Incidental Mutation 'R8905:Slc8a1'
ID |
680060 |
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 |
068762-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8905 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
81680534-82045806 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 81749084 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 653
(Y653N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126373
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086538]
[ENSMUST00000163123]
[ENSMUST00000163680]
[ENSMUST00000168858]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086538
AA Change: Y653N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000083725 Gene: ENSMUSG00000054640 AA Change: Y653N
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 benign
Transcript: ENSMUST00000163123
|
SMART Domains |
Protein: ENSMUSP00000132809 Gene: ENSMUSG00000054640
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 benign
Transcript: ENSMUST00000163680
AA Change: Y653N
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000126373 Gene: ENSMUSG00000054640 AA Change: Y653N
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 benign
Transcript: ENSMUST00000168858
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
100% (77/77) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013G24Rik |
T |
C |
4: 137,182,553 (GRCm39) |
V236A |
probably benign |
Het |
Abca15 |
A |
T |
7: 119,960,771 (GRCm39) |
R744S |
probably benign |
Het |
Adgra1 |
T |
C |
7: 139,455,763 (GRCm39) |
S464P |
probably damaging |
Het |
Arhgap45 |
T |
C |
10: 79,855,570 (GRCm39) |
V3A |
probably benign |
Het |
AW554918 |
T |
A |
18: 25,473,206 (GRCm39) |
S134T |
probably damaging |
Het |
Bmper |
A |
G |
9: 23,318,082 (GRCm39) |
E567G |
probably benign |
Het |
C2cd3 |
T |
C |
7: 100,074,132 (GRCm39) |
|
probably null |
Het |
Cars1 |
A |
G |
7: 143,140,196 (GRCm39) |
Y170H |
probably damaging |
Het |
Celsr1 |
A |
T |
15: 85,788,269 (GRCm39) |
|
probably benign |
Het |
Celsr3 |
C |
T |
9: 108,718,501 (GRCm39) |
H2351Y |
probably damaging |
Het |
Cfap210 |
A |
G |
2: 69,612,104 (GRCm39) |
S175P |
probably benign |
Het |
Clxn |
A |
G |
16: 14,738,275 (GRCm39) |
I147V |
possibly damaging |
Het |
Cyp2d11 |
T |
C |
15: 82,275,102 (GRCm39) |
I282V |
probably benign |
Het |
Dhfr |
A |
G |
13: 92,494,467 (GRCm39) |
T57A |
probably damaging |
Het |
Dhrs7l |
T |
A |
12: 72,666,431 (GRCm39) |
D80V |
probably damaging |
Het |
Dnah7b |
A |
C |
1: 46,292,534 (GRCm39) |
Q2973P |
probably damaging |
Het |
Dnajc5b |
T |
C |
3: 19,633,184 (GRCm39) |
C136R |
probably benign |
Het |
Ercc3 |
T |
G |
18: 32,398,771 (GRCm39) |
D683E |
possibly damaging |
Het |
Faxc |
A |
G |
4: 21,982,398 (GRCm39) |
Y279C |
probably damaging |
Het |
Fbxw7 |
T |
C |
3: 84,872,634 (GRCm39) |
M191T |
possibly damaging |
Het |
Fcgbp |
T |
A |
7: 27,785,934 (GRCm39) |
V457E |
probably damaging |
Het |
Fip1l1 |
A |
T |
5: 74,756,624 (GRCm39) |
T539S |
probably damaging |
Het |
Gabra1 |
T |
C |
11: 42,038,052 (GRCm39) |
T189A |
possibly damaging |
Het |
Glg1 |
T |
C |
8: 111,884,668 (GRCm39) |
D1118G |
probably damaging |
Het |
Gli3 |
A |
G |
13: 15,901,116 (GRCm39) |
D1501G |
probably benign |
Het |
Hacd1 |
A |
G |
2: 14,049,761 (GRCm39) |
I91T |
possibly damaging |
Het |
Ift22 |
T |
C |
5: 136,941,745 (GRCm39) |
V159A |
probably benign |
Het |
Igkv1-110 |
T |
A |
6: 68,248,070 (GRCm39) |
Y60N |
probably damaging |
Het |
Inpp5d |
A |
G |
1: 87,637,348 (GRCm39) |
K502E |
probably damaging |
Het |
Kcnt2 |
A |
T |
1: 140,435,467 (GRCm39) |
Q478L |
possibly damaging |
Het |
Mettl13 |
A |
G |
1: 162,364,847 (GRCm39) |
F511L |
probably damaging |
Het |
Mis18bp1 |
T |
C |
12: 65,180,401 (GRCm39) |
|
probably null |
Het |
Mrps30 |
A |
T |
13: 118,523,479 (GRCm39) |
S98T |
probably benign |
Het |
Muc2 |
C |
T |
7: 141,279,643 (GRCm39) |
A209V |
probably benign |
Het |
Nfs1 |
A |
T |
2: 155,970,503 (GRCm39) |
I270N |
probably damaging |
Het |
Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
Nsmaf |
A |
G |
4: 6,424,951 (GRCm39) |
S266P |
probably benign |
Het |
Obscn |
A |
G |
11: 58,960,784 (GRCm39) |
S3176P |
probably damaging |
Het |
Or4c123 |
A |
T |
2: 89,126,801 (GRCm39) |
L271Q |
possibly damaging |
Het |
Or7g12 |
A |
G |
9: 18,899,494 (GRCm39) |
D70G |
possibly damaging |
Het |
P2ry12 |
T |
A |
3: 59,124,997 (GRCm39) |
Y226F |
probably damaging |
Het |
Pabpc2 |
C |
A |
18: 39,907,704 (GRCm39) |
T323K |
probably benign |
Het |
Pank2 |
A |
G |
2: 131,124,646 (GRCm39) |
D71G |
possibly damaging |
Het |
Patj |
A |
T |
4: 98,385,412 (GRCm39) |
H393L |
probably damaging |
Het |
Pde8b |
A |
G |
13: 95,182,993 (GRCm39) |
V255A |
probably damaging |
Het |
Plekhs1 |
T |
C |
19: 56,471,028 (GRCm39) |
W374R |
probably damaging |
Het |
Ppm1g |
T |
C |
5: 31,361,437 (GRCm39) |
D313G |
probably damaging |
Het |
Rnf114 |
A |
G |
2: 167,353,134 (GRCm39) |
N135S |
probably benign |
Het |
Rnf43 |
T |
G |
11: 87,621,951 (GRCm39) |
Y351D |
probably damaging |
Het |
Robo1 |
A |
T |
16: 72,539,173 (GRCm39) |
D90V |
probably damaging |
Het |
Sbds |
A |
G |
5: 130,277,125 (GRCm39) |
V172A |
possibly damaging |
Het |
Scamp5 |
T |
A |
9: 57,352,669 (GRCm39) |
I167F |
probably benign |
Het |
Sec14l5 |
A |
G |
16: 4,994,364 (GRCm39) |
E386G |
probably damaging |
Het |
Sfxn1 |
T |
A |
13: 54,246,433 (GRCm39) |
V159E |
probably damaging |
Het |
Sgsm1 |
C |
T |
5: 113,421,495 (GRCm39) |
G531R |
probably benign |
Het |
Slc22a26 |
T |
A |
19: 7,760,331 (GRCm39) |
I471F |
probably damaging |
Het |
Slc41a3 |
T |
A |
6: 90,589,123 (GRCm39) |
M78K |
probably benign |
Het |
Slco6c1 |
A |
T |
1: 97,053,391 (GRCm39) |
M170K |
possibly damaging |
Het |
Smarca5 |
A |
T |
8: 81,440,577 (GRCm39) |
I629K |
probably benign |
Het |
Smg7 |
T |
A |
1: 152,715,817 (GRCm39) |
D1099V |
probably damaging |
Het |
Spata31e2 |
A |
G |
1: 26,721,895 (GRCm39) |
V1095A |
probably damaging |
Het |
Srbd1 |
T |
C |
17: 86,308,890 (GRCm39) |
I763V |
probably benign |
Het |
Stk25 |
A |
G |
1: 93,556,929 (GRCm39) |
S30P |
probably damaging |
Het |
Sv2b |
C |
T |
7: 74,767,459 (GRCm39) |
A646T |
probably benign |
Het |
Tardbp |
T |
C |
4: 148,705,093 (GRCm39) |
M167V |
probably benign |
Het |
Tmem132a |
T |
C |
19: 10,842,647 (GRCm39) |
N276S |
probably damaging |
Het |
Ttpa |
T |
A |
4: 20,028,435 (GRCm39) |
S162T |
probably benign |
Het |
Usp13 |
T |
C |
3: 32,935,572 (GRCm39) |
Y333H |
probably damaging |
Het |
Vmn2r3 |
T |
A |
3: 64,166,695 (GRCm39) |
Y812F |
probably damaging |
Het |
Yeats2 |
A |
G |
16: 20,009,144 (GRCm39) |
T463A |
probably benign |
Het |
Zbtb26 |
T |
A |
2: 37,326,927 (GRCm39) |
K36N |
probably benign |
Het |
Zfc3h1 |
A |
T |
10: 115,259,383 (GRCm39) |
T1652S |
probably benign |
Het |
Zfp472 |
G |
A |
17: 33,197,455 (GRCm39) |
C510Y |
possibly damaging |
Het |
Zfp518a |
C |
A |
19: 40,902,780 (GRCm39) |
T903K |
probably damaging |
Het |
Zfp668 |
T |
C |
7: 127,465,598 (GRCm39) |
T529A |
probably benign |
Het |
Zfp930 |
A |
G |
8: 69,681,351 (GRCm39) |
T349A |
possibly damaging |
Het |
Zmiz2 |
T |
G |
11: 6,346,840 (GRCm39) |
Y182D |
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 |
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 |
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 |
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'- ACAAACAGTTAGAGGTTCTGCC -3'
(R):5'- AAATCTGGCAATTGTTCAGGTG -3'
Sequencing Primer
(F):5'- CTGCCTGTGAGTTTTGTTATAGATAG -3'
(R):5'- ACTGTTACTGTCACCACC -3'
|
Posted On |
2021-08-31 |