186 |
8e-27 |
PFAM |
|
low complexity region
|
214 |
230 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
235 |
405 |
1.1e-8 |
PFAM |
|
Pfam:Reprolysin
|
237 |
436 |
1.1e-58 |
PFAM |
|
Pfam:Reprolysin_3
|
261 |
379 |
3.5e-12 |
PFAM |
|
DISIN
|
451 |
527 |
3.38e-31 |
SMART |
|
ACR
|
528 |
669 |
3.05e-58 |
SMART |
|
EGF
|
676 |
710 |
1.28e1 |
SMART |
|
transmembrane domain
|
735 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
872 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148633
AA Change: F191S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118221
Gene: ENSMUSG00000003161
AA Change: F191S
| 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
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano8 |
A |
G |
8: 71,936,184 (GRCm39) |
I204T |
probably damaging |
Het |
| Anxa8 |
A |
G |
14: 33,815,371 (GRCm39) |
D150G |
probably damaging |
Het |
| Arel1 |
T |
C |
12: 84,977,002 (GRCm39) |
T438A |
probably damaging |
Het |
| Asphd1 |
T |
C |
7: 126,546,006 (GRCm39) |
|
probably benign |
Het |
| Bcl2l12 |
A |
T |
7: 44,640,824 (GRCm39) |
|
probably benign |
Het |
| Cand1 |
A |
G |
10: 119,055,602 (GRCm39) |
I87T |
probably damaging |
Het |
| Ccdc80 |
A |
C |
16: 44,936,695 (GRCm39) |
T707P |
probably damaging |
Het |
| Ccn6 |
A |
G |
10: 39,027,236 (GRCm39) |
V332A |
possibly damaging |
Het |
| Cdh9 |
T |
A |
15: 16,849,162 (GRCm39) |
|
probably null |
Het |
| Chrd |
T |
C |
16: 20,558,699 (GRCm39) |
|
probably benign |
Het |
| Cpn1 |
T |
C |
19: 43,969,369 (GRCm39) |
Q98R |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,172,420 (GRCm39) |
S583P |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,543,183 (GRCm39) |
I2329T |
possibly damaging |
Het |
| Egln3 |
A |
G |
12: 54,249,996 (GRCm39) |
S118P |
probably benign |
Het |
| Gfra1 |
G |
A |
19: 58,441,787 (GRCm39) |
T48I |
probably damaging |
Het |
| Hapln3 |
C |
T |
7: 78,767,596 (GRCm39) |
|
probably null |
Het |
| Heatr3 |
T |
C |
8: 88,871,185 (GRCm39) |
F180L |
possibly damaging |
Het |
| Herc2 |
T |
A |
7: 55,813,849 (GRCm39) |
S2661T |
probably damaging |
Het |
| Hook3 |
A |
T |
8: 26,551,462 (GRCm39) |
L126Q |
possibly damaging |
Het |
| Hoxd8 |
T |
G |
2: 74,536,930 (GRCm39) |
L214R |
probably damaging |
Het |
| Ifna1 |
T |
G |
4: 88,768,670 (GRCm39) |
L116R |
probably damaging |
Het |
| Il31ra |
T |
A |
13: 112,660,886 (GRCm39) |
T487S |
probably benign |
Het |
| Kifc2 |
C |
T |
15: 76,547,179 (GRCm39) |
R252W |
probably damaging |
Het |
| Meox2 |
A |
G |
12: 37,228,333 (GRCm39) |
D290G |
probably damaging |
Het |
| Micu2 |
A |
G |
14: 58,182,834 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,673,130 (GRCm39) |
T406A |
possibly damaging |
Het |
| Naip1 |
T |
A |
13: 100,545,626 (GRCm39) |
M1301L |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,828,244 (GRCm39) |
L1341P |
possibly damaging |
Het |
| Pcna-ps2 |
C |
A |
19: 9,261,323 (GRCm39) |
A194E |
probably benign |
Het |
| Pdcd10 |
G |
A |
3: 75,434,901 (GRCm39) |
T130I |
probably damaging |
Het |
| Pprc1 |
G |
A |
19: 46,051,946 (GRCm39) |
G491D |
probably damaging |
Het |
| Prss57 |
A |
G |
10: 79,623,309 (GRCm39) |
V46A |
probably benign |
Het |
| Ptcd3 |
A |
G |
6: 71,860,426 (GRCm39) |
|
probably null |
Het |
| Riok1 |
C |
T |
13: 38,234,219 (GRCm39) |
P262S |
probably damaging |
Het |
| Rnf13 |
A |
G |
3: 57,686,817 (GRCm39) |
N70S |
probably benign |
Het |
| Skint7 |
T |
A |
4: 111,839,178 (GRCm39) |
D157E |
probably benign |
Het |
| Stat5b |
T |
C |
11: 100,678,200 (GRCm39) |
R638G |
probably benign |
Het |
| Suds3 |
C |
T |
5: 117,232,970 (GRCm39) |
|
probably null |
Het |
| Tmem19 |
A |
G |
10: 115,178,478 (GRCm39) |
L281P |
probably damaging |
Het |
| Tmf1 |
A |
G |
6: 97,141,003 (GRCm39) |
|
probably benign |
Het |
| Trio |
A |
G |
15: 27,768,125 (GRCm39) |
|
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,950,391 (GRCm39) |
I940T |
possibly damaging |
Het |
| Zfp280d |
T |
A |
9: 72,219,504 (GRCm39) |
I227K |
probably benign |
Het |
| Zfp335 |
A |
G |
2: 164,752,609 (GRCm39) |
V45A |
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 |
|
IGL02661:Sri
|
APN |
5 |
8,113,252 (GRCm39) |
splice site |
probably benign |
|
|
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