Incidental Mutation 'R1187:Sri'
ID |
102236 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sri
|
Ensembl Gene |
ENSMUSG00000003161 |
Gene Name |
sorcin |
Synonyms |
2210417O06Rik, 2900070H08Rik, Sor |
MMRRC Submission |
039259-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.195)
|
Stock # |
R1187 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
8096078-8119314 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8109416 bp (GRCm39)
|
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: 9,478,981 (GRCm39) |
M4276I |
probably benign |
Het |
Apol7b |
A |
T |
15: 77,307,603 (GRCm39) |
F297L |
possibly damaging |
Het |
Capsl |
C |
T |
15: 9,457,807 (GRCm39) |
R9W |
probably damaging |
Het |
Catsperb |
T |
C |
12: 101,591,991 (GRCm39) |
V1107A |
probably benign |
Het |
Cip2a |
T |
A |
16: 48,820,656 (GRCm39) |
N132K |
probably damaging |
Het |
Clca3a1 |
T |
C |
3: 144,715,504 (GRCm39) |
I544M |
probably benign |
Het |
Cma2 |
T |
C |
14: 56,210,280 (GRCm39) |
V55A |
probably benign |
Het |
Col10a1 |
A |
T |
10: 34,270,834 (GRCm39) |
I269F |
probably benign |
Het |
Col26a1 |
G |
A |
5: 136,773,020 (GRCm39) |
H385Y |
probably damaging |
Het |
Ctdp1 |
A |
G |
18: 80,492,702 (GRCm39) |
Y598H |
probably damaging |
Het |
Dnajc1 |
A |
G |
2: 18,289,520 (GRCm39) |
S296P |
probably benign |
Het |
Dvl2 |
A |
T |
11: 69,896,962 (GRCm39) |
T250S |
probably benign |
Het |
Etv1 |
A |
G |
12: 38,915,563 (GRCm39) |
Y410C |
probably damaging |
Het |
Krcc1 |
A |
T |
6: 71,261,612 (GRCm39) |
K215* |
probably null |
Het |
Lrr1 |
A |
T |
12: 69,221,796 (GRCm39) |
T313S |
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,866,039 (GRCm39) |
E1234V |
probably damaging |
Het |
Mepe |
G |
A |
5: 104,486,114 (GRCm39) |
R418H |
probably damaging |
Het |
Myrfl |
G |
A |
10: 116,667,447 (GRCm39) |
T331I |
probably damaging |
Het |
Nbeal1 |
T |
C |
1: 60,233,687 (GRCm39) |
W26R |
probably damaging |
Het |
Nsrp1 |
G |
A |
11: 76,936,853 (GRCm39) |
P448S |
probably benign |
Het |
Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
Olfml2a |
A |
G |
2: 38,849,825 (GRCm39) |
N514D |
probably damaging |
Het |
Or2l5 |
T |
C |
16: 19,333,796 (GRCm39) |
T197A |
probably benign |
Het |
Or2y17 |
T |
G |
11: 49,231,417 (GRCm39) |
D19E |
probably damaging |
Het |
Pcdhb1 |
C |
T |
18: 37,398,597 (GRCm39) |
R183C |
probably damaging |
Het |
Phf14 |
T |
G |
6: 11,941,495 (GRCm39) |
C41G |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,361,447 (GRCm39) |
V499A |
possibly damaging |
Het |
Plcb4 |
A |
G |
2: 135,810,314 (GRCm39) |
I638V |
probably benign |
Het |
Ppp4c |
T |
A |
7: 126,385,372 (GRCm39) |
I296F |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,577,610 (GRCm39) |
V2388A |
probably damaging |
Het |
Rgl1 |
T |
C |
1: 152,420,184 (GRCm39) |
D353G |
probably benign |
Het |
Rnf19b |
T |
G |
4: 128,969,360 (GRCm39) |
|
probably null |
Het |
Ryr3 |
C |
T |
2: 112,788,521 (GRCm39) |
D190N |
probably damaging |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Sema3e |
G |
A |
5: 14,282,098 (GRCm39) |
M411I |
probably damaging |
Het |
Sgsh |
A |
T |
11: 119,237,404 (GRCm39) |
Y403* |
probably null |
Het |
Sh2d7 |
T |
A |
9: 54,448,471 (GRCm39) |
L164Q |
probably benign |
Het |
Slfn8 |
A |
T |
11: 82,894,314 (GRCm39) |
V775E |
probably damaging |
Het |
Smgc |
G |
A |
15: 91,744,798 (GRCm39) |
G287S |
probably damaging |
Het |
Soat1 |
T |
A |
1: 156,261,745 (GRCm39) |
Y421F |
probably damaging |
Het |
Stat4 |
C |
A |
1: 52,115,836 (GRCm39) |
Q259K |
probably damaging |
Het |
Trpm5 |
A |
G |
7: 142,628,206 (GRCm39) |
L1023P |
probably damaging |
Het |
Ush1c |
T |
A |
7: 45,858,338 (GRCm39) |
N650I |
probably benign |
Het |
Vmn2r8 |
G |
T |
5: 108,951,085 (GRCm39) |
S120* |
probably null |
Het |
Zbed6 |
G |
A |
1: 133,586,941 (GRCm39) |
T132I |
probably damaging |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
Zfp629 |
A |
G |
7: 127,209,401 (GRCm39) |
S803P |
probably benign |
Het |
Zfp629 |
T |
C |
7: 127,211,059 (GRCm39) |
K250R |
probably damaging |
Het |
Zfp758 |
T |
A |
17: 22,594,171 (GRCm39) |
I187N |
probably benign |
Het |
Zfp85 |
T |
A |
13: 67,897,835 (GRCm39) |
K79I |
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 |
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 |
|
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 |