Incidental Mutation 'R7057:Slc8a1'
| ID |
548015 |
| 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 |
045154-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7057 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
81680534-82045806 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81956524 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 171
(S171R)
|
| 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: S171R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083725
Gene: ENSMUSG00000054640
AA Change: S171R
| 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: S171R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132809
Gene: ENSMUSG00000054640
AA Change: S171R
| 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: S171R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126373
Gene: ENSMUSG00000054640
AA Change: S171R
| 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: 99.2%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
T |
A |
6: 40,945,181 (GRCm39) |
V220D |
probably benign |
Het |
| Ankrd1 |
T |
C |
19: 36,095,633 (GRCm39) |
E113G |
possibly damaging |
Het |
| Aqp12 |
T |
C |
1: 92,939,718 (GRCm39) |
L249P |
probably damaging |
Het |
| Atg4a-ps |
A |
G |
3: 103,553,296 (GRCm39) |
F15S |
possibly damaging |
Het |
| Bub1 |
T |
A |
2: 127,671,447 (GRCm39) |
M46L |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| C2cd4d |
A |
G |
3: 94,270,800 (GRCm39) |
H22R |
probably benign |
Het |
| Ccdc157 |
A |
G |
11: 4,094,586 (GRCm39) |
V480A |
probably benign |
Het |
| Cdc42ep3 |
G |
A |
17: 79,642,952 (GRCm39) |
|
probably benign |
Het |
| Cela1 |
T |
A |
15: 100,580,774 (GRCm39) |
T161S |
possibly damaging |
Het |
| Chtf18 |
G |
T |
17: 25,940,100 (GRCm39) |
A697E |
possibly damaging |
Het |
| Cr2 |
T |
C |
1: 194,833,918 (GRCm39) |
D957G |
possibly damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,796,063 (GRCm39) |
V60A |
probably damaging |
Het |
| Dazl |
CCATGATGGCGGC |
CC |
17: 50,600,434 (GRCm39) |
|
probably null |
Het |
| Dock2 |
A |
T |
11: 34,177,684 (GRCm39) |
L1824Q |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,586,044 (GRCm39) |
Y546C |
probably benign |
Het |
| Focad |
G |
A |
4: 88,192,342 (GRCm39) |
C557Y |
unknown |
Het |
| Ftmt |
T |
A |
18: 52,465,180 (GRCm39) |
N165K |
probably benign |
Het |
| Gen1 |
A |
C |
12: 11,292,419 (GRCm39) |
S457A |
probably benign |
Het |
| Gja1 |
T |
G |
10: 56,264,129 (GRCm39) |
S163A |
probably benign |
Het |
| Gm8267 |
T |
C |
14: 44,959,481 (GRCm39) |
I194M |
probably damaging |
Het |
| Golga3 |
T |
A |
5: 110,336,529 (GRCm39) |
S389R |
probably damaging |
Het |
| Gpc5 |
C |
A |
14: 115,370,654 (GRCm39) |
Q87K |
possibly damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,312,661 (GRCm39) |
A3420T |
probably damaging |
Het |
| Htt |
A |
G |
5: 34,979,067 (GRCm39) |
S817G |
probably null |
Het |
| Hus1b |
C |
T |
13: 31,131,533 (GRCm39) |
C42Y |
possibly damaging |
Het |
| Iars2 |
A |
G |
1: 185,021,564 (GRCm39) |
F913L |
probably benign |
Het |
| Kcna4 |
A |
G |
2: 107,125,665 (GRCm39) |
E133G |
probably damaging |
Het |
| Klhl36 |
T |
C |
8: 120,603,536 (GRCm39) |
L597P |
probably benign |
Het |
| Ltv1 |
T |
C |
10: 13,056,646 (GRCm39) |
E299G |
possibly damaging |
Het |
| Mmp12 |
A |
G |
9: 7,357,840 (GRCm39) |
Y348C |
probably damaging |
Het |
| Mmp12 |
G |
A |
9: 7,369,173 (GRCm39) |
V270I |
probably benign |
Het |
| Mmp2 |
A |
G |
8: 93,558,333 (GRCm39) |
D134G |
probably damaging |
Het |
| Mrpl15 |
A |
T |
1: 4,846,865 (GRCm39) |
M237K |
probably benign |
Het |
| Ms4a6b |
G |
T |
19: 11,504,253 (GRCm39) |
V177F |
possibly damaging |
Het |
| Muc16 |
A |
G |
9: 18,557,375 (GRCm39) |
S2973P |
unknown |
Het |
| Or1e30 |
A |
C |
11: 73,677,974 (GRCm39) |
D70A |
possibly damaging |
Het |
| Or4c114 |
A |
C |
2: 88,904,808 (GRCm39) |
I209S |
possibly damaging |
Het |
| Or5b120 |
G |
T |
19: 13,480,243 (GRCm39) |
D179Y |
probably damaging |
Het |
| Or5b12b |
A |
T |
19: 12,862,006 (GRCm39) |
I254F |
probably damaging |
Het |
| Or8b48 |
A |
T |
9: 38,493,050 (GRCm39) |
H159L |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,286,364 (GRCm39) |
I1201K |
probably benign |
Het |
| Plekhn1 |
T |
G |
4: 156,318,374 (GRCm39) |
M83L |
probably damaging |
Het |
| Pnlip |
G |
T |
19: 58,664,695 (GRCm39) |
D212Y |
probably damaging |
Het |
| Pomt2 |
T |
C |
12: 87,174,152 (GRCm39) |
N417S |
probably damaging |
Het |
| Pxylp1 |
T |
A |
9: 96,707,103 (GRCm39) |
M360L |
probably benign |
Het |
| Rbak |
G |
A |
5: 143,159,682 (GRCm39) |
T457I |
possibly damaging |
Het |
| Runx2 |
A |
T |
17: 45,125,424 (GRCm39) |
W31R |
probably null |
Het |
| Sec16a |
T |
A |
2: 26,315,277 (GRCm39) |
I1795F |
probably damaging |
Het |
| Sik2 |
A |
T |
9: 50,909,861 (GRCm39) |
I64N |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,857,371 (GRCm39) |
E924G |
possibly damaging |
Het |
| Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
| Slc45a4 |
C |
A |
15: 73,459,487 (GRCm39) |
D174Y |
probably damaging |
Het |
| Slc6a6 |
A |
C |
6: 91,718,248 (GRCm39) |
E354A |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,640,858 (GRCm39) |
I669M |
probably benign |
Het |
| Stk39 |
C |
A |
2: 68,240,471 (GRCm39) |
A87S |
possibly damaging |
Het |
| Tasor |
A |
T |
14: 27,183,608 (GRCm39) |
N689I |
probably damaging |
Het |
| Tbx18 |
C |
A |
9: 87,587,317 (GRCm39) |
S600I |
possibly damaging |
Het |
| Tesc |
A |
C |
5: 118,193,025 (GRCm39) |
K114Q |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,554,915 (GRCm39) |
D256G |
probably damaging |
Het |
| Tmem35b |
T |
A |
4: 127,021,679 (GRCm39) |
I45K |
probably benign |
Het |
| Tnks |
T |
C |
8: 35,307,168 (GRCm39) |
D1127G |
probably damaging |
Het |
| Trpm8 |
A |
T |
1: 88,289,802 (GRCm39) |
D920V |
probably null |
Het |
| U2af1 |
A |
T |
17: 31,867,831 (GRCm39) |
D79E |
probably benign |
Het |
| Zfp704 |
T |
C |
3: 9,535,977 (GRCm39) |
D331G |
probably damaging |
Het |
| Znrf3 |
G |
T |
11: 5,232,442 (GRCm39) |
P261Q |
probably benign |
Het |
| Zscan4b |
A |
T |
7: 10,635,636 (GRCm39) |
C202* |
probably null |
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 |
|
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'- TGCAGACCGGTTTATGTCC -3'
Sequencing Primer
(F):5'- GACCTCCACAACTCCAGGAG -3'
(R):5'- CAGACCGGTTTATGTCCTCTATAGAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation