Incidental Mutation 'R0485:Slc8a1'
| ID |
42247 |
| 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 |
038684-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0485 (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 81955422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 539
(F539I)
|
| 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: F539I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000083725
Gene: ENSMUSG00000054640
AA Change: F539I
| 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: F539I
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132809
Gene: ENSMUSG00000054640
AA Change: F539I
| 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: F539I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126373
Gene: ENSMUSG00000054640
AA Change: F539I
| 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 |
0.4570 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.4%
|
| Validation Efficiency |
100% (95/95) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700037C18Rik |
A |
G |
16: 3,725,511 (GRCm39) |
V5A |
probably damaging |
Het |
| Abi3bp |
A |
G |
16: 56,424,375 (GRCm39) |
|
probably null |
Het |
| Acot11 |
G |
A |
4: 106,619,224 (GRCm39) |
R184C |
probably damaging |
Het |
| Adgre5 |
A |
T |
8: 84,458,627 (GRCm39) |
I133N |
probably damaging |
Het |
| Afap1 |
A |
T |
5: 36,108,347 (GRCm39) |
Q231L |
probably damaging |
Het |
| Alg12 |
T |
C |
15: 88,695,630 (GRCm39) |
T289A |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,718,374 (GRCm39) |
S542T |
possibly damaging |
Het |
| Ankmy2 |
G |
A |
12: 36,232,389 (GRCm39) |
R138Q |
possibly damaging |
Het |
| Ascc2 |
C |
T |
11: 4,622,302 (GRCm39) |
A456V |
probably benign |
Het |
| Atg4c |
G |
A |
4: 99,112,719 (GRCm39) |
V289I |
probably benign |
Het |
| Bbs7 |
A |
T |
3: 36,657,022 (GRCm39) |
Y269N |
probably damaging |
Het |
| Bcas3 |
T |
A |
11: 85,386,676 (GRCm39) |
D370E |
probably damaging |
Het |
| Bicc1 |
T |
G |
10: 70,761,145 (GRCm39) |
E955A |
probably damaging |
Het |
| Bok |
T |
C |
1: 93,616,999 (GRCm39) |
F115S |
probably damaging |
Het |
| Caap1 |
A |
T |
4: 94,438,758 (GRCm39) |
|
probably null |
Het |
| Cacna2d3 |
T |
A |
14: 29,256,476 (GRCm39) |
M95L |
possibly damaging |
Het |
| Calcrl |
T |
A |
2: 84,200,435 (GRCm39) |
D115V |
probably benign |
Het |
| Car7 |
A |
T |
8: 105,270,170 (GRCm39) |
M57L |
probably benign |
Het |
| Casq1 |
G |
T |
1: 172,037,957 (GRCm39) |
|
probably benign |
Het |
| Cep290 |
A |
T |
10: 100,385,206 (GRCm39) |
D1894V |
possibly damaging |
Het |
| Clec4a2 |
T |
A |
6: 123,100,588 (GRCm39) |
N14K |
probably damaging |
Het |
| Col16a1 |
G |
T |
4: 129,984,290 (GRCm39) |
|
probably benign |
Het |
| Col5a1 |
T |
C |
2: 27,880,109 (GRCm39) |
|
probably benign |
Het |
| Col5a2 |
A |
T |
1: 45,417,642 (GRCm39) |
I1311N |
probably damaging |
Het |
| Col5a3 |
T |
C |
9: 20,694,004 (GRCm39) |
T1050A |
probably damaging |
Het |
| Colgalt2 |
A |
T |
1: 152,360,622 (GRCm39) |
I220F |
probably damaging |
Het |
| Cpb1 |
A |
T |
3: 20,329,792 (GRCm39) |
V8E |
unknown |
Het |
| Dchs1 |
C |
T |
7: 105,421,934 (GRCm39) |
R162H |
probably benign |
Het |
| Dhx37 |
A |
G |
5: 125,499,295 (GRCm39) |
Y638H |
probably benign |
Het |
| Dhx40 |
T |
G |
11: 86,662,088 (GRCm39) |
|
probably benign |
Het |
| Ehd2 |
T |
A |
7: 15,686,001 (GRCm39) |
Q357L |
probably benign |
Het |
| Ewsr1 |
T |
C |
11: 5,020,737 (GRCm39) |
|
probably benign |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Gid8 |
T |
A |
2: 180,355,004 (GRCm39) |
Y3* |
probably null |
Het |
| Gm10212 |
A |
C |
19: 11,548,174 (GRCm39) |
|
noncoding transcript |
Het |
| Grin3b |
T |
A |
10: 79,809,890 (GRCm39) |
N465K |
possibly damaging |
Het |
| H1f3 |
A |
T |
13: 23,739,924 (GRCm39) |
K221* |
probably null |
Het |
| Htr4 |
A |
T |
18: 62,561,225 (GRCm39) |
N162I |
probably damaging |
Het |
| Irag2 |
T |
C |
6: 145,110,938 (GRCm39) |
C248R |
probably damaging |
Het |
| Itga3 |
T |
C |
11: 94,952,796 (GRCm39) |
D325G |
probably benign |
Het |
| Itpr3 |
T |
G |
17: 27,330,903 (GRCm39) |
V1737G |
probably damaging |
Het |
| Kcnab2 |
C |
T |
4: 152,479,439 (GRCm39) |
V251I |
probably benign |
Het |
| Kcnn2 |
A |
T |
18: 45,693,215 (GRCm39) |
I264L |
probably benign |
Het |
| Klhl41 |
T |
C |
2: 69,501,600 (GRCm39) |
Y354H |
probably damaging |
Het |
| Klra6 |
T |
C |
6: 130,000,601 (GRCm39) |
I68V |
probably benign |
Het |
| Letm2 |
G |
T |
8: 26,082,574 (GRCm39) |
P178Q |
probably damaging |
Het |
| Lypd11 |
C |
A |
7: 24,422,170 (GRCm39) |
C193F |
possibly damaging |
Het |
| Mbtps1 |
A |
T |
8: 120,249,340 (GRCm39) |
|
probably benign |
Het |
| Mecom |
C |
T |
3: 30,035,121 (GRCm39) |
|
probably benign |
Het |
| Mrps5 |
T |
A |
2: 127,433,745 (GRCm39) |
S45T |
possibly damaging |
Het |
| Msra |
T |
A |
14: 64,678,210 (GRCm39) |
I29F |
possibly damaging |
Het |
| Mup5 |
T |
C |
4: 61,751,229 (GRCm39) |
|
probably null |
Het |
| Myo1a |
T |
C |
10: 127,555,111 (GRCm39) |
|
probably benign |
Het |
| Myrip |
C |
A |
9: 120,270,443 (GRCm39) |
N564K |
probably benign |
Het |
| Naa20 |
T |
A |
2: 145,757,592 (GRCm39) |
D148E |
probably damaging |
Het |
| Naga |
T |
G |
15: 82,220,956 (GRCm39) |
|
probably benign |
Het |
| Npc1 |
A |
G |
18: 12,346,503 (GRCm39) |
V231A |
probably benign |
Het |
| Nphs1 |
T |
C |
7: 30,166,940 (GRCm39) |
F716L |
probably benign |
Het |
| Or8s5 |
T |
C |
15: 98,238,810 (GRCm39) |
H20R |
probably benign |
Het |
| Parn |
G |
C |
16: 13,472,299 (GRCm39) |
|
probably benign |
Het |
| Polk |
A |
T |
13: 96,620,272 (GRCm39) |
C664S |
probably benign |
Het |
| Prkar2b |
A |
G |
12: 32,026,034 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,651,604 (GRCm39) |
E3747G |
probably damaging |
Het |
| Prmt5 |
A |
T |
14: 54,748,712 (GRCm39) |
M362K |
probably damaging |
Het |
| Prob1 |
T |
C |
18: 35,786,878 (GRCm39) |
T459A |
possibly damaging |
Het |
| Rttn |
C |
T |
18: 89,108,543 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,104,269 (GRCm39) |
M1664V |
probably damaging |
Het |
| Sez6 |
T |
A |
11: 77,844,639 (GRCm39) |
L154H |
probably damaging |
Het |
| Sh3tc1 |
A |
G |
5: 35,859,356 (GRCm39) |
|
probably benign |
Het |
| Shkbp1 |
C |
T |
7: 27,048,006 (GRCm39) |
G334D |
probably damaging |
Het |
| Spata31e5 |
G |
T |
1: 28,817,223 (GRCm39) |
Q270K |
probably damaging |
Het |
| Sptan1 |
T |
C |
2: 29,903,860 (GRCm39) |
|
probably benign |
Het |
| Ssc5d |
C |
T |
7: 4,940,470 (GRCm39) |
T861M |
probably damaging |
Het |
| Tbx5 |
A |
T |
5: 120,021,523 (GRCm39) |
M510L |
probably benign |
Het |
| Tdp1 |
A |
G |
12: 99,876,101 (GRCm39) |
T351A |
probably benign |
Het |
| Tmc8 |
T |
A |
11: 117,682,904 (GRCm39) |
|
probably benign |
Het |
| Tmco5 |
T |
A |
2: 116,720,588 (GRCm39) |
D205E |
probably benign |
Het |
| Tmprss2 |
T |
C |
16: 97,373,194 (GRCm39) |
|
probably benign |
Het |
| Top6bl |
A |
T |
19: 4,708,442 (GRCm39) |
I350N |
probably damaging |
Het |
| Tph1 |
T |
A |
7: 46,299,448 (GRCm39) |
K364N |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,934,001 (GRCm39) |
L648P |
probably damaging |
Het |
| Trmt6 |
C |
A |
2: 132,650,950 (GRCm39) |
|
probably benign |
Het |
| Ube2i |
A |
T |
17: 25,488,259 (GRCm39) |
|
probably benign |
Het |
| Vcan |
A |
C |
13: 89,852,779 (GRCm39) |
L727R |
possibly damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,491,689 (GRCm39) |
Y186C |
probably damaging |
Het |
| Wars1 |
C |
A |
12: 108,841,083 (GRCm39) |
D232Y |
probably damaging |
Het |
| Xrcc5 |
T |
C |
1: 72,378,104 (GRCm39) |
|
probably benign |
Het |
| Zbtb24 |
T |
A |
10: 41,340,532 (GRCm39) |
S543T |
probably damaging |
Het |
| Zfp91 |
A |
G |
19: 12,753,353 (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 |
|
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 |
|
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'- CTCCACAGGTGTCCTCAAAGTCTTC -3'
(R):5'- ACAGCCAATGCTGGGTCTGATTATG -3'
Sequencing Primer
(F):5'- GTGTCCTCAAAGTCTTCCCCTC -3'
(R):5'- AGGGACTGTGATCTTCAAACC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation