Incidental Mutation 'R5866:Slc24a5'
| ID |
454158 |
| 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 |
044075-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5866 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
124910076-124930316 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 124927591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 297
(F297I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063887
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067780]
[ENSMUST00000070353]
[ENSMUST00000110501]
[ENSMUST00000142718]
[ENSMUST00000152367]
[ENSMUST00000147105]
|
| 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 damaging
Transcript: ENSMUST00000070353
AA Change: F297I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063887
Gene: ENSMUSG00000035183
AA Change: F297I
| 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: 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.1559 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.2%
- 20x: 90.7%
|
| Validation Efficiency |
91% (51/56) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
A |
G |
1: 120,096,814 (GRCm39) |
|
probably benign |
Het |
| A530084C06Rik |
G |
A |
13: 31,743,178 (GRCm39) |
A25V |
unknown |
Het |
| A730018C14Rik |
T |
C |
12: 112,381,472 (GRCm39) |
|
noncoding transcript |
Het |
| Aasdh |
G |
T |
5: 77,024,058 (GRCm39) |
A198E |
probably damaging |
Het |
| Abcb8 |
C |
T |
5: 24,607,101 (GRCm39) |
A328V |
probably damaging |
Het |
| Ace3 |
C |
A |
11: 105,888,330 (GRCm39) |
H347N |
probably damaging |
Het |
| Amy1 |
A |
T |
3: 113,355,569 (GRCm39) |
M302K |
possibly damaging |
Het |
| Apol11b |
C |
T |
15: 77,524,747 (GRCm39) |
V13M |
probably null |
Het |
| Arfgef2 |
T |
A |
2: 166,678,177 (GRCm39) |
V131E |
possibly damaging |
Het |
| Arnt |
T |
A |
3: 95,398,037 (GRCm39) |
|
probably benign |
Het |
| Atl1 |
T |
C |
12: 69,972,785 (GRCm39) |
V35A |
probably damaging |
Het |
| BC061237 |
A |
T |
14: 44,738,730 (GRCm39) |
D43V |
possibly damaging |
Het |
| Cracd |
A |
G |
5: 77,005,384 (GRCm39) |
T582A |
unknown |
Het |
| Cyp4f17 |
T |
C |
17: 32,725,887 (GRCm39) |
S7P |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,393,774 (GRCm39) |
Y70C |
probably damaging |
Het |
| Defb34 |
T |
C |
8: 19,176,468 (GRCm39) |
L53P |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,518,567 (GRCm39) |
T525A |
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,030,129 (GRCm39) |
|
probably benign |
Het |
| Fam83d |
T |
A |
2: 158,621,750 (GRCm39) |
|
probably null |
Het |
| Gramd2b |
A |
G |
18: 56,607,108 (GRCm39) |
D74G |
possibly damaging |
Het |
| Hax1 |
A |
G |
3: 89,903,035 (GRCm39) |
|
probably benign |
Het |
| Kcnh8 |
T |
C |
17: 53,263,804 (GRCm39) |
I767T |
probably benign |
Het |
| Ldah |
G |
A |
12: 8,270,614 (GRCm39) |
V5I |
possibly damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,460,560 (GRCm39) |
V1758A |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,033,967 (GRCm39) |
D363G |
probably damaging |
Het |
| Or14j6 |
C |
T |
17: 38,214,700 (GRCm39) |
R88* |
probably null |
Het |
| Pdlim7 |
T |
A |
13: 55,646,501 (GRCm39) |
D445V |
probably damaging |
Het |
| Phip |
T |
A |
9: 82,772,203 (GRCm39) |
M1115L |
probably benign |
Het |
| Pigb |
C |
T |
9: 72,936,966 (GRCm39) |
A215T |
probably damaging |
Het |
| Pkd1 |
A |
T |
17: 24,799,935 (GRCm39) |
S2952C |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,051,775 (GRCm39) |
D148G |
probably damaging |
Het |
| Ppp1r36 |
T |
C |
12: 76,473,579 (GRCm39) |
F70S |
possibly damaging |
Het |
| Rad52 |
G |
A |
6: 119,889,907 (GRCm39) |
|
probably benign |
Het |
| Rasa2 |
T |
A |
9: 96,427,823 (GRCm39) |
T681S |
probably benign |
Het |
| Rel |
A |
T |
11: 23,692,724 (GRCm39) |
Y436* |
probably null |
Het |
| Sec16a |
G |
A |
2: 26,309,650 (GRCm39) |
P2119S |
probably benign |
Het |
| Sema6d |
C |
A |
2: 124,506,262 (GRCm39) |
T733K |
probably benign |
Het |
| Sf3b3 |
C |
T |
8: 111,541,266 (GRCm39) |
A950T |
probably benign |
Het |
| Spp2 |
A |
T |
1: 88,340,025 (GRCm39) |
D122V |
possibly damaging |
Het |
| Stap1 |
A |
G |
5: 86,225,906 (GRCm39) |
K60R |
probably benign |
Het |
| Stat1 |
A |
G |
1: 52,178,423 (GRCm39) |
K286E |
probably damaging |
Het |
| Stn1 |
T |
C |
19: 47,505,568 (GRCm39) |
T129A |
probably benign |
Het |
| Tagap |
C |
T |
17: 8,152,285 (GRCm39) |
T490I |
probably damaging |
Het |
| Tbc1d2 |
T |
C |
4: 46,637,715 (GRCm39) |
E177G |
possibly damaging |
Het |
| Tln2 |
A |
T |
9: 67,174,150 (GRCm39) |
L841Q |
probably damaging |
Het |
| Tmem59 |
T |
A |
4: 107,047,754 (GRCm39) |
M71K |
probably damaging |
Het |
| Ugt2a3 |
G |
A |
5: 87,484,406 (GRCm39) |
T206I |
probably damaging |
Het |
| Utp20 |
G |
A |
10: 88,608,421 (GRCm39) |
H1539Y |
possibly damaging |
Het |
| Vps13a |
T |
C |
19: 16,657,387 (GRCm39) |
N1794S |
probably benign |
Het |
| Vsig10 |
A |
T |
5: 117,490,814 (GRCm39) |
|
probably null |
Het |
| Zfp97 |
T |
A |
17: 17,365,087 (GRCm39) |
F195L |
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 |
|
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'- CATTTCTTCTGACCAGCAGTAATAG -3'
(R):5'- ACTGTGACCATCCAAACTAGG -3'
Sequencing Primer
(F):5'- ATGCTGAGACCGTTTGACAC -3'
(R):5'- CCAAACTAGGATGTATGTGAATGC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation