Incidental Mutation 'R3621:Slc24a4'
| ID |
268643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc24a4
|
| Ensembl Gene |
ENSMUSG00000041771 |
| Gene Name |
solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 |
| Synonyms |
NCKX4, A930002M03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3621 (G1)
|
| Quality Score |
207 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
102094992-102233350 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102185222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 111
(F111L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079020]
[ENSMUST00000159329]
|
| AlphaFold |
Q8CGQ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079020
AA Change: F94L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078030
Gene: ENSMUSG00000041771
AA Change: F94L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
86 |
229 |
2.4e-31 |
PFAM |
|
low complexity region
|
367 |
388 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
435 |
587 |
2.4e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159329
AA Change: F111L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124513
Gene: ENSMUSG00000041771
AA Change: F111L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
113 |
245 |
1e-32 |
PFAM |
|
low complexity region
|
365 |
386 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
443 |
562 |
1.4e-21 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161325
AA Change: F110L
|
| SMART Domains |
Protein: ENSMUSP00000125012
Gene: ENSMUSG00000041771
AA Change: F110L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
103 |
246 |
1.3e-31 |
PFAM |
|
low complexity region
|
365 |
386 |
N/A |
INTRINSIC |
|
Pfam:Na_Ca_ex
|
433 |
585 |
1.3e-30 |
PFAM |
|
| Meta Mutation Damage Score |
0.4847 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired olfactory response and reduced weight. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
G |
19: 57,140,735 (GRCm39) |
S161P |
probably damaging |
Het |
| Atp8a2 |
C |
A |
14: 60,263,587 (GRCm39) |
|
probably null |
Het |
| Baz2a |
AGCGGCGGTACTTGCGGG |
AG |
10: 127,960,946 (GRCm39) |
|
probably null |
Het |
| Cep192 |
T |
C |
18: 67,962,928 (GRCm39) |
V648A |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,042,684 (GRCm39) |
S2350G |
probably benign |
Het |
| Enpp6 |
T |
C |
8: 47,518,540 (GRCm39) |
W223R |
probably benign |
Het |
| Erich3 |
T |
C |
3: 154,454,369 (GRCm39) |
Y515H |
possibly damaging |
Het |
| Fam118a |
T |
C |
15: 84,930,002 (GRCm39) |
F77L |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,810,602 (GRCm39) |
T2307K |
probably benign |
Het |
| Gcg |
T |
C |
2: 62,307,279 (GRCm39) |
E94G |
probably damaging |
Het |
| Hdc |
T |
A |
2: 126,458,187 (GRCm39) |
Y45F |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hspa8 |
A |
T |
9: 40,713,219 (GRCm39) |
M1L |
probably damaging |
Het |
| Ilvbl |
G |
A |
10: 78,413,014 (GRCm39) |
V179M |
probably damaging |
Het |
| Mettl4 |
T |
C |
17: 95,042,936 (GRCm39) |
Y300C |
probably damaging |
Het |
| Or7d10 |
T |
C |
9: 19,832,209 (GRCm39) |
Y235H |
probably damaging |
Het |
| Otogl |
T |
C |
10: 107,710,232 (GRCm39) |
D619G |
probably damaging |
Het |
| Pnpla1 |
C |
T |
17: 29,096,362 (GRCm39) |
A147V |
probably damaging |
Het |
| Tep1 |
G |
A |
14: 51,066,477 (GRCm39) |
R2328C |
probably damaging |
Het |
| Thbs1 |
T |
C |
2: 117,951,640 (GRCm39) |
V820A |
probably benign |
Het |
| Timd2 |
G |
A |
11: 46,569,040 (GRCm39) |
T206I |
probably benign |
Het |
| Zfp445 |
C |
T |
9: 122,681,833 (GRCm39) |
A703T |
probably benign |
Het |
| Zpbp2 |
A |
G |
11: 98,443,382 (GRCm39) |
T18A |
probably benign |
Het |
|
| Other mutations in Slc24a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01358:Slc24a4
|
APN |
12 |
102,189,894 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01724:Slc24a4
|
APN |
12 |
102,185,219 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01767:Slc24a4
|
APN |
12 |
102,189,946 (GRCm39) |
splice site |
probably benign |
|
|
IGL01814:Slc24a4
|
APN |
12 |
102,220,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02047:Slc24a4
|
APN |
12 |
102,220,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02449:Slc24a4
|
APN |
12 |
102,193,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02632:Slc24a4
|
APN |
12 |
102,200,941 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03251:Slc24a4
|
APN |
12 |
102,189,084 (GRCm39) |
missense |
probably damaging |
0.98 |
|
spindly
|
UTSW |
12 |
102,231,203 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0207:Slc24a4
|
UTSW |
12 |
102,195,210 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0284:Slc24a4
|
UTSW |
12 |
102,226,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0506:Slc24a4
|
UTSW |
12 |
102,097,882 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1903:Slc24a4
|
UTSW |
12 |
102,097,876 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2004:Slc24a4
|
UTSW |
12 |
102,180,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Slc24a4
|
UTSW |
12 |
102,189,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2518:Slc24a4
|
UTSW |
12 |
102,188,310 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3498:Slc24a4
|
UTSW |
12 |
102,200,951 (GRCm39) |
missense |
probably benign |
|
|
R3620:Slc24a4
|
UTSW |
12 |
102,185,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Slc24a4
|
UTSW |
12 |
102,231,203 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5028:Slc24a4
|
UTSW |
12 |
102,230,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5886:Slc24a4
|
UTSW |
12 |
102,226,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5914:Slc24a4
|
UTSW |
12 |
102,201,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6257:Slc24a4
|
UTSW |
12 |
102,220,769 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6305:Slc24a4
|
UTSW |
12 |
102,188,360 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6313:Slc24a4
|
UTSW |
12 |
102,220,769 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6734:Slc24a4
|
UTSW |
12 |
102,185,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7378:Slc24a4
|
UTSW |
12 |
102,205,435 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7419:Slc24a4
|
UTSW |
12 |
102,193,350 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7529:Slc24a4
|
UTSW |
12 |
102,230,707 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7715:Slc24a4
|
UTSW |
12 |
102,185,219 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7781:Slc24a4
|
UTSW |
12 |
102,201,112 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8258:Slc24a4
|
UTSW |
12 |
102,220,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8259:Slc24a4
|
UTSW |
12 |
102,220,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8766:Slc24a4
|
UTSW |
12 |
102,196,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8811:Slc24a4
|
UTSW |
12 |
102,180,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9229:Slc24a4
|
UTSW |
12 |
102,200,983 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9339:Slc24a4
|
UTSW |
12 |
102,230,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9599:Slc24a4
|
UTSW |
12 |
102,097,779 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9680:Slc24a4
|
UTSW |
12 |
102,193,334 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1176:Slc24a4
|
UTSW |
12 |
102,205,497 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Slc24a4
|
UTSW |
12 |
102,195,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Slc24a4
|
UTSW |
12 |
102,226,679 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCTGTATTTCATACTCTGCGAC -3'
(R):5'- AGAGTGCTTCCTGTCCCATC -3'
Sequencing Primer
(F):5'- ATACTCTGCGACAGTGCTG -3'
(R):5'- GTGCTTCCTGTCCCATCTGACC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation