Incidental Mutation 'R6675:Slc24a5'
ID |
527236 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc24a5
|
Ensembl Gene |
ENSMUSG00000035183 |
Gene Name |
solute carrier family 24, member 5 |
Synonyms |
Oca6, F630045L20Rik, NCX5, NCKX5 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6675 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
124910076-124930316 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 124922615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 126
(A126S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063887
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070353]
|
AlphaFold |
Q8C261 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070353
AA Change: A126S
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000063887 Gene: ENSMUSG00000035183 AA Change: A126S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
72 |
216 |
1.1e-24 |
PFAM |
low complexity region
|
274 |
290 |
N/A |
INTRINSIC |
low complexity region
|
311 |
324 |
N/A |
INTRINSIC |
Pfam:Na_Ca_ex
|
334 |
485 |
7.6e-31 |
PFAM |
low complexity region
|
488 |
500 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129945
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139615
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149963
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypopigmentation and ocular albinism. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 110,006,302 (GRCm39) |
T1268A |
probably benign |
Het |
Adamts20 |
A |
G |
15: 94,229,197 (GRCm39) |
|
probably null |
Het |
Arhgap45 |
G |
T |
10: 79,853,938 (GRCm39) |
D151Y |
probably null |
Het |
Arhgef40 |
C |
A |
14: 52,229,098 (GRCm39) |
L592I |
probably damaging |
Het |
Ascc3 |
G |
T |
10: 50,626,659 (GRCm39) |
E1720* |
probably null |
Het |
Atp2c1 |
C |
T |
9: 105,330,732 (GRCm39) |
|
probably null |
Het |
Avpi1 |
G |
A |
19: 42,112,183 (GRCm39) |
P125L |
probably benign |
Het |
Cers3 |
A |
T |
7: 66,435,844 (GRCm39) |
T232S |
possibly damaging |
Het |
Cfap53 |
T |
C |
18: 74,440,447 (GRCm39) |
|
probably null |
Het |
Col4a3 |
T |
C |
1: 82,646,646 (GRCm39) |
S386P |
unknown |
Het |
Dhtkd1 |
A |
T |
2: 5,908,889 (GRCm39) |
M735K |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Gad2 |
T |
C |
2: 22,563,997 (GRCm39) |
V400A |
possibly damaging |
Het |
Gm10801 |
TC |
TCGCC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
Hmgxb3 |
T |
G |
18: 61,270,648 (GRCm39) |
D892A |
possibly damaging |
Het |
Hsd3b2 |
G |
A |
3: 98,620,788 (GRCm39) |
T89I |
probably benign |
Het |
Iars1 |
C |
A |
13: 49,873,054 (GRCm39) |
A713D |
probably damaging |
Het |
Itih1 |
G |
A |
14: 30,651,798 (GRCm39) |
T848I |
possibly damaging |
Het |
Kcne2 |
A |
G |
16: 92,093,512 (GRCm39) |
D13G |
probably benign |
Het |
Klra17 |
T |
A |
6: 129,849,286 (GRCm39) |
N96I |
probably damaging |
Het |
Lrig2 |
T |
C |
3: 104,365,251 (GRCm39) |
N634D |
probably benign |
Het |
Mrc2 |
T |
A |
11: 105,233,906 (GRCm39) |
|
probably null |
Het |
Mroh3 |
A |
T |
1: 136,118,550 (GRCm39) |
S558T |
possibly damaging |
Het |
Ncapg2 |
G |
T |
12: 116,398,281 (GRCm39) |
K627N |
possibly damaging |
Het |
Ncstn |
A |
T |
1: 171,899,095 (GRCm39) |
D345E |
probably damaging |
Het |
Nkx1-1 |
G |
T |
5: 33,591,223 (GRCm39) |
A33E |
unknown |
Het |
Or2n1 |
T |
A |
17: 38,486,905 (GRCm39) |
M310K |
probably benign |
Het |
Or51f2 |
A |
G |
7: 102,526,480 (GRCm39) |
E51G |
possibly damaging |
Het |
Osbpl9 |
G |
T |
4: 108,991,025 (GRCm39) |
|
probably null |
Het |
P2rx6 |
T |
C |
16: 17,380,032 (GRCm39) |
V52A |
probably benign |
Het |
Pcdhgb5 |
C |
T |
18: 37,864,255 (GRCm39) |
L17F |
probably damaging |
Het |
Pdk2 |
T |
C |
11: 94,919,568 (GRCm39) |
I273V |
probably benign |
Het |
Pdpr |
C |
T |
8: 111,828,532 (GRCm39) |
Q12* |
probably null |
Het |
Plxdc2 |
A |
G |
2: 16,716,932 (GRCm39) |
T339A |
probably benign |
Het |
Pramel27 |
G |
A |
4: 143,579,828 (GRCm39) |
C471Y |
probably damaging |
Het |
Retsat |
T |
C |
6: 72,578,672 (GRCm39) |
V128A |
probably benign |
Het |
Rnf17 |
A |
G |
14: 56,697,432 (GRCm39) |
E442G |
probably damaging |
Het |
Sec31b |
T |
C |
19: 44,512,214 (GRCm39) |
N560S |
probably benign |
Het |
Slc22a16 |
C |
T |
10: 40,449,836 (GRCm39) |
Q91* |
probably null |
Het |
Slc26a4 |
A |
T |
12: 31,590,512 (GRCm39) |
D380E |
possibly damaging |
Het |
Stc2 |
T |
A |
11: 31,310,307 (GRCm39) |
D243V |
probably benign |
Het |
Tshz2 |
G |
T |
2: 169,727,965 (GRCm39) |
A385S |
probably damaging |
Het |
Vmn1r113 |
G |
A |
7: 20,521,903 (GRCm39) |
G232S |
probably benign |
Het |
Vmn1r77 |
A |
G |
7: 11,775,382 (GRCm39) |
T53A |
probably damaging |
Het |
Zeb2 |
A |
T |
2: 44,887,457 (GRCm39) |
Y518* |
probably null |
Het |
Zfp760 |
T |
A |
17: 21,941,991 (GRCm39) |
S389T |
possibly damaging |
Het |
|
Other mutations in Slc24a5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00776:Slc24a5
|
APN |
2 |
124,922,809 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01307:Slc24a5
|
APN |
2 |
124,922,800 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01926:Slc24a5
|
APN |
2 |
124,910,823 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02090:Slc24a5
|
APN |
2 |
124,910,218 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02313:Slc24a5
|
APN |
2 |
124,927,567 (GRCm39) |
unclassified |
probably benign |
|
IGL02328:Slc24a5
|
APN |
2 |
124,922,559 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02743:Slc24a5
|
APN |
2 |
124,930,154 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02969:Slc24a5
|
APN |
2 |
124,925,147 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03212:Slc24a5
|
APN |
2 |
124,922,750 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03258:Slc24a5
|
APN |
2 |
124,922,625 (GRCm39) |
critical splice donor site |
probably null |
|
Scarce
|
UTSW |
2 |
124,922,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R0344:Slc24a5
|
UTSW |
2 |
124,927,621 (GRCm39) |
missense |
probably benign |
0.03 |
R0811:Slc24a5
|
UTSW |
2 |
124,910,724 (GRCm39) |
missense |
probably damaging |
0.98 |
R0812:Slc24a5
|
UTSW |
2 |
124,910,724 (GRCm39) |
missense |
probably damaging |
0.98 |
R1018:Slc24a5
|
UTSW |
2 |
124,910,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R1574:Slc24a5
|
UTSW |
2 |
124,922,782 (GRCm39) |
missense |
probably damaging |
0.96 |
R1574:Slc24a5
|
UTSW |
2 |
124,922,782 (GRCm39) |
missense |
probably damaging |
0.96 |
R1753:Slc24a5
|
UTSW |
2 |
124,925,115 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2147:Slc24a5
|
UTSW |
2 |
124,929,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R4934:Slc24a5
|
UTSW |
2 |
124,929,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R4964:Slc24a5
|
UTSW |
2 |
124,910,188 (GRCm39) |
missense |
probably benign |
0.20 |
R4966:Slc24a5
|
UTSW |
2 |
124,910,188 (GRCm39) |
missense |
probably benign |
0.20 |
R5225:Slc24a5
|
UTSW |
2 |
124,927,739 (GRCm39) |
missense |
probably damaging |
0.99 |
R5275:Slc24a5
|
UTSW |
2 |
124,927,781 (GRCm39) |
missense |
probably benign |
0.09 |
R5438:Slc24a5
|
UTSW |
2 |
124,910,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R5866:Slc24a5
|
UTSW |
2 |
124,927,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R6038:Slc24a5
|
UTSW |
2 |
124,927,651 (GRCm39) |
missense |
probably benign |
0.04 |
R6038:Slc24a5
|
UTSW |
2 |
124,927,651 (GRCm39) |
missense |
probably benign |
0.04 |
R6114:Slc24a5
|
UTSW |
2 |
124,925,012 (GRCm39) |
missense |
probably benign |
0.01 |
R6211:Slc24a5
|
UTSW |
2 |
124,930,171 (GRCm39) |
missense |
probably benign |
0.23 |
R6516:Slc24a5
|
UTSW |
2 |
124,930,027 (GRCm39) |
missense |
probably benign |
0.01 |
R6677:Slc24a5
|
UTSW |
2 |
124,922,615 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6826:Slc24a5
|
UTSW |
2 |
124,910,778 (GRCm39) |
missense |
probably benign |
0.00 |
R7100:Slc24a5
|
UTSW |
2 |
124,922,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R7122:Slc24a5
|
UTSW |
2 |
124,930,111 (GRCm39) |
missense |
probably benign |
0.15 |
R7381:Slc24a5
|
UTSW |
2 |
124,910,869 (GRCm39) |
missense |
probably benign |
0.29 |
R7398:Slc24a5
|
UTSW |
2 |
124,927,694 (GRCm39) |
nonsense |
probably null |
|
R7401:Slc24a5
|
UTSW |
2 |
124,930,111 (GRCm39) |
missense |
probably benign |
0.15 |
R8219:Slc24a5
|
UTSW |
2 |
124,927,575 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9227:Slc24a5
|
UTSW |
2 |
124,922,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R9230:Slc24a5
|
UTSW |
2 |
124,922,568 (GRCm39) |
missense |
probably damaging |
1.00 |
X0067:Slc24a5
|
UTSW |
2 |
124,929,423 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTTCCAGCTTGAGTCAATGAGTG -3'
(R):5'- TTCTTACCATGTTGGACAGGAG -3'
Sequencing Primer
(F):5'- CCAGCTTGAGTCAATGAGTGTAATG -3'
(R):5'- ATGTTGGACAGGAGGCCGC -3'
|
Posted On |
2018-07-23 |