Incidental Mutation 'R6305:Slc24a4'
ID |
509615 |
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 |
MMRRC Submission |
044411-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6305 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
102094992-102233350 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 102188360 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 151
(T151K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124513
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079020]
[ENSMUST00000159329]
|
AlphaFold |
Q8CGQ8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079020
AA Change: T134K
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000078030 Gene: ENSMUSG00000041771 AA Change: T134K
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 |
possibly damaging
Transcript: ENSMUST00000159329
AA Change: T151K
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124513 Gene: ENSMUSG00000041771 AA Change: T151K
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: T150K
|
SMART Domains |
Protein: ENSMUSP00000125012 Gene: ENSMUSG00000041771 AA Change: T150K
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 |
0.3442 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
97% (61/63) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
C |
3: 137,773,741 (GRCm39) |
S977P |
probably damaging |
Het |
Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
Adcy6 |
T |
A |
15: 98,496,526 (GRCm39) |
I550L |
probably benign |
Het |
Agbl3 |
G |
A |
6: 34,759,145 (GRCm39) |
D19N |
unknown |
Het |
Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
Arhgap39 |
T |
A |
15: 76,621,902 (GRCm39) |
D233V |
probably benign |
Het |
Bcl9 |
G |
A |
3: 97,113,254 (GRCm39) |
P1067L |
possibly damaging |
Het |
Casd1 |
C |
T |
6: 4,641,892 (GRCm39) |
T723I |
probably damaging |
Het |
Cd209g |
T |
A |
8: 4,186,809 (GRCm39) |
I118N |
probably benign |
Het |
Cdh24 |
A |
T |
14: 54,869,813 (GRCm39) |
D701E |
possibly damaging |
Het |
Chd9 |
C |
T |
8: 91,757,174 (GRCm39) |
P1858S |
possibly damaging |
Het |
Csnk1g3 |
T |
A |
18: 54,065,384 (GRCm39) |
Y322* |
probably null |
Het |
Cyp2f2 |
G |
A |
7: 26,828,649 (GRCm39) |
R173H |
probably damaging |
Het |
D130043K22Rik |
T |
C |
13: 25,069,668 (GRCm39) |
F909S |
probably damaging |
Het |
Dll4 |
T |
A |
2: 119,161,138 (GRCm39) |
S299T |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dsg4 |
T |
A |
18: 20,582,847 (GRCm39) |
Y162N |
probably damaging |
Het |
Enpp1 |
T |
C |
10: 24,517,780 (GRCm39) |
Y882C |
probably damaging |
Het |
Fbxw7 |
T |
A |
3: 84,883,630 (GRCm39) |
N520K |
probably damaging |
Het |
Galc |
C |
T |
12: 98,225,549 (GRCm39) |
A14T |
possibly damaging |
Het |
Grm7 |
G |
A |
6: 111,335,626 (GRCm39) |
R679Q |
probably damaging |
Het |
Hnrnpdl |
T |
C |
5: 100,186,517 (GRCm39) |
|
probably benign |
Het |
Il12a |
A |
T |
3: 68,601,511 (GRCm39) |
K77N |
possibly damaging |
Het |
Il17rd |
C |
T |
14: 26,817,899 (GRCm39) |
S196L |
possibly damaging |
Het |
Kcnv2 |
T |
C |
19: 27,301,237 (GRCm39) |
F363L |
probably benign |
Het |
Lair1 |
A |
G |
7: 4,013,727 (GRCm39) |
|
probably null |
Het |
Lrit3 |
G |
A |
3: 129,594,109 (GRCm39) |
T156I |
probably damaging |
Het |
Me2 |
T |
A |
18: 73,924,915 (GRCm39) |
R267S |
probably benign |
Het |
Mga |
T |
C |
2: 119,778,179 (GRCm39) |
V1908A |
probably benign |
Het |
Mylk3 |
T |
A |
8: 86,077,048 (GRCm39) |
I463F |
probably damaging |
Het |
Neb |
G |
A |
2: 52,141,775 (GRCm39) |
R75* |
probably null |
Het |
Niban1 |
T |
C |
1: 151,571,469 (GRCm39) |
L248P |
probably damaging |
Het |
Or10a3b |
C |
T |
7: 108,444,761 (GRCm39) |
G152D |
possibly damaging |
Het |
Or1j11 |
T |
A |
2: 36,311,634 (GRCm39) |
S75T |
probably damaging |
Het |
Or5p50 |
T |
G |
7: 107,421,864 (GRCm39) |
T271P |
probably benign |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Or8b36 |
TG |
TGGTGTTGG |
9: 37,937,838 (GRCm39) |
|
probably null |
Het |
Or8k33 |
A |
G |
2: 86,383,839 (GRCm39) |
S210P |
possibly damaging |
Het |
Pfas |
A |
G |
11: 68,892,023 (GRCm39) |
S162P |
possibly damaging |
Het |
Pip5k1c |
T |
A |
10: 81,151,768 (GRCm39) |
V654E |
probably benign |
Het |
Plxdc1 |
C |
A |
11: 97,829,416 (GRCm39) |
C318F |
probably damaging |
Het |
Qrfprl |
A |
T |
6: 65,431,975 (GRCm39) |
M293L |
probably benign |
Het |
Rbm8a2 |
T |
C |
1: 175,806,312 (GRCm39) |
D55G |
probably benign |
Het |
Rexo5 |
A |
T |
7: 119,427,348 (GRCm39) |
K419N |
probably damaging |
Het |
Septin4 |
C |
T |
11: 87,458,145 (GRCm39) |
T173M |
probably benign |
Het |
Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
Slc6a15 |
A |
T |
10: 103,225,031 (GRCm39) |
I40F |
probably benign |
Het |
Slc6a21 |
T |
C |
7: 44,930,028 (GRCm39) |
V172A |
possibly damaging |
Het |
Thrap3 |
A |
G |
4: 126,074,600 (GRCm39) |
|
probably benign |
Het |
Tm9sf3 |
A |
G |
19: 41,233,881 (GRCm39) |
|
probably null |
Het |
Trp53 |
A |
T |
11: 69,479,533 (GRCm39) |
H211L |
probably damaging |
Het |
Ttc21b |
A |
T |
2: 66,018,614 (GRCm39) |
N1264K |
probably damaging |
Het |
Vmn1r120 |
A |
T |
7: 20,787,531 (GRCm39) |
V60E |
possibly damaging |
Het |
Ylpm1 |
A |
G |
12: 85,077,319 (GRCm39) |
E890G |
probably damaging |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
Zfp934 |
T |
C |
13: 62,666,370 (GRCm39) |
Y102C |
probably damaging |
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 |
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 |
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'- AGGCTCAGATCCACACTGTGTC -3'
(R):5'- AACCAGTTCCTTCCATGCAC -3'
Sequencing Primer
(F):5'- GATCCACACTGTGTCACTGAGAG -3'
(R):5'- AAGTCTTCAGGCTTGCACAG -3'
|
Posted On |
2018-04-02 |