Incidental Mutation 'R7431:Slc8a1'
| ID |
576505 |
| 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 |
045509-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7431 (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 A
at 81749092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Isoleucine
at position 650
(K650I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083725
(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: K650I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000083725
Gene: ENSMUSG00000054640
AA Change: K650I
| 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: K650I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126373
Gene: ENSMUSG00000054640
AA Change: K650I
| 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 |
97% (77/79) |
| 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 |
|---|
| Abca9 |
CA |
C |
11: 110,018,252 (GRCm39) |
|
probably null |
Het |
| Abcf3 |
G |
T |
16: 20,377,539 (GRCm39) |
R510L |
probably benign |
Het |
| Abcg4 |
T |
A |
9: 44,185,997 (GRCm39) |
I625F |
possibly damaging |
Het |
| Adam22 |
A |
T |
5: 8,142,818 (GRCm39) |
S806T |
probably damaging |
Het |
| Adcy4 |
T |
C |
14: 56,010,129 (GRCm39) |
I718V |
probably benign |
Het |
| Adgb |
A |
T |
10: 10,267,699 (GRCm39) |
|
probably null |
Het |
| Aldoart1 |
T |
A |
4: 72,769,678 (GRCm39) |
K377* |
probably null |
Het |
| Apc2 |
T |
A |
10: 80,138,017 (GRCm39) |
V100E |
possibly damaging |
Het |
| Asxl3 |
T |
G |
18: 22,650,010 (GRCm39) |
D666E |
probably damaging |
Het |
| Atg4c |
A |
T |
4: 99,109,632 (GRCm39) |
I200F |
possibly damaging |
Het |
| Atp1a4 |
A |
G |
1: 172,078,474 (GRCm39) |
F255L |
probably benign |
Het |
| Bod1l |
A |
C |
5: 41,970,463 (GRCm39) |
|
probably null |
Het |
| Cacna2d4 |
A |
T |
6: 119,221,237 (GRCm39) |
T250S |
probably damaging |
Het |
| Ccdc202 |
A |
G |
14: 96,119,273 (GRCm39) |
H10R |
probably benign |
Het |
| Ccng1 |
G |
A |
11: 40,644,745 (GRCm39) |
R51W |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 160,868,248 (GRCm39) |
E366G |
possibly damaging |
Het |
| Clca4b |
A |
T |
3: 144,616,894 (GRCm39) |
S919T |
probably benign |
Het |
| Col5a3 |
T |
C |
9: 20,682,131 (GRCm39) |
*1740W |
probably null |
Het |
| Col6a5 |
A |
T |
9: 105,805,468 (GRCm39) |
I1146K |
unknown |
Het |
| Cpxm1 |
T |
C |
2: 130,235,966 (GRCm39) |
T399A |
probably benign |
Het |
| Cpz |
T |
C |
5: 35,668,486 (GRCm39) |
T375A |
probably benign |
Het |
| Cyp2b13 |
T |
A |
7: 25,760,976 (GRCm39) |
V11D |
probably damaging |
Het |
| Cyp39a1 |
A |
G |
17: 43,993,906 (GRCm39) |
T189A |
probably benign |
Het |
| Desi2 |
C |
T |
1: 178,084,007 (GRCm39) |
Q52* |
probably null |
Het |
| Dhx15 |
A |
G |
5: 52,319,953 (GRCm39) |
V418A |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,650,967 (GRCm39) |
M978L |
probably damaging |
Het |
| Dpagt1 |
T |
A |
9: 44,237,384 (GRCm39) |
C17* |
probably null |
Het |
| Dph5 |
A |
T |
3: 115,686,381 (GRCm39) |
K52N |
possibly damaging |
Het |
| Dpp4 |
G |
T |
2: 62,182,582 (GRCm39) |
N566K |
probably benign |
Het |
| Elavl4 |
T |
C |
4: 110,083,830 (GRCm39) |
Y94C |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,199,927 (GRCm39) |
T1049I |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,063,306 (GRCm39) |
Y4421N |
possibly damaging |
Het |
| Fcrl2 |
C |
A |
3: 87,166,233 (GRCm39) |
A181S |
probably damaging |
Het |
| Garre1 |
T |
C |
7: 33,984,219 (GRCm39) |
I135V |
possibly damaging |
Het |
| Glg1 |
G |
T |
8: 111,887,386 (GRCm39) |
N456K |
unknown |
Het |
| Gm10228 |
A |
G |
16: 88,838,101 (GRCm39) |
S68P |
unknown |
Het |
| Golga4 |
G |
A |
9: 118,388,799 (GRCm39) |
E1974K |
probably damaging |
Het |
| Heatr9 |
G |
T |
11: 83,410,094 (GRCm39) |
P49Q |
probably damaging |
Het |
| Hmgxb3 |
A |
T |
18: 61,280,517 (GRCm39) |
V662D |
probably damaging |
Het |
| Hs3st4 |
T |
C |
7: 123,582,513 (GRCm39) |
L37P |
probably damaging |
Het |
| Ifi205 |
A |
T |
1: 173,855,943 (GRCm39) |
M29K |
probably benign |
Het |
| Igkv1-35 |
C |
T |
6: 69,987,988 (GRCm39) |
V103M |
probably damaging |
Het |
| Klf13 |
T |
A |
7: 63,541,504 (GRCm39) |
K208* |
probably null |
Het |
| Klhl36 |
A |
G |
8: 120,597,121 (GRCm39) |
N274S |
probably benign |
Het |
| Mosmo |
T |
A |
7: 120,329,873 (GRCm39) |
L165I |
probably benign |
Het |
| Mtcl1 |
G |
A |
17: 66,649,901 (GRCm39) |
Q1855* |
probably null |
Het |
| Muc16 |
A |
G |
9: 18,519,289 (GRCm39) |
V208A |
|
Het |
| Nin |
T |
G |
12: 70,124,997 (GRCm39) |
R108S |
|
Het |
| Odad1 |
T |
G |
7: 45,578,670 (GRCm39) |
L81R |
probably damaging |
Het |
| Or13c7d |
T |
C |
4: 43,770,882 (GRCm39) |
N43S |
probably damaging |
Het |
| Polr1a |
G |
A |
6: 71,903,643 (GRCm39) |
V319I |
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,320,282 (GRCm39) |
V337A |
possibly damaging |
Het |
| Prkar2b |
A |
T |
12: 32,013,150 (GRCm39) |
|
probably null |
Het |
| R3hdm2 |
T |
A |
10: 127,294,016 (GRCm39) |
M170K |
probably benign |
Het |
| Rbm26 |
A |
G |
14: 105,354,528 (GRCm39) |
I919T |
possibly damaging |
Het |
| Rimkla |
A |
G |
4: 119,335,008 (GRCm39) |
M125T |
probably benign |
Het |
| Sag |
T |
A |
1: 87,749,059 (GRCm39) |
F153I |
possibly damaging |
Het |
| Sbf2 |
G |
T |
7: 109,950,957 (GRCm39) |
D1163E |
probably damaging |
Het |
| Scgb2b24 |
T |
C |
7: 33,438,674 (GRCm39) |
I13V |
probably benign |
Het |
| Scin |
G |
A |
12: 40,183,921 (GRCm39) |
H63Y |
probably damaging |
Het |
| Sele |
A |
G |
1: 163,879,189 (GRCm39) |
T275A |
probably damaging |
Het |
| Slc22a15 |
T |
A |
3: 101,805,256 (GRCm39) |
T144S |
probably benign |
Het |
| Slc9c1 |
G |
T |
16: 45,413,847 (GRCm39) |
V992F |
probably damaging |
Het |
| Spag16 |
A |
T |
1: 69,963,031 (GRCm39) |
T393S |
unknown |
Het |
| Taf15 |
G |
A |
11: 83,395,779 (GRCm39) |
D495N |
unknown |
Het |
| Tas2r144 |
T |
A |
6: 42,192,908 (GRCm39) |
I216N |
probably damaging |
Het |
| Tbccd1 |
G |
T |
16: 22,644,563 (GRCm39) |
P271Q |
probably benign |
Het |
| Tcf4 |
C |
A |
18: 69,480,249 (GRCm39) |
|
probably null |
Het |
| Thap4 |
A |
T |
1: 93,678,223 (GRCm39) |
S188T |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,191,470 (GRCm39) |
V493A |
probably benign |
Het |
| Trip11 |
A |
G |
12: 101,850,278 (GRCm39) |
V1262A |
possibly damaging |
Het |
| Tspan2 |
T |
A |
3: 102,657,107 (GRCm39) |
W35R |
probably damaging |
Het |
| Usp39 |
G |
T |
6: 72,313,251 (GRCm39) |
T313N |
possibly damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,327,306 (GRCm39) |
L638Q |
probably damaging |
Het |
| Vps29 |
T |
C |
5: 122,492,541 (GRCm39) |
V2A |
probably benign |
Het |
| Wrap53 |
A |
G |
11: 69,469,313 (GRCm39) |
F148L |
possibly damaging |
Het |
| Znfx1 |
T |
C |
2: 166,897,712 (GRCm39) |
Y404C |
probably damaging |
Het |
| Zrsr2-ps1 |
A |
G |
11: 22,923,580 (GRCm39) |
E118G |
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 |
|
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 |
|
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'- ACAAACAGTTAGAGGTTCTGCC -3'
(R):5'- AATCTGGCAATTGTTCAGGTG -3'
Sequencing Primer
(F):5'- CTGCCTGTGAGTTTTGTTATAGATAG -3'
(R):5'- CTGTTACTGTCACCACCAA -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation