Incidental Mutation 'R1187:Sri'
| ID |
102236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sri
|
| Ensembl Gene |
ENSMUSG00000003161 |
| Gene Name |
sorcin |
| Synonyms |
Sor, 2210417O06Rik, 2900070H08Rik |
| MMRRC Submission |
039259-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R1187 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
8046078-8069379 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8059416 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 52
(Y52H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086165
(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: Y52H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086165
Gene: ENSMUSG00000003161
AA Change: Y52H
| 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 damaging
Transcript: ENSMUST00000148633
AA Change: Y67H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118221
Gene: ENSMUSG00000003161
AA Change: Y67H
| 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: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 89.2%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
T |
11: 9,528,981 (GRCm38) |
M4276I |
probably benign |
Het |
| Apol7b |
A |
T |
15: 77,423,403 (GRCm38) |
F297L |
possibly damaging |
Het |
| C330027C09Rik |
T |
A |
16: 49,000,293 (GRCm38) |
N132K |
probably damaging |
Het |
| Capsl |
C |
T |
15: 9,457,721 (GRCm38) |
R9W |
probably damaging |
Het |
| Catsperb |
T |
C |
12: 101,625,732 (GRCm38) |
V1107A |
probably benign |
Het |
| Clca1 |
T |
C |
3: 145,009,743 (GRCm38) |
I544M |
probably benign |
Het |
| Cma2 |
T |
C |
14: 55,972,823 (GRCm38) |
V55A |
probably benign |
Het |
| Col10a1 |
A |
T |
10: 34,394,838 (GRCm38) |
I269F |
probably benign |
Het |
| Col26a1 |
G |
A |
5: 136,744,166 (GRCm38) |
H385Y |
probably damaging |
Het |
| Ctdp1 |
A |
G |
18: 80,449,487 (GRCm38) |
Y598H |
probably damaging |
Het |
| Dnajc1 |
A |
G |
2: 18,284,709 (GRCm38) |
S296P |
probably benign |
Het |
| Dvl2 |
A |
T |
11: 70,006,136 (GRCm38) |
T250S |
probably benign |
Het |
| Etv1 |
A |
G |
12: 38,865,564 (GRCm38) |
Y410C |
probably damaging |
Het |
| Gm38394 |
G |
A |
1: 133,659,203 (GRCm38) |
T132I |
probably damaging |
Het |
| Krcc1 |
A |
T |
6: 71,284,628 (GRCm38) |
K215* |
probably null |
Het |
| Lrr1 |
A |
T |
12: 69,175,022 (GRCm38) |
T313S |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 158,160,402 (GRCm38) |
E1234V |
probably damaging |
Het |
| Mepe |
G |
A |
5: 104,338,248 (GRCm38) |
R418H |
probably damaging |
Het |
| Myrfl |
G |
A |
10: 116,831,542 (GRCm38) |
T331I |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,194,528 (GRCm38) |
W26R |
probably damaging |
Het |
| Nsrp1 |
G |
A |
11: 77,046,027 (GRCm38) |
P448S |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,208,829 (GRCm38) |
G206R |
probably benign |
Het |
| Olfml2a |
A |
G |
2: 38,959,813 (GRCm38) |
N514D |
probably damaging |
Het |
| Olfr1390 |
T |
G |
11: 49,340,590 (GRCm38) |
D19E |
probably damaging |
Het |
| Olfr167 |
T |
C |
16: 19,515,046 (GRCm38) |
T197A |
probably benign |
Het |
| Pcdhb1 |
C |
T |
18: 37,265,544 (GRCm38) |
R183C |
probably damaging |
Het |
| Phf14 |
T |
G |
6: 11,941,496 (GRCm38) |
C41G |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,498,051 (GRCm38) |
V499A |
possibly damaging |
Het |
| Plcb4 |
A |
G |
2: 135,968,394 (GRCm38) |
I638V |
probably benign |
Het |
| Ppp4c |
T |
A |
7: 126,786,200 (GRCm38) |
I296F |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,759,746 (GRCm38) |
V2388A |
probably damaging |
Het |
| Rgl1 |
T |
C |
1: 152,544,433 (GRCm38) |
D353G |
probably benign |
Het |
| Rnf19b |
T |
G |
4: 129,075,567 (GRCm38) |
|
probably null |
Het |
| Ryr3 |
C |
T |
2: 112,958,176 (GRCm38) |
D190N |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,838,646 (GRCm38) |
|
silent |
Het |
| Sema3e |
G |
A |
5: 14,232,084 (GRCm38) |
M411I |
probably damaging |
Het |
| Sgsh |
A |
T |
11: 119,346,578 (GRCm38) |
Y403* |
probably null |
Het |
| Sh2d7 |
T |
A |
9: 54,541,187 (GRCm38) |
L164Q |
probably benign |
Het |
| Slfn8 |
A |
T |
11: 83,003,488 (GRCm38) |
V775E |
probably damaging |
Het |
| Smgc |
G |
A |
15: 91,860,600 (GRCm38) |
G287S |
probably damaging |
Het |
| Soat1 |
T |
A |
1: 156,434,175 (GRCm38) |
Y421F |
probably damaging |
Het |
| Stat4 |
C |
A |
1: 52,076,677 (GRCm38) |
Q259K |
probably damaging |
Het |
| Trpm5 |
A |
G |
7: 143,074,469 (GRCm38) |
L1023P |
probably damaging |
Het |
| Ush1c |
T |
A |
7: 46,208,914 (GRCm38) |
N650I |
probably benign |
Het |
| Vmn2r8 |
G |
T |
5: 108,803,219 (GRCm38) |
S120* |
probably null |
Het |
| Zbtb14 |
C |
A |
17: 69,388,502 (GRCm38) |
F398L |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,611,887 (GRCm38) |
K250R |
probably damaging |
Het |
| Zfp629 |
A |
G |
7: 127,610,229 (GRCm38) |
S803P |
probably benign |
Het |
| Zfp758 |
T |
A |
17: 22,375,190 (GRCm38) |
I187N |
probably benign |
Het |
| Zfp85 |
T |
A |
13: 67,749,716 (GRCm38) |
K79I |
probably damaging |
Het |
|
| Other mutations in Sri |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01646:Sri
|
APN |
5 |
8,063,755 (GRCm38) |
splice site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTTGGCTCAAACTGAATGCAGAC -3'
(R):5'- TCTCACTGGTTCCAATGGTCCTGG -3'
Sequencing Primer
(F):5'- CTCAAACTGAATGCAGACTGTTGTC -3'
(R):5'- GTTCCAATGGTCCTGGAATACAAG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation