Incidental Mutation 'R2198:Slc8a1'
ID |
238530 |
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 |
040200-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2198 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
81680534-82045806 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 81715685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 783
(K783*)
|
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 null
Transcript: ENSMUST00000086538
AA Change: K783*
|
SMART Domains |
Protein: ENSMUSP00000083725 Gene: ENSMUSG00000054640 AA Change: K783*
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 null
Transcript: ENSMUST00000163123
AA Change: K771*
|
SMART Domains |
Protein: ENSMUSP00000132809 Gene: ENSMUSG00000054640 AA Change: K771*
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 null
Transcript: ENSMUST00000163680
AA Change: K783*
|
SMART Domains |
Protein: ENSMUSP00000126373 Gene: ENSMUSG00000054640 AA Change: K783*
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (60/61) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adra1a |
T |
C |
14: 66,875,385 (GRCm39) |
I120T |
probably damaging |
Het |
Akr1c21 |
C |
T |
13: 4,627,464 (GRCm39) |
P186L |
probably damaging |
Het |
Alpk2 |
T |
C |
18: 65,483,255 (GRCm39) |
K251R |
probably benign |
Het |
Ank2 |
T |
C |
3: 126,728,226 (GRCm39) |
E789G |
possibly damaging |
Het |
Bag3 |
AAAGG |
AAAGGAAGG |
7: 128,147,493 (GRCm39) |
|
probably null |
Het |
Cacna2d4 |
T |
C |
6: 119,324,220 (GRCm39) |
|
probably benign |
Het |
Carf |
G |
A |
1: 60,180,643 (GRCm39) |
R355H |
probably damaging |
Het |
Cdh20 |
A |
T |
1: 104,875,047 (GRCm39) |
|
probably null |
Het |
Celf6 |
G |
T |
9: 59,510,622 (GRCm39) |
L169F |
possibly damaging |
Het |
Cep295nl |
A |
T |
11: 118,223,419 (GRCm39) |
I475N |
probably benign |
Het |
Chdh |
T |
A |
14: 29,753,489 (GRCm39) |
S133T |
possibly damaging |
Het |
Cnot6l |
C |
T |
5: 96,227,800 (GRCm39) |
D478N |
possibly damaging |
Het |
Ctnna3 |
C |
A |
10: 64,838,524 (GRCm39) |
T867K |
probably benign |
Het |
Ctse |
T |
G |
1: 131,600,185 (GRCm39) |
Y311* |
probably null |
Het |
Ddx60 |
T |
A |
8: 62,411,097 (GRCm39) |
M453K |
possibly damaging |
Het |
Dnah9 |
A |
G |
11: 65,750,325 (GRCm39) |
F3927L |
possibly damaging |
Het |
Dsg4 |
T |
C |
18: 20,594,499 (GRCm39) |
S543P |
probably benign |
Het |
Dspp |
A |
T |
5: 104,323,567 (GRCm39) |
T237S |
probably benign |
Het |
Eml6 |
T |
G |
11: 29,800,935 (GRCm39) |
H357P |
probably benign |
Het |
Epha3 |
T |
C |
16: 63,664,507 (GRCm39) |
I38V |
possibly damaging |
Het |
Erap1 |
C |
T |
13: 74,794,806 (GRCm39) |
T155I |
probably damaging |
Het |
Erh |
T |
C |
12: 80,689,559 (GRCm39) |
|
probably benign |
Het |
F5 |
A |
T |
1: 164,034,603 (GRCm39) |
K1834M |
probably damaging |
Het |
Fyn |
A |
G |
10: 39,405,541 (GRCm39) |
E269G |
probably benign |
Het |
Gm4884 |
A |
G |
7: 40,690,229 (GRCm39) |
T42A |
probably benign |
Het |
Grm1 |
T |
G |
10: 10,658,520 (GRCm39) |
R323S |
probably damaging |
Het |
Gstt4 |
T |
C |
10: 75,658,235 (GRCm39) |
D8G |
probably damaging |
Het |
Gvin-ps3 |
T |
A |
7: 105,682,758 (GRCm39) |
M166L |
probably benign |
Het |
Ldlr |
A |
G |
9: 21,643,698 (GRCm39) |
D94G |
probably damaging |
Het |
Mrpl54 |
G |
A |
10: 81,101,575 (GRCm39) |
|
probably null |
Het |
Naip2 |
A |
T |
13: 100,289,100 (GRCm39) |
F1210Y |
probably damaging |
Het |
Nifk |
A |
G |
1: 118,257,130 (GRCm39) |
R88G |
probably benign |
Het |
Nlgn1 |
C |
T |
3: 25,487,925 (GRCm39) |
M803I |
probably damaging |
Het |
Or2r11 |
A |
G |
6: 42,437,950 (GRCm39) |
M1T |
probably null |
Het |
Or2y16 |
C |
T |
11: 49,334,786 (GRCm39) |
S36F |
probably benign |
Het |
Or6c88 |
T |
A |
10: 129,406,915 (GRCm39) |
Y130* |
probably null |
Het |
Or8g18 |
G |
A |
9: 39,149,048 (GRCm39) |
T224I |
possibly damaging |
Het |
Pip4k2a |
A |
T |
2: 18,852,466 (GRCm39) |
M272K |
probably damaging |
Het |
Ppp1cb |
G |
T |
5: 32,640,704 (GRCm39) |
C139F |
probably damaging |
Het |
Rad23b |
G |
A |
4: 55,385,497 (GRCm39) |
G345R |
possibly damaging |
Het |
Shc4 |
A |
T |
2: 125,481,266 (GRCm39) |
V548E |
possibly damaging |
Het |
Slc26a9 |
A |
G |
1: 131,691,001 (GRCm39) |
|
probably benign |
Het |
Sobp |
A |
C |
10: 42,898,520 (GRCm39) |
I355S |
possibly damaging |
Het |
Thbs4 |
A |
G |
13: 92,899,779 (GRCm39) |
Y491H |
possibly damaging |
Het |
Tle2 |
T |
C |
10: 81,426,147 (GRCm39) |
V727A |
probably damaging |
Het |
Tmprss9 |
C |
T |
10: 80,723,293 (GRCm39) |
P251L |
probably damaging |
Het |
Tnks |
A |
T |
8: 35,315,803 (GRCm39) |
D994E |
probably benign |
Het |
Tnks |
C |
T |
8: 35,340,221 (GRCm39) |
D466N |
probably benign |
Het |
Tonsl |
A |
G |
15: 76,520,872 (GRCm39) |
F394L |
probably benign |
Het |
Trpa1 |
T |
A |
1: 14,980,970 (GRCm39) |
Y144F |
probably benign |
Het |
Usp22 |
A |
G |
11: 61,050,163 (GRCm39) |
F324S |
probably damaging |
Het |
Vmn1r78 |
G |
T |
7: 11,886,487 (GRCm39) |
V33F |
probably benign |
Het |
Wdr81 |
C |
T |
11: 75,336,907 (GRCm39) |
R1494Q |
probably benign |
Het |
Wdr87-ps |
G |
T |
7: 29,226,697 (GRCm39) |
|
noncoding transcript |
Het |
Zc3h14 |
G |
A |
12: 98,719,068 (GRCm39) |
M144I |
probably damaging |
Het |
Zc3h14 |
G |
A |
12: 98,719,069 (GRCm39) |
V145M |
possibly damaging |
Het |
Zfp82 |
T |
C |
7: 29,756,936 (GRCm39) |
T49A |
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 |
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'- ATCAACTCTTACCTGGCACCG -3'
(R):5'- AAGCTTATTGACCTCTTATGGCC -3'
Sequencing Primer
(F):5'- TTACCTGGCACCGAGGTTC -3'
(R):5'- TTCCCTCAGAGGAGTGTGACAATG -3'
|
Posted On |
2014-10-02 |