Incidental Mutation 'R8811:Slc24a4'
| ID |
672425 |
| 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 |
068646-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8811 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
102094992-102233350 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102180133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 68
(F68S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079020]
[ENSMUST00000159329]
|
| AlphaFold |
Q8CGQ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079020
AA Change: F68S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078030
Gene: ENSMUSG00000041771
AA Change: F68S
| 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: F85S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124513
Gene: ENSMUSG00000041771
AA Change: F85S
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000125012
Gene: ENSMUSG00000041771
AA Change: F84S
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (54/54) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
G |
17: 24,536,212 (GRCm39) |
K485T |
probably benign |
Het |
| Abcc12 |
G |
T |
8: 87,280,023 (GRCm39) |
L337M |
probably damaging |
Het |
| Adcy4 |
T |
C |
14: 56,010,221 (GRCm39) |
D687G |
probably benign |
Het |
| Aldoc |
T |
A |
11: 78,215,610 (GRCm39) |
I98N |
probably damaging |
Het |
| Aoah |
T |
A |
13: 21,184,121 (GRCm39) |
V395D |
probably damaging |
Het |
| Arap1 |
C |
T |
7: 101,036,403 (GRCm39) |
R397W |
probably damaging |
Het |
| Arl16 |
A |
T |
11: 120,357,526 (GRCm39) |
M63K |
probably damaging |
Het |
| Atf7 |
T |
C |
15: 102,502,144 (GRCm39) |
D4G |
probably damaging |
Het |
| Atp6v0d2 |
A |
T |
4: 19,922,397 (GRCm39) |
V34D |
probably benign |
Het |
| Calhm4 |
T |
A |
10: 33,917,661 (GRCm39) |
K263N |
probably benign |
Het |
| Camk1g |
C |
G |
1: 193,044,408 (GRCm39) |
G2A |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,929,001 (GRCm39) |
T302A |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,253,246 (GRCm39) |
V1246A |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,560,139 (GRCm39) |
D1397G |
|
Het |
| Ddx39b |
T |
A |
17: 35,463,435 (GRCm39) |
S115T |
probably benign |
Het |
| Dnaja3 |
C |
A |
16: 4,514,383 (GRCm39) |
T305K |
probably benign |
Het |
| Dusp7 |
C |
G |
9: 106,248,241 (GRCm39) |
H290D |
probably benign |
Het |
| Emilin2 |
T |
A |
17: 71,582,282 (GRCm39) |
D148V |
possibly damaging |
Het |
| Erbin |
C |
T |
13: 104,022,824 (GRCm39) |
R5Q |
probably damaging |
Het |
| Fam3b |
T |
C |
16: 97,313,715 (GRCm39) |
|
probably benign |
Het |
| Foxn3 |
T |
C |
12: 99,162,951 (GRCm39) |
S317G |
probably benign |
Het |
| Gipc1 |
T |
A |
8: 84,388,919 (GRCm39) |
M177K |
possibly damaging |
Het |
| Grpel2 |
A |
C |
18: 61,851,823 (GRCm39) |
|
probably benign |
Het |
| Htr1a |
G |
C |
13: 105,581,101 (GRCm39) |
A114P |
probably damaging |
Het |
| Iqch |
A |
T |
9: 63,452,195 (GRCm39) |
M210K |
possibly damaging |
Het |
| Kdelr3 |
T |
C |
15: 79,410,052 (GRCm39) |
I179T |
possibly damaging |
Het |
| Lat2 |
C |
T |
5: 134,635,553 (GRCm39) |
|
probably benign |
Het |
| Mcrip1 |
A |
G |
11: 120,435,605 (GRCm39) |
V10A |
probably damaging |
Het |
| Mib1 |
C |
T |
18: 10,755,643 (GRCm39) |
L350F |
probably benign |
Het |
| Nhlrc2 |
T |
A |
19: 56,583,344 (GRCm39) |
V605E |
probably benign |
Het |
| Nup133 |
AAGAGA |
AAGA |
8: 124,638,627 (GRCm39) |
900 |
probably null |
Het |
| Nutm2 |
A |
T |
13: 50,623,989 (GRCm39) |
I229F |
probably benign |
Het |
| Or6f1 |
G |
A |
7: 85,970,989 (GRCm39) |
T57M |
probably damaging |
Het |
| Phkb |
T |
C |
8: 86,745,156 (GRCm39) |
V611A |
possibly damaging |
Het |
| Polg2 |
A |
T |
11: 106,670,208 (GRCm39) |
Y21N |
probably benign |
Het |
| Prss28 |
T |
A |
17: 25,528,627 (GRCm39) |
I23N |
probably benign |
Het |
| Ptprz1 |
G |
A |
6: 23,030,661 (GRCm39) |
V1856I |
probably benign |
Het |
| Slc22a22 |
A |
T |
15: 57,108,237 (GRCm39) |
I526N |
probably damaging |
Het |
| Slc37a3 |
A |
G |
6: 39,322,274 (GRCm39) |
S377P |
probably damaging |
Het |
| Smoc2 |
T |
C |
17: 14,545,896 (GRCm39) |
S62P |
probably damaging |
Het |
| Sox4 |
A |
G |
13: 29,136,911 (GRCm39) |
S32P |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,689,541 (GRCm39) |
Q426L |
|
Het |
| Synrg |
T |
G |
11: 83,910,410 (GRCm39) |
S937A |
probably benign |
Het |
| Tbr1 |
C |
A |
2: 61,642,196 (GRCm39) |
T487K |
possibly damaging |
Het |
| Tll2 |
T |
C |
19: 41,195,012 (GRCm39) |
T25A |
probably benign |
Het |
| Trim31 |
T |
C |
17: 37,210,875 (GRCm39) |
F169S |
probably benign |
Het |
| Tro |
G |
A |
X: 149,438,555 (GRCm39) |
S34L |
unknown |
Het |
| Tspear |
T |
C |
10: 77,665,463 (GRCm39) |
F83S |
probably benign |
Het |
| Ubr5 |
C |
A |
15: 38,041,123 (GRCm39) |
A254S |
|
Het |
| Ubtfl1 |
A |
G |
9: 18,321,459 (GRCm39) |
E329G |
probably benign |
Het |
| Vmn2r45 |
A |
G |
7: 8,474,881 (GRCm39) |
W716R |
probably damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,799,895 (GRCm39) |
M448V |
probably damaging |
Het |
| Wwc2 |
T |
G |
8: 48,336,579 (GRCm39) |
I228L |
possibly damaging |
Het |
| Zbtb20 |
T |
C |
16: 43,430,857 (GRCm39) |
V383A |
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 |
|
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 |
|
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'- TTAGTACCAGTCTGCCCAGC -3'
(R):5'- GTTACAAGCTCAGACATTGTATGG -3'
Sequencing Primer
(F):5'- TCTGCCCAGCGCTGAGATC -3'
(R):5'- GGGTTGCAACTCCAATGATC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation