Incidental Mutation 'IGL02449:Slc24a4'
ID |
294082 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02449
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
102094992-102233350 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 102193341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 226
(I226L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124513
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079020]
[ENSMUST00000159329]
|
AlphaFold |
Q8CGQ8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079020
AA Change: I209L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000078030 Gene: ENSMUSG00000041771 AA Change: I209L
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 benign
Transcript: ENSMUST00000159329
AA Change: I226L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000124513 Gene: ENSMUSG00000041771 AA Change: I226L
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: I225L
|
SMART Domains |
Protein: ENSMUSP00000125012 Gene: ENSMUSG00000041771 AA Change: I225L
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 |
|
Coding Region Coverage |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,440,908 (GRCm39) |
|
probably null |
Het |
Akap6 |
A |
G |
12: 53,186,971 (GRCm39) |
T1462A |
probably damaging |
Het |
Arl6ip6 |
T |
C |
2: 53,082,538 (GRCm39) |
|
probably benign |
Het |
Ascc3 |
A |
T |
10: 50,576,695 (GRCm39) |
Q883H |
probably benign |
Het |
Atp11a |
T |
A |
8: 12,807,358 (GRCm39) |
|
probably null |
Het |
Cds1 |
G |
A |
5: 101,963,794 (GRCm39) |
G371D |
probably damaging |
Het |
Col12a1 |
A |
G |
9: 79,548,751 (GRCm39) |
L2198P |
probably damaging |
Het |
Cyp2d22 |
C |
T |
15: 82,257,442 (GRCm39) |
G241D |
probably benign |
Het |
Dapk1 |
T |
C |
13: 60,867,584 (GRCm39) |
|
probably benign |
Het |
Dera |
T |
A |
6: 137,757,815 (GRCm39) |
|
probably null |
Het |
Efcab6 |
A |
G |
15: 83,894,234 (GRCm39) |
V186A |
probably benign |
Het |
Gm9637 |
T |
A |
14: 19,402,436 (GRCm38) |
|
noncoding transcript |
Het |
Gpr180 |
T |
C |
14: 118,397,532 (GRCm39) |
L342P |
probably damaging |
Het |
Heg1 |
T |
C |
16: 33,559,095 (GRCm39) |
|
probably null |
Het |
Kcnab2 |
C |
A |
4: 152,496,441 (GRCm39) |
|
probably null |
Het |
Lax1 |
A |
G |
1: 133,607,874 (GRCm39) |
V289A |
probably damaging |
Het |
Ly6k |
T |
G |
15: 74,668,934 (GRCm39) |
D115A |
probably benign |
Het |
Mcc |
A |
C |
18: 44,593,025 (GRCm39) |
I670S |
probably benign |
Het |
Mpdz |
C |
A |
4: 81,247,659 (GRCm39) |
|
probably null |
Het |
Mrgprb8 |
T |
A |
7: 48,038,431 (GRCm39) |
L34* |
probably null |
Het |
Mtor |
T |
A |
4: 148,618,378 (GRCm39) |
H1730Q |
possibly damaging |
Het |
Muc4 |
C |
T |
16: 32,576,503 (GRCm39) |
|
probably benign |
Het |
Myh8 |
T |
C |
11: 67,185,440 (GRCm39) |
|
probably null |
Het |
Naip5 |
A |
T |
13: 100,358,683 (GRCm39) |
V851E |
probably benign |
Het |
Neb |
T |
C |
2: 52,091,918 (GRCm39) |
I1277V |
probably benign |
Het |
Nlrp9a |
T |
C |
7: 26,264,396 (GRCm39) |
M683T |
probably benign |
Het |
Npr2 |
A |
G |
4: 43,646,641 (GRCm39) |
Y663C |
probably damaging |
Het |
Padi3 |
C |
T |
4: 140,517,023 (GRCm39) |
|
probably null |
Het |
Pclo |
A |
G |
5: 14,565,357 (GRCm39) |
D41G |
probably damaging |
Het |
Pds5a |
A |
T |
5: 65,776,353 (GRCm39) |
N80K |
probably damaging |
Het |
Plec |
C |
T |
15: 76,070,963 (GRCm39) |
D812N |
possibly damaging |
Het |
Psg20 |
A |
T |
7: 18,418,333 (GRCm39) |
|
probably benign |
Het |
Ptch2 |
C |
A |
4: 116,965,380 (GRCm39) |
L322I |
possibly damaging |
Het |
Ptprv |
T |
C |
1: 135,039,074 (GRCm39) |
|
noncoding transcript |
Het |
Scn2b |
A |
G |
9: 45,036,812 (GRCm39) |
K107E |
probably damaging |
Het |
Spink4 |
A |
G |
4: 40,929,190 (GRCm39) |
M72V |
probably benign |
Het |
Supt16 |
A |
T |
14: 52,411,263 (GRCm39) |
M676K |
possibly damaging |
Het |
Svep1 |
A |
C |
4: 58,070,296 (GRCm39) |
C2497G |
possibly damaging |
Het |
Tenm2 |
T |
A |
11: 35,914,449 (GRCm39) |
T2362S |
probably damaging |
Het |
Tgm3 |
G |
T |
2: 129,880,529 (GRCm39) |
|
probably null |
Het |
Trpa1 |
T |
A |
1: 14,968,381 (GRCm39) |
T462S |
probably damaging |
Het |
Ucp2 |
G |
A |
7: 100,148,017 (GRCm39) |
V237M |
probably damaging |
Het |
Vmn2r53 |
C |
A |
7: 12,316,288 (GRCm39) |
L510F |
probably damaging |
Het |
Zan |
G |
A |
5: 137,387,589 (GRCm39) |
T4874M |
unknown |
Het |
Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
Zfp974 |
T |
A |
7: 27,611,152 (GRCm39) |
Y191F |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |