Incidental Mutation 'R3844:Sri'
| ID |
277271 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3844 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
8096078-8119314 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8114576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 177
(D177G)
|
| 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: D162G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086165
Gene: ENSMUSG00000003161
AA Change: D162G
| 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 damaging
Transcript: ENSMUST00000148633
AA Change: D177G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118221
Gene: ENSMUSG00000003161
AA Change: D177G
| 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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.6%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730071L15Rik |
A |
T |
11: 6,150,032 (GRCm39) |
R2* |
probably null |
Het |
| Acaca |
T |
A |
11: 84,255,239 (GRCm39) |
D1932E |
probably damaging |
Het |
| Adam5 |
T |
A |
8: 25,303,426 (GRCm39) |
D167V |
probably benign |
Het |
| Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
| Aqp11 |
T |
A |
7: 97,387,046 (GRCm39) |
E50V |
probably damaging |
Het |
| Arid4b |
C |
T |
13: 14,361,645 (GRCm39) |
S703L |
probably damaging |
Het |
| Ccl25 |
T |
G |
8: 4,404,183 (GRCm39) |
V179G |
possibly damaging |
Het |
| Clk2 |
A |
G |
3: 89,077,710 (GRCm39) |
N222S |
probably benign |
Het |
| Col13a1 |
C |
T |
10: 61,685,988 (GRCm39) |
G668D |
unknown |
Het |
| Col20a1 |
A |
G |
2: 180,634,242 (GRCm39) |
E69G |
probably damaging |
Het |
| Dcc |
G |
A |
18: 71,959,257 (GRCm39) |
H172Y |
probably benign |
Het |
| Dock8 |
T |
G |
19: 25,042,794 (GRCm39) |
Y125* |
probably null |
Het |
| E2f1 |
A |
G |
2: 154,402,748 (GRCm39) |
S340P |
probably benign |
Het |
| Fars2 |
T |
C |
13: 36,389,084 (GRCm39) |
F191S |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,392,790 (GRCm39) |
V888A |
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,648,733 (GRCm39) |
H1392L |
possibly damaging |
Het |
| Fsip2 |
C |
T |
2: 82,819,950 (GRCm39) |
H5228Y |
possibly damaging |
Het |
| Galnt14 |
A |
G |
17: 74,016,924 (GRCm39) |
|
probably null |
Het |
| Grm8 |
A |
T |
6: 27,429,507 (GRCm39) |
N462K |
possibly damaging |
Het |
| Ireb2 |
A |
G |
9: 54,799,789 (GRCm39) |
E410G |
probably damaging |
Het |
| Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
| Kdm7a |
T |
A |
6: 39,158,513 (GRCm39) |
I77F |
probably damaging |
Het |
| Klhl11 |
A |
T |
11: 100,363,133 (GRCm39) |
M141K |
possibly damaging |
Het |
| Lactbl1 |
A |
G |
4: 136,365,271 (GRCm39) |
H541R |
possibly damaging |
Het |
| Mylk |
A |
G |
16: 34,742,247 (GRCm39) |
M920V |
probably benign |
Het |
| Or2w1b |
A |
G |
13: 21,300,233 (GRCm39) |
T124A |
possibly damaging |
Het |
| Piwil4 |
T |
A |
9: 14,641,256 (GRCm39) |
T179S |
possibly damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,313,717 (GRCm39) |
L1479P |
possibly damaging |
Het |
| Rpl3l |
A |
G |
17: 24,952,916 (GRCm39) |
H292R |
probably benign |
Het |
| Rps6ka4 |
C |
A |
19: 6,815,171 (GRCm39) |
E202* |
probably null |
Het |
| Rsph14 |
T |
C |
10: 74,867,107 (GRCm39) |
D13G |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 35,938,365 (GRCm39) |
V1437A |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,471,926 (GRCm39) |
R523G |
probably damaging |
Het |
| Tm9sf3 |
A |
T |
19: 41,205,555 (GRCm39) |
L561M |
possibly damaging |
Het |
| Tnrc6c |
G |
T |
11: 117,646,309 (GRCm39) |
D1417Y |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,186,437 (GRCm39) |
S648L |
probably damaging |
Het |
| Zfp827 |
T |
A |
8: 79,863,248 (GRCm39) |
L69Q |
probably damaging |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGACCATTGACCACTTTCGG -3'
(R):5'- CATGAGCCACCATGTCCTATTATG -3'
Sequencing Primer
(F):5'- TCGGTCACTGTTACATATTGACTAG -3'
(R):5'- GCTTGAATTCATGGCAAGCC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation