Incidental Mutation 'R8782:Slc8a1'
| ID |
670362 |
| 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 |
068630-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8782 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
81680534-82045806 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81955442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 532
(D532G)
|
| 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: D532G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083725
Gene: ENSMUSG00000054640
AA Change: D532G
| 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: D532G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132809
Gene: ENSMUSG00000054640
AA Change: D532G
| 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: D532G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126373
Gene: ENSMUSG00000054640
AA Change: D532G
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (73/74) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
A |
G |
9: 55,910,242 (GRCm39) |
|
probably null |
Het |
| Abhd16b |
G |
T |
2: 181,136,208 (GRCm39) |
R370L |
probably benign |
Het |
| Acox2 |
T |
A |
14: 8,250,035 (GRCm38) |
T342S |
probably damaging |
Het |
| Adamts12 |
A |
T |
15: 11,237,678 (GRCm39) |
Q329L |
probably damaging |
Het |
| Aimp1 |
T |
C |
3: 132,373,242 (GRCm39) |
M233V |
possibly damaging |
Het |
| Atg16l1 |
A |
G |
1: 87,714,010 (GRCm39) |
T474A |
possibly damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,501,533 (GRCm39) |
T57A |
possibly damaging |
Het |
| Bcat2 |
A |
G |
7: 45,234,917 (GRCm39) |
D205G |
probably benign |
Het |
| Brd1 |
G |
T |
15: 88,614,834 (GRCm39) |
C20* |
probably null |
Het |
| Camsap2 |
T |
C |
1: 136,204,957 (GRCm39) |
M519V |
|
Het |
| Caprin1 |
T |
A |
2: 103,603,133 (GRCm39) |
T477S |
probably benign |
Het |
| Cdk5rap2 |
G |
T |
4: 70,161,712 (GRCm39) |
Q1516K |
possibly damaging |
Het |
| Cep97 |
T |
C |
16: 55,726,084 (GRCm39) |
D673G |
probably benign |
Het |
| Chat |
A |
T |
14: 32,146,155 (GRCm39) |
D339E |
probably benign |
Het |
| Col28a1 |
G |
A |
6: 8,175,227 (GRCm39) |
S207F |
unknown |
Het |
| Commd10 |
T |
A |
18: 47,096,809 (GRCm39) |
L72Q |
probably damaging |
Het |
| Crim1 |
T |
C |
17: 78,508,306 (GRCm39) |
C37R |
probably damaging |
Het |
| Csgalnact1 |
T |
A |
8: 68,811,307 (GRCm39) |
K454N |
probably damaging |
Het |
| Ctif |
G |
T |
18: 75,654,868 (GRCm39) |
H219Q |
probably benign |
Het |
| Ddx10 |
A |
T |
9: 53,146,588 (GRCm39) |
F211L |
probably damaging |
Het |
| Dhrs2 |
A |
T |
14: 55,473,538 (GRCm39) |
I66F |
possibly damaging |
Het |
| Dmtf1 |
A |
T |
5: 9,179,168 (GRCm39) |
D343E |
probably damaging |
Het |
| Dync2i1 |
C |
T |
12: 116,205,332 (GRCm39) |
R419H |
probably damaging |
Het |
| Fam120b |
A |
T |
17: 15,622,472 (GRCm39) |
Q150L |
probably damaging |
Het |
| Fam217a |
G |
A |
13: 35,095,033 (GRCm39) |
P242L |
probably benign |
Het |
| Gcnt2 |
A |
G |
13: 41,072,229 (GRCm39) |
T291A |
probably damaging |
Het |
| Gm14305 |
T |
G |
2: 176,413,213 (GRCm39) |
C368W |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,404,149 (GRCm39) |
D307G |
probably damaging |
Het |
| Hcls1 |
A |
G |
16: 36,777,663 (GRCm39) |
M261V |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,540,636 (GRCm39) |
M2891T |
probably benign |
Het |
| Ighv1-31 |
A |
T |
12: 114,793,305 (GRCm39) |
W5R |
possibly damaging |
Het |
| Impg2 |
A |
G |
16: 56,079,818 (GRCm39) |
T541A |
probably damaging |
Het |
| Ints1 |
A |
T |
5: 139,744,952 (GRCm39) |
L1452Q |
probably benign |
Het |
| Kcnc2 |
T |
A |
10: 112,292,437 (GRCm39) |
S542T |
probably benign |
Het |
| Kif18a |
C |
T |
2: 109,127,118 (GRCm39) |
R351C |
probably damaging |
Het |
| Lactbl1 |
T |
G |
4: 136,358,329 (GRCm39) |
L100R |
possibly damaging |
Het |
| Loxl3 |
T |
C |
6: 83,025,051 (GRCm39) |
S260P |
probably benign |
Het |
| Lrba |
A |
T |
3: 86,549,976 (GRCm39) |
Y2315F |
probably benign |
Het |
| Lrrc32 |
A |
T |
7: 98,148,270 (GRCm39) |
N350I |
probably damaging |
Het |
| Lyn |
C |
A |
4: 3,783,055 (GRCm39) |
F429L |
probably damaging |
Het |
| Matk |
A |
G |
10: 81,098,294 (GRCm39) |
K402E |
probably damaging |
Het |
| Mau2 |
T |
C |
8: 70,485,845 (GRCm39) |
E121G |
possibly damaging |
Het |
| Mrgprx2 |
A |
G |
7: 48,132,299 (GRCm39) |
L173P |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,298,496 (GRCm39) |
T369A |
possibly damaging |
Het |
| Myh6 |
A |
G |
14: 55,187,357 (GRCm39) |
L1308P |
possibly damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,459,873 (GRCm39) |
D1895G |
probably benign |
Het |
| Ncr1 |
A |
G |
7: 4,340,763 (GRCm39) |
T6A |
probably benign |
Het |
| Neb |
T |
A |
2: 52,078,785 (GRCm39) |
E5819D |
probably benign |
Het |
| Neurod4 |
T |
C |
10: 130,106,948 (GRCm39) |
N109D |
probably damaging |
Het |
| Nsd2 |
A |
T |
5: 34,000,485 (GRCm39) |
M1L |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,882,540 (GRCm39) |
Y64C |
probably damaging |
Het |
| Olfm2 |
T |
A |
9: 20,579,501 (GRCm39) |
N417Y |
probably damaging |
Het |
| Oog3 |
T |
A |
4: 143,885,962 (GRCm39) |
D212V |
probably benign |
Het |
| Or13c25 |
T |
A |
4: 52,911,693 (GRCm39) |
M34L |
probably benign |
Het |
| Or5p1 |
A |
T |
7: 107,916,296 (GRCm39) |
H65L |
probably damaging |
Het |
| Parp1 |
A |
G |
1: 180,417,127 (GRCm39) |
K637R |
probably benign |
Het |
| Pcdhga3 |
T |
C |
18: 37,807,865 (GRCm39) |
L106P |
probably damaging |
Het |
| Pdk4 |
T |
C |
6: 5,494,962 (GRCm39) |
N67S |
possibly damaging |
Het |
| Plcxd3 |
A |
G |
15: 4,546,250 (GRCm39) |
T85A |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,300,220 (GRCm39) |
Y1621C |
probably damaging |
Het |
| Pnliprp1 |
T |
A |
19: 58,719,025 (GRCm39) |
M108K |
probably damaging |
Het |
| Pou3f1 |
GCACCACCACCACCACCAC |
GCACCACCACCACCAC |
4: 124,552,807 (GRCm39) |
|
probably benign |
Het |
| Prl8a1 |
A |
T |
13: 27,758,011 (GRCm39) |
C233S |
probably damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Sgo2a |
T |
A |
1: 58,056,616 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
A |
T |
5: 35,871,548 (GRCm39) |
M328K |
possibly damaging |
Het |
| Sim1 |
A |
G |
10: 50,772,165 (GRCm39) |
E58G |
probably benign |
Het |
| Slc35e3 |
A |
G |
10: 117,580,798 (GRCm39) |
Y169H |
probably damaging |
Het |
| Speer4a1 |
T |
A |
5: 26,241,754 (GRCm39) |
H124L |
probably benign |
Het |
| Stab2 |
T |
A |
10: 86,735,685 (GRCm39) |
T1299S |
probably benign |
Het |
| Tesmin |
T |
C |
19: 3,445,965 (GRCm39) |
V237A |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,951,701 (GRCm39) |
I984N |
probably benign |
Het |
| Ube2q2 |
G |
A |
9: 55,070,354 (GRCm39) |
|
probably null |
Het |
| Vmn1r169 |
A |
G |
7: 23,277,403 (GRCm39) |
D265G |
possibly damaging |
Het |
| Vps13b |
G |
T |
15: 35,422,483 (GRCm39) |
V148L |
possibly damaging |
Het |
| Vwce |
T |
C |
19: 10,615,491 (GRCm39) |
V124A |
probably benign |
Het |
| Zc3h15 |
G |
A |
2: 83,491,787 (GRCm39) |
R292H |
probably benign |
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 |
|
|
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 |
|
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'- GAATTCGAGCTCTCCACAGG -3'
(R):5'- GATCTTCAAACCAGGGGAGAC -3'
Sequencing Primer
(F):5'- GCTCTCCACAGGTGTCCTCAAAG -3'
(R):5'- GAAATCAGAGTTGGCATCATTGATG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation