Incidental Mutation 'R6486:Slc8b1'
ID |
517332 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc8b1
|
Ensembl Gene |
ENSMUSG00000032754 |
Gene Name |
solute carrier family 8 (sodium/lithium/calcium exchanger), member B1 |
Synonyms |
NCLX, NCKX6, Slc24a6 |
MMRRC Submission |
044618-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6486 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
120649233-120672089 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120671067 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 551
(F551S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107521
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046426]
[ENSMUST00000068326]
[ENSMUST00000076051]
[ENSMUST00000111889]
[ENSMUST00000111890]
|
AlphaFold |
Q925Q3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046426
|
SMART Domains |
Protein: ENSMUSP00000042188 Gene: ENSMUSG00000032741
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans
|
106 |
332 |
1.5e-30 |
PFAM |
Pfam:Ion_trans
|
441 |
695 |
1.2e-31 |
PFAM |
SCOP:d1fxkc_
|
713 |
795 |
2e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068326
AA Change: F568S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064714 Gene: ENSMUSG00000032754 AA Change: F568S
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 |
silent
Transcript: ENSMUST00000076051
|
SMART Domains |
Protein: ENSMUSP00000075428 Gene: ENSMUSG00000032754
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: F512S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107520 Gene: ENSMUSG00000032754 AA Change: F512S
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: F551S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107521 Gene: ENSMUSG00000032754 AA Change: F551S
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (30/30) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cacna1d |
T |
A |
14: 29,836,190 (GRCm39) |
M853L |
probably benign |
Het |
Cacna2d1 |
C |
T |
5: 16,524,448 (GRCm39) |
|
probably null |
Het |
Capg |
G |
T |
6: 72,534,733 (GRCm39) |
E187* |
probably null |
Het |
Carns1 |
C |
T |
19: 4,219,979 (GRCm39) |
A419T |
probably benign |
Het |
Cpt1b |
A |
G |
15: 89,305,027 (GRCm39) |
M407T |
probably benign |
Het |
Dlg2 |
A |
T |
7: 91,521,582 (GRCm39) |
|
probably null |
Het |
Ep400 |
T |
C |
5: 110,845,084 (GRCm39) |
|
probably benign |
Het |
Epha4 |
T |
C |
1: 77,360,186 (GRCm39) |
N704D |
probably damaging |
Het |
Gga2 |
A |
G |
7: 121,601,411 (GRCm39) |
S231P |
probably damaging |
Het |
Gpbp1l1 |
A |
G |
4: 116,438,572 (GRCm39) |
K223E |
probably damaging |
Het |
Homer1 |
A |
T |
13: 93,528,233 (GRCm39) |
N78I |
possibly damaging |
Het |
Lmbr1 |
C |
T |
5: 29,528,859 (GRCm39) |
V122M |
probably damaging |
Het |
Mpeg1 |
C |
A |
19: 12,439,469 (GRCm39) |
A309E |
probably damaging |
Het |
Myo18a |
A |
G |
11: 77,755,648 (GRCm39) |
E1713G |
possibly damaging |
Het |
Neto1 |
A |
G |
18: 86,479,371 (GRCm39) |
I186M |
probably benign |
Het |
Nfasc |
T |
C |
1: 132,532,952 (GRCm39) |
D668G |
probably damaging |
Het |
Nlrc5 |
T |
C |
8: 95,247,927 (GRCm39) |
|
probably null |
Het |
Or1j11 |
A |
T |
2: 36,311,556 (GRCm39) |
I49F |
probably damaging |
Het |
Or5b124 |
T |
G |
19: 13,611,055 (GRCm39) |
N193K |
probably damaging |
Het |
Or8c11 |
G |
A |
9: 38,289,200 (GRCm39) |
V2I |
probably benign |
Het |
Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
Prkdc |
T |
C |
16: 15,570,628 (GRCm39) |
S2304P |
probably damaging |
Het |
Sgsm3 |
T |
C |
15: 80,895,546 (GRCm39) |
I699T |
probably damaging |
Het |
Stra6 |
TC |
T |
9: 58,058,705 (GRCm39) |
|
probably null |
Het |
Tlr3 |
T |
C |
8: 45,851,650 (GRCm39) |
|
probably null |
Het |
Tnfrsf22 |
T |
C |
7: 143,194,493 (GRCm39) |
T145A |
possibly damaging |
Het |
Trp63 |
A |
T |
16: 25,684,090 (GRCm39) |
T326S |
probably damaging |
Het |
Unc45a |
C |
G |
7: 79,989,400 (GRCm39) |
E23Q |
probably benign |
Het |
Vmn1r234 |
A |
T |
17: 21,449,604 (GRCm39) |
M173L |
probably benign |
Het |
Vmn2r13 |
T |
G |
5: 109,304,425 (GRCm39) |
I669L |
probably benign |
Het |
Vwa5a |
G |
A |
9: 38,645,174 (GRCm39) |
G420R |
probably null |
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 |
IGL03380:Slc8b1
|
APN |
5 |
120,657,800 (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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGTGTACCAAGGACCCAAC -3'
(R):5'- GCCAGTGACTATCTTCTCAGG -3'
Sequencing Primer
(F):5'- TGCACATGGCCCAGAAG -3'
(R):5'- GACTATCTTCTCAGGAGATCCACGG -3'
|
Posted On |
2018-05-21 |