Incidental Mutation 'IGL03380:Slc8b1'
| ID |
420653 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc8b1
|
| Ensembl Gene |
ENSMUSG00000032754 |
| Gene Name |
solute carrier family 8 (sodium/lithium/calcium exchanger), member B1 |
| Synonyms |
NCLX, NCKX6, Slc24a6 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03380
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
120649233-120672089 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120657800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 88
(F88L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068326]
[ENSMUST00000076051]
[ENSMUST00000111889]
[ENSMUST00000111890]
[ENSMUST00000140329]
|
| AlphaFold |
Q925Q3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068326
AA Change: F88L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000064714
Gene: ENSMUSG00000032754
AA Change: F88L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
103 |
246 |
5.7e-25 |
PFAM |
|
low complexity region
|
262 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
351 |
N/A |
INTRINSIC |
|
transmembrane domain
|
360 |
382 |
N/A |
INTRINSIC |
|
transmembrane domain
|
387 |
409 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
421 |
574 |
1.8e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076051
AA Change: F88L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000075428
Gene: ENSMUSG00000032754
AA Change: F88L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
113 |
244 |
9.2e-19 |
PFAM |
|
low complexity region
|
262 |
275 |
N/A |
INTRINSIC |
|
transmembrane domain
|
323 |
345 |
N/A |
INTRINSIC |
|
transmembrane domain
|
360 |
382 |
N/A |
INTRINSIC |
|
transmembrane domain
|
387 |
409 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
431 |
477 |
2.3e-8 |
PFAM |
|
low complexity region
|
507 |
519 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111889
AA Change: F88L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107520
Gene: ENSMUSG00000032754
AA Change: F88L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
113 |
232 |
2.5e-16 |
PFAM |
|
low complexity region
|
281 |
295 |
N/A |
INTRINSIC |
|
transmembrane domain
|
304 |
326 |
N/A |
INTRINSIC |
|
transmembrane domain
|
331 |
353 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
375 |
516 |
1.7e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111890
AA Change: F88L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107521
Gene: ENSMUSG00000032754
AA Change: F88L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
116 |
227 |
2.8e-12 |
PFAM |
|
low complexity region
|
245 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
334 |
N/A |
INTRINSIC |
|
transmembrane domain
|
343 |
365 |
N/A |
INTRINSIC |
|
transmembrane domain
|
370 |
392 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
414 |
555 |
3.2e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123326
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140329
AA Change: F88L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117260
Gene: ENSMUSG00000032754
AA Change: F88L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC24A6 belongs to a family of potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport of 4 sodium ions for 1 calcium ion and 1 potassium ion (Cai and Lytton, 2004 [PubMed 14625281]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
All alleles(22) : Targeted(3) Gene trapped(19)
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,248,574 (GRCm39) |
N2774D |
probably benign |
Het |
| Aldh1a2 |
T |
G |
9: 71,162,399 (GRCm39) |
Y149* |
probably null |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,343,344 (GRCm39) |
D542G |
probably damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,889,529 (GRCm39) |
E582G |
probably benign |
Het |
| C4b |
A |
T |
17: 34,959,260 (GRCm39) |
V438D |
probably benign |
Het |
| Caps2 |
A |
G |
10: 112,036,601 (GRCm39) |
E345G |
probably benign |
Het |
| Cdk19 |
C |
T |
10: 40,352,908 (GRCm39) |
P308L |
probably benign |
Het |
| Drc3 |
A |
G |
11: 60,268,731 (GRCm39) |
E307G |
probably benign |
Het |
| Dst |
G |
A |
1: 34,296,881 (GRCm39) |
A1041T |
probably damaging |
Het |
| Elp2 |
T |
C |
18: 24,755,537 (GRCm39) |
V428A |
probably benign |
Het |
| Eml5 |
G |
T |
12: 98,840,906 (GRCm39) |
|
probably benign |
Het |
| Fam120b |
G |
A |
17: 15,623,396 (GRCm39) |
|
probably benign |
Het |
| Fpr-rs6 |
G |
A |
17: 20,403,245 (GRCm39) |
L39F |
possibly damaging |
Het |
| Fsd1 |
T |
C |
17: 56,302,456 (GRCm39) |
I300T |
probably benign |
Het |
| Hsd17b6 |
T |
C |
10: 127,830,207 (GRCm39) |
|
probably null |
Het |
| Hspa1a |
T |
C |
17: 35,189,253 (GRCm39) |
K550R |
probably benign |
Het |
| Krba1 |
A |
G |
6: 48,380,387 (GRCm39) |
H37R |
possibly damaging |
Het |
| Lama2 |
T |
C |
10: 26,926,261 (GRCm39) |
D2117G |
probably damaging |
Het |
| Map4k2 |
T |
C |
19: 6,394,620 (GRCm39) |
F332S |
possibly damaging |
Het |
| Mindy1 |
T |
C |
3: 95,198,329 (GRCm39) |
|
probably benign |
Het |
| Nhsl1 |
T |
G |
10: 18,399,627 (GRCm39) |
Y284* |
probably null |
Het |
| Or5b109 |
T |
A |
19: 13,212,365 (GRCm39) |
F250L |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,270,894 (GRCm39) |
T3220S |
probably damaging |
Het |
| Pramel7 |
A |
T |
2: 87,321,716 (GRCm39) |
D106E |
probably benign |
Het |
| Psme3 |
T |
C |
11: 101,210,852 (GRCm39) |
|
probably null |
Het |
| Rsph1 |
T |
C |
17: 31,496,210 (GRCm39) |
E7G |
unknown |
Het |
| Slc13a2 |
T |
C |
11: 78,289,908 (GRCm39) |
T469A |
probably benign |
Het |
| Slc30a9 |
C |
T |
5: 67,473,054 (GRCm39) |
T46I |
probably benign |
Het |
| Slc37a4 |
T |
G |
9: 44,311,320 (GRCm39) |
S204A |
probably benign |
Het |
| Smpd3 |
C |
T |
8: 106,986,291 (GRCm39) |
V504I |
probably benign |
Het |
| Tbx4 |
A |
G |
11: 85,805,465 (GRCm39) |
N418S |
probably benign |
Het |
| Tmem132c |
A |
G |
5: 127,613,506 (GRCm39) |
T470A |
probably benign |
Het |
| Tmem207 |
A |
T |
16: 26,345,407 (GRCm39) |
C20S |
probably damaging |
Het |
| Usp43 |
G |
A |
11: 67,766,142 (GRCm39) |
A761V |
possibly damaging |
Het |
| Vmn1r191 |
C |
T |
13: 22,363,055 (GRCm39) |
S233N |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,874 (GRCm39) |
E256D |
probably benign |
Het |
| Zc3hav1 |
T |
C |
6: 38,313,493 (GRCm39) |
Y184C |
probably damaging |
Het |
|
| Other mutations in Slc8b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00958:Slc8b1
|
APN |
5 |
120,671,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01111:Slc8b1
|
APN |
5 |
120,671,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02186:Slc8b1
|
APN |
5 |
120,665,928 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02448:Slc8b1
|
APN |
5 |
120,663,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02501:Slc8b1
|
APN |
5 |
120,658,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Slc8b1
|
UTSW |
5 |
120,659,928 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0062:Slc8b1
|
UTSW |
5 |
120,659,928 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0082:Slc8b1
|
UTSW |
5 |
120,662,265 (GRCm39) |
unclassified |
probably benign |
|
|
R0532:Slc8b1
|
UTSW |
5 |
120,657,736 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0550:Slc8b1
|
UTSW |
5 |
120,669,220 (GRCm39) |
splice site |
probably benign |
|
|
R0751:Slc8b1
|
UTSW |
5 |
120,662,260 (GRCm39) |
unclassified |
probably benign |
|
|
R1667:Slc8b1
|
UTSW |
5 |
120,659,147 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1710:Slc8b1
|
UTSW |
5 |
120,657,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Slc8b1
|
UTSW |
5 |
120,659,180 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1865:Slc8b1
|
UTSW |
5 |
120,667,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2829:Slc8b1
|
UTSW |
5 |
120,662,078 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4544:Slc8b1
|
UTSW |
5 |
120,669,218 (GRCm39) |
splice site |
probably null |
|
|
R4553:Slc8b1
|
UTSW |
5 |
120,667,663 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4976:Slc8b1
|
UTSW |
5 |
120,663,740 (GRCm39) |
nonsense |
probably null |
|
|
R4977:Slc8b1
|
UTSW |
5 |
120,662,352 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5690:Slc8b1
|
UTSW |
5 |
120,651,270 (GRCm39) |
nonsense |
probably null |
|
|
R5812:Slc8b1
|
UTSW |
5 |
120,651,403 (GRCm39) |
splice site |
probably null |
|
|
R6030:Slc8b1
|
UTSW |
5 |
120,657,985 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6030:Slc8b1
|
UTSW |
5 |
120,657,985 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6107:Slc8b1
|
UTSW |
5 |
120,667,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6411:Slc8b1
|
UTSW |
5 |
120,659,191 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6486:Slc8b1
|
UTSW |
5 |
120,671,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6542:Slc8b1
|
UTSW |
5 |
120,667,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6550:Slc8b1
|
UTSW |
5 |
120,662,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6992:Slc8b1
|
UTSW |
5 |
120,665,880 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7672:Slc8b1
|
UTSW |
5 |
120,671,100 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8056:Slc8b1
|
UTSW |
5 |
120,658,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8444:Slc8b1
|
UTSW |
5 |
120,651,203 (GRCm39) |
start gained |
probably benign |
|
|
R9103:Slc8b1
|
UTSW |
5 |
120,670,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9106:Slc8b1
|
UTSW |
5 |
120,668,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9166:Slc8b1
|
UTSW |
5 |
120,662,096 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9565:Slc8b1
|
UTSW |
5 |
120,665,865 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation