Incidental Mutation 'IGL02313:Slc24a5'
| ID |
287918 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02313
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
124910076-124930316 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 124927567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123088
(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
|
| SMART Domains |
Protein: ENSMUSP00000063887
Gene: ENSMUSG00000035183
| 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 |
|
| Coding Region Coverage |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd13c |
T |
A |
3: 157,653,571 (GRCm39) |
N136K |
probably damaging |
Het |
| Aph1b |
A |
T |
9: 66,697,955 (GRCm39) |
|
probably benign |
Het |
| Atf7ip |
A |
G |
6: 136,583,718 (GRCm39) |
K1250E |
probably damaging |
Het |
| Atp8b2 |
T |
C |
3: 89,857,160 (GRCm39) |
N400S |
probably damaging |
Het |
| Brca2 |
C |
A |
5: 150,462,126 (GRCm39) |
S630Y |
probably damaging |
Het |
| Chd6 |
T |
A |
2: 160,807,595 (GRCm39) |
E1873V |
probably damaging |
Het |
| Chrna10 |
T |
C |
7: 101,761,236 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,739,328 (GRCm39) |
L907P |
probably damaging |
Het |
| Cxcr6 |
A |
G |
9: 123,639,770 (GRCm39) |
N264S |
probably damaging |
Het |
| Cyria |
A |
G |
12: 12,414,752 (GRCm39) |
T248A |
possibly damaging |
Het |
| Dgkg |
A |
G |
16: 22,388,980 (GRCm39) |
|
probably benign |
Het |
| Dpysl2 |
T |
G |
14: 67,061,839 (GRCm39) |
M256L |
probably benign |
Het |
| Dsp |
G |
T |
13: 38,380,499 (GRCm39) |
E1816* |
probably null |
Het |
| Fam13b |
T |
C |
18: 34,587,709 (GRCm39) |
K530E |
probably damaging |
Het |
| Fastk |
T |
C |
5: 24,648,090 (GRCm39) |
H242R |
probably damaging |
Het |
| Fbxw28 |
A |
T |
9: 109,166,420 (GRCm39) |
H145Q |
possibly damaging |
Het |
| Heatr6 |
T |
C |
11: 83,669,718 (GRCm39) |
L910P |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,343,617 (GRCm39) |
T4642A |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,235,700 (GRCm39) |
T167A |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,238,111 (GRCm39) |
L690P |
probably benign |
Het |
| Klhdc10 |
G |
A |
6: 30,439,865 (GRCm39) |
|
probably null |
Het |
| Krt31 |
A |
G |
11: 99,939,222 (GRCm39) |
Y232H |
probably damaging |
Het |
| Lsm3 |
A |
G |
6: 91,493,070 (GRCm39) |
|
probably benign |
Het |
| Mfn2 |
T |
A |
4: 147,969,947 (GRCm39) |
I375F |
probably damaging |
Het |
| Mfrp |
A |
T |
9: 44,014,171 (GRCm39) |
I180F |
probably damaging |
Het |
| Msh3 |
T |
C |
13: 92,485,820 (GRCm39) |
E168G |
possibly damaging |
Het |
| Naa16 |
A |
T |
14: 79,622,108 (GRCm39) |
V77D |
probably damaging |
Het |
| Nav2 |
T |
C |
7: 49,208,521 (GRCm39) |
S1570P |
probably damaging |
Het |
| Niban3 |
A |
G |
8: 72,055,504 (GRCm39) |
R305G |
possibly damaging |
Het |
| Numa1 |
C |
T |
7: 101,649,439 (GRCm39) |
R1057* |
probably null |
Het |
| Nup210l |
G |
A |
3: 90,030,099 (GRCm39) |
A271T |
probably damaging |
Het |
| Ogdh |
T |
C |
11: 6,305,400 (GRCm39) |
V965A |
probably damaging |
Het |
| Or10h28 |
C |
A |
17: 33,488,639 (GRCm39) |
Q314K |
probably benign |
Het |
| Or4m1 |
A |
T |
14: 50,557,473 (GRCm39) |
V273E |
probably damaging |
Het |
| Or6c219 |
A |
G |
10: 129,781,772 (GRCm39) |
L53P |
probably damaging |
Het |
| Or7g21 |
A |
T |
9: 19,032,671 (GRCm39) |
N140I |
probably damaging |
Het |
| Or8b51 |
T |
A |
9: 38,569,362 (GRCm39) |
I109F |
probably damaging |
Het |
| Pdp2 |
A |
T |
8: 105,321,531 (GRCm39) |
Q460L |
probably benign |
Het |
| Pex5l |
T |
C |
3: 33,047,141 (GRCm39) |
T270A |
probably benign |
Het |
| Pkp4 |
C |
T |
2: 59,140,598 (GRCm39) |
Q435* |
probably null |
Het |
| Prss32 |
G |
A |
17: 24,075,096 (GRCm39) |
V149M |
probably benign |
Het |
| Riox2 |
C |
A |
16: 59,309,780 (GRCm39) |
P378Q |
probably benign |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Rsph4a |
T |
A |
10: 33,781,521 (GRCm39) |
S124T |
possibly damaging |
Het |
| Sdccag8 |
G |
A |
1: 176,652,321 (GRCm39) |
R24H |
possibly damaging |
Het |
| Slc22a1 |
C |
A |
17: 12,894,387 (GRCm39) |
G54* |
probably null |
Het |
| Tex101 |
C |
T |
7: 24,367,750 (GRCm39) |
V201M |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,501,956 (GRCm39) |
Y223C |
probably damaging |
Het |
| Trpc4ap |
T |
C |
2: 155,492,388 (GRCm39) |
E382G |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,223,565 (GRCm39) |
Y575N |
probably damaging |
Het |
| Vmn2r70 |
T |
C |
7: 85,214,376 (GRCm39) |
I259V |
probably damaging |
Het |
| Xpo1 |
T |
A |
11: 23,227,065 (GRCm39) |
N131K |
probably damaging |
Het |
| Zfp579 |
C |
T |
7: 4,997,432 (GRCm39) |
V160M |
probably benign |
Het |
| Zfp697 |
A |
G |
3: 98,332,766 (GRCm39) |
D64G |
probably benign |
Het |
| Zfp974 |
T |
C |
7: 27,611,678 (GRCm39) |
T16A |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation