Incidental Mutation 'R6999:Slc8a3'
ID |
544411 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc8a3
|
Ensembl Gene |
ENSMUSG00000079055 |
Gene Name |
solute carrier family 8 (sodium/calcium exchanger), member 3 |
Synonyms |
Ncx3 |
MMRRC Submission |
045104-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6999 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
81244689-81379954 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 81361529 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 430
(Y430C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138735
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064594]
[ENSMUST00000085238]
[ENSMUST00000182208]
|
AlphaFold |
S4R2P9 |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000063258 Gene: ENSMUSG00000079055 AA Change: Y430C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
79 |
250 |
1.3e-36 |
PFAM |
Pfam:Na_Ca_ex_C
|
253 |
379 |
4.6e-57 |
PFAM |
Calx_beta
|
385 |
485 |
3.25e-42 |
SMART |
Calx_beta
|
519 |
619 |
1.04e-40 |
SMART |
low complexity region
|
712 |
723 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
754 |
919 |
2e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000085238
AA Change: Y430C
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000082334 Gene: ENSMUSG00000079055 AA Change: Y430C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
79 |
250 |
1.3e-36 |
PFAM |
Pfam:Na_Ca_ex_C
|
253 |
379 |
4.6e-57 |
PFAM |
Calx_beta
|
385 |
485 |
3.25e-42 |
SMART |
Calx_beta
|
519 |
619 |
1.54e-43 |
SMART |
low complexity region
|
705 |
716 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
747 |
912 |
1.9e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182208
AA Change: Y430C
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000138735 Gene: ENSMUSG00000079055 AA Change: Y430C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
89 |
248 |
8.1e-38 |
PFAM |
Calx_beta
|
385 |
485 |
3.25e-42 |
SMART |
Calx_beta
|
519 |
619 |
1.04e-40 |
SMART |
low complexity region
|
712 |
723 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
764 |
917 |
9.1e-27 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq, Aug 2013] PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
A |
1: 71,356,321 (GRCm39) |
Q629* |
probably null |
Het |
Acss3 |
C |
A |
10: 106,889,362 (GRCm39) |
G153C |
probably damaging |
Het |
Alpk2 |
A |
G |
18: 65,437,584 (GRCm39) |
S1270P |
probably damaging |
Het |
Ankrd10 |
A |
T |
8: 11,669,106 (GRCm39) |
L215Q |
probably damaging |
Het |
Ankrd6 |
A |
G |
4: 32,823,459 (GRCm39) |
S188P |
probably benign |
Het |
Brinp2 |
A |
G |
1: 158,078,875 (GRCm39) |
M316T |
probably benign |
Het |
Bsn |
A |
G |
9: 107,990,632 (GRCm39) |
S1707P |
probably benign |
Het |
C2cd4b |
C |
T |
9: 67,667,571 (GRCm39) |
A189V |
probably benign |
Het |
Camk2b |
C |
T |
11: 5,922,321 (GRCm39) |
R556H |
probably damaging |
Het |
Cfap126 |
A |
G |
1: 170,953,733 (GRCm39) |
D101G |
possibly damaging |
Het |
Chd5 |
A |
T |
4: 152,458,891 (GRCm39) |
I1085F |
probably damaging |
Het |
Chp2 |
A |
G |
7: 121,821,092 (GRCm39) |
E151G |
probably damaging |
Het |
Chrd |
A |
G |
16: 20,554,402 (GRCm39) |
T370A |
probably benign |
Het |
Chrnb2 |
C |
T |
3: 89,668,622 (GRCm39) |
R231H |
possibly damaging |
Het |
Crisp4 |
T |
A |
1: 18,207,259 (GRCm39) |
I10F |
possibly damaging |
Het |
Csnka2ip |
T |
A |
16: 64,298,933 (GRCm39) |
H477L |
unknown |
Het |
Ctu1 |
T |
A |
7: 43,324,662 (GRCm39) |
F34I |
probably damaging |
Het |
Dctn1 |
T |
A |
6: 83,168,263 (GRCm39) |
S407T |
possibly damaging |
Het |
Ech1 |
T |
C |
7: 28,529,689 (GRCm39) |
F191L |
probably benign |
Het |
Enpp3 |
T |
C |
10: 24,684,064 (GRCm39) |
D60G |
probably damaging |
Het |
Epha6 |
T |
C |
16: 60,245,533 (GRCm39) |
Y222C |
possibly damaging |
Het |
Eppk1 |
A |
T |
15: 75,993,423 (GRCm39) |
W1153R |
probably benign |
Het |
Fbxo4 |
C |
T |
15: 4,007,437 (GRCm39) |
D76N |
probably damaging |
Het |
Fndc7 |
G |
A |
3: 108,783,964 (GRCm39) |
A215V |
probably benign |
Het |
Gemin5 |
C |
T |
11: 58,015,947 (GRCm39) |
R1352Q |
probably benign |
Het |
Gm9639 |
T |
C |
10: 77,630,525 (GRCm39) |
|
probably benign |
Het |
Gm973 |
C |
A |
1: 59,673,251 (GRCm39) |
Q160K |
unknown |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Grid2 |
A |
T |
6: 64,053,893 (GRCm39) |
Q364L |
possibly damaging |
Het |
Kcnn2 |
T |
G |
18: 45,725,444 (GRCm39) |
S313R |
probably damaging |
Het |
Kera |
T |
C |
10: 97,444,814 (GRCm39) |
Y58H |
probably damaging |
Het |
Meiosin |
A |
G |
7: 18,836,300 (GRCm39) |
|
probably benign |
Het |
Mtfr2 |
T |
C |
10: 20,229,862 (GRCm39) |
L105P |
probably benign |
Het |
Myom2 |
A |
G |
8: 15,134,531 (GRCm39) |
T445A |
probably benign |
Het |
Or2o1 |
A |
G |
11: 49,051,239 (GRCm39) |
R133G |
possibly damaging |
Het |
Or8b1c |
T |
A |
9: 38,384,535 (GRCm39) |
L164Q |
probably damaging |
Het |
Pcdha12 |
T |
C |
18: 37,153,329 (GRCm39) |
L16P |
probably benign |
Het |
Pcdhb10 |
T |
C |
18: 37,546,171 (GRCm39) |
Y416H |
probably damaging |
Het |
Pde8b |
T |
C |
13: 95,223,342 (GRCm39) |
Y304C |
possibly damaging |
Het |
Pkd1 |
T |
C |
17: 24,797,475 (GRCm39) |
I2605T |
possibly damaging |
Het |
Pnn |
T |
C |
12: 59,117,085 (GRCm39) |
|
probably null |
Het |
Ppa1 |
G |
A |
10: 61,496,796 (GRCm39) |
G95S |
probably damaging |
Het |
Rapgef4 |
G |
T |
2: 72,069,469 (GRCm39) |
A730S |
probably damaging |
Het |
Scap |
A |
G |
9: 110,213,715 (GRCm39) |
Y1226C |
probably damaging |
Het |
Scn2a |
A |
T |
2: 65,512,453 (GRCm39) |
T197S |
probably benign |
Het |
Slc2a6 |
GCTTCC |
GC |
2: 26,916,047 (GRCm39) |
|
probably null |
Het |
Tead3 |
T |
C |
17: 28,560,506 (GRCm39) |
T33A |
probably benign |
Het |
Tep1 |
T |
A |
14: 51,088,162 (GRCm39) |
I792F |
possibly damaging |
Het |
Trpm2 |
A |
T |
10: 77,771,725 (GRCm39) |
I638N |
probably damaging |
Het |
Tuba1c |
A |
G |
15: 98,935,193 (GRCm39) |
D218G |
probably benign |
Het |
Tubgcp4 |
T |
A |
2: 121,022,778 (GRCm39) |
W495R |
probably damaging |
Het |
Tut1 |
T |
C |
19: 8,943,382 (GRCm39) |
L823P |
probably damaging |
Het |
Ube2q2l |
T |
C |
6: 136,378,272 (GRCm39) |
N186S |
probably benign |
Het |
Umodl1 |
C |
T |
17: 31,218,097 (GRCm39) |
A1228V |
probably damaging |
Het |
Vmn1r235 |
T |
A |
17: 21,482,127 (GRCm39) |
F151I |
probably benign |
Het |
Vmn2r45 |
T |
A |
7: 8,486,219 (GRCm39) |
K356N |
probably benign |
Het |
Zfp318 |
T |
A |
17: 46,710,969 (GRCm39) |
N897K |
probably damaging |
Het |
|
Other mutations in Slc8a3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00164:Slc8a3
|
APN |
12 |
81,361,343 (GRCm39) |
missense |
probably benign |
|
IGL01315:Slc8a3
|
APN |
12 |
81,361,169 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01365:Slc8a3
|
APN |
12 |
81,362,150 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01610:Slc8a3
|
APN |
12 |
81,362,576 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02227:Slc8a3
|
APN |
12 |
81,362,457 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02299:Slc8a3
|
APN |
12 |
81,361,998 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02548:Slc8a3
|
APN |
12 |
81,250,930 (GRCm39) |
splice site |
probably benign |
|
IGL02646:Slc8a3
|
APN |
12 |
81,361,868 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03135:Slc8a3
|
APN |
12 |
81,249,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R0050:Slc8a3
|
UTSW |
12 |
81,362,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R0627:Slc8a3
|
UTSW |
12 |
81,361,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R0648:Slc8a3
|
UTSW |
12 |
81,361,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R1342:Slc8a3
|
UTSW |
12 |
81,362,790 (GRCm39) |
missense |
probably damaging |
0.99 |
R1437:Slc8a3
|
UTSW |
12 |
81,362,760 (GRCm39) |
missense |
probably damaging |
0.99 |
R1470:Slc8a3
|
UTSW |
12 |
81,246,484 (GRCm39) |
missense |
probably benign |
|
R1470:Slc8a3
|
UTSW |
12 |
81,246,484 (GRCm39) |
missense |
probably benign |
|
R1557:Slc8a3
|
UTSW |
12 |
81,362,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R1563:Slc8a3
|
UTSW |
12 |
81,251,781 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1918:Slc8a3
|
UTSW |
12 |
81,361,618 (GRCm39) |
missense |
probably damaging |
0.99 |
R1930:Slc8a3
|
UTSW |
12 |
81,361,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R1931:Slc8a3
|
UTSW |
12 |
81,361,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R2232:Slc8a3
|
UTSW |
12 |
81,361,994 (GRCm39) |
missense |
probably damaging |
0.99 |
R2680:Slc8a3
|
UTSW |
12 |
81,249,113 (GRCm39) |
missense |
probably damaging |
0.99 |
R2941:Slc8a3
|
UTSW |
12 |
81,361,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R3157:Slc8a3
|
UTSW |
12 |
81,361,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R3159:Slc8a3
|
UTSW |
12 |
81,361,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R3751:Slc8a3
|
UTSW |
12 |
81,250,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R3859:Slc8a3
|
UTSW |
12 |
81,361,646 (GRCm39) |
missense |
probably damaging |
0.99 |
R4240:Slc8a3
|
UTSW |
12 |
81,361,950 (GRCm39) |
missense |
probably damaging |
0.99 |
R4527:Slc8a3
|
UTSW |
12 |
81,362,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R4547:Slc8a3
|
UTSW |
12 |
81,361,625 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4951:Slc8a3
|
UTSW |
12 |
81,362,760 (GRCm39) |
missense |
probably damaging |
0.99 |
R4951:Slc8a3
|
UTSW |
12 |
81,361,473 (GRCm39) |
missense |
probably benign |
0.31 |
R5022:Slc8a3
|
UTSW |
12 |
81,246,332 (GRCm39) |
missense |
probably damaging |
0.96 |
R5049:Slc8a3
|
UTSW |
12 |
81,260,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R5057:Slc8a3
|
UTSW |
12 |
81,246,332 (GRCm39) |
missense |
probably damaging |
0.96 |
R5104:Slc8a3
|
UTSW |
12 |
81,260,908 (GRCm39) |
missense |
probably null |
0.34 |
R5122:Slc8a3
|
UTSW |
12 |
81,361,032 (GRCm39) |
critical splice donor site |
probably null |
|
R5183:Slc8a3
|
UTSW |
12 |
81,361,265 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5629:Slc8a3
|
UTSW |
12 |
81,246,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R6062:Slc8a3
|
UTSW |
12 |
81,361,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R6218:Slc8a3
|
UTSW |
12 |
81,246,341 (GRCm39) |
missense |
probably benign |
|
R6279:Slc8a3
|
UTSW |
12 |
81,361,752 (GRCm39) |
missense |
probably damaging |
0.99 |
R6300:Slc8a3
|
UTSW |
12 |
81,361,752 (GRCm39) |
missense |
probably damaging |
0.99 |
R6416:Slc8a3
|
UTSW |
12 |
81,362,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R6790:Slc8a3
|
UTSW |
12 |
81,361,206 (GRCm39) |
missense |
probably benign |
0.00 |
R7195:Slc8a3
|
UTSW |
12 |
81,361,047 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7268:Slc8a3
|
UTSW |
12 |
81,361,827 (GRCm39) |
missense |
probably damaging |
0.98 |
R7288:Slc8a3
|
UTSW |
12 |
81,263,598 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7383:Slc8a3
|
UTSW |
12 |
81,362,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R7392:Slc8a3
|
UTSW |
12 |
81,361,577 (GRCm39) |
missense |
probably damaging |
0.99 |
R7394:Slc8a3
|
UTSW |
12 |
81,260,832 (GRCm39) |
splice site |
probably null |
|
R7549:Slc8a3
|
UTSW |
12 |
81,361,544 (GRCm39) |
missense |
probably benign |
0.06 |
R7657:Slc8a3
|
UTSW |
12 |
81,361,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R7699:Slc8a3
|
UTSW |
12 |
81,361,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R7759:Slc8a3
|
UTSW |
12 |
81,361,325 (GRCm39) |
missense |
probably benign |
|
R7960:Slc8a3
|
UTSW |
12 |
81,263,506 (GRCm39) |
missense |
probably benign |
0.00 |
R7985:Slc8a3
|
UTSW |
12 |
81,361,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R8059:Slc8a3
|
UTSW |
12 |
81,249,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R8192:Slc8a3
|
UTSW |
12 |
81,246,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R8397:Slc8a3
|
UTSW |
12 |
81,246,542 (GRCm39) |
missense |
probably benign |
0.45 |
R8413:Slc8a3
|
UTSW |
12 |
81,361,452 (GRCm39) |
missense |
probably damaging |
0.97 |
R8681:Slc8a3
|
UTSW |
12 |
81,361,914 (GRCm39) |
missense |
probably benign |
|
R9060:Slc8a3
|
UTSW |
12 |
81,260,852 (GRCm39) |
missense |
probably benign |
0.45 |
R9061:Slc8a3
|
UTSW |
12 |
81,263,540 (GRCm39) |
missense |
probably damaging |
0.99 |
R9267:Slc8a3
|
UTSW |
12 |
81,361,208 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9416:Slc8a3
|
UTSW |
12 |
81,361,838 (GRCm39) |
missense |
probably benign |
0.06 |
R9519:Slc8a3
|
UTSW |
12 |
81,362,326 (GRCm39) |
missense |
probably benign |
0.30 |
R9531:Slc8a3
|
UTSW |
12 |
81,361,997 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Slc8a3
|
UTSW |
12 |
81,362,061 (GRCm39) |
missense |
probably benign |
0.22 |
X0028:Slc8a3
|
UTSW |
12 |
81,361,717 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Slc8a3
|
UTSW |
12 |
81,362,650 (GRCm39) |
missense |
probably benign |
0.13 |
Z1177:Slc8a3
|
UTSW |
12 |
81,361,474 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTCAGCCTCACAAAGAAG -3'
(R):5'- GCTTTCTACCGCATCCAAGC -3'
Sequencing Primer
(F):5'- GCTCAGCCTCACAAAGAAGTGTTC -3'
(R):5'- CTGGTGCGGGCAATATACTTAAG -3'
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Posted On |
2019-05-13 |