Incidental Mutation 'IGL01862:Slc8a1'
| ID |
178404 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc8a1
|
| Ensembl Gene |
ENSMUSG00000054640 |
| Gene Name |
solute carrier family 8 (sodium/calcium exchanger), member 1 |
| Synonyms |
Ncx1, D930008O12Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01862
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
81680534-82045806 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 81749630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086538]
[ENSMUST00000163123]
[ENSMUST00000163680]
[ENSMUST00000168858]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000086538
|
| SMART Domains |
Protein: ENSMUSP00000083725
Gene: ENSMUSG00000054640
| 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 benign
Transcript: ENSMUST00000163123
|
| SMART Domains |
Protein: ENSMUSP00000132809
Gene: ENSMUSG00000054640
| 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 benign
Transcript: ENSMUST00000163680
|
| SMART Domains |
Protein: ENSMUSP00000126373
Gene: ENSMUSG00000054640
| 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 benign
Transcript: ENSMUST00000168858
|
| Coding Region Coverage |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
T |
11: 109,837,997 (GRCm39) |
S1085* |
probably null |
Het |
| Akap9 |
T |
G |
5: 4,001,705 (GRCm39) |
S94A |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,115,856 (GRCm39) |
N3425K |
probably damaging |
Het |
| Anapc7 |
T |
A |
5: 122,578,182 (GRCm39) |
I389N |
probably benign |
Het |
| Aqp7 |
G |
A |
4: 41,045,321 (GRCm39) |
R20* |
probably null |
Het |
| Cacna1h |
C |
T |
17: 25,602,457 (GRCm39) |
G1524R |
probably damaging |
Het |
| Cacng4 |
T |
C |
11: 107,685,196 (GRCm39) |
Y32C |
probably damaging |
Het |
| Cep120 |
A |
C |
18: 53,847,839 (GRCm39) |
S673R |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,135,986 (GRCm39) |
E19G |
possibly damaging |
Het |
| Cpxm2 |
C |
T |
7: 131,661,540 (GRCm39) |
V416I |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,874,424 (GRCm39) |
T427A |
probably benign |
Het |
| Ecm1 |
A |
T |
3: 95,641,586 (GRCm39) |
D549E |
probably benign |
Het |
| Efemp1 |
T |
A |
11: 28,871,428 (GRCm39) |
N342K |
probably damaging |
Het |
| Erc2 |
T |
C |
14: 27,993,526 (GRCm39) |
|
probably benign |
Het |
| Fhip2b |
C |
T |
14: 70,825,130 (GRCm39) |
R402H |
probably benign |
Het |
| Galnt13 |
T |
C |
2: 54,747,926 (GRCm39) |
V269A |
probably damaging |
Het |
| Gm6465 |
T |
G |
5: 11,899,020 (GRCm39) |
L171R |
probably damaging |
Het |
| Gpatch1 |
A |
G |
7: 34,994,703 (GRCm39) |
V521A |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,103,914 (GRCm39) |
V1087E |
possibly damaging |
Het |
| Ikzf2 |
A |
T |
1: 69,578,057 (GRCm39) |
V484D |
probably damaging |
Het |
| Ints4 |
T |
A |
7: 97,190,360 (GRCm39) |
V953E |
probably damaging |
Het |
| Iqce |
T |
C |
5: 140,685,480 (GRCm39) |
D15G |
possibly damaging |
Het |
| Kif3a |
T |
A |
11: 53,461,368 (GRCm39) |
N4K |
possibly damaging |
Het |
| Lrch4 |
A |
T |
5: 137,635,271 (GRCm39) |
I254F |
probably damaging |
Het |
| Ly75 |
A |
T |
2: 60,129,516 (GRCm39) |
V1623D |
probably damaging |
Het |
| Mapt |
T |
A |
11: 104,180,828 (GRCm39) |
|
probably benign |
Het |
| Mast1 |
A |
T |
8: 85,639,875 (GRCm39) |
|
probably null |
Het |
| Mcc |
G |
T |
18: 44,892,363 (GRCm39) |
Q84K |
probably benign |
Het |
| Mgat4f |
G |
A |
1: 134,318,349 (GRCm39) |
V374I |
probably benign |
Het |
| Mtfr2 |
G |
A |
10: 20,224,149 (GRCm39) |
V28M |
probably benign |
Het |
| Myh8 |
T |
A |
11: 67,180,520 (GRCm39) |
Y585* |
probably null |
Het |
| Napsa |
T |
C |
7: 44,231,917 (GRCm39) |
V202A |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,001,080 (GRCm39) |
K199R |
probably null |
Het |
| Ntpcr |
C |
T |
8: 126,462,837 (GRCm39) |
A18V |
probably benign |
Het |
| Or2aj4 |
A |
T |
16: 19,385,426 (GRCm39) |
M69K |
probably damaging |
Het |
| Or2g25 |
G |
T |
17: 37,970,368 (GRCm39) |
N285K |
probably damaging |
Het |
| Or56b35 |
T |
A |
7: 104,963,439 (GRCm39) |
I76N |
probably damaging |
Het |
| Or5g9 |
G |
T |
2: 85,552,472 (GRCm39) |
C241F |
probably damaging |
Het |
| Or8b9 |
A |
G |
9: 37,766,477 (GRCm39) |
D121G |
probably damaging |
Het |
| Os9 |
A |
G |
10: 126,935,573 (GRCm39) |
V299A |
probably benign |
Het |
| Pcdhb7 |
T |
C |
18: 37,476,915 (GRCm39) |
S684P |
possibly damaging |
Het |
| Phf19 |
A |
C |
2: 34,787,067 (GRCm39) |
|
probably null |
Het |
| Pkd1l3 |
G |
A |
8: 110,357,908 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
A |
G |
1: 20,429,134 (GRCm39) |
I2422T |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,326,258 (GRCm39) |
V64E |
possibly damaging |
Het |
| Psme4 |
T |
A |
11: 30,762,038 (GRCm39) |
C459* |
probably null |
Het |
| Ptk6 |
T |
C |
2: 180,841,433 (GRCm39) |
S159G |
probably benign |
Het |
| Rhd |
T |
C |
4: 134,617,650 (GRCm39) |
I329T |
possibly damaging |
Het |
| Scfd1 |
A |
G |
12: 51,492,494 (GRCm39) |
Y601C |
probably damaging |
Het |
| Shroom3 |
T |
C |
5: 93,110,148 (GRCm39) |
S1753P |
probably damaging |
Het |
| Spg7 |
T |
A |
8: 123,803,669 (GRCm39) |
L233Q |
probably damaging |
Het |
| Strip1 |
C |
A |
3: 107,529,198 (GRCm39) |
R353L |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,764,823 (GRCm39) |
N544D |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,204,469 (GRCm39) |
T4794A |
possibly damaging |
Het |
| Usp24 |
A |
G |
4: 106,266,095 (GRCm39) |
|
probably benign |
Het |
| Vmn1r193 |
A |
T |
13: 22,403,984 (GRCm39) |
C3S |
probably benign |
Het |
| Yju2b |
G |
T |
8: 84,987,163 (GRCm39) |
|
probably benign |
Het |
| Zdhhc5 |
C |
T |
2: 84,520,836 (GRCm39) |
R447H |
probably benign |
Het |
| Zfp202 |
A |
G |
9: 40,123,124 (GRCm39) |
I629V |
probably benign |
Het |
| Zfp462 |
T |
A |
4: 55,023,441 (GRCm39) |
C990S |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation