Incidental Mutation 'R3900:Slc24a1'
| ID |
308938 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc24a1
|
| Ensembl Gene |
ENSMUSG00000034452 |
| Gene Name |
solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 |
| Synonyms |
|
| MMRRC Submission |
041607-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R3900 (G1)
|
| Quality Score |
147 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
64830143-64858889 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64835426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 900
(S900R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037798]
|
| AlphaFold |
Q91WD8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037798
AA Change: S900R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035616
Gene: ENSMUSG00000034452
AA Change: S900R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
425 |
569 |
1.7e-28 |
PFAM |
|
low complexity region
|
683 |
699 |
N/A |
INTRINSIC |
|
coiled coil region
|
747 |
776 |
N/A |
INTRINSIC |
|
coiled coil region
|
818 |
847 |
N/A |
INTRINSIC |
|
coiled coil region
|
898 |
928 |
N/A |
INTRINSIC |
|
transmembrane domain
|
939 |
956 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
967 |
1118 |
1.7e-33 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (45/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a null allele display slow progressive retinal degeneration and develop stationary night blindness. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
A |
T |
13: 54,700,781 (GRCm39) |
S212R |
probably damaging |
Het |
| AI182371 |
T |
C |
2: 34,975,228 (GRCm39) |
I334V |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,488,973 (GRCm39) |
S372P |
probably benign |
Het |
| Apc2 |
C |
A |
10: 80,131,806 (GRCm39) |
|
probably null |
Het |
| Bcl6 |
T |
G |
16: 23,796,304 (GRCm39) |
E41A |
possibly damaging |
Het |
| Brpf1 |
A |
G |
6: 113,295,394 (GRCm39) |
I674V |
probably benign |
Het |
| Cherp |
A |
G |
8: 73,223,780 (GRCm39) |
I201T |
possibly damaging |
Het |
| Cluh |
A |
G |
11: 74,557,930 (GRCm39) |
H1056R |
probably benign |
Het |
| Csgalnact2 |
A |
T |
6: 118,097,975 (GRCm39) |
F122I |
probably damaging |
Het |
| Cubn |
C |
A |
2: 13,291,791 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
A |
T |
11: 117,985,634 (GRCm39) |
I1481N |
possibly damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,305,510 (GRCm39) |
Y1561C |
probably damaging |
Het |
| Elfn1 |
G |
A |
5: 139,957,719 (GRCm39) |
R241H |
probably damaging |
Het |
| Eml5 |
G |
A |
12: 98,791,782 (GRCm39) |
R1245C |
probably damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,841,006 (GRCm39) |
K172E |
possibly damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gm6133 |
A |
G |
18: 78,393,365 (GRCm39) |
N120D |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igsf9 |
T |
C |
1: 172,317,125 (GRCm39) |
L35P |
probably damaging |
Het |
| Khdc3 |
T |
C |
9: 73,011,628 (GRCm39) |
|
probably benign |
Het |
| Mmrn2 |
G |
T |
14: 34,121,517 (GRCm39) |
|
probably null |
Het |
| Mrgpra1 |
G |
T |
7: 46,985,275 (GRCm39) |
R135S |
possibly damaging |
Het |
| Or4c11b |
A |
T |
2: 88,625,273 (GRCm39) |
L182F |
possibly damaging |
Het |
| Or8g2b |
A |
G |
9: 39,750,698 (GRCm39) |
|
probably null |
Het |
| Otud3 |
T |
C |
4: 138,624,196 (GRCm39) |
N282S |
probably benign |
Het |
| Prkar1a |
A |
G |
11: 109,551,901 (GRCm39) |
K130R |
probably benign |
Het |
| Rd3 |
T |
C |
1: 191,717,217 (GRCm39) |
V114A |
probably damaging |
Het |
| Rictor |
T |
G |
15: 6,818,954 (GRCm39) |
D1392E |
probably benign |
Het |
| Setd2 |
C |
T |
9: 110,421,586 (GRCm39) |
R273W |
probably damaging |
Het |
| Slc22a18 |
C |
A |
7: 143,033,507 (GRCm39) |
A86E |
probably damaging |
Het |
| Smarcc1 |
T |
C |
9: 109,947,586 (GRCm39) |
|
probably benign |
Het |
| Smoc1 |
T |
C |
12: 81,214,287 (GRCm39) |
V234A |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,544,030 (GRCm39) |
T4443A |
possibly damaging |
Het |
| Timp2 |
C |
T |
11: 118,194,542 (GRCm39) |
D139N |
probably damaging |
Het |
| Trim69 |
A |
G |
2: 122,009,322 (GRCm39) |
T461A |
probably benign |
Het |
| Ubash3b |
C |
T |
9: 40,942,860 (GRCm39) |
D211N |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,206,373 (GRCm39) |
|
probably null |
Het |
| Ubr5 |
T |
C |
15: 38,019,486 (GRCm39) |
D752G |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,580,264 (GRCm39) |
I633N |
possibly damaging |
Het |
| Usp36 |
T |
A |
11: 118,170,650 (GRCm39) |
D28V |
possibly damaging |
Het |
| Wdr6 |
G |
A |
9: 108,452,968 (GRCm39) |
A305V |
probably damaging |
Het |
| Zfp248 |
T |
C |
6: 118,406,527 (GRCm39) |
N253S |
probably damaging |
Het |
|
| Other mutations in Slc24a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Slc24a1
|
APN |
9 |
64,835,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01602:Slc24a1
|
APN |
9 |
64,833,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03111:Slc24a1
|
APN |
9 |
64,833,608 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0092:Slc24a1
|
UTSW |
9 |
64,856,034 (GRCm39) |
missense |
unknown |
|
|
R0708:Slc24a1
|
UTSW |
9 |
64,855,172 (GRCm39) |
missense |
unknown |
|
|
R0827:Slc24a1
|
UTSW |
9 |
64,835,472 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1294:Slc24a1
|
UTSW |
9 |
64,843,295 (GRCm39) |
missense |
unknown |
|
|
R1613:Slc24a1
|
UTSW |
9 |
64,855,978 (GRCm39) |
missense |
unknown |
|
|
R2858:Slc24a1
|
UTSW |
9 |
64,856,614 (GRCm39) |
missense |
unknown |
|
|
R3779:Slc24a1
|
UTSW |
9 |
64,855,579 (GRCm39) |
missense |
unknown |
|
|
R3899:Slc24a1
|
UTSW |
9 |
64,835,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4409:Slc24a1
|
UTSW |
9 |
64,855,506 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4732:Slc24a1
|
UTSW |
9 |
64,856,836 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4733:Slc24a1
|
UTSW |
9 |
64,856,836 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4745:Slc24a1
|
UTSW |
9 |
64,856,758 (GRCm39) |
missense |
unknown |
|
|
R4915:Slc24a1
|
UTSW |
9 |
64,855,213 (GRCm39) |
missense |
unknown |
|
|
R5371:Slc24a1
|
UTSW |
9 |
64,856,550 (GRCm39) |
missense |
unknown |
|
|
R5448:Slc24a1
|
UTSW |
9 |
64,855,609 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5540:Slc24a1
|
UTSW |
9 |
64,855,863 (GRCm39) |
missense |
unknown |
|
|
R5863:Slc24a1
|
UTSW |
9 |
64,835,824 (GRCm39) |
missense |
unknown |
|
|
R6161:Slc24a1
|
UTSW |
9 |
64,844,545 (GRCm39) |
missense |
unknown |
|
|
R6810:Slc24a1
|
UTSW |
9 |
64,855,605 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7215:Slc24a1
|
UTSW |
9 |
64,835,785 (GRCm39) |
missense |
unknown |
|
|
R7380:Slc24a1
|
UTSW |
9 |
64,855,815 (GRCm39) |
missense |
unknown |
|
|
R7453:Slc24a1
|
UTSW |
9 |
64,856,583 (GRCm39) |
missense |
unknown |
|
|
R7466:Slc24a1
|
UTSW |
9 |
64,835,686 (GRCm39) |
missense |
unknown |
|
|
R7488:Slc24a1
|
UTSW |
9 |
64,831,764 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7672:Slc24a1
|
UTSW |
9 |
64,855,209 (GRCm39) |
missense |
unknown |
|
|
R7939:Slc24a1
|
UTSW |
9 |
64,835,648 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7984:Slc24a1
|
UTSW |
9 |
64,856,811 (GRCm39) |
nonsense |
probably null |
|
|
R8097:Slc24a1
|
UTSW |
9 |
64,831,734 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8724:Slc24a1
|
UTSW |
9 |
64,855,453 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8812:Slc24a1
|
UTSW |
9 |
64,835,985 (GRCm39) |
missense |
unknown |
|
|
R9122:Slc24a1
|
UTSW |
9 |
64,834,478 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9252:Slc24a1
|
UTSW |
9 |
64,835,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0063:Slc24a1
|
UTSW |
9 |
64,856,425 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTAGATGCTCTCACCTGCC -3'
(R):5'- ACTGAGGCAGAAGGAAAAGAA -3'
Sequencing Primer
(F):5'- TCCGTACATCAGGTATTGTCAG -3'
(R):5'- TTGAACAAGAAAGGGAAACTGAGGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation