Incidental Mutation 'R1879:Slc8a1'
| ID |
211441 |
| 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 |
039900-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1879 (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 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: 97.3%
- 3x: 96.6%
- 10x: 94.9%
- 20x: 91.6%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
C |
2: 30,686,488 (GRCm39) |
D268G |
possibly damaging |
Het |
| Abce1 |
T |
C |
8: 80,414,085 (GRCm39) |
N542S |
probably benign |
Het |
| Abcf1 |
T |
A |
17: 36,272,704 (GRCm39) |
E260D |
probably benign |
Het |
| Ahcy |
A |
G |
2: 154,906,072 (GRCm39) |
|
probably null |
Het |
| Akap13 |
C |
T |
7: 75,260,475 (GRCm39) |
A1033V |
probably benign |
Het |
| Alkbh6 |
A |
G |
7: 30,011,320 (GRCm39) |
N46S |
probably damaging |
Het |
| Ankrd34c |
A |
C |
9: 89,612,126 (GRCm39) |
L72V |
probably damaging |
Het |
| Arf4 |
T |
A |
14: 26,368,076 (GRCm39) |
N25K |
probably damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,761,521 (GRCm39) |
D259G |
unknown |
Het |
| Cavin1 |
C |
A |
11: 100,861,036 (GRCm39) |
G86V |
probably damaging |
Het |
| Ces1d |
G |
A |
8: 93,916,126 (GRCm39) |
T167I |
probably benign |
Het |
| Cfb |
T |
C |
17: 35,079,536 (GRCm39) |
I754V |
probably benign |
Het |
| Clcnkb |
C |
T |
4: 141,135,130 (GRCm39) |
R536H |
possibly damaging |
Het |
| Clpb |
T |
G |
7: 101,355,690 (GRCm39) |
S181R |
probably benign |
Het |
| Col1a1 |
T |
C |
11: 94,842,051 (GRCm39) |
M1366T |
unknown |
Het |
| Cped1 |
T |
A |
6: 22,085,014 (GRCm39) |
|
probably null |
Het |
| Crip1 |
G |
A |
12: 113,116,952 (GRCm39) |
C82Y |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,520,915 (GRCm39) |
T2810A |
possibly damaging |
Het |
| Cyp2b9 |
A |
T |
7: 25,897,994 (GRCm39) |
D266V |
probably damaging |
Het |
| Cyp46a1 |
A |
G |
12: 108,319,385 (GRCm39) |
D294G |
probably damaging |
Het |
| Depp1 |
G |
A |
6: 116,628,683 (GRCm39) |
V9M |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,227,924 (GRCm39) |
E1514G |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,591,070 (GRCm39) |
E1046G |
probably benign |
Het |
| Eya2 |
T |
C |
2: 165,506,726 (GRCm39) |
V4A |
probably benign |
Het |
| Frem3 |
A |
T |
8: 81,338,567 (GRCm39) |
R287* |
probably null |
Het |
| Fuca2 |
T |
A |
10: 13,383,000 (GRCm39) |
C323S |
possibly damaging |
Het |
| Ggt7 |
T |
C |
2: 155,356,707 (GRCm39) |
E4G |
possibly damaging |
Het |
| Gli1 |
C |
T |
10: 127,169,606 (GRCm39) |
R383H |
probably damaging |
Het |
| Gm4559 |
C |
A |
7: 141,827,998 (GRCm39) |
V35F |
unknown |
Het |
| Gpm6a |
T |
A |
8: 55,490,365 (GRCm39) |
C14S |
probably damaging |
Het |
| Hcn2 |
A |
T |
10: 79,562,023 (GRCm39) |
I340F |
probably benign |
Het |
| Hdac9 |
T |
A |
12: 34,440,332 (GRCm39) |
D349V |
probably damaging |
Het |
| Krt34 |
T |
C |
11: 99,929,118 (GRCm39) |
D364G |
possibly damaging |
Het |
| Mon2 |
C |
T |
10: 122,838,790 (GRCm39) |
R1565H |
probably damaging |
Het |
| Myb |
T |
A |
10: 21,017,876 (GRCm39) |
M482L |
probably benign |
Het |
| Nckap1l |
A |
T |
15: 103,373,028 (GRCm39) |
I294F |
probably benign |
Het |
| Nr2e1 |
A |
G |
10: 42,444,367 (GRCm39) |
|
probably null |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Or1j16 |
G |
T |
2: 36,530,201 (GRCm39) |
R50M |
possibly damaging |
Het |
| Or1r1 |
T |
A |
11: 73,875,368 (GRCm39) |
D22V |
probably benign |
Het |
| Or4k38 |
A |
T |
2: 111,165,808 (GRCm39) |
I205N |
possibly damaging |
Het |
| Or52h7 |
T |
C |
7: 104,214,118 (GRCm39) |
V230A |
possibly damaging |
Het |
| Pde8b |
A |
T |
13: 95,221,723 (GRCm39) |
I308N |
possibly damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,373,986 (GRCm39) |
R2050G |
possibly damaging |
Het |
| Phc3 |
C |
A |
3: 30,968,607 (GRCm39) |
S840I |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,247,031 (GRCm39) |
Y327F |
probably damaging |
Het |
| Pnliprp1 |
A |
T |
19: 58,732,516 (GRCm39) |
I460F |
probably benign |
Het |
| Pphln1 |
T |
G |
15: 93,321,927 (GRCm39) |
D35E |
probably damaging |
Het |
| Prdm6 |
G |
A |
18: 53,701,289 (GRCm39) |
V360I |
probably damaging |
Het |
| Rab35 |
T |
A |
5: 115,778,219 (GRCm39) |
W62R |
probably damaging |
Het |
| Sct |
G |
T |
7: 140,858,612 (GRCm39) |
P70Q |
probably damaging |
Het |
| Sdf4 |
A |
G |
4: 156,094,304 (GRCm39) |
N328S |
probably damaging |
Het |
| Senp5 |
A |
T |
16: 31,802,642 (GRCm39) |
S488R |
probably damaging |
Het |
| Serpina3n |
A |
G |
12: 104,375,213 (GRCm39) |
E95G |
probably benign |
Het |
| Sfswap |
C |
T |
5: 129,618,392 (GRCm39) |
A442V |
probably benign |
Het |
| Sgcd |
T |
C |
11: 47,246,068 (GRCm39) |
I45V |
probably benign |
Het |
| Sgcg |
T |
C |
14: 61,474,346 (GRCm39) |
|
probably null |
Het |
| Slc39a12 |
G |
T |
2: 14,448,868 (GRCm39) |
V489L |
probably benign |
Het |
| Slc5a11 |
T |
A |
7: 122,838,671 (GRCm39) |
I96N |
possibly damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,324,382 (GRCm39) |
D2G |
probably damaging |
Het |
| Smarcd3 |
C |
A |
5: 24,798,019 (GRCm39) |
C465F |
probably damaging |
Het |
| Smc1b |
T |
A |
15: 84,976,268 (GRCm39) |
Q813L |
probably benign |
Het |
| Spag1 |
G |
A |
15: 36,181,916 (GRCm39) |
E25K |
probably damaging |
Het |
| Sptan1 |
A |
T |
2: 29,885,540 (GRCm39) |
N715I |
probably damaging |
Het |
| Tas1r2 |
T |
A |
4: 139,397,006 (GRCm39) |
Y782N |
probably damaging |
Het |
| Thap3 |
A |
T |
4: 152,067,593 (GRCm39) |
C162S |
probably benign |
Het |
| Topaz1 |
T |
A |
9: 122,578,684 (GRCm39) |
D531E |
possibly damaging |
Het |
| Vmn1r25 |
C |
T |
6: 57,955,912 (GRCm39) |
A126T |
possibly damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,303,074 (GRCm39) |
F1637L |
probably benign |
Het |
| Zfhx2 |
T |
C |
14: 55,310,206 (GRCm39) |
Y780C |
possibly damaging |
Het |
| Zfp513 |
T |
G |
5: 31,357,767 (GRCm39) |
K202T |
probably damaging |
Het |
| Zfp956 |
A |
T |
6: 47,940,678 (GRCm39) |
T346S |
probably benign |
Het |
| Zkscan1 |
C |
T |
5: 138,095,410 (GRCm39) |
A219V |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACAGGTGTCCTCAAAGTCTTC -3'
(R):5'- ACGGAAGGGACTGTGATCTTC -3'
Sequencing Primer
(F):5'- GGTGTCCTCAAAGTCTTCCCCTC -3'
(R):5'- CTGTGATCTTCAAACCAGGGG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation