Incidental Mutation 'R5104:Slc8a3'
| ID |
392577 |
| 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 |
042692-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5104 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
81197915-81333180 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81214134 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 607
(E607G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064594]
[ENSMUST00000085238]
[ENSMUST00000182208]
[ENSMUST00000182366]
|
| AlphaFold |
S4R2P9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000064594
AA Change: E607G
PolyPhen 2
Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000063258
Gene: ENSMUSG00000079055
AA Change: E607G
| 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 null
Transcript: ENSMUST00000085238
AA Change: E607G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000082334
Gene: ENSMUSG00000079055
AA Change: E607G
| 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 null
Transcript: ENSMUST00000182208
|
| SMART Domains |
Protein: ENSMUSP00000138735
Gene: ENSMUSG00000079055
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182366
|
| SMART Domains |
Protein: ENSMUSP00000138803
Gene: ENSMUSG00000079055
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2LT9|A
|
1 |
52 |
2e-28 |
PDB |
|
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183102
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.0%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
A |
G |
10: 77,322,287 (GRCm38) |
F109L |
probably damaging |
Het |
| Ano4 |
T |
A |
10: 89,068,112 (GRCm38) |
Q241L |
possibly damaging |
Het |
| Apof |
C |
T |
10: 128,269,618 (GRCm38) |
R214* |
probably null |
Het |
| Armh4 |
A |
T |
14: 49,773,472 (GRCm38) |
D259E |
possibly damaging |
Het |
| Atl2 |
A |
T |
17: 79,852,617 (GRCm38) |
S47T |
probably benign |
Het |
| Azgp1 |
T |
G |
5: 137,987,553 (GRCm38) |
I146S |
probably damaging |
Het |
| Bicral |
G |
A |
17: 46,801,256 (GRCm38) |
T1006I |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 45,942,692 (GRCm38) |
N540I |
probably damaging |
Het |
| Ccdc77 |
T |
C |
6: 120,348,385 (GRCm38) |
|
probably null |
Het |
| Cxcr5 |
G |
T |
9: 44,513,319 (GRCm38) |
P347Q |
probably benign |
Het |
| Cyp4a14 |
T |
G |
4: 115,495,929 (GRCm38) |
H62P |
probably damaging |
Het |
| Dgki |
T |
C |
6: 37,149,574 (GRCm38) |
E157G |
possibly damaging |
Het |
| Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm38) |
|
probably null |
Het |
| Ehd3 |
A |
G |
17: 73,827,447 (GRCm38) |
N267S |
probably benign |
Het |
| Eno4 |
A |
G |
19: 58,945,541 (GRCm38) |
Y58C |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,278,988 (GRCm38) |
Y2982H |
possibly damaging |
Het |
| Frmd3 |
C |
A |
4: 74,145,078 (GRCm38) |
A214D |
probably damaging |
Het |
| Gabrg1 |
A |
C |
5: 70,774,432 (GRCm38) |
S323A |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,080,141 (GRCm38) |
I592V |
probably benign |
Het |
| Gje1 |
G |
A |
10: 14,716,718 (GRCm38) |
Q107* |
probably null |
Het |
| Gm29609 |
T |
C |
5: 31,154,294 (GRCm38) |
|
probably null |
Het |
| Gpam |
A |
T |
19: 55,093,986 (GRCm38) |
F78I |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,340,792 (GRCm38) |
R252G |
probably damaging |
Het |
| Hsd3b5 |
T |
A |
3: 98,619,276 (GRCm38) |
S285C |
probably damaging |
Het |
| Ighv1-74 |
T |
C |
12: 115,802,887 (GRCm38) |
K37E |
possibly damaging |
Het |
| Igkv8-34 |
T |
C |
6: 70,044,154 (GRCm38) |
D108G |
probably damaging |
Het |
| Il6st |
C |
G |
13: 112,488,648 (GRCm38) |
T266S |
probably benign |
Het |
| Kat8 |
G |
A |
7: 127,924,816 (GRCm38) |
E343K |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,615,478 (GRCm38) |
T307A |
probably benign |
Het |
| Kmt2b |
G |
A |
7: 30,569,840 (GRCm38) |
R2552C |
probably damaging |
Het |
| Krt4 |
T |
A |
15: 101,920,323 (GRCm38) |
R369W |
probably damaging |
Het |
| Larp4 |
T |
A |
15: 99,986,083 (GRCm38) |
M8K |
probably damaging |
Het |
| Lrit3 |
T |
A |
3: 129,788,391 (GRCm38) |
H528L |
possibly damaging |
Het |
| Mia3 |
A |
G |
1: 183,338,132 (GRCm38) |
L157S |
probably damaging |
Het |
| Naa16 |
A |
T |
14: 79,384,700 (GRCm38) |
Y32* |
probably null |
Het |
| Nbea |
A |
G |
3: 56,079,927 (GRCm38) |
Y381H |
probably damaging |
Het |
| Nelfcd |
T |
C |
2: 174,426,366 (GRCm38) |
V475A |
probably benign |
Het |
| Noxa1 |
T |
C |
2: 25,086,234 (GRCm38) |
I347M |
probably benign |
Het |
| Or11h4b |
T |
A |
14: 50,680,702 (GRCm38) |
K311* |
probably null |
Het |
| Or2ag17 |
A |
T |
7: 106,790,332 (GRCm38) |
F223Y |
possibly damaging |
Het |
| Or2n1c |
A |
C |
17: 38,208,317 (GRCm38) |
E24A |
possibly damaging |
Het |
| Or2y3 |
A |
T |
17: 38,082,283 (GRCm38) |
S232T |
possibly damaging |
Het |
| Pabpc1l |
T |
A |
2: 164,043,587 (GRCm38) |
I420K |
probably benign |
Het |
| Pi4ka |
C |
T |
16: 17,281,050 (GRCm38) |
C1990Y |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,585,191 (GRCm38) |
Q223L |
probably damaging |
Het |
| Pkm |
G |
T |
9: 59,668,681 (GRCm38) |
|
probably null |
Het |
| Proz |
A |
G |
8: 13,066,931 (GRCm38) |
D161G |
probably damaging |
Het |
| Ptprb |
C |
A |
10: 116,322,459 (GRCm38) |
H765Q |
probably benign |
Het |
| Relch |
T |
C |
1: 105,731,240 (GRCm38) |
V883A |
probably benign |
Het |
| Rffl |
A |
T |
11: 82,812,793 (GRCm38) |
C101* |
probably null |
Het |
| Rfx5 |
C |
T |
3: 94,955,140 (GRCm38) |
T36I |
probably benign |
Het |
| Rnase12 |
C |
A |
14: 51,056,904 (GRCm38) |
C106F |
probably damaging |
Het |
| Samd3 |
T |
C |
10: 26,263,788 (GRCm38) |
S273P |
possibly damaging |
Het |
| Simc1 |
A |
G |
13: 54,526,362 (GRCm38) |
D841G |
probably benign |
Het |
| Snrnp40 |
G |
T |
4: 130,365,165 (GRCm38) |
G122V |
possibly damaging |
Het |
| Snx25 |
T |
C |
8: 46,068,166 (GRCm38) |
*143W |
probably null |
Het |
| Taf15 |
A |
G |
11: 83,487,396 (GRCm38) |
Y154C |
probably damaging |
Het |
| Tgfb3 |
A |
G |
12: 86,058,982 (GRCm38) |
V333A |
possibly damaging |
Het |
| Tiam1 |
A |
G |
16: 89,818,041 (GRCm38) |
S2P |
probably benign |
Het |
| Tmed11 |
T |
C |
5: 108,777,276 (GRCm38) |
|
probably null |
Het |
| Tmtc4 |
T |
C |
14: 122,932,845 (GRCm38) |
D585G |
probably damaging |
Het |
| Trabd2b |
T |
C |
4: 114,406,917 (GRCm38) |
S34P |
probably benign |
Het |
| Trbv13-2 |
T |
C |
6: 41,121,811 (GRCm38) |
Y107H |
probably damaging |
Het |
| Tuba3a |
A |
G |
6: 125,282,384 (GRCm38) |
V115A |
probably benign |
Het |
| Tut1 |
A |
G |
19: 8,959,334 (GRCm38) |
E174G |
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,938,256 (GRCm38) |
M469K |
probably damaging |
Het |
| Vcan |
C |
T |
13: 89,657,472 (GRCm38) |
|
probably benign |
Het |
| Wapl |
C |
T |
14: 34,692,059 (GRCm38) |
Q293* |
probably null |
Het |
| Wdr24 |
A |
G |
17: 25,824,591 (GRCm38) |
H129R |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,267,867 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Slc8a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:Slc8a3
|
APN |
12 |
81,314,569 (GRCm38) |
missense |
probably benign |
|
|
IGL01315:Slc8a3
|
APN |
12 |
81,314,395 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01365:Slc8a3
|
APN |
12 |
81,315,376 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01610:Slc8a3
|
APN |
12 |
81,315,802 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02227:Slc8a3
|
APN |
12 |
81,315,683 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02299:Slc8a3
|
APN |
12 |
81,315,224 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02548:Slc8a3
|
APN |
12 |
81,204,156 (GRCm38) |
splice site |
probably benign |
|
|
IGL02646:Slc8a3
|
APN |
12 |
81,315,094 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03135:Slc8a3
|
APN |
12 |
81,202,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0050:Slc8a3
|
UTSW |
12 |
81,315,265 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0627:Slc8a3
|
UTSW |
12 |
81,314,842 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0648:Slc8a3
|
UTSW |
12 |
81,314,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1342:Slc8a3
|
UTSW |
12 |
81,316,016 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1437:Slc8a3
|
UTSW |
12 |
81,315,986 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1470:Slc8a3
|
UTSW |
12 |
81,199,710 (GRCm38) |
missense |
probably benign |
|
|
R1470:Slc8a3
|
UTSW |
12 |
81,199,710 (GRCm38) |
missense |
probably benign |
|
|
R1557:Slc8a3
|
UTSW |
12 |
81,315,557 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1563:Slc8a3
|
UTSW |
12 |
81,205,007 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R1918:Slc8a3
|
UTSW |
12 |
81,314,844 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1930:Slc8a3
|
UTSW |
12 |
81,314,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1931:Slc8a3
|
UTSW |
12 |
81,314,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2232:Slc8a3
|
UTSW |
12 |
81,315,220 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2680:Slc8a3
|
UTSW |
12 |
81,202,339 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2941:Slc8a3
|
UTSW |
12 |
81,315,179 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3157:Slc8a3
|
UTSW |
12 |
81,314,992 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3159:Slc8a3
|
UTSW |
12 |
81,314,992 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3751:Slc8a3
|
UTSW |
12 |
81,204,138 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3859:Slc8a3
|
UTSW |
12 |
81,314,872 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4240:Slc8a3
|
UTSW |
12 |
81,315,176 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4527:Slc8a3
|
UTSW |
12 |
81,315,853 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4547:Slc8a3
|
UTSW |
12 |
81,314,851 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R4951:Slc8a3
|
UTSW |
12 |
81,315,986 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4951:Slc8a3
|
UTSW |
12 |
81,314,699 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5022:Slc8a3
|
UTSW |
12 |
81,199,558 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5049:Slc8a3
|
UTSW |
12 |
81,214,132 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5057:Slc8a3
|
UTSW |
12 |
81,199,558 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5122:Slc8a3
|
UTSW |
12 |
81,314,258 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5183:Slc8a3
|
UTSW |
12 |
81,314,491 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R5629:Slc8a3
|
UTSW |
12 |
81,199,631 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6062:Slc8a3
|
UTSW |
12 |
81,314,350 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6218:Slc8a3
|
UTSW |
12 |
81,199,567 (GRCm38) |
missense |
probably benign |
|
|
R6279:Slc8a3
|
UTSW |
12 |
81,314,978 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6300:Slc8a3
|
UTSW |
12 |
81,314,978 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6416:Slc8a3
|
UTSW |
12 |
81,315,627 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6790:Slc8a3
|
UTSW |
12 |
81,314,432 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6999:Slc8a3
|
UTSW |
12 |
81,314,755 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7195:Slc8a3
|
UTSW |
12 |
81,314,273 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7268:Slc8a3
|
UTSW |
12 |
81,315,053 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7288:Slc8a3
|
UTSW |
12 |
81,216,824 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R7383:Slc8a3
|
UTSW |
12 |
81,315,805 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7392:Slc8a3
|
UTSW |
12 |
81,314,803 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7394:Slc8a3
|
UTSW |
12 |
81,214,058 (GRCm38) |
splice site |
probably null |
|
|
R7549:Slc8a3
|
UTSW |
12 |
81,314,770 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7657:Slc8a3
|
UTSW |
12 |
81,314,384 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7699:Slc8a3
|
UTSW |
12 |
81,314,473 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7759:Slc8a3
|
UTSW |
12 |
81,314,551 (GRCm38) |
missense |
probably benign |
|
|
R7960:Slc8a3
|
UTSW |
12 |
81,216,732 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7985:Slc8a3
|
UTSW |
12 |
81,314,993 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8059:Slc8a3
|
UTSW |
12 |
81,202,258 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8192:Slc8a3
|
UTSW |
12 |
81,199,681 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8397:Slc8a3
|
UTSW |
12 |
81,199,768 (GRCm38) |
missense |
probably benign |
0.45 |
|
R8413:Slc8a3
|
UTSW |
12 |
81,314,678 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8681:Slc8a3
|
UTSW |
12 |
81,315,140 (GRCm38) |
missense |
probably benign |
|
|
R9060:Slc8a3
|
UTSW |
12 |
81,214,078 (GRCm38) |
missense |
probably benign |
0.45 |
|
R9061:Slc8a3
|
UTSW |
12 |
81,216,766 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9267:Slc8a3
|
UTSW |
12 |
81,314,434 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R9416:Slc8a3
|
UTSW |
12 |
81,315,064 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9519:Slc8a3
|
UTSW |
12 |
81,315,552 (GRCm38) |
missense |
probably benign |
0.30 |
|
R9531:Slc8a3
|
UTSW |
12 |
81,315,223 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0026:Slc8a3
|
UTSW |
12 |
81,315,287 (GRCm38) |
missense |
probably benign |
0.22 |
|
X0028:Slc8a3
|
UTSW |
12 |
81,314,943 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Slc8a3
|
UTSW |
12 |
81,315,876 (GRCm38) |
missense |
probably benign |
0.13 |
|
Z1177:Slc8a3
|
UTSW |
12 |
81,314,700 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGTCAACAGGAGATGGAGATG -3'
(R):5'- GTCCTATCTAAGGCCACCATGG -3'
Sequencing Primer
(F):5'- GAGGGCAAAAATAGATCACTTTTTC -3'
(R):5'- GCAGGGCAGGGCTTCATATG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation