Incidental Mutation 'R5307:Slc8a1'
ID |
404683 |
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 |
042890-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5307 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
81680534-82045806 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 81956653 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 128
(N128K)
|
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: N128K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083725 Gene: ENSMUSG00000054640 AA Change: N128K
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: N128K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132809 Gene: ENSMUSG00000054640 AA Change: N128K
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: N128K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126373 Gene: ENSMUSG00000054640 AA Change: N128K
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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
C |
G |
3: 124,199,999 (GRCm39) |
G531A |
probably damaging |
Het |
Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Ap3d1 |
T |
C |
10: 80,559,383 (GRCm39) |
T264A |
probably benign |
Het |
Arhgef17 |
C |
G |
7: 100,578,635 (GRCm39) |
G771A |
probably benign |
Het |
Atg2b |
T |
A |
12: 105,624,588 (GRCm39) |
D637V |
probably benign |
Het |
Atp10b |
A |
G |
11: 43,103,302 (GRCm39) |
E562G |
probably damaging |
Het |
Atp1a1 |
A |
G |
3: 101,497,280 (GRCm39) |
V342A |
probably damaging |
Het |
Atp2a2 |
A |
G |
5: 122,599,810 (GRCm39) |
I527T |
probably benign |
Het |
Atr |
T |
A |
9: 95,760,597 (GRCm39) |
N1022K |
probably benign |
Het |
Bach2 |
T |
A |
4: 32,562,683 (GRCm39) |
D383E |
probably benign |
Het |
Casq1 |
A |
T |
1: 172,046,983 (GRCm39) |
L92Q |
probably damaging |
Het |
Chd1 |
T |
A |
17: 15,952,832 (GRCm39) |
Y371N |
probably damaging |
Het |
Chd9 |
G |
A |
8: 91,723,777 (GRCm39) |
A617T |
probably damaging |
Het |
Cntrob |
T |
A |
11: 69,205,576 (GRCm39) |
R419S |
possibly damaging |
Het |
Corin |
C |
A |
5: 72,514,321 (GRCm39) |
G318C |
probably damaging |
Het |
Cpa3 |
A |
G |
3: 20,281,327 (GRCm39) |
|
probably null |
Het |
Cplane1 |
G |
A |
15: 8,290,174 (GRCm39) |
|
probably null |
Het |
Crybg1 |
T |
C |
10: 43,879,710 (GRCm39) |
S493G |
probably benign |
Het |
Ddc |
A |
G |
11: 11,826,321 (GRCm39) |
F80S |
probably damaging |
Het |
Dhrs2 |
A |
G |
14: 55,473,601 (GRCm39) |
S87G |
possibly damaging |
Het |
Dnah12 |
A |
G |
14: 26,414,641 (GRCm39) |
E14G |
possibly damaging |
Het |
Dtd1 |
A |
G |
2: 144,588,942 (GRCm39) |
E200G |
possibly damaging |
Het |
Dync2h1 |
T |
C |
9: 7,155,099 (GRCm39) |
E895G |
probably damaging |
Het |
Ehhadh |
A |
C |
16: 21,581,442 (GRCm39) |
S517A |
probably benign |
Het |
Ephb2 |
C |
A |
4: 136,421,098 (GRCm39) |
Q417H |
possibly damaging |
Het |
Ephb4 |
A |
G |
5: 137,361,574 (GRCm39) |
T526A |
probably damaging |
Het |
Fam222b |
G |
A |
11: 78,044,594 (GRCm39) |
V52I |
probably damaging |
Het |
Galm |
G |
A |
17: 80,452,416 (GRCm39) |
W118* |
probably null |
Het |
Galm |
G |
T |
17: 80,452,417 (GRCm39) |
W118C |
probably damaging |
Het |
Gcfc2 |
A |
G |
6: 81,921,367 (GRCm39) |
N458D |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gykl1 |
A |
C |
18: 52,827,723 (GRCm39) |
R310S |
possibly damaging |
Het |
Gzmn |
A |
C |
14: 56,405,403 (GRCm39) |
V27G |
probably damaging |
Het |
H2-T23 |
T |
A |
17: 36,343,108 (GRCm39) |
M90L |
probably benign |
Het |
Hnrnpu |
T |
C |
1: 178,164,877 (GRCm39) |
E87G |
unknown |
Het |
Hps3 |
G |
A |
3: 20,066,865 (GRCm39) |
S567L |
possibly damaging |
Het |
Igfn1 |
A |
T |
1: 135,892,676 (GRCm39) |
V2148E |
probably damaging |
Het |
Ighv1-75 |
T |
C |
12: 115,797,572 (GRCm39) |
R117G |
probably damaging |
Het |
Itgae |
C |
T |
11: 73,036,464 (GRCm39) |
A1134V |
probably benign |
Het |
Kmt2b |
C |
T |
7: 30,281,098 (GRCm39) |
A1294T |
possibly damaging |
Het |
Leng8 |
C |
T |
7: 4,148,472 (GRCm39) |
T748I |
probably damaging |
Het |
Lrig3 |
G |
C |
10: 125,842,559 (GRCm39) |
D495H |
probably damaging |
Het |
Mctp1 |
G |
A |
13: 76,860,198 (GRCm39) |
|
probably null |
Het |
Mfsd3 |
T |
A |
15: 76,586,371 (GRCm39) |
L168* |
probably null |
Het |
Nherf1 |
T |
A |
11: 115,054,587 (GRCm39) |
I79N |
probably damaging |
Het |
Nlrp4d |
C |
A |
7: 10,096,709 (GRCm39) |
G921* |
probably null |
Het |
Nsun4 |
G |
A |
4: 115,891,335 (GRCm39) |
T348I |
probably damaging |
Het |
Nucb1 |
T |
C |
7: 45,147,842 (GRCm39) |
T246A |
probably damaging |
Het |
Nynrin |
A |
C |
14: 56,101,263 (GRCm39) |
S311R |
probably damaging |
Het |
Or4k37 |
T |
A |
2: 111,158,741 (GRCm39) |
|
probably null |
Het |
Or5ar1 |
T |
G |
2: 85,671,358 (GRCm39) |
Y259S |
probably damaging |
Het |
Ovch2 |
C |
A |
7: 107,391,341 (GRCm39) |
R303L |
probably benign |
Het |
Pcsk9 |
A |
G |
4: 106,304,371 (GRCm39) |
S490P |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,140,894 (GRCm39) |
F859L |
probably benign |
Het |
Pkd1l3 |
A |
G |
8: 110,367,424 (GRCm39) |
D1207G |
probably damaging |
Het |
Pnpla7 |
G |
A |
2: 24,911,964 (GRCm39) |
R710Q |
possibly damaging |
Het |
Prex2 |
T |
G |
1: 11,270,256 (GRCm39) |
S1314A |
probably damaging |
Het |
Rnf216 |
A |
G |
5: 143,078,757 (GRCm39) |
L64P |
probably damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Slc6a20b |
T |
G |
9: 123,432,899 (GRCm39) |
S374R |
possibly damaging |
Het |
Slfn5 |
A |
T |
11: 82,847,211 (GRCm39) |
D32V |
probably damaging |
Het |
Snrnp35 |
T |
C |
5: 124,628,553 (GRCm39) |
I122T |
possibly damaging |
Het |
Snx24 |
C |
T |
18: 53,473,283 (GRCm39) |
Q76* |
probably null |
Het |
Sspo |
T |
A |
6: 48,431,784 (GRCm39) |
H692Q |
probably damaging |
Het |
Stxbp3 |
T |
C |
3: 108,701,114 (GRCm39) |
D585G |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,072,677 (GRCm39) |
N2211D |
possibly damaging |
Het |
Tnfrsf18 |
G |
A |
4: 156,112,881 (GRCm39) |
|
probably null |
Het |
Tnik |
T |
G |
3: 28,596,121 (GRCm39) |
D171E |
probably damaging |
Het |
Ttc23l |
T |
A |
15: 10,533,745 (GRCm39) |
H266L |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,725,114 (GRCm39) |
S2037* |
probably null |
Het |
Tuba3a |
G |
A |
6: 125,258,273 (GRCm39) |
T239I |
probably damaging |
Het |
Usp25 |
T |
A |
16: 76,890,594 (GRCm39) |
D767E |
probably benign |
Het |
Whrn |
G |
T |
4: 63,350,080 (GRCm39) |
H546N |
probably benign |
Het |
Xirp2 |
C |
T |
2: 67,341,506 (GRCm39) |
T1249I |
probably damaging |
Het |
Zbtb1 |
T |
A |
12: 76,433,014 (GRCm39) |
D333E |
probably damaging |
Het |
Zfp689 |
T |
G |
7: 127,047,987 (GRCm39) |
E15A |
possibly damaging |
Het |
Zhx3 |
A |
G |
2: 160,621,788 (GRCm39) |
M793T |
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 |
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'- ACGTAAACACAGAGTGCGATTATG -3'
(R):5'- AAGAAAGGGGTGATCTTGCCC -3'
Sequencing Primer
(F):5'- GATGAACATGTTAAAGGCAGCACTTC -3'
(R):5'- GGAACCCCAAGACCCATCTTTTG -3'
|
Posted On |
2016-07-22 |