Incidental Mutation 'R7398:Slc24a5'
ID |
573949 |
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 |
045480-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7398 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
124910076-124930316 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 124927694 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 331
(W331*)
|
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 null
Transcript: ENSMUST00000070353
AA Change: W331*
|
SMART Domains |
Protein: ENSMUSP00000063887 Gene: ENSMUSG00000035183 AA Change: W331*
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 |
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 |
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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 |
Abl1 |
T |
A |
2: 31,680,811 (GRCm39) |
S368T |
probably damaging |
Het |
Acmsd |
A |
G |
1: 127,657,172 (GRCm39) |
|
probably benign |
Het |
Arid3b |
A |
T |
9: 57,703,495 (GRCm39) |
S445T |
probably benign |
Het |
Brinp1 |
A |
G |
4: 68,759,591 (GRCm39) |
V91A |
probably benign |
Het |
Ccne1 |
A |
G |
7: 37,805,702 (GRCm39) |
|
probably null |
Het |
Col3a1 |
A |
T |
1: 45,366,973 (GRCm39) |
I249F |
unknown |
Het |
Crybg3 |
T |
C |
16: 59,377,688 (GRCm39) |
I1189V |
probably benign |
Het |
Cyp2d34 |
A |
T |
15: 82,500,964 (GRCm39) |
D389E |
probably benign |
Het |
D130043K22Rik |
A |
C |
13: 25,077,360 (GRCm39) |
I998L |
probably damaging |
Het |
Dgkq |
A |
G |
5: 108,803,056 (GRCm39) |
I298T |
possibly damaging |
Het |
Dnah17 |
T |
C |
11: 117,971,550 (GRCm39) |
E2161G |
probably damaging |
Het |
Dnajc25 |
T |
C |
4: 59,017,824 (GRCm39) |
|
probably null |
Het |
Dpp9 |
G |
A |
17: 56,496,405 (GRCm39) |
R768* |
probably null |
Het |
Dusp6 |
T |
A |
10: 99,100,740 (GRCm39) |
N245K |
probably damaging |
Het |
Eea1 |
C |
A |
10: 95,831,493 (GRCm39) |
H195N |
probably benign |
Het |
Efhc1 |
A |
G |
1: 21,059,744 (GRCm39) |
E598G |
probably benign |
Het |
Epb41l1 |
T |
C |
2: 156,376,682 (GRCm39) |
V809A |
probably damaging |
Het |
Gas8 |
T |
A |
8: 124,245,690 (GRCm39) |
M1K |
probably null |
Het |
Gcm1 |
G |
A |
9: 77,971,961 (GRCm39) |
V301I |
probably benign |
Het |
Gm11554 |
T |
A |
11: 99,695,085 (GRCm39) |
S43C |
unknown |
Het |
Gm7298 |
A |
G |
6: 121,758,912 (GRCm39) |
I1177V |
probably benign |
Het |
Gm8011 |
A |
G |
14: 42,285,918 (GRCm39) |
T27A |
|
Het |
Hmcn1 |
A |
G |
1: 150,522,421 (GRCm39) |
I3493T |
probably benign |
Het |
Insrr |
T |
G |
3: 87,716,039 (GRCm39) |
I578S |
probably damaging |
Het |
Kif13b |
A |
G |
14: 64,994,972 (GRCm39) |
D908G |
probably null |
Het |
Lhcgr |
G |
C |
17: 89,079,474 (GRCm39) |
Q71E |
probably benign |
Het |
Lrrc34 |
T |
C |
3: 30,697,491 (GRCm39) |
D80G |
probably damaging |
Het |
Lrrc7 |
C |
A |
3: 157,997,595 (GRCm39) |
E156* |
probably null |
Het |
Lrrc9 |
A |
G |
12: 72,547,590 (GRCm39) |
D1255G |
probably damaging |
Het |
Mcidas |
A |
G |
13: 113,133,416 (GRCm39) |
N116D |
probably benign |
Het |
Mmp7 |
A |
G |
9: 7,697,594 (GRCm39) |
N210D |
probably damaging |
Het |
Morc3 |
A |
G |
16: 93,671,748 (GRCm39) |
D926G |
probably damaging |
Het |
Mrgpra9 |
A |
G |
7: 46,885,385 (GRCm39) |
I94T |
possibly damaging |
Het |
Muc16 |
C |
A |
9: 18,549,038 (GRCm39) |
V5752F |
possibly damaging |
Het |
Myo16 |
A |
T |
8: 10,612,183 (GRCm39) |
D1276V |
unknown |
Het |
Nlrc4 |
T |
G |
17: 74,753,537 (GRCm39) |
E282A |
probably damaging |
Het |
Nos2 |
T |
A |
11: 78,827,297 (GRCm39) |
Y227* |
probably null |
Het |
Obox5 |
A |
C |
7: 15,492,713 (GRCm39) |
M223L |
probably benign |
Het |
Or10ak13 |
C |
A |
4: 118,638,896 (GRCm39) |
L295F |
possibly damaging |
Het |
Pygm |
G |
A |
19: 6,435,966 (GRCm39) |
R139H |
probably damaging |
Het |
Ranbp2 |
C |
A |
10: 58,303,099 (GRCm39) |
P789T |
probably damaging |
Het |
Riok2 |
T |
G |
17: 17,607,501 (GRCm39) |
S350A |
probably benign |
Het |
Rnf214 |
C |
T |
9: 45,778,845 (GRCm39) |
V445I |
possibly damaging |
Het |
Skida1 |
C |
T |
2: 18,051,083 (GRCm39) |
V603I |
unknown |
Het |
Skint6 |
T |
A |
4: 112,755,335 (GRCm39) |
R747S |
probably benign |
Het |
Slc5a10 |
A |
T |
11: 61,564,405 (GRCm39) |
C525S |
probably benign |
Het |
Styxl2 |
A |
G |
1: 165,928,044 (GRCm39) |
S523P |
probably damaging |
Het |
Sult2b1 |
T |
C |
7: 45,380,718 (GRCm39) |
Y288C |
probably damaging |
Het |
Tagln3 |
G |
T |
16: 45,543,440 (GRCm39) |
N67K |
probably damaging |
Het |
Trav21-dv12 |
A |
T |
14: 54,114,162 (GRCm39) |
H94L |
probably benign |
Het |
Tshz2 |
A |
G |
2: 169,726,094 (GRCm39) |
E230G |
probably damaging |
Het |
Usb1 |
T |
A |
8: 96,071,931 (GRCm39) |
H210Q |
probably damaging |
Het |
Vill |
C |
T |
9: 118,899,716 (GRCm39) |
P767L |
probably benign |
Het |
Vmn2r94 |
A |
T |
17: 18,477,603 (GRCm39) |
N269K |
probably benign |
Het |
Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
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 |
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 |
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'- TGGGCCTTTCTAACATAATTGCAC -3'
(R):5'- AAAACATGAATGAGCTTGCTGG -3'
Sequencing Primer
(F):5'- GCCTTTCTAACATAATTGCACATTTG -3'
(R):5'- AAACATGAATGAGCTTGCTGGTTTTG -3'
|
Posted On |
2019-09-13 |