Incidental Mutation 'R6670:Slc8a1'
ID |
527120 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc8a1
|
Ensembl Gene |
ENSMUSG00000054640 |
Gene Name |
solute carrier family 8 (sodium/calcium exchanger), member 1 |
Synonyms |
Ncx1, D930008O12Rik |
MMRRC Submission |
044790-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6670 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
81680534-82045806 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 81956883 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 52
(C52R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126373
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086538]
[ENSMUST00000163123]
[ENSMUST00000163680]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086538
AA Change: C52R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000083725 Gene: ENSMUSG00000054640 AA Change: C52R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
77 |
248 |
3.8e-38 |
PFAM |
Pfam:Na_Ca_ex_C
|
251 |
386 |
2e-53 |
PFAM |
Calx_beta
|
393 |
493 |
1.28e-49 |
SMART |
Calx_beta
|
524 |
624 |
8.25e-44 |
SMART |
low complexity region
|
754 |
765 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
796 |
961 |
2.4e-29 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163123
AA Change: C52R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000132809 Gene: ENSMUSG00000054640 AA Change: C52R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
87 |
246 |
4.6e-38 |
PFAM |
coiled coil region
|
313 |
332 |
N/A |
INTRINSIC |
Calx_beta
|
393 |
493 |
1.28e-49 |
SMART |
Calx_beta
|
524 |
624 |
8.25e-44 |
SMART |
low complexity region
|
742 |
753 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
794 |
947 |
1.2e-28 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163680
AA Change: C52R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126373 Gene: ENSMUSG00000054640 AA Change: C52R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
77 |
248 |
3.8e-38 |
PFAM |
Pfam:Na_Ca_ex_C
|
251 |
386 |
2e-53 |
PFAM |
Calx_beta
|
393 |
493 |
1.28e-49 |
SMART |
Calx_beta
|
524 |
624 |
8.25e-44 |
SMART |
low complexity region
|
754 |
765 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
796 |
961 |
2.4e-29 |
PFAM |
|
Meta Mutation Damage Score |
0.8839 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
Validation Efficiency |
100% (38/38) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004] PHENOTYPE: Homozygotes for targeted null mutations have underdeveloped, nonbeating hearts with massive apoptosis of myocytes, a dilated pericardium and die around embryonic day 9.5. Heterozygotes exhibit altered responses to experimental cardiac pressure overload. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
G |
19: 43,827,850 (GRCm39) |
1544 |
probably benign |
Het |
Acsm3 |
T |
A |
7: 119,379,978 (GRCm39) |
|
probably null |
Het |
AW551984 |
T |
C |
9: 39,504,292 (GRCm39) |
D558G |
probably damaging |
Het |
Bcl9l |
GTGAACATGAACATGAACATGAAC |
GTGAACATGAACATGAACATGAACATGAAC |
9: 44,418,369 (GRCm39) |
|
probably benign |
Het |
Brd8dc |
A |
G |
18: 34,719,319 (GRCm39) |
V167A |
possibly damaging |
Het |
Ccdc12 |
T |
G |
9: 110,537,595 (GRCm39) |
|
probably null |
Het |
Ctsl |
T |
C |
13: 64,511,916 (GRCm39) |
|
probably null |
Het |
Cul1 |
T |
A |
6: 47,494,068 (GRCm39) |
D460E |
probably damaging |
Het |
Dnttip2 |
T |
A |
3: 122,069,870 (GRCm39) |
S362T |
probably damaging |
Het |
Fbxw16 |
T |
A |
9: 109,267,280 (GRCm39) |
D317V |
probably damaging |
Het |
Fbxw9 |
T |
A |
8: 85,788,839 (GRCm39) |
N196K |
possibly damaging |
Het |
Grap |
A |
G |
11: 61,551,064 (GRCm39) |
D32G |
probably damaging |
Het |
Hhatl |
T |
C |
9: 121,618,137 (GRCm39) |
D206G |
probably damaging |
Het |
Hrnr |
A |
T |
3: 93,239,192 (GRCm39) |
Q3143H |
unknown |
Het |
Ighv1-62-1 |
T |
C |
12: 115,350,529 (GRCm39) |
Y46C |
probably damaging |
Het |
Krtap16-3 |
A |
T |
16: 88,759,540 (GRCm39) |
Y58N |
unknown |
Het |
Mef2c |
A |
G |
13: 83,810,716 (GRCm39) |
K384R |
probably damaging |
Het |
Nalcn |
A |
G |
14: 123,702,084 (GRCm39) |
Y476H |
possibly damaging |
Het |
Oxgr1 |
A |
T |
14: 120,259,669 (GRCm39) |
N179K |
probably damaging |
Het |
Polk |
G |
A |
13: 96,633,138 (GRCm39) |
Q302* |
probably null |
Het |
Rab3gap1 |
T |
A |
1: 127,858,512 (GRCm39) |
S540R |
probably benign |
Het |
Samd5 |
A |
T |
10: 9,504,808 (GRCm39) |
|
probably null |
Het |
Sema6d |
GTGATAC |
G |
2: 124,496,762 (GRCm39) |
|
probably benign |
Het |
Slc1a6 |
C |
A |
10: 78,623,646 (GRCm39) |
A15D |
probably benign |
Het |
Sod2 |
T |
A |
17: 13,227,252 (GRCm39) |
Y69N |
possibly damaging |
Het |
Tank |
T |
C |
2: 61,474,768 (GRCm39) |
|
probably null |
Het |
Tbc1d23 |
A |
T |
16: 57,034,580 (GRCm39) |
I73N |
probably benign |
Het |
Tnf |
A |
C |
17: 35,420,800 (GRCm39) |
M6R |
possibly damaging |
Het |
Trmt2a |
C |
T |
16: 18,068,341 (GRCm39) |
A16V |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,556,055 (GRCm39) |
Y21990H |
probably damaging |
Het |
Uaca |
C |
T |
9: 60,779,306 (GRCm39) |
S1231L |
probably benign |
Het |
Ubr1 |
A |
G |
2: 120,754,611 (GRCm39) |
|
probably null |
Het |
Unc13b |
A |
G |
4: 43,255,562 (GRCm39) |
D3849G |
probably damaging |
Het |
Vmn2r75 |
T |
A |
7: 85,797,644 (GRCm39) |
D723V |
probably damaging |
Het |
Wnt2 |
C |
A |
6: 18,028,091 (GRCm39) |
V48L |
possibly damaging |
Het |
|
Other mutations in Slc8a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00549:Slc8a1
|
APN |
17 |
81,956,600 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00572:Slc8a1
|
APN |
17 |
81,696,155 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00777:Slc8a1
|
APN |
17 |
81,956,009 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00857:Slc8a1
|
APN |
17 |
81,955,308 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01068:Slc8a1
|
APN |
17 |
81,696,371 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01089:Slc8a1
|
APN |
17 |
81,696,310 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01089:Slc8a1
|
APN |
17 |
81,955,710 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01510:Slc8a1
|
APN |
17 |
81,955,794 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01677:Slc8a1
|
APN |
17 |
81,956,036 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01862:Slc8a1
|
APN |
17 |
81,749,630 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02003:Slc8a1
|
APN |
17 |
81,735,625 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02500:Slc8a1
|
APN |
17 |
81,696,142 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02556:Slc8a1
|
APN |
17 |
81,956,173 (GRCm39) |
missense |
probably benign |
0.24 |
IGL02800:Slc8a1
|
APN |
17 |
81,715,752 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03308:Slc8a1
|
APN |
17 |
81,749,624 (GRCm39) |
unclassified |
probably benign |
|
IGL03391:Slc8a1
|
APN |
17 |
81,740,067 (GRCm39) |
splice site |
probably benign |
|
cardinal
|
UTSW |
17 |
81,955,836 (GRCm39) |
missense |
probably damaging |
0.99 |
encyclical
|
UTSW |
17 |
81,956,883 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4498001:Slc8a1
|
UTSW |
17 |
81,956,269 (GRCm39) |
nonsense |
probably null |
|
R0067:Slc8a1
|
UTSW |
17 |
81,745,188 (GRCm39) |
missense |
probably benign |
0.00 |
R0067:Slc8a1
|
UTSW |
17 |
81,745,188 (GRCm39) |
missense |
probably benign |
0.00 |
R0485:Slc8a1
|
UTSW |
17 |
81,955,422 (GRCm39) |
missense |
probably damaging |
0.99 |
R0667:Slc8a1
|
UTSW |
17 |
81,956,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R0845:Slc8a1
|
UTSW |
17 |
81,745,177 (GRCm39) |
missense |
probably benign |
0.05 |
R1073:Slc8a1
|
UTSW |
17 |
81,955,836 (GRCm39) |
missense |
probably damaging |
0.99 |
R1417:Slc8a1
|
UTSW |
17 |
81,715,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R1510:Slc8a1
|
UTSW |
17 |
81,955,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R1546:Slc8a1
|
UTSW |
17 |
81,955,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R1625:Slc8a1
|
UTSW |
17 |
81,956,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R1806:Slc8a1
|
UTSW |
17 |
81,955,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R1879:Slc8a1
|
UTSW |
17 |
81,955,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R2025:Slc8a1
|
UTSW |
17 |
81,956,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R2187:Slc8a1
|
UTSW |
17 |
81,955,982 (GRCm39) |
missense |
possibly damaging |
0.48 |
R2198:Slc8a1
|
UTSW |
17 |
81,715,685 (GRCm39) |
nonsense |
probably null |
|
R3856:Slc8a1
|
UTSW |
17 |
81,955,803 (GRCm39) |
missense |
probably benign |
|
R4067:Slc8a1
|
UTSW |
17 |
81,955,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R4224:Slc8a1
|
UTSW |
17 |
81,956,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R4225:Slc8a1
|
UTSW |
17 |
81,956,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R5028:Slc8a1
|
UTSW |
17 |
81,956,702 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5307:Slc8a1
|
UTSW |
17 |
81,956,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R5766:Slc8a1
|
UTSW |
17 |
81,956,390 (GRCm39) |
missense |
probably damaging |
0.97 |
R5787:Slc8a1
|
UTSW |
17 |
81,696,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R5902:Slc8a1
|
UTSW |
17 |
81,715,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R5913:Slc8a1
|
UTSW |
17 |
81,955,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R6017:Slc8a1
|
UTSW |
17 |
81,955,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R6481:Slc8a1
|
UTSW |
17 |
81,696,347 (GRCm39) |
missense |
probably benign |
|
R6714:Slc8a1
|
UTSW |
17 |
81,715,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R6914:Slc8a1
|
UTSW |
17 |
81,715,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R6919:Slc8a1
|
UTSW |
17 |
81,696,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R6942:Slc8a1
|
UTSW |
17 |
81,715,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R7057:Slc8a1
|
UTSW |
17 |
81,956,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R7431:Slc8a1
|
UTSW |
17 |
81,749,092 (GRCm39) |
missense |
probably benign |
0.00 |
R7447:Slc8a1
|
UTSW |
17 |
81,956,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R7480:Slc8a1
|
UTSW |
17 |
81,956,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R7572:Slc8a1
|
UTSW |
17 |
81,749,200 (GRCm39) |
critical splice donor site |
probably null |
|
R8056:Slc8a1
|
UTSW |
17 |
81,955,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R8326:Slc8a1
|
UTSW |
17 |
81,715,535 (GRCm39) |
missense |
probably damaging |
0.98 |
R8782:Slc8a1
|
UTSW |
17 |
81,955,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R8905:Slc8a1
|
UTSW |
17 |
81,749,084 (GRCm39) |
missense |
probably benign |
0.05 |
R8987:Slc8a1
|
UTSW |
17 |
81,955,282 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9057:Slc8a1
|
UTSW |
17 |
81,955,479 (GRCm39) |
missense |
probably benign |
|
R9441:Slc8a1
|
UTSW |
17 |
81,956,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R9616:Slc8a1
|
UTSW |
17 |
81,955,407 (GRCm39) |
missense |
probably benign |
0.25 |
R9657:Slc8a1
|
UTSW |
17 |
81,955,244 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Slc8a1
|
UTSW |
17 |
81,740,191 (GRCm39) |
missense |
probably benign |
0.11 |
Z1186:Slc8a1
|
UTSW |
17 |
81,955,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTCCAGATTCTCACCGTCG -3'
(R):5'- GGAGCAGTTGGAAGTCTTATTGTAC -3'
Sequencing Primer
(F):5'- AGATTCTCACCGTCGTCTTGGTG -3'
(R):5'- GTACAACATGCTTCGATTAAGTCTCC -3'
|
Posted On |
2018-07-23 |