Incidental Mutation 'R7572:Slc8a1'
| ID |
586116 |
| 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 |
045658-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7572 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
81680534-82045806 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 81749200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086538]
[ENSMUST00000163123]
[ENSMUST00000163680]
[ENSMUST00000168858]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000086538
|
| SMART Domains |
Protein: ENSMUSP00000083725
Gene: ENSMUSG00000054640
| 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 null
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 null
Transcript: ENSMUST00000163680
|
| SMART Domains |
Protein: ENSMUSP00000126373
Gene: ENSMUSG00000054640
| 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 |
silent
Transcript: ENSMUST00000168858
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
95% (56/59) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
A |
14: 59,380,128 (GRCm39) |
T57S |
possibly damaging |
Het |
| Adamts1 |
A |
G |
16: 85,594,629 (GRCm39) |
Y670H |
possibly damaging |
Het |
| Akr1b7 |
A |
T |
6: 34,396,343 (GRCm39) |
I185F |
probably damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,312,097 (GRCm39) |
N683D |
probably benign |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Chrna5 |
T |
A |
9: 54,913,749 (GRCm39) |
W432R |
probably damaging |
Het |
| Chrng |
T |
A |
1: 87,136,836 (GRCm39) |
L235Q |
probably damaging |
Het |
| Ciao1 |
A |
T |
2: 127,088,631 (GRCm39) |
C97* |
probably null |
Het |
| Cpt2 |
G |
T |
4: 107,764,745 (GRCm39) |
H340N |
probably damaging |
Het |
| Dmtn |
A |
T |
14: 70,842,777 (GRCm39) |
M328K |
possibly damaging |
Het |
| Dusp10 |
T |
A |
1: 183,806,506 (GRCm39) |
V413E |
probably damaging |
Het |
| Epha3 |
A |
T |
16: 63,431,443 (GRCm39) |
L487* |
probably null |
Het |
| Esco2 |
A |
G |
14: 66,068,641 (GRCm39) |
V223A |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,245,739 (GRCm39) |
D1139E |
possibly damaging |
Het |
| Gemin4 |
A |
G |
11: 76,104,408 (GRCm39) |
S118P |
probably damaging |
Het |
| Gm3604 |
A |
G |
13: 62,518,060 (GRCm39) |
I79T |
probably damaging |
Het |
| Gpatch3 |
T |
C |
4: 133,302,117 (GRCm39) |
V16A |
probably benign |
Het |
| Hcn4 |
A |
G |
9: 58,731,063 (GRCm39) |
N90S |
unknown |
Het |
| Hr |
C |
T |
14: 70,799,293 (GRCm39) |
H593Y |
possibly damaging |
Het |
| Igkv4-50 |
A |
G |
6: 69,677,951 (GRCm39) |
V51A |
probably damaging |
Het |
| Insr |
C |
A |
8: 3,223,602 (GRCm39) |
V844F |
probably benign |
Het |
| Iqcn |
T |
C |
8: 71,162,075 (GRCm39) |
S423P |
probably benign |
Het |
| Kcns2 |
T |
C |
15: 34,839,318 (GRCm39) |
F227S |
possibly damaging |
Het |
| Map4k1 |
A |
G |
7: 28,686,563 (GRCm39) |
I162V |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Neurog2 |
A |
G |
3: 127,427,550 (GRCm39) |
E58G |
probably damaging |
Het |
| Or4x6 |
T |
C |
2: 89,949,087 (GRCm39) |
Y285C |
probably damaging |
Het |
| Or5h25 |
T |
A |
16: 58,930,793 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or7e174 |
T |
G |
9: 20,012,154 (GRCm39) |
L33W |
probably damaging |
Het |
| Orc4 |
A |
T |
2: 48,800,248 (GRCm39) |
M300K |
probably benign |
Het |
| Plch1 |
T |
C |
3: 63,648,105 (GRCm39) |
D422G |
possibly damaging |
Het |
| Prox1 |
T |
C |
1: 189,855,583 (GRCm39) |
E683G |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,056,704 (GRCm39) |
D1305G |
probably damaging |
Het |
| Rcor3 |
C |
A |
1: 191,822,173 (GRCm39) |
G8V |
probably damaging |
Het |
| Rex2 |
T |
G |
4: 147,142,329 (GRCm39) |
I272M |
probably damaging |
Het |
| Rpa2 |
T |
C |
4: 132,496,014 (GRCm39) |
S12P |
possibly damaging |
Het |
| Samd15 |
C |
A |
12: 87,248,350 (GRCm39) |
P345Q |
probably damaging |
Het |
| Sema5a |
T |
A |
15: 32,673,574 (GRCm39) |
I804N |
probably damaging |
Het |
| Sgsm3 |
G |
A |
15: 80,891,667 (GRCm39) |
R165H |
possibly damaging |
Het |
| Slc22a30 |
T |
G |
19: 8,313,072 (GRCm39) |
M467L |
unknown |
Het |
| Slc2a5 |
T |
C |
4: 150,226,642 (GRCm39) |
I368T |
probably benign |
Het |
| Snap91 |
T |
C |
9: 86,688,547 (GRCm39) |
T331A |
possibly damaging |
Het |
| Soat2 |
G |
T |
15: 102,062,456 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
C |
A |
7: 27,071,697 (GRCm39) |
R1589L |
probably damaging |
Het |
| Stk38l |
A |
G |
6: 146,677,152 (GRCm39) |
Y443C |
probably damaging |
Het |
| Sult5a1 |
T |
C |
8: 123,872,117 (GRCm39) |
I242V |
probably benign |
Het |
| Susd3 |
T |
C |
13: 49,384,638 (GRCm39) |
R262G |
probably benign |
Het |
| Syt9 |
A |
G |
7: 107,035,784 (GRCm39) |
D267G |
probably damaging |
Het |
| Tbce |
A |
G |
13: 14,185,172 (GRCm39) |
V172A |
probably benign |
Het |
| Tcstv3 |
A |
T |
13: 120,779,107 (GRCm39) |
D2V |
possibly damaging |
Het |
| Tmod1 |
T |
A |
4: 46,083,593 (GRCm39) |
S7R |
possibly damaging |
Het |
| Ubqln4 |
C |
T |
3: 88,462,731 (GRCm39) |
|
probably benign |
Het |
| Ucp2 |
T |
C |
7: 100,146,514 (GRCm39) |
|
probably null |
Het |
| Usp30 |
G |
A |
5: 114,258,308 (GRCm39) |
S306N |
probably benign |
Het |
| Usp5 |
A |
T |
6: 124,794,970 (GRCm39) |
I660N |
probably damaging |
Het |
| Vmn1r43 |
A |
G |
6: 89,846,547 (GRCm39) |
V313A |
possibly damaging |
Het |
| Wdr49 |
T |
C |
3: 75,265,744 (GRCm39) |
H234R |
possibly damaging |
Het |
| Wdr70 |
T |
C |
15: 8,065,327 (GRCm39) |
D245G |
possibly damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,859,172 (GRCm39) |
K1068E |
probably benign |
Het |
| Zfp141 |
T |
C |
7: 42,124,856 (GRCm39) |
K539E |
probably benign |
Het |
| Zfp758 |
T |
A |
17: 22,593,872 (GRCm39) |
H119Q |
possibly 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 |
|
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'- ATTGGGCCCTGAACTGCATAG -3'
Sequencing Primer
(F):5'- CACACACAGGCTCTTGTTAATTTG -3'
(R):5'- TCAGGTGGGTTGTCAAAT -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation