Incidental Mutation 'R5438:Slc24a5'
| ID |
428462 |
| 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 |
043003-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5438 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
124910076-124930316 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124910785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 72
(Y72C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063887
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070353]
|
| AlphaFold |
Q8C261 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070353
AA Change: Y72C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063887
Gene: ENSMUSG00000035183
AA Change: Y72C
| 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: ENSMUST00000139615
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
C |
A |
7: 66,538,165 (GRCm39) |
Q244K |
probably benign |
Het |
| Arpc2 |
T |
A |
1: 74,275,995 (GRCm39) |
L4Q |
probably null |
Het |
| Atp7b |
C |
T |
8: 22,504,570 (GRCm39) |
V581I |
probably benign |
Het |
| Bpifb9b |
T |
A |
2: 154,151,288 (GRCm39) |
V3D |
possibly damaging |
Het |
| Capn13 |
A |
G |
17: 73,633,479 (GRCm39) |
F525L |
probably benign |
Het |
| Cimip4 |
T |
C |
15: 78,263,040 (GRCm39) |
T180A |
possibly damaging |
Het |
| Cmya5 |
G |
T |
13: 93,231,707 (GRCm39) |
T1127K |
possibly damaging |
Het |
| Col6a4 |
A |
T |
9: 105,890,895 (GRCm39) |
L1800I |
possibly damaging |
Het |
| Cpd |
T |
A |
11: 76,682,792 (GRCm39) |
I1076F |
possibly damaging |
Het |
| Elp4 |
A |
G |
2: 105,734,748 (GRCm39) |
F29S |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,650,799 (GRCm39) |
Y448* |
probably null |
Het |
| Fam219a |
A |
G |
4: 41,520,302 (GRCm39) |
S149P |
probably damaging |
Het |
| Gdap2 |
A |
T |
3: 100,085,629 (GRCm39) |
I184F |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,720,870 (GRCm39) |
N409D |
probably benign |
Het |
| Grin2b |
C |
T |
6: 135,713,304 (GRCm39) |
G859D |
probably damaging |
Het |
| Hvcn1 |
A |
G |
5: 122,376,527 (GRCm39) |
K153R |
probably damaging |
Het |
| Ighv3-1 |
T |
A |
12: 113,928,089 (GRCm39) |
H90L |
probably benign |
Het |
| Kcnn3 |
T |
A |
3: 89,428,605 (GRCm39) |
L277Q |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,107,769 (GRCm39) |
S2128T |
possibly damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,598,321 (GRCm39) |
S919T |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,661,455 (GRCm39) |
N1163S |
probably damaging |
Het |
| Mypn |
G |
T |
10: 62,971,618 (GRCm39) |
C807* |
probably null |
Het |
| Or52n5 |
G |
A |
7: 104,588,344 (GRCm39) |
V204I |
probably benign |
Het |
| Or5m8 |
T |
C |
2: 85,822,925 (GRCm39) |
F255L |
probably damaging |
Het |
| Otud7a |
A |
G |
7: 63,407,207 (GRCm39) |
N62S |
unknown |
Het |
| Pcdh18 |
A |
T |
3: 49,710,465 (GRCm39) |
Y283* |
probably null |
Het |
| Ptger2 |
A |
T |
14: 45,227,101 (GRCm39) |
H227L |
possibly damaging |
Het |
| Slc35f2 |
T |
A |
9: 53,708,302 (GRCm39) |
D98E |
probably benign |
Het |
| Smad1 |
A |
T |
8: 80,082,949 (GRCm39) |
F184I |
probably benign |
Het |
| Sncg |
C |
T |
14: 34,095,637 (GRCm39) |
V52I |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Zc3h11a |
C |
T |
1: 133,568,385 (GRCm39) |
R88H |
probably damaging |
Het |
| Zfp141 |
A |
G |
7: 42,138,894 (GRCm39) |
V46A |
probably damaging |
Het |
| Zfp472 |
T |
A |
17: 33,197,193 (GRCm39) |
C423S |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,767,705 (GRCm39) |
H841Q |
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 |
|
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'- CAAATACCCCAGTTTAGGCTTTG -3'
(R):5'- AAACGTGCTTCTGCCTGGAC -3'
Sequencing Primer
(F):5'- AGGCTTTGTGGGCTTCAGAC -3'
(R):5'- GACAGACATGGGTGCTCTG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation