Incidental Mutation 'R2025:Slc8a1'
ID |
220543 |
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 |
040034-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2025 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
81680534-82045806 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 81956541 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 166
(S166C)
|
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: S166C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083725 Gene: ENSMUSG00000054640 AA Change: S166C
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: S166C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132809 Gene: ENSMUSG00000054640 AA Change: S166C
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: S166C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126373 Gene: ENSMUSG00000054640 AA Change: S166C
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
|
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
T |
C |
14: 118,790,737 (GRCm39) |
M757V |
probably benign |
Het |
Abitram |
T |
A |
4: 56,805,916 (GRCm39) |
I138N |
probably damaging |
Het |
Acan |
T |
G |
7: 78,750,970 (GRCm39) |
S1914A |
probably benign |
Het |
Axin2 |
T |
A |
11: 108,833,904 (GRCm39) |
V617D |
probably damaging |
Het |
Bhlhe22 |
A |
G |
3: 18,109,975 (GRCm39) |
S342G |
probably benign |
Het |
Cald1 |
AAGAGAGAGAGAGAG |
AAGAGAGAGAGAG |
6: 34,723,108 (GRCm39) |
|
probably null |
Het |
Ccdc34 |
A |
G |
2: 109,862,731 (GRCm39) |
K179E |
possibly damaging |
Het |
Clasp1 |
A |
G |
1: 118,432,629 (GRCm39) |
T208A |
probably damaging |
Het |
Crabp1 |
C |
T |
9: 54,675,752 (GRCm39) |
R112* |
probably null |
Het |
Cstdc1 |
T |
C |
2: 148,624,148 (GRCm39) |
F41L |
probably damaging |
Het |
D130040H23Rik |
A |
G |
8: 69,755,525 (GRCm39) |
N310S |
probably benign |
Het |
Dalrd3 |
T |
C |
9: 108,448,284 (GRCm39) |
I278T |
probably benign |
Het |
Dbp |
C |
A |
7: 45,357,700 (GRCm39) |
D89E |
probably benign |
Het |
Dennd2c |
A |
G |
3: 103,039,005 (GRCm39) |
D51G |
possibly damaging |
Het |
Dido1 |
A |
T |
2: 180,330,974 (GRCm39) |
L158* |
probably null |
Het |
Disp1 |
G |
T |
1: 182,869,767 (GRCm39) |
F884L |
probably damaging |
Het |
Dmrtb1 |
T |
C |
4: 107,540,782 (GRCm39) |
D193G |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,950,133 (GRCm39) |
D1984G |
probably damaging |
Het |
Dpf2 |
T |
C |
19: 5,952,781 (GRCm39) |
Y218C |
possibly damaging |
Het |
Dsg4 |
C |
T |
18: 20,599,693 (GRCm39) |
Q770* |
probably null |
Het |
Efemp1 |
A |
T |
11: 28,864,696 (GRCm39) |
Y250F |
possibly damaging |
Het |
Erbin |
A |
T |
13: 103,966,703 (GRCm39) |
I1249N |
probably benign |
Het |
F5 |
A |
G |
1: 164,037,044 (GRCm39) |
K1928E |
probably benign |
Het |
Fhip1b |
A |
G |
7: 105,038,143 (GRCm39) |
V260A |
probably damaging |
Het |
Gdf11 |
T |
A |
10: 128,727,314 (GRCm39) |
I81F |
probably damaging |
Het |
Gm10518 |
T |
A |
1: 179,631,483 (GRCm39) |
|
probably benign |
Het |
Grb10 |
G |
C |
11: 11,920,576 (GRCm39) |
S14* |
probably null |
Het |
Greb1l |
A |
T |
18: 10,515,221 (GRCm39) |
Y562F |
possibly damaging |
Het |
Gtf2ird1 |
T |
C |
5: 134,392,788 (GRCm39) |
E789G |
probably damaging |
Het |
Hook3 |
T |
C |
8: 26,528,126 (GRCm39) |
E588G |
probably damaging |
Het |
Hpx |
A |
G |
7: 105,244,311 (GRCm39) |
S266P |
probably damaging |
Het |
Hs6st3 |
A |
G |
14: 120,106,801 (GRCm39) |
D403G |
probably damaging |
Het |
Igf2bp1 |
A |
G |
11: 95,864,996 (GRCm39) |
V151A |
possibly damaging |
Het |
Itga11 |
C |
T |
9: 62,670,093 (GRCm39) |
T739I |
probably damaging |
Het |
Kalrn |
T |
C |
16: 34,010,106 (GRCm39) |
I702V |
probably damaging |
Het |
Kif2b |
C |
T |
11: 91,468,172 (GRCm39) |
S37N |
probably damaging |
Het |
Kng2 |
T |
A |
16: 22,819,325 (GRCm39) |
D237V |
probably benign |
Het |
Krtap27-1 |
C |
A |
16: 88,468,173 (GRCm39) |
V124L |
possibly damaging |
Het |
Lig4 |
A |
T |
8: 10,022,436 (GRCm39) |
L448Q |
probably damaging |
Het |
Macf1 |
C |
T |
4: 123,265,711 (GRCm39) |
A4821T |
probably damaging |
Het |
Msh5 |
T |
A |
17: 35,251,768 (GRCm39) |
I431F |
possibly damaging |
Het |
Ndufa10 |
A |
G |
1: 92,367,614 (GRCm39) |
Y339H |
probably damaging |
Het |
Nin |
T |
A |
12: 70,076,782 (GRCm39) |
Q1091L |
probably damaging |
Het |
Nom1 |
A |
C |
5: 29,651,849 (GRCm39) |
D729A |
probably damaging |
Het |
Or52e8 |
C |
A |
7: 104,624,451 (GRCm39) |
G247V |
probably benign |
Het |
P2ry14 |
A |
T |
3: 59,022,866 (GRCm39) |
V207E |
probably damaging |
Het |
Pdss2 |
A |
T |
10: 43,269,871 (GRCm39) |
N238I |
possibly damaging |
Het |
Pkn1 |
A |
G |
8: 84,398,007 (GRCm39) |
V795A |
probably damaging |
Het |
Pla2g6 |
A |
C |
15: 79,170,964 (GRCm39) |
L804R |
probably damaging |
Het |
Poglut1 |
A |
T |
16: 38,358,267 (GRCm39) |
|
probably null |
Het |
Prkcz |
A |
T |
4: 155,374,167 (GRCm39) |
V83D |
probably damaging |
Het |
Prss50 |
T |
C |
9: 110,690,328 (GRCm39) |
F157S |
probably benign |
Het |
Psors1c2 |
A |
G |
17: 35,845,099 (GRCm39) |
|
probably benign |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Rab7 |
G |
A |
6: 87,981,161 (GRCm39) |
L174F |
probably damaging |
Het |
Rapgef4 |
A |
G |
2: 72,073,083 (GRCm39) |
T790A |
probably benign |
Het |
Rb1cc1 |
G |
T |
1: 6,315,533 (GRCm39) |
V503L |
probably damaging |
Het |
Sbf1 |
T |
A |
15: 89,186,933 (GRCm39) |
E815V |
probably damaging |
Het |
Setd3 |
T |
A |
12: 108,126,526 (GRCm39) |
E104V |
probably damaging |
Het |
Slc39a5 |
G |
T |
10: 128,234,280 (GRCm39) |
L208M |
probably damaging |
Het |
Slc39a5 |
A |
T |
10: 128,234,279 (GRCm39) |
L208Q |
probably damaging |
Het |
Slc3a1 |
T |
G |
17: 85,340,273 (GRCm39) |
Y232D |
probably damaging |
Het |
Stard9 |
T |
A |
2: 120,532,879 (GRCm39) |
D3045E |
probably benign |
Het |
Stk4 |
C |
A |
2: 163,938,751 (GRCm39) |
D206E |
probably damaging |
Het |
Syn3 |
T |
C |
10: 86,302,846 (GRCm39) |
D103G |
probably damaging |
Het |
Tbc1d30 |
T |
A |
10: 121,115,051 (GRCm39) |
Y369F |
probably benign |
Het |
Tenm2 |
G |
T |
11: 35,938,091 (GRCm39) |
Y1527* |
probably null |
Het |
Tfg |
T |
C |
16: 56,525,988 (GRCm39) |
K85R |
possibly damaging |
Het |
Timp3 |
T |
C |
10: 86,136,749 (GRCm39) |
L11P |
probably damaging |
Het |
Tmem144 |
A |
T |
3: 79,735,018 (GRCm39) |
|
probably null |
Het |
Tmtc4 |
T |
C |
14: 123,158,677 (GRCm39) |
N682S |
probably benign |
Het |
Tnks2 |
C |
T |
19: 36,843,466 (GRCm39) |
L464F |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,221,107 (GRCm39) |
F2615L |
probably benign |
Het |
Trio |
T |
C |
15: 27,744,223 (GRCm39) |
K2570E |
probably damaging |
Het |
Trio |
T |
A |
15: 27,774,013 (GRCm39) |
D673V |
probably damaging |
Het |
Ublcp1 |
A |
T |
11: 44,356,458 (GRCm39) |
C87S |
probably benign |
Het |
Unc13a |
C |
T |
8: 72,092,412 (GRCm39) |
E1386K |
possibly damaging |
Het |
Wdr41 |
C |
T |
13: 95,155,456 (GRCm39) |
H404Y |
probably damaging |
Het |
Zfp280b |
T |
C |
10: 75,874,328 (GRCm39) |
L69S |
probably damaging |
Het |
Zfp346 |
T |
C |
13: 55,280,121 (GRCm39) |
S282P |
probably damaging |
Het |
Zfp579 |
C |
A |
7: 4,996,520 (GRCm39) |
E464* |
probably null |
Het |
Zfp78 |
T |
A |
7: 6,378,513 (GRCm39) |
|
probably null |
Het |
Zswim9 |
T |
C |
7: 13,003,292 (GRCm39) |
E186G |
probably 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 |
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 |
|
R6670:Slc8a1
|
UTSW |
17 |
81,956,883 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GTAAGCAAGCCTTCCCAGAC -3'
(R):5'- AGACCGGTTTATGTCCTCTATAGAG -3'
Sequencing Primer
(F):5'- GACCTCCACAACTCCAGGAG -3'
(R):5'- GGTCATCACCTCTCAAGAGAAAG -3'
|
Posted On |
2014-08-25 |