Incidental Mutation 'R7268:Slc8a3'
ID |
565098 |
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 |
045319-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7268 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
81244689-81379954 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 81361827 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 331
(D331Y)
|
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: D331Y
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 damaging
Transcript: ENSMUST00000085238
AA Change: D331Y
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000082334 Gene: ENSMUSG00000079055 AA Change: D331Y
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 damaging
Transcript: ENSMUST00000182208
AA Change: D331Y
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000138735 Gene: ENSMUSG00000079055 AA Change: D331Y
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 |
|
Meta Mutation Damage Score |
0.1638 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
99% (72/73) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl2 |
T |
C |
1: 156,461,509 (GRCm39) |
|
probably null |
Het |
Acsf3 |
A |
G |
8: 123,517,401 (GRCm39) |
Y399C |
probably benign |
Het |
Acsm5 |
A |
T |
7: 119,136,511 (GRCm39) |
T361S |
probably benign |
Het |
Agap1 |
T |
G |
1: 89,694,070 (GRCm39) |
I456S |
probably benign |
Het |
Ahnak2 |
A |
T |
12: 112,780,802 (GRCm38) |
V70E |
|
Het |
Alb |
T |
A |
5: 90,610,575 (GRCm39) |
S52T |
probably benign |
Het |
Ankle1 |
A |
G |
8: 71,860,189 (GRCm39) |
T256A |
probably damaging |
Het |
Armt1 |
G |
A |
10: 4,400,855 (GRCm39) |
V201M |
possibly damaging |
Het |
Atp2a2 |
T |
C |
5: 122,605,792 (GRCm39) |
T388A |
probably benign |
Het |
Atp6v0a2 |
T |
C |
5: 124,796,930 (GRCm39) |
L770P |
probably damaging |
Het |
B4galnt3 |
A |
T |
6: 120,192,003 (GRCm39) |
W578R |
possibly damaging |
Het |
Babam2 |
T |
C |
5: 31,859,197 (GRCm39) |
S2P |
probably damaging |
Het |
Baz2a |
A |
G |
10: 127,960,090 (GRCm39) |
H1459R |
possibly damaging |
Het |
Bbs7 |
C |
T |
3: 36,658,575 (GRCm39) |
R233Q |
probably benign |
Het |
Cacna2d1 |
G |
A |
5: 16,575,586 (GRCm39) |
G1076R |
probably damaging |
Het |
Camsap2 |
C |
T |
1: 136,201,483 (GRCm39) |
|
probably null |
Het |
Car10 |
A |
G |
11: 93,490,077 (GRCm39) |
N273D |
probably benign |
Het |
Ccdc66 |
T |
C |
14: 27,208,880 (GRCm39) |
D458G |
probably benign |
Het |
Ccdc7a |
T |
A |
8: 129,607,633 (GRCm39) |
H982L |
possibly damaging |
Het |
Col9a1 |
A |
G |
1: 24,246,479 (GRCm39) |
K386E |
possibly damaging |
Het |
Ctcfl |
A |
G |
2: 172,949,588 (GRCm39) |
I415T |
probably benign |
Het |
Cyp3a16 |
G |
C |
5: 145,404,280 (GRCm39) |
Y54* |
probably null |
Het |
Dact2 |
T |
C |
17: 14,416,797 (GRCm39) |
T468A |
probably benign |
Het |
Dgkb |
T |
A |
12: 38,197,554 (GRCm39) |
L355* |
probably null |
Het |
Dhx40 |
A |
T |
11: 86,697,442 (GRCm39) |
C42S |
possibly damaging |
Het |
Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
Dop1a |
G |
T |
9: 86,394,830 (GRCm39) |
E637* |
probably null |
Het |
Dpp4 |
G |
T |
2: 62,178,186 (GRCm39) |
P649T |
probably damaging |
Het |
Eri3 |
T |
A |
4: 117,506,580 (GRCm39) |
I303K |
probably benign |
Het |
Foxi1 |
A |
T |
11: 34,155,783 (GRCm39) |
Y282* |
probably null |
Het |
Gdi2 |
T |
A |
13: 3,606,363 (GRCm39) |
Y146* |
probably null |
Het |
Gns |
A |
G |
10: 121,212,557 (GRCm39) |
Y173C |
probably damaging |
Het |
Gpc1 |
C |
A |
1: 92,786,093 (GRCm39) |
P494Q |
possibly damaging |
Het |
Habp2 |
G |
T |
19: 56,302,518 (GRCm39) |
G274V |
probably damaging |
Het |
Hcfc2 |
T |
A |
10: 82,544,846 (GRCm39) |
Y159* |
probably null |
Het |
Hmcn2 |
T |
A |
2: 31,347,978 (GRCm39) |
S4875T |
possibly damaging |
Het |
Hmgcs2 |
A |
G |
3: 98,204,796 (GRCm39) |
N318S |
probably benign |
Het |
Lnpep |
A |
T |
17: 17,758,803 (GRCm39) |
M847K |
probably benign |
Het |
Mmp16 |
A |
C |
4: 18,093,366 (GRCm39) |
M374L |
probably benign |
Het |
Mrpl38 |
A |
G |
11: 116,029,396 (GRCm39) |
I40T |
possibly damaging |
Het |
Ncstn |
T |
C |
1: 171,908,830 (GRCm39) |
T46A |
possibly damaging |
Het |
Nlrp1a |
C |
T |
11: 71,015,068 (GRCm39) |
V61I |
probably benign |
Het |
Npas2 |
G |
T |
1: 39,326,658 (GRCm39) |
V48L |
probably damaging |
Het |
Or13p5 |
A |
G |
4: 118,592,605 (GRCm39) |
Y293C |
probably damaging |
Het |
Or52ac1 |
G |
A |
7: 104,246,284 (GRCm39) |
L35F |
probably benign |
Het |
Or6c6 |
C |
T |
10: 129,187,263 (GRCm39) |
T277I |
possibly damaging |
Het |
Pcyox1 |
A |
T |
6: 86,368,713 (GRCm39) |
N268K |
possibly damaging |
Het |
Pramel14 |
A |
T |
4: 143,720,090 (GRCm39) |
|
probably null |
Het |
Prr27 |
T |
C |
5: 87,991,135 (GRCm39) |
L249P |
probably damaging |
Het |
Psat1 |
A |
T |
19: 15,894,508 (GRCm39) |
V168D |
probably damaging |
Het |
Psg17 |
G |
T |
7: 18,548,586 (GRCm39) |
T395K |
possibly damaging |
Het |
Ptgis |
A |
G |
2: 167,048,676 (GRCm39) |
Y447H |
probably benign |
Het |
Rad50 |
T |
A |
11: 53,575,102 (GRCm39) |
N607I |
probably benign |
Het |
Rps6ka2 |
T |
C |
17: 7,562,662 (GRCm39) |
Y602H |
possibly damaging |
Het |
Senp6 |
G |
A |
9: 80,049,406 (GRCm39) |
R1010H |
probably damaging |
Het |
Slc9c1 |
G |
A |
16: 45,370,479 (GRCm39) |
S240N |
probably damaging |
Het |
Slf1 |
A |
G |
13: 77,214,826 (GRCm39) |
L620P |
probably damaging |
Het |
Snx19 |
A |
G |
9: 30,351,473 (GRCm39) |
E847G |
probably damaging |
Het |
Spaca6 |
T |
C |
17: 18,052,369 (GRCm39) |
V103A |
probably benign |
Het |
Tbk1 |
A |
G |
10: 121,388,404 (GRCm39) |
Y591H |
probably benign |
Het |
Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
Tfap2a |
G |
A |
13: 40,882,236 (GRCm39) |
T15I |
possibly damaging |
Het |
Tgm2 |
G |
A |
2: 157,962,188 (GRCm39) |
R544* |
probably null |
Het |
Tmem116 |
T |
A |
5: 121,605,918 (GRCm39) |
I90K |
|
Het |
Tmem30c |
A |
C |
16: 57,086,777 (GRCm39) |
L342R |
probably damaging |
Het |
Trpm6 |
C |
T |
19: 18,755,949 (GRCm39) |
T64I |
probably benign |
Het |
Ttll8 |
A |
G |
15: 88,819,159 (GRCm39) |
|
probably null |
Het |
Vcpip1 |
A |
G |
1: 9,816,307 (GRCm39) |
I692T |
probably damaging |
Het |
Vmn1r169 |
T |
G |
7: 23,276,853 (GRCm39) |
F82V |
probably benign |
Het |
Vmn1r178 |
G |
A |
7: 23,593,378 (GRCm39) |
C142Y |
probably benign |
Het |
Vmn2r16 |
T |
A |
5: 109,488,331 (GRCm39) |
Y401* |
probably null |
Het |
Wdr91 |
A |
G |
6: 34,869,375 (GRCm39) |
V383A |
probably benign |
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 |
R6999:Slc8a3
|
UTSW |
12 |
81,361,529 (GRCm39) |
missense |
probably benign |
0.06 |
R7195:Slc8a3
|
UTSW |
12 |
81,361,047 (GRCm39) |
missense |
possibly damaging |
0.95 |
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'- TATGCACCTCGCTCATGCTG -3'
(R):5'- ACTGCTCTTCTACAAATACATGCAC -3'
Sequencing Primer
(F):5'- CGCTCATGCTGGAGGTCTTC -3'
(R):5'- CACCGAGGAATTATCATTGAGAC -3'
|
Posted On |
2019-06-26 |