Incidental Mutation 'R1510:Slc8a1'
| ID |
167897 |
| 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 |
039557-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1510 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
81680534-82045806 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81955547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 497
(V497D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083725
(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: V497D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083725
Gene: ENSMUSG00000054640
AA Change: V497D
| 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: V497D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132809
Gene: ENSMUSG00000054640
AA Change: V497D
| 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: V497D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000126373
Gene: ENSMUSG00000054640
AA Change: V497D
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| Validation Efficiency |
100% (79/79) |
| 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 |
|---|
| Abcd2 |
A |
G |
15: 91,073,181 (GRCm39) |
L326S |
probably damaging |
Het |
| Adam18 |
T |
A |
8: 25,115,847 (GRCm39) |
T616S |
probably benign |
Het |
| Adam22 |
T |
C |
5: 8,202,408 (GRCm39) |
K215E |
probably benign |
Het |
| Ahi1 |
T |
G |
10: 20,835,699 (GRCm39) |
S11A |
probably benign |
Het |
| Asb18 |
T |
C |
1: 89,923,976 (GRCm39) |
M96V |
possibly damaging |
Het |
| Baz2b |
T |
C |
2: 59,752,553 (GRCm39) |
D1149G |
probably damaging |
Het |
| C1qtnf3 |
A |
G |
15: 10,975,722 (GRCm39) |
E176G |
probably benign |
Het |
| Cd151 |
T |
A |
7: 141,050,280 (GRCm39) |
S172T |
probably benign |
Het |
| Cdh2 |
G |
T |
18: 16,781,651 (GRCm39) |
L90I |
probably benign |
Het |
| Cdkl3 |
T |
C |
11: 51,924,341 (GRCm39) |
V55A |
possibly damaging |
Het |
| Cfap90 |
T |
A |
13: 68,745,596 (GRCm39) |
M1K |
probably null |
Het |
| Chst8 |
T |
A |
7: 34,374,693 (GRCm39) |
H382L |
probably benign |
Het |
| Cyb5r4 |
T |
C |
9: 86,948,696 (GRCm39) |
|
probably benign |
Het |
| Cyp2j13 |
T |
C |
4: 95,950,209 (GRCm39) |
D264G |
possibly damaging |
Het |
| Daam1 |
A |
G |
12: 72,024,500 (GRCm39) |
M814V |
probably damaging |
Het |
| Ddx19b |
A |
G |
8: 111,742,285 (GRCm39) |
I150T |
probably damaging |
Het |
| Dync1li1 |
T |
G |
9: 114,518,278 (GRCm39) |
S50A |
possibly damaging |
Het |
| Fat3 |
A |
T |
9: 15,871,351 (GRCm39) |
L3680Q |
probably damaging |
Het |
| Fermt1 |
C |
T |
2: 132,766,942 (GRCm39) |
E342K |
probably benign |
Het |
| Gm21286 |
T |
G |
4: 60,794,931 (GRCm39) |
|
noncoding transcript |
Het |
| Il6 |
T |
C |
5: 30,223,060 (GRCm39) |
Y126H |
probably damaging |
Het |
| Inhba |
G |
T |
13: 16,201,607 (GRCm39) |
V390L |
probably damaging |
Het |
| Ino80 |
C |
T |
2: 119,280,530 (GRCm39) |
R278H |
probably damaging |
Het |
| Jade3 |
T |
G |
X: 20,384,057 (GRCm39) |
N799K |
probably benign |
Het |
| Kcnn1 |
G |
A |
8: 71,316,714 (GRCm39) |
|
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,765,848 (GRCm39) |
T585A |
probably damaging |
Het |
| Kmt2d |
T |
A |
15: 98,754,258 (GRCm39) |
|
probably benign |
Het |
| Krt17 |
C |
T |
11: 100,148,365 (GRCm39) |
E359K |
possibly damaging |
Het |
| Lce1b |
T |
G |
3: 92,563,283 (GRCm39) |
R83S |
unknown |
Het |
| Lck |
T |
C |
4: 129,449,461 (GRCm39) |
S290G |
possibly damaging |
Het |
| Ltbp3 |
T |
C |
19: 5,798,915 (GRCm39) |
S544P |
probably benign |
Het |
| Lypd6b |
T |
A |
2: 49,824,831 (GRCm39) |
S4R |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,328,555 (GRCm39) |
D4724G |
probably null |
Het |
| Mcoln2 |
A |
G |
3: 145,882,365 (GRCm39) |
T255A |
probably benign |
Het |
| Mcph1 |
T |
A |
8: 18,682,703 (GRCm39) |
|
probably null |
Het |
| Mki67 |
C |
A |
7: 135,297,900 (GRCm39) |
R2378L |
probably benign |
Het |
| Mxd1 |
A |
G |
6: 86,630,137 (GRCm39) |
V27A |
possibly damaging |
Het |
| Myo5a |
T |
C |
9: 75,078,833 (GRCm39) |
Y864H |
probably benign |
Het |
| Ndel1 |
A |
T |
11: 68,713,482 (GRCm39) |
N318K |
possibly damaging |
Het |
| Oasl1 |
A |
G |
5: 115,066,167 (GRCm39) |
Q95R |
probably benign |
Het |
| Or5ac16 |
A |
T |
16: 59,022,546 (GRCm39) |
M81K |
probably damaging |
Het |
| Or5j3 |
T |
C |
2: 86,128,715 (GRCm39) |
L185P |
probably damaging |
Het |
| Or5p57 |
T |
C |
7: 107,665,735 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or6b2b |
A |
T |
1: 92,419,339 (GRCm39) |
I46N |
probably damaging |
Het |
| Parp10 |
T |
A |
15: 76,125,617 (GRCm39) |
Q487L |
probably damaging |
Het |
| Pcdh10 |
C |
T |
3: 45,333,838 (GRCm39) |
R51C |
probably damaging |
Het |
| Pdpr |
A |
T |
8: 111,851,107 (GRCm39) |
|
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,060 (GRCm39) |
D437V |
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 115,987,280 (GRCm39) |
T547I |
probably benign |
Het |
| Pkdrej |
A |
C |
15: 85,700,963 (GRCm39) |
S1658A |
possibly damaging |
Het |
| Pkn3 |
T |
C |
2: 29,969,776 (GRCm39) |
|
probably null |
Het |
| Plekhh2 |
A |
G |
17: 84,867,004 (GRCm39) |
|
probably null |
Het |
| Plxdc1 |
A |
T |
11: 97,823,150 (GRCm39) |
C357S |
probably damaging |
Het |
| Pnp |
A |
G |
14: 51,188,042 (GRCm39) |
T132A |
possibly damaging |
Het |
| Prorp |
A |
T |
12: 55,350,997 (GRCm39) |
Q102L |
probably benign |
Het |
| Rcan2 |
A |
G |
17: 44,147,315 (GRCm39) |
D51G |
probably damaging |
Het |
| Rcn1 |
T |
C |
2: 105,219,434 (GRCm39) |
N253S |
probably damaging |
Het |
| Rreb1 |
T |
A |
13: 38,115,860 (GRCm39) |
I1073N |
probably benign |
Het |
| Scaf4 |
G |
T |
16: 90,042,282 (GRCm39) |
D686E |
unknown |
Het |
| Sfxn5 |
A |
C |
6: 85,213,907 (GRCm39) |
M221R |
probably damaging |
Het |
| Slc38a1 |
A |
G |
15: 96,507,741 (GRCm39) |
F104L |
probably damaging |
Het |
| Spryd3 |
C |
A |
15: 102,027,396 (GRCm39) |
G290C |
probably damaging |
Het |
| Stc2 |
A |
T |
11: 31,315,418 (GRCm39) |
Y140* |
probably null |
Het |
| Stfa2 |
A |
T |
16: 36,228,673 (GRCm39) |
I8K |
possibly damaging |
Het |
| Sult3a2 |
A |
T |
10: 33,658,026 (GRCm39) |
M29K |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Triobp |
G |
A |
15: 78,887,967 (GRCm39) |
R1908Q |
probably damaging |
Het |
| Trpm2 |
T |
A |
10: 77,802,828 (GRCm39) |
R7* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,782,501 (GRCm39) |
I912V |
probably benign |
Het |
| Tusc2 |
T |
A |
9: 107,442,080 (GRCm39) |
V93E |
probably damaging |
Het |
| Uhrf2 |
T |
A |
19: 30,016,461 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
G |
A |
17: 31,178,203 (GRCm39) |
V60M |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,380,501 (GRCm39) |
D2270V |
probably damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,005,553 (GRCm39) |
T397A |
possibly damaging |
Het |
| Wbp2 |
A |
G |
11: 115,977,708 (GRCm39) |
V15A |
probably benign |
Het |
| Zfp182 |
T |
A |
X: 20,896,446 (GRCm39) |
R617W |
probably damaging |
Het |
| Zfp82 |
C |
A |
7: 29,756,047 (GRCm39) |
R345L |
probably damaging |
Het |
| Zfp85 |
T |
C |
13: 67,903,084 (GRCm39) |
|
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 |
|
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 |
|
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'- TGATGCCAATGCTCTCGCTCAC -3'
(R):5'- GGCTGAAAACGACCCAGTCAGTAAG -3'
Sequencing Primer
(F):5'- ACGTGAGTCACGGGTTCC -3'
(R):5'- CATACCAGTGTCTAGAGAACTGTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation