Incidental Mutation 'R5902:Slc8a1'
| ID |
456419 |
| 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 |
044100-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5902 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
81680534-82045806 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 81715511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 841
(G841R)
|
| 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: G841R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083725
Gene: ENSMUSG00000054640
AA Change: G841R
| 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: G829R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132809
Gene: ENSMUSG00000054640
AA Change: G829R
| 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: G841R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126373
Gene: ENSMUSG00000054640
AA Change: G841R
| 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: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 92.1%
|
| Validation Efficiency |
99% (81/82) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,539,281 (GRCm39) |
M1V |
probably null |
Het |
| Abca13 |
T |
A |
11: 9,247,177 (GRCm39) |
L2308H |
probably damaging |
Het |
| Abcc8 |
T |
C |
7: 45,764,463 (GRCm39) |
T1161A |
probably benign |
Het |
| Acin1 |
T |
A |
14: 54,901,130 (GRCm39) |
T659S |
probably benign |
Het |
| Actl7a |
G |
T |
4: 56,743,827 (GRCm39) |
R118L |
probably damaging |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Alkbh8 |
A |
G |
9: 3,385,414 (GRCm39) |
K569E |
probably benign |
Het |
| Anxa3 |
A |
T |
5: 96,960,712 (GRCm39) |
K39* |
probably null |
Het |
| Aoc2 |
A |
G |
11: 101,220,072 (GRCm39) |
E659G |
probably damaging |
Het |
| Atg7 |
C |
T |
6: 114,650,639 (GRCm39) |
T83M |
possibly damaging |
Het |
| AU022252 |
T |
C |
4: 119,084,101 (GRCm39) |
D104G |
probably benign |
Het |
| Car6 |
T |
C |
4: 150,271,956 (GRCm39) |
Y231C |
possibly damaging |
Het |
| Cdh10 |
T |
G |
15: 18,985,341 (GRCm39) |
|
probably null |
Het |
| Cebpz |
A |
C |
17: 79,233,366 (GRCm39) |
M787R |
probably benign |
Het |
| Chst2 |
A |
G |
9: 95,287,662 (GRCm39) |
L228P |
probably damaging |
Het |
| Clic4 |
T |
C |
4: 134,999,869 (GRCm39) |
K11R |
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,729,921 (GRCm39) |
|
probably null |
Het |
| Commd7 |
T |
A |
2: 153,463,737 (GRCm39) |
T144S |
probably damaging |
Het |
| Ctla2a |
T |
A |
13: 61,082,834 (GRCm39) |
*138Y |
probably null |
Het |
| Dhx33 |
A |
T |
11: 70,879,957 (GRCm39) |
V351D |
probably damaging |
Het |
| Dnah9 |
G |
A |
11: 65,916,013 (GRCm39) |
T2313I |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,325,977 (GRCm39) |
D780V |
unknown |
Het |
| Dync1li1 |
A |
G |
9: 114,546,929 (GRCm39) |
|
probably null |
Het |
| E2f3 |
C |
T |
13: 30,169,250 (GRCm39) |
|
probably benign |
Het |
| Fan1 |
T |
C |
7: 64,023,070 (GRCm39) |
|
probably null |
Het |
| Gart |
A |
G |
16: 91,425,415 (GRCm39) |
S617P |
probably damaging |
Het |
| Ggcx |
A |
G |
6: 72,406,979 (GRCm39) |
N705S |
possibly damaging |
Het |
| Gm4841 |
A |
T |
18: 60,403,868 (GRCm39) |
V75E |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,538,302 (GRCm39) |
E1105G |
probably benign |
Het |
| Hr |
C |
A |
14: 70,795,231 (GRCm39) |
Q288K |
probably benign |
Het |
| Hus1 |
T |
C |
11: 8,960,669 (GRCm39) |
|
probably benign |
Het |
| Ifi47 |
C |
A |
11: 48,986,213 (GRCm39) |
|
probably null |
Het |
| Irf2bp1 |
T |
C |
7: 18,738,372 (GRCm39) |
V4A |
probably benign |
Het |
| Kprp |
C |
T |
3: 92,731,835 (GRCm39) |
C405Y |
unknown |
Het |
| Lacc1 |
T |
C |
14: 77,272,239 (GRCm39) |
I186V |
possibly damaging |
Het |
| Lifr |
A |
G |
15: 7,220,231 (GRCm39) |
T954A |
probably benign |
Het |
| Lonrf2 |
T |
C |
1: 38,846,174 (GRCm39) |
M333V |
probably benign |
Het |
| Mthfd1 |
A |
T |
12: 76,337,826 (GRCm39) |
H400L |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,141,733 (GRCm39) |
K864R |
possibly damaging |
Het |
| Nup50 |
C |
T |
15: 84,819,641 (GRCm39) |
A305V |
probably benign |
Het |
| Or4a74 |
T |
A |
2: 89,439,595 (GRCm39) |
I284L |
probably damaging |
Het |
| Or4k44 |
C |
T |
2: 111,367,739 (GRCm39) |
M298I |
probably benign |
Het |
| Pax4 |
G |
T |
6: 28,447,126 (GRCm39) |
Q3K |
probably benign |
Het |
| Pced1b |
T |
G |
15: 97,282,970 (GRCm39) |
Y336* |
probably null |
Het |
| Postn |
C |
A |
3: 54,279,510 (GRCm39) |
N329K |
probably benign |
Het |
| Prickle1 |
T |
C |
15: 93,408,553 (GRCm39) |
E82G |
probably null |
Het |
| Prtn3 |
T |
C |
10: 79,718,766 (GRCm39) |
Y241H |
probably damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,068,011 (GRCm39) |
I260K |
probably damaging |
Het |
| Sh3glb1 |
T |
C |
3: 144,418,431 (GRCm39) |
N44S |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,867,589 (GRCm39) |
|
probably null |
Het |
| Slc4a9 |
A |
G |
18: 36,662,386 (GRCm39) |
|
probably null |
Het |
| Slc4a9 |
A |
T |
18: 36,664,560 (GRCm39) |
D406V |
probably damaging |
Het |
| Smn1 |
C |
T |
13: 100,263,412 (GRCm39) |
P60L |
probably benign |
Het |
| Snai1 |
G |
A |
2: 167,383,930 (GRCm39) |
C241Y |
probably damaging |
Het |
| Spock3 |
A |
G |
8: 63,808,336 (GRCm39) |
D411G |
unknown |
Het |
| Szt2 |
T |
A |
4: 118,248,700 (GRCm39) |
T607S |
probably benign |
Het |
| Tcap |
A |
T |
11: 98,274,673 (GRCm39) |
M1L |
probably benign |
Het |
| Tex29 |
A |
T |
8: 11,905,723 (GRCm39) |
|
probably benign |
Het |
| Tex29 |
C |
A |
8: 11,904,276 (GRCm39) |
|
probably benign |
Het |
| Tex29 |
C |
T |
8: 11,904,277 (GRCm39) |
|
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,269,999 (GRCm39) |
T467A |
probably benign |
Het |
| Trim34a |
C |
T |
7: 103,910,328 (GRCm39) |
Q377* |
probably null |
Het |
| Ube2q1 |
T |
A |
3: 89,683,487 (GRCm39) |
L144* |
probably null |
Het |
| Vps13c |
A |
G |
9: 67,841,729 (GRCm39) |
E1917G |
probably benign |
Het |
| Wdr19 |
T |
A |
5: 65,384,482 (GRCm39) |
N525K |
probably benign |
Het |
| Wdr3 |
A |
T |
3: 100,051,807 (GRCm39) |
|
probably benign |
Het |
| Wnt5b |
T |
A |
6: 119,425,199 (GRCm39) |
H6L |
probably benign |
Het |
| Yju2 |
A |
G |
17: 56,269,077 (GRCm39) |
T62A |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,345,685 (GRCm39) |
S1355P |
possibly damaging |
Het |
| Zfp11 |
T |
A |
5: 129,734,976 (GRCm39) |
I162F |
probably damaging |
Het |
| Zpbp |
T |
C |
11: 11,365,332 (GRCm39) |
T172A |
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 |
|
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'- AGAGAAGTGAGAACTGGAATTTCTC -3'
(R):5'- CACAGTGTTCTGGAAGGTTCTG -3'
Sequencing Primer
(F):5'- GTGTTAACTCAGACTGTGACAGCAC -3'
(R):5'- GAAGGTTCTGTTTGCCTTCGTCC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation