Incidental Mutation 'R9416:Slc8a3'
| ID |
712062 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9416 (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 A
at 81361838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 327
(H327L)
|
| 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: H327L
| 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: H327L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
AA Change: H327L
| 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: H327L
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
AA Change: H327L
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
C |
T |
4: 86,342,477 (GRCm39) |
T1672I |
probably damaging |
Het |
| Ahnak |
T |
G |
19: 8,990,266 (GRCm39) |
M3850R |
unknown |
Het |
| Cacna1s |
T |
A |
1: 136,022,689 (GRCm39) |
L874Q |
possibly damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,274,479 (GRCm39) |
D622V |
probably benign |
Het |
| Ccdc150 |
T |
C |
1: 54,317,990 (GRCm39) |
S310P |
probably damaging |
Het |
| Cecr2 |
A |
T |
6: 120,735,538 (GRCm39) |
N148Y |
|
Het |
| Celsr2 |
T |
C |
3: 108,322,084 (GRCm39) |
T243A |
probably damaging |
Het |
| Coro1b |
C |
T |
19: 4,201,473 (GRCm39) |
T279I |
probably damaging |
Het |
| Cyp51 |
A |
G |
5: 4,150,198 (GRCm39) |
I175T |
probably damaging |
Het |
| Dnajc21 |
T |
C |
15: 10,462,048 (GRCm39) |
I118V |
possibly damaging |
Het |
| Dtna |
T |
C |
18: 23,780,112 (GRCm39) |
|
probably null |
Het |
| Etl4 |
A |
G |
2: 20,748,784 (GRCm39) |
K374R |
probably benign |
Het |
| Fance |
G |
A |
17: 28,537,327 (GRCm39) |
C53Y |
probably damaging |
Het |
| Gm14496 |
G |
T |
2: 181,640,647 (GRCm39) |
C538F |
probably damaging |
Het |
| Gon4l |
T |
A |
3: 88,803,538 (GRCm39) |
V1383D |
probably benign |
Het |
| Gpr6 |
C |
A |
10: 40,946,944 (GRCm39) |
D213Y |
possibly damaging |
Het |
| Has2 |
A |
G |
15: 56,531,684 (GRCm39) |
Y344H |
probably damaging |
Het |
| Kcnh2 |
A |
T |
5: 24,537,964 (GRCm39) |
M133K |
probably benign |
Het |
| Kdm5a |
A |
G |
6: 120,365,056 (GRCm39) |
H152R |
probably damaging |
Het |
| Klhl33 |
C |
T |
14: 51,130,225 (GRCm39) |
R163H |
probably damaging |
Het |
| Lax1 |
T |
A |
1: 133,611,752 (GRCm39) |
Q61L |
probably benign |
Het |
| Lct |
T |
C |
1: 128,228,329 (GRCm39) |
T1055A |
possibly damaging |
Het |
| Lrrc8c |
A |
G |
5: 105,756,163 (GRCm39) |
Y646C |
possibly damaging |
Het |
| Mtarc1 |
T |
C |
1: 184,527,633 (GRCm39) |
T274A |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,902,577 (GRCm39) |
V51A |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,137,215 (GRCm39) |
S250P |
|
Het |
| Nim1k |
A |
T |
13: 120,189,362 (GRCm39) |
C16S |
probably benign |
Het |
| Oosp1 |
T |
C |
19: 11,664,769 (GRCm39) |
T96A |
probably damaging |
Het |
| Or1e1c |
T |
C |
11: 73,265,790 (GRCm39) |
S75P |
probably damaging |
Het |
| Or2q1 |
G |
T |
6: 42,795,197 (GRCm39) |
R264L |
probably benign |
Het |
| Or8k17 |
T |
A |
2: 86,066,744 (GRCm39) |
Q138L |
probably damaging |
Het |
| Pik3c2b |
C |
T |
1: 133,005,187 (GRCm39) |
R563C |
probably damaging |
Het |
| Ppp1r18 |
CGAGGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGAGGA |
17: 36,184,743 (GRCm39) |
|
probably benign |
Het |
| Prps1l1 |
T |
A |
12: 35,035,089 (GRCm39) |
M68K |
|
Het |
| Prr11 |
A |
T |
11: 86,992,254 (GRCm39) |
L207* |
probably null |
Het |
| Psme3 |
T |
C |
11: 101,211,559 (GRCm39) |
Y202H |
probably damaging |
Het |
| Ptma |
A |
G |
1: 86,455,694 (GRCm39) |
S57G |
unknown |
Het |
| Rab24 |
A |
G |
13: 55,468,049 (GRCm39) |
V33A |
unknown |
Het |
| Reep6 |
A |
G |
10: 80,166,091 (GRCm39) |
T83A |
probably benign |
Het |
| Semp2l2b |
C |
T |
10: 21,943,752 (GRCm39) |
R76Q |
probably benign |
Het |
| Shroom4 |
GCAACAACAACAACAACAACAACAACA |
GCAACAACAACAACAACAACAACA |
X: 6,536,131 (GRCm39) |
|
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,925,390 (GRCm39) |
K357R |
probably benign |
Het |
| Slc2a4 |
T |
A |
11: 69,836,728 (GRCm39) |
H167L |
probably benign |
Het |
| Slf1 |
G |
A |
13: 77,194,656 (GRCm39) |
L890F |
|
Het |
| Smchd1 |
A |
C |
17: 71,701,791 (GRCm39) |
I1067R |
probably benign |
Het |
| Stk33 |
T |
A |
7: 108,940,689 (GRCm39) |
N7I |
probably benign |
Het |
| Tex47 |
T |
C |
5: 7,355,194 (GRCm39) |
M125T |
possibly damaging |
Het |
| Thada |
A |
T |
17: 84,766,292 (GRCm39) |
L38* |
probably null |
Het |
| Thbs1 |
A |
G |
2: 117,947,983 (GRCm39) |
D381G |
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,203,603 (GRCm39) |
V1009D |
|
Het |
| Usp17la |
A |
T |
7: 104,508,531 (GRCm39) |
|
probably benign |
Het |
| Zfp438 |
A |
T |
18: 5,214,054 (GRCm39) |
N301K |
probably benign |
Het |
| Zfp606 |
T |
A |
7: 12,227,907 (GRCm39) |
I676N |
possibly 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 |
|
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 |
|
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 |
|
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'- CGACTGCTCTTCTACAAATACATG -3'
Sequencing Primer
(F):5'- CGCTCATGCTGGAGGTCTTC -3'
(R):5'- GCACAGATAAACACCGAGGAATTATC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation