Incidental Mutation 'R5275:Slc24a5'
| ID |
403865 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc24a5
|
| Ensembl Gene |
ENSMUSG00000035183 |
| Gene Name |
solute carrier family 24, member 5 |
| Synonyms |
Oca6, F630045L20Rik, NCX5, NCKX5 |
| MMRRC Submission |
042838-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5275 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
124910076-124930316 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 124927781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 360
(T360I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063887
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067780]
[ENSMUST00000070353]
[ENSMUST00000110501]
[ENSMUST00000142718]
[ENSMUST00000147105]
[ENSMUST00000152367]
|
| AlphaFold |
Q8C261 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067780
|
| SMART Domains |
Protein: ENSMUSP00000066312
Gene: ENSMUSG00000027201
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
92 |
165 |
1.84e-22 |
SMART |
|
low complexity region
|
198 |
211 |
N/A |
INTRINSIC |
|
RRM
|
225 |
297 |
5.12e-21 |
SMART |
|
low complexity region
|
318 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
450 |
N/A |
INTRINSIC |
|
RRM
|
498 |
569 |
6.15e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070353
AA Change: T360I
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000063887
Gene: ENSMUSG00000035183
AA Change: T360I
| 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 |
probably benign
Transcript: ENSMUST00000089825
|
| SMART Domains |
Protein: ENSMUSP00000087258
Gene: ENSMUSG00000027201
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
48 |
121 |
1.84e-22 |
SMART |
|
low complexity region
|
154 |
167 |
N/A |
INTRINSIC |
|
RRM
|
181 |
253 |
5.12e-21 |
SMART |
|
low complexity region
|
274 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
406 |
N/A |
INTRINSIC |
|
RRM
|
454 |
525 |
6.15e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110501
|
| SMART Domains |
Protein: ENSMUSP00000106127
Gene: ENSMUSG00000027201
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
92 |
165 |
1.84e-22 |
SMART |
|
low complexity region
|
198 |
211 |
N/A |
INTRINSIC |
|
RRM
|
225 |
297 |
5.12e-21 |
SMART |
|
low complexity region
|
318 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
450 |
N/A |
INTRINSIC |
|
RRM
|
498 |
569 |
6.15e-24 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129945
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139615
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142718
|
| SMART Domains |
Protein: ENSMUSP00000115519
Gene: ENSMUSG00000027201
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
92 |
165 |
1.84e-22 |
SMART |
|
low complexity region
|
198 |
211 |
N/A |
INTRINSIC |
|
RRM
|
225 |
297 |
5.12e-21 |
SMART |
|
low complexity region
|
318 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
443 |
N/A |
INTRINSIC |
|
RRM
|
491 |
562 |
6.15e-24 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149963
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147105
|
| SMART Domains |
Protein: ENSMUSP00000114817
Gene: ENSMUSG00000027201
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
92 |
165 |
1.84e-22 |
SMART |
|
low complexity region
|
198 |
211 |
N/A |
INTRINSIC |
|
RRM
|
225 |
297 |
5.12e-21 |
SMART |
|
low complexity region
|
318 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
426 |
N/A |
INTRINSIC |
|
RRM
|
474 |
545 |
6.15e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152367
|
| SMART Domains |
Protein: ENSMUSP00000123088
Gene: ENSMUSG00000027201
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
92 |
165 |
1.84e-22 |
SMART |
|
low complexity region
|
198 |
211 |
N/A |
INTRINSIC |
|
RRM
|
225 |
297 |
5.12e-21 |
SMART |
|
low complexity region
|
318 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
447 |
467 |
N/A |
INTRINSIC |
|
RRM
|
515 |
586 |
6.15e-24 |
SMART |
|
| Meta Mutation Damage Score |
0.0840 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (59/59) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
C |
T |
4: 103,092,856 (GRCm39) |
R155H |
probably benign |
Het |
| Abcc1 |
C |
T |
16: 14,284,050 (GRCm39) |
L1222F |
probably damaging |
Het |
| Alpl |
T |
C |
4: 137,476,919 (GRCm39) |
T245A |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,825,832 (GRCm39) |
H378R |
probably damaging |
Het |
| Apold1 |
G |
T |
6: 134,960,763 (GRCm39) |
L72F |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,618,777 (GRCm39) |
|
probably null |
Het |
| Atp5f1c |
T |
C |
2: 10,073,544 (GRCm39) |
R10G |
possibly damaging |
Het |
| Becn2 |
A |
G |
1: 175,748,336 (GRCm39) |
H134R |
probably benign |
Het |
| Ccr10 |
C |
T |
11: 101,065,111 (GRCm39) |
V140M |
possibly damaging |
Het |
| Cep135 |
T |
A |
5: 76,741,051 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Chd6 |
A |
G |
2: 160,811,283 (GRCm39) |
L1440P |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,519,340 (GRCm39) |
S279P |
probably damaging |
Het |
| Cma1 |
A |
T |
14: 56,179,157 (GRCm39) |
I233N |
probably damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,495,239 (GRCm39) |
E493G |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,219,229 (GRCm39) |
S1890P |
probably benign |
Het |
| Ears2 |
T |
C |
7: 121,647,421 (GRCm39) |
R288G |
probably damaging |
Het |
| Elovl4 |
G |
A |
9: 83,662,714 (GRCm39) |
P273L |
possibly damaging |
Het |
| Fryl |
T |
C |
5: 73,270,134 (GRCm39) |
Y79C |
probably damaging |
Het |
| Gad1-ps |
A |
G |
10: 99,280,751 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5117 |
T |
A |
8: 32,229,595 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T5 |
T |
C |
17: 36,472,567 (GRCm39) |
|
probably null |
Het |
| Lmtk3 |
G |
A |
7: 45,440,722 (GRCm39) |
D243N |
probably damaging |
Het |
| Lsm7 |
T |
C |
10: 80,690,454 (GRCm39) |
E32G |
probably damaging |
Het |
| Opa1 |
C |
T |
16: 29,430,397 (GRCm39) |
T451I |
probably damaging |
Het |
| Or2bd2 |
A |
T |
7: 6,443,015 (GRCm39) |
T39S |
probably benign |
Het |
| Or4f15 |
T |
A |
2: 111,814,174 (GRCm39) |
I82F |
probably damaging |
Het |
| Or4k1 |
T |
A |
14: 50,377,953 (GRCm39) |
I48F |
probably benign |
Het |
| Pcdh12 |
T |
A |
18: 38,417,154 (GRCm39) |
|
probably benign |
Het |
| Perm1 |
T |
C |
4: 156,301,975 (GRCm39) |
L173P |
probably benign |
Het |
| Plvap |
T |
C |
8: 71,964,314 (GRCm39) |
Q16R |
probably benign |
Het |
| Ppan |
T |
A |
9: 20,801,069 (GRCm39) |
Y115* |
probably null |
Het |
| Prb1c |
T |
G |
6: 132,338,840 (GRCm39) |
Q126P |
unknown |
Het |
| Prl7d1 |
A |
T |
13: 27,893,230 (GRCm39) |
V227D |
probably damaging |
Het |
| Prss54 |
T |
C |
8: 96,291,106 (GRCm39) |
T165A |
probably damaging |
Het |
| Psrc1 |
A |
G |
3: 108,293,675 (GRCm39) |
I195V |
probably benign |
Het |
| Ptpn20 |
A |
G |
14: 33,353,149 (GRCm39) |
H296R |
probably benign |
Het |
| Rergl |
A |
G |
6: 139,478,819 (GRCm39) |
|
probably null |
Het |
| Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
| Scfd1 |
A |
T |
12: 51,462,372 (GRCm39) |
H409L |
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,114,637 (GRCm39) |
E333G |
probably damaging |
Het |
| Serpinb6c |
A |
G |
13: 34,077,800 (GRCm39) |
F190S |
probably damaging |
Het |
| Snx6 |
T |
C |
12: 54,830,807 (GRCm39) |
H51R |
probably damaging |
Het |
| Sorl1 |
A |
T |
9: 41,942,198 (GRCm39) |
V1009D |
probably benign |
Het |
| Tdh |
T |
C |
14: 63,733,558 (GRCm39) |
Y110C |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,018,346 (GRCm39) |
L1255* |
probably null |
Het |
| Tlk1 |
C |
T |
2: 70,582,549 (GRCm39) |
|
probably benign |
Het |
| Tnc |
G |
A |
4: 63,882,967 (GRCm39) |
Q1885* |
probably null |
Het |
| Vcl |
T |
C |
14: 21,060,146 (GRCm39) |
V595A |
probably damaging |
Het |
| Vmn1r84 |
A |
T |
7: 12,095,741 (GRCm39) |
N305K |
probably benign |
Het |
| Zbtb2 |
T |
C |
10: 4,318,508 (GRCm39) |
K506R |
probably 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 |
|
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 |
|
R6675:Slc24a5
|
UTSW |
2 |
124,922,615 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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'- AAAATGTTGAACTTTCCCACCACAG -3'
(R):5'- AAAACATGAATGAGCTTGCTGG -3'
Sequencing Primer
(F):5'- GTTTTCAGCATGCCAGAAGC -3'
(R):5'- AAACATGAATGAGCTTGCTGGTTTTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation