Incidental Mutation 'R4345:Sri'
ID |
324290 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sri
|
Ensembl Gene |
ENSMUSG00000003161 |
Gene Name |
sorcin |
Synonyms |
2210417O06Rik, 2900070H08Rik, Sor |
MMRRC Submission |
041666-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.195)
|
Stock # |
R4345 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
8096078-8119314 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to T
at 8109427 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 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: ENSMUST00000121828
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144265
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145119
|
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
96% (47/49) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asap2 |
T |
C |
12: 21,280,832 (GRCm39) |
W449R |
probably damaging |
Het |
Astn1 |
T |
A |
1: 158,329,602 (GRCm39) |
|
probably null |
Het |
C3ar1 |
T |
C |
6: 122,827,659 (GRCm39) |
D186G |
probably damaging |
Het |
Fbf1 |
A |
G |
11: 116,038,568 (GRCm39) |
V851A |
probably benign |
Het |
Foxp4 |
G |
A |
17: 48,185,573 (GRCm39) |
T500M |
unknown |
Het |
Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
Gramd4 |
T |
C |
15: 86,019,094 (GRCm39) |
S581P |
probably damaging |
Het |
Heatr5b |
A |
T |
17: 79,067,940 (GRCm39) |
V1816E |
possibly damaging |
Het |
Igf2r |
C |
T |
17: 12,928,398 (GRCm39) |
E982K |
possibly damaging |
Het |
Il1r1 |
A |
G |
1: 40,337,084 (GRCm39) |
D224G |
probably benign |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Lactb2 |
T |
A |
1: 13,730,574 (GRCm39) |
Y34F |
probably damaging |
Het |
Lepr |
G |
A |
4: 101,622,349 (GRCm39) |
|
probably null |
Het |
Loxhd1 |
A |
G |
18: 77,486,697 (GRCm39) |
I1261V |
possibly damaging |
Het |
Map4k3 |
A |
G |
17: 80,904,980 (GRCm39) |
|
probably null |
Het |
Mcee |
T |
C |
7: 64,061,686 (GRCm39) |
L109P |
probably damaging |
Het |
Mier3 |
A |
G |
13: 111,841,817 (GRCm39) |
D124G |
probably damaging |
Het |
Mrpl43 |
T |
C |
19: 44,994,549 (GRCm39) |
Y64C |
probably damaging |
Het |
Nfasc |
A |
G |
1: 132,559,443 (GRCm39) |
F229S |
probably damaging |
Het |
Nsd3 |
G |
C |
8: 26,131,333 (GRCm39) |
G233R |
probably benign |
Het |
Or2ak7 |
A |
G |
11: 58,574,771 (GRCm39) |
D24G |
possibly damaging |
Het |
Or8k27 |
T |
A |
2: 86,276,189 (GRCm39) |
I46F |
probably damaging |
Het |
Pdzd8 |
T |
C |
19: 59,288,560 (GRCm39) |
T947A |
probably benign |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Pno1 |
A |
G |
11: 17,159,095 (GRCm39) |
S158P |
possibly damaging |
Het |
Prr14l |
A |
G |
5: 32,985,920 (GRCm39) |
S1192P |
probably damaging |
Het |
Setbp1 |
T |
A |
18: 79,129,794 (GRCm39) |
E146V |
probably damaging |
Het |
Slc9a5 |
T |
C |
8: 106,076,087 (GRCm39) |
S27P |
probably benign |
Het |
Stard9 |
G |
A |
2: 120,532,427 (GRCm39) |
V2895I |
probably benign |
Het |
Tgfbrap1 |
T |
C |
1: 43,095,866 (GRCm39) |
D524G |
probably benign |
Het |
Them4 |
A |
G |
3: 94,237,172 (GRCm39) |
T211A |
possibly damaging |
Het |
Thoc2l |
A |
G |
5: 104,669,315 (GRCm39) |
E1279G |
probably benign |
Het |
Trpm3 |
A |
T |
19: 22,875,061 (GRCm39) |
S568C |
probably damaging |
Het |
Ttl |
T |
C |
2: 128,917,778 (GRCm39) |
L80P |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,586,660 (GRCm39) |
N13423K |
possibly damaging |
Het |
Usp10 |
T |
A |
8: 120,681,553 (GRCm39) |
L670Q |
probably damaging |
Het |
Usp4 |
T |
A |
9: 108,245,222 (GRCm39) |
|
probably benign |
Het |
Vmn1r72 |
T |
A |
7: 11,403,963 (GRCm39) |
T162S |
possibly damaging |
Het |
Zmym5 |
T |
C |
14: 57,034,083 (GRCm39) |
N376S |
probably benign |
Het |
Zswim6 |
G |
T |
13: 107,863,466 (GRCm39) |
|
noncoding transcript |
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 |
R3844:Sri
|
UTSW |
5 |
8,114,576 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TGAATGCAGACTGTTGTCATGAC -3'
(R):5'- AAGAAGTCCACTAACCTCTCTGG -3'
Sequencing Primer
(F):5'- AGGCATTCCTTTAAAGAAATGCTAC -3'
(R):5'- CCTCTCTGGTAAACTGAAATGGC -3'
|
Posted On |
2015-06-24 |