Incidental Mutation 'R7100:Slc24a5'
ID |
550747 |
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 |
045192-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7100 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
124910076-124930316 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 124922591 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 118
(S118R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063887
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070353]
|
AlphaFold |
Q8C261 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070353
AA Change: S118R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063887 Gene: ENSMUSG00000035183 AA Change: S118R
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 |
|
Meta Mutation Damage Score |
0.5517 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (54/55) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl10 |
A |
G |
2: 154,394,315 (GRCm39) |
E89G |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,419,016 (GRCm39) |
V5993E |
probably damaging |
Het |
Amdhd1 |
T |
C |
10: 93,372,936 (GRCm39) |
|
probably null |
Het |
Amph |
T |
C |
13: 19,334,011 (GRCm39) |
*691Q |
probably null |
Het |
Ankrd55 |
A |
G |
13: 112,492,644 (GRCm39) |
K272E |
probably benign |
Het |
Arhgef10l |
C |
T |
4: 140,244,126 (GRCm39) |
V838I |
possibly damaging |
Het |
Arl2 |
C |
A |
19: 6,184,774 (GRCm39) |
V160F |
probably benign |
Het |
Catsperb |
T |
C |
12: 101,412,297 (GRCm39) |
V128A |
possibly damaging |
Het |
Cdk11b |
T |
A |
4: 155,710,050 (GRCm39) |
L17H |
probably damaging |
Het |
Cpsf1 |
A |
T |
15: 76,480,314 (GRCm39) |
N1391K |
possibly damaging |
Het |
Cpxm2 |
C |
T |
7: 131,656,544 (GRCm39) |
A573T |
probably benign |
Het |
Cspg4b |
T |
A |
13: 113,455,501 (GRCm39) |
F516I |
|
Het |
Daxx |
T |
C |
17: 34,130,416 (GRCm39) |
S144P |
probably damaging |
Het |
Dpp3 |
T |
C |
19: 4,968,069 (GRCm39) |
D303G |
probably damaging |
Het |
Fam181a |
T |
A |
12: 103,282,132 (GRCm39) |
N12K |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,111,018 (GRCm39) |
R1015S |
unknown |
Het |
Fstl5 |
A |
G |
3: 76,443,600 (GRCm39) |
H315R |
probably benign |
Het |
Fut4 |
A |
G |
9: 14,662,689 (GRCm39) |
S202P |
probably damaging |
Het |
Gm5114 |
T |
C |
7: 39,057,708 (GRCm39) |
D637G |
possibly damaging |
Het |
Gstcd |
G |
T |
3: 132,790,704 (GRCm39) |
T21K |
probably benign |
Het |
Heca |
C |
T |
10: 17,791,121 (GRCm39) |
V312M |
probably benign |
Het |
Herpud1 |
A |
G |
8: 95,117,475 (GRCm39) |
R144G |
probably damaging |
Het |
Hycc2 |
T |
A |
1: 58,573,653 (GRCm39) |
T384S |
possibly damaging |
Het |
Ino80 |
A |
G |
2: 119,204,994 (GRCm39) |
S1511P |
possibly damaging |
Het |
Irf2bp2 |
T |
C |
8: 127,318,472 (GRCm39) |
T365A |
probably benign |
Het |
Klk1 |
G |
A |
7: 43,878,848 (GRCm39) |
G214E |
probably damaging |
Het |
Lama3 |
A |
T |
18: 12,715,701 (GRCm39) |
N1719I |
possibly damaging |
Het |
Lmna |
A |
G |
3: 88,392,297 (GRCm39) |
I365T |
probably damaging |
Het |
Lrp8 |
C |
A |
4: 107,659,647 (GRCm39) |
A13E |
possibly damaging |
Het |
Ly75 |
A |
G |
2: 60,136,778 (GRCm39) |
L1483P |
probably benign |
Het |
Maco1 |
T |
C |
4: 134,533,971 (GRCm39) |
D550G |
probably damaging |
Het |
Mid1 |
A |
G |
X: 168,768,073 (GRCm39) |
D407G |
probably benign |
Het |
Mpl |
G |
T |
4: 118,314,607 (GRCm39) |
A21E |
|
Het |
Mus81 |
C |
T |
19: 5,534,239 (GRCm39) |
G360S |
probably damaging |
Het |
Nmt2 |
T |
A |
2: 3,313,950 (GRCm39) |
S250T |
probably benign |
Het |
Nr1d1 |
C |
A |
11: 98,662,160 (GRCm39) |
R158L |
probably damaging |
Het |
Pcgf6 |
G |
A |
19: 47,039,153 (GRCm39) |
P36S |
unknown |
Het |
Pcnx2 |
G |
A |
8: 126,485,853 (GRCm39) |
A1915V |
probably benign |
Het |
Peak1 |
A |
G |
9: 56,166,677 (GRCm39) |
V417A |
probably damaging |
Het |
Phf20l1 |
A |
G |
15: 66,476,689 (GRCm39) |
N262S |
probably benign |
Het |
Plaat5 |
T |
A |
19: 7,616,923 (GRCm39) |
F313I |
unknown |
Het |
Ppp2r5d |
A |
G |
17: 46,996,608 (GRCm39) |
V355A |
probably benign |
Het |
Rasa3 |
T |
C |
8: 13,636,897 (GRCm39) |
T395A |
probably benign |
Het |
Rims1 |
T |
A |
1: 22,416,697 (GRCm39) |
I432F |
probably benign |
Het |
Rnf123 |
C |
T |
9: 107,933,838 (GRCm39) |
C1080Y |
probably damaging |
Het |
Serpina3g |
T |
C |
12: 104,204,570 (GRCm39) |
|
probably benign |
Het |
Shank2 |
T |
A |
7: 143,964,901 (GRCm39) |
D836E |
possibly damaging |
Het |
Smg1 |
G |
T |
7: 117,783,743 (GRCm39) |
H1048N |
unknown |
Het |
Specc1l |
T |
G |
10: 75,081,329 (GRCm39) |
S242A |
probably benign |
Het |
Tagap1 |
A |
T |
17: 7,224,111 (GRCm39) |
L195Q |
possibly damaging |
Het |
Trpc3 |
C |
A |
3: 36,704,216 (GRCm39) |
E580D |
probably benign |
Het |
Ttn |
A |
T |
2: 76,541,166 (GRCm39) |
V33940E |
probably benign |
Het |
Upp2 |
G |
T |
2: 58,681,817 (GRCm39) |
R318L |
probably benign |
Het |
Vezt |
T |
A |
10: 93,832,795 (GRCm39) |
E205D |
probably benign |
Het |
Vmn1r177 |
A |
G |
7: 23,565,535 (GRCm39) |
F114L |
probably benign |
Het |
Vmn2r53 |
C |
A |
7: 12,315,513 (GRCm39) |
E769* |
probably null |
Het |
Vnn3 |
T |
C |
10: 23,741,840 (GRCm39) |
Y382H |
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 |
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 |
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'- GGAAACCAAGATACATACAGGATTC -3'
(R):5'- AGATGCCGAGGAGATTATAAATTGC -3'
Sequencing Primer
(F):5'- GGATTCCTCTATTTCTAACCCAAATG -3'
(R):5'- CAGATCCTAGTATGGTGCTGATACC -3'
|
Posted On |
2019-05-15 |