Incidental Mutation 'R3620:Slc24a4'
| ID |
268613 |
| 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 # |
R3620 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 95.4%
|
| Validation Efficiency |
100% (44/44) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,226,864 (GRCm39) |
M473T |
probably benign |
Het |
| Asxl1 |
C |
A |
2: 153,199,075 (GRCm39) |
R76S |
probably damaging |
Het |
| Bhlhe41 |
C |
A |
6: 145,808,733 (GRCm39) |
G360C |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,380,227 (GRCm39) |
I201T |
probably benign |
Het |
| Ccng1 |
T |
C |
11: 40,642,992 (GRCm39) |
T152A |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,962,928 (GRCm39) |
V648A |
probably benign |
Het |
| Cldn16 |
T |
A |
16: 26,296,302 (GRCm39) |
F93I |
possibly damaging |
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 |
| Fah |
T |
C |
7: 84,238,159 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
T |
11: 55,147,521 (GRCm39) |
V3907D |
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 |
| Gramd1b |
C |
A |
9: 40,366,842 (GRCm39) |
R42L |
probably benign |
Het |
| H2bc9 |
C |
A |
13: 23,727,324 (GRCm39) |
V67L |
probably benign |
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 |
| Igsf10 |
T |
G |
3: 59,243,752 (GRCm39) |
D194A |
probably damaging |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Lrpprc |
A |
T |
17: 85,077,452 (GRCm39) |
C412S |
probably benign |
Het |
| Mga |
T |
A |
2: 119,747,149 (GRCm39) |
D433E |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,369,468 (GRCm39) |
S743C |
possibly damaging |
Het |
| Myo15b |
T |
G |
11: 115,762,013 (GRCm39) |
L1176R |
possibly damaging |
Het |
| Ndor1 |
T |
C |
2: 25,138,047 (GRCm39) |
Q526R |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,362,508 (GRCm39) |
I1429T |
probably damaging |
Het |
| Or1d2 |
T |
A |
11: 74,256,050 (GRCm39) |
L185Q |
probably damaging |
Het |
| Or4c126 |
T |
C |
2: 89,824,196 (GRCm39) |
I153T |
probably damaging |
Het |
| Or4k38 |
T |
A |
2: 111,165,689 (GRCm39) |
I245L |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,710,232 (GRCm39) |
D619G |
probably damaging |
Het |
| Pa2g4 |
C |
G |
10: 128,399,464 (GRCm39) |
E67Q |
probably damaging |
Het |
| Pnpla1 |
C |
T |
17: 29,096,362 (GRCm39) |
A147V |
probably damaging |
Het |
| Prdm13 |
A |
G |
4: 21,683,532 (GRCm39) |
Y143H |
unknown |
Het |
| Rad23a |
A |
G |
8: 85,567,193 (GRCm39) |
M1T |
probably null |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Slc10a2 |
A |
T |
8: 5,154,909 (GRCm39) |
I92N |
probably damaging |
Het |
| Sox11 |
T |
C |
12: 27,391,735 (GRCm39) |
T225A |
probably benign |
Het |
| Thbs1 |
T |
C |
2: 117,951,640 (GRCm39) |
V820A |
probably benign |
Het |
| Unc45a |
G |
T |
7: 79,983,799 (GRCm39) |
N332K |
possibly damaging |
Het |
| Vmn1r159 |
A |
C |
7: 22,542,258 (GRCm39) |
I258S |
possibly damaging |
Het |
| Wdr31 |
A |
T |
4: 62,375,701 (GRCm39) |
F251L |
possibly damaging |
Het |
| Wdr43 |
C |
T |
17: 71,957,601 (GRCm39) |
T530M |
probably benign |
Het |
| Zfp445 |
C |
T |
9: 122,681,833 (GRCm39) |
A703T |
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 |
|
|
R3621: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'- CTGTATTTCATACTCTGCGACAGTG -3'
(R):5'- AGAGTGCTTCCTGTCCCATC -3'
Sequencing Primer
(F):5'- TCTGCGACAGTGCTGAGAG -3'
(R):5'- GTGCTTCCTGTCCCATCTGACC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation