Incidental Mutation 'R7480:Slc8a1'
| ID |
579770 |
| 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 |
045554-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7480 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
81680534-82045806 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81956649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 130
(T130A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132809
(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: T130A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083725
Gene: ENSMUSG00000054640
AA Change: T130A
| 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: T130A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132809
Gene: ENSMUSG00000054640
AA Change: T130A
| 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: T130A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126373
Gene: ENSMUSG00000054640
AA Change: T130A
| 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 |
0.6989 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (64/64) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg9 |
T |
G |
9: 50,733,928 (GRCm39) |
M542R |
probably benign |
Het |
| Apol10b |
G |
T |
15: 77,472,988 (GRCm39) |
A22D |
probably benign |
Het |
| Arhgap45 |
T |
A |
10: 79,862,936 (GRCm39) |
L704* |
probably null |
Het |
| Bicc1 |
T |
C |
10: 70,779,306 (GRCm39) |
D694G |
probably damaging |
Het |
| C1ql3 |
A |
T |
2: 13,015,150 (GRCm39) |
I170N |
probably damaging |
Het |
| Casz1 |
T |
C |
4: 149,029,043 (GRCm39) |
F1163L |
probably damaging |
Het |
| Ces2f |
A |
G |
8: 105,681,338 (GRCm39) |
K559R |
possibly damaging |
Het |
| Col19a1 |
C |
T |
1: 24,356,788 (GRCm39) |
G632R |
probably damaging |
Het |
| Cr2 |
C |
T |
1: 194,836,484 (GRCm39) |
C893Y |
probably damaging |
Het |
| Csf1r |
T |
G |
18: 61,250,610 (GRCm39) |
D440E |
probably benign |
Het |
| Cul9 |
A |
T |
17: 46,848,738 (GRCm39) |
M666K |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,905,311 (GRCm39) |
D1007G |
probably benign |
Het |
| Dlk1 |
T |
A |
12: 109,421,540 (GRCm39) |
C85S |
probably damaging |
Het |
| Epb41l3 |
A |
C |
17: 69,568,867 (GRCm39) |
|
probably null |
Het |
| Eri2 |
T |
A |
7: 119,385,734 (GRCm39) |
R256* |
probably null |
Het |
| Fshr |
A |
C |
17: 89,292,802 (GRCm39) |
Y625* |
probably null |
Het |
| Galk2 |
A |
G |
2: 125,788,845 (GRCm39) |
I300V |
probably benign |
Het |
| Garin1a |
G |
A |
6: 29,281,435 (GRCm39) |
|
probably null |
Het |
| Gm3409 |
T |
A |
5: 146,476,311 (GRCm39) |
V154E |
probably damaging |
Het |
| Gm7356 |
A |
G |
17: 14,221,327 (GRCm39) |
I234T |
possibly damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,241,713 (GRCm39) |
Y1995C |
probably benign |
Het |
| Herc6 |
C |
T |
6: 57,558,206 (GRCm39) |
T62I |
possibly damaging |
Het |
| Hif3a |
G |
A |
7: 16,776,560 (GRCm39) |
T462I |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,552,985 (GRCm39) |
|
probably null |
Het |
| Iqca1l |
T |
G |
5: 24,751,904 (GRCm39) |
E498A |
probably damaging |
Het |
| Jrk |
G |
T |
15: 74,578,902 (GRCm39) |
P128T |
probably benign |
Het |
| Kctd14 |
T |
C |
7: 97,107,431 (GRCm39) |
F229L |
probably benign |
Het |
| Kif27 |
A |
T |
13: 58,436,025 (GRCm39) |
V1256E |
probably benign |
Het |
| Klk13 |
T |
C |
7: 43,370,846 (GRCm39) |
S133P |
probably benign |
Het |
| Mpzl1 |
A |
G |
1: 165,432,257 (GRCm39) |
V176A |
possibly damaging |
Het |
| Mxi1 |
A |
G |
19: 53,360,066 (GRCm39) |
T263A |
possibly damaging |
Het |
| Nfxl1 |
C |
T |
5: 72,716,595 (GRCm39) |
W5* |
probably null |
Het |
| Nt5dc1 |
C |
T |
10: 34,200,450 (GRCm39) |
G190R |
probably damaging |
Het |
| Nt5dc1 |
C |
A |
10: 34,200,449 (GRCm39) |
G190V |
probably damaging |
Het |
| Oprd1 |
A |
G |
4: 131,844,492 (GRCm39) |
I172T |
possibly damaging |
Het |
| Or1f19 |
A |
T |
16: 3,410,493 (GRCm39) |
T78S |
probably benign |
Het |
| Or4k38 |
A |
G |
2: 111,165,737 (GRCm39) |
S229P |
probably benign |
Het |
| Or6f1 |
A |
G |
7: 85,970,888 (GRCm39) |
S91P |
probably benign |
Het |
| Or7e173 |
C |
T |
9: 19,939,230 (GRCm39) |
M1I |
probably null |
Het |
| Pafah1b1 |
A |
C |
11: 74,576,740 (GRCm39) |
C184G |
probably damaging |
Het |
| Pde5a |
A |
T |
3: 122,596,797 (GRCm39) |
N495Y |
possibly damaging |
Het |
| Piezo1 |
A |
T |
8: 123,225,234 (GRCm39) |
Y588* |
probably null |
Het |
| Plekha7 |
A |
T |
7: 115,736,403 (GRCm39) |
|
probably null |
Het |
| Pramel11 |
T |
C |
4: 143,622,065 (GRCm39) |
D430G |
probably benign |
Het |
| Prdm11 |
T |
C |
2: 92,805,669 (GRCm39) |
K427R |
probably benign |
Het |
| Rai14 |
C |
A |
15: 10,571,622 (GRCm39) |
E940D |
probably benign |
Het |
| Rasl11b |
T |
A |
5: 74,358,771 (GRCm39) |
V92E |
possibly damaging |
Het |
| Rassf8 |
T |
A |
6: 145,765,757 (GRCm39) |
I29K |
unknown |
Het |
| Reg3a |
C |
T |
6: 78,359,330 (GRCm39) |
T110I |
probably damaging |
Het |
| Scaf1 |
C |
T |
7: 44,657,073 (GRCm39) |
G602D |
unknown |
Het |
| Senp6 |
T |
C |
9: 80,029,199 (GRCm39) |
C521R |
probably damaging |
Het |
| Senp7 |
G |
A |
16: 55,975,589 (GRCm39) |
V432I |
possibly damaging |
Het |
| Skint8 |
A |
T |
4: 111,785,784 (GRCm39) |
R77* |
probably null |
Het |
| Slamf9 |
G |
A |
1: 172,305,040 (GRCm39) |
C218Y |
probably damaging |
Het |
| Smpdl3a |
A |
G |
10: 57,678,574 (GRCm39) |
I126V |
possibly damaging |
Het |
| Taar9 |
T |
A |
10: 23,984,843 (GRCm39) |
N197I |
possibly damaging |
Het |
| Tango6 |
A |
T |
8: 107,423,359 (GRCm39) |
D378V |
possibly damaging |
Het |
| Tfb2m |
A |
G |
1: 179,356,747 (GRCm39) |
F396L |
probably benign |
Het |
| Thbs4 |
G |
A |
13: 92,903,729 (GRCm39) |
P429L |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,934,747 (GRCm39) |
D2452G |
probably damaging |
Het |
| Ulk3 |
C |
T |
9: 57,498,523 (GRCm39) |
R131* |
probably null |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,558 (GRCm39) |
R250* |
probably null |
Het |
| Vmn1r54 |
A |
G |
6: 90,246,160 (GRCm39) |
I25V |
possibly damaging |
Het |
| Wnt7a |
C |
A |
6: 91,371,395 (GRCm39) |
R189L |
probably benign |
Het |
| Wrap73 |
A |
G |
4: 154,237,043 (GRCm39) |
D210G |
probably benign |
Het |
| Xpo6 |
G |
A |
7: 125,701,505 (GRCm39) |
R1112* |
probably null |
Het |
| Zfp114 |
T |
A |
7: 23,881,307 (GRCm39) |
V552D |
probably damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
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 |
|
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 |
|
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'- ACGCAGATGCTTGATCTTCC -3'
(R):5'- CCCCAAGACCCATCTTTTGG -3'
Sequencing Primer
(F):5'- TCTCTCCATCAGGGACCACG -3'
(R):5'- TGGGGACAAAATTGCTAGAGC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation