Incidental Mutation 'R8258:Slc24a4'
| ID |
640086 |
| 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 |
067684-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8258 (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 102220928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 455
(V455A)
|
| 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: V455A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078030
Gene: ENSMUSG00000041771
AA Change: V455A
| 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: V453A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124513
Gene: ENSMUSG00000041771
AA Change: V453A
| 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: V452A
| 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: 99.2%
|
| Validation Efficiency |
100% (55/55) |
| 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 |
|---|
| Abcg5 |
T |
G |
17: 84,983,523 (GRCm39) |
T144P |
possibly damaging |
Het |
| Adhfe1 |
A |
G |
1: 9,628,417 (GRCm39) |
N263S |
probably null |
Het |
| Aebp2 |
A |
T |
6: 140,583,453 (GRCm39) |
Q309L |
possibly damaging |
Het |
| Akap7 |
A |
G |
10: 25,047,054 (GRCm39) |
Y281H |
probably damaging |
Het |
| Atg2a |
G |
A |
19: 6,299,859 (GRCm39) |
A588T |
probably damaging |
Het |
| Calcoco1 |
T |
C |
15: 102,624,228 (GRCm39) |
D236G |
probably damaging |
Het |
| Camsap2 |
A |
T |
1: 136,208,077 (GRCm39) |
D470E |
probably benign |
Het |
| Capn8 |
G |
T |
1: 182,392,698 (GRCm39) |
V25L |
probably benign |
Het |
| Card10 |
A |
G |
15: 78,660,884 (GRCm39) |
V1041A |
probably damaging |
Het |
| Ccr1 |
T |
A |
9: 123,764,119 (GRCm39) |
H137L |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,151,435 (GRCm39) |
D2483E |
probably damaging |
Het |
| Chd2 |
G |
T |
7: 73,085,532 (GRCm39) |
Q1701K |
probably benign |
Het |
| Cimap2 |
C |
T |
4: 106,448,859 (GRCm39) |
G400S |
probably damaging |
Het |
| Ckmt2 |
T |
A |
13: 92,007,335 (GRCm39) |
R286S |
probably damaging |
Het |
| Cyp27a1 |
A |
T |
1: 74,771,214 (GRCm39) |
D133V |
probably benign |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Eml1 |
A |
T |
12: 108,476,458 (GRCm39) |
I283F |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,901,887 (GRCm39) |
V3046A |
possibly damaging |
Het |
| Fbxw20 |
A |
G |
9: 109,063,763 (GRCm39) |
V3A |
probably benign |
Het |
| Fcgr2b |
A |
G |
1: 170,795,702 (GRCm39) |
S76P |
possibly damaging |
Het |
| Fgg |
C |
T |
3: 82,917,477 (GRCm39) |
Q169* |
probably null |
Het |
| Ggt5 |
G |
A |
10: 75,450,666 (GRCm39) |
V558I |
probably benign |
Het |
| Gm4779 |
G |
C |
X: 100,837,390 (GRCm39) |
T171S |
possibly damaging |
Het |
| Incenp |
A |
G |
19: 9,870,993 (GRCm39) |
L212P |
unknown |
Het |
| Incenp |
G |
C |
19: 9,871,005 (GRCm39) |
T208R |
unknown |
Het |
| Mctp1 |
T |
A |
13: 76,949,666 (GRCm39) |
|
probably null |
Het |
| Megf8 |
T |
C |
7: 25,057,848 (GRCm39) |
M2095T |
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,941,391 (GRCm39) |
V308I |
probably benign |
Het |
| Muc1 |
T |
A |
3: 89,139,341 (GRCm39) |
H580Q |
probably damaging |
Het |
| Naip6 |
A |
T |
13: 100,452,920 (GRCm39) |
M47K |
probably benign |
Het |
| Nrxn1 |
C |
A |
17: 90,471,249 (GRCm39) |
R1260L |
probably damaging |
Het |
| Nynrin |
A |
G |
14: 56,100,815 (GRCm39) |
I202V |
possibly damaging |
Het |
| Or14j7 |
T |
C |
17: 38,234,847 (GRCm39) |
L130P |
probably damaging |
Het |
| Or5ac17 |
T |
C |
16: 59,036,458 (GRCm39) |
I173V |
probably benign |
Het |
| Or5b98 |
T |
C |
19: 12,931,727 (GRCm39) |
M258T |
possibly damaging |
Het |
| Pard3 |
G |
A |
8: 128,098,021 (GRCm39) |
W354* |
probably null |
Het |
| Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,166,677 (GRCm39) |
V417A |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,189,672 (GRCm39) |
R3052G |
unknown |
Het |
| Prx |
T |
C |
7: 27,218,808 (GRCm39) |
L1242P |
probably damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,707,633 (GRCm39) |
I183T |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,291,755 (GRCm39) |
E254G |
probably benign |
Het |
| Rhot2 |
C |
A |
17: 26,058,864 (GRCm39) |
R512L |
probably benign |
Het |
| Rpa1 |
T |
C |
11: 75,193,550 (GRCm39) |
N594D |
probably benign |
Het |
| Rxfp2 |
T |
A |
5: 149,983,365 (GRCm39) |
I300K |
probably damaging |
Het |
| Scarf1 |
T |
A |
11: 75,414,689 (GRCm39) |
S486T |
probably damaging |
Het |
| Slitrk1 |
A |
G |
14: 109,148,653 (GRCm39) |
V686A |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,721,562 (GRCm39) |
E1206G |
probably benign |
Het |
| Syne2 |
C |
A |
12: 75,996,143 (GRCm39) |
Q2228K |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,517,198 (GRCm39) |
G1430S |
probably damaging |
Het |
| Tlr12 |
C |
A |
4: 128,511,492 (GRCm39) |
A253S |
probably benign |
Het |
| Trpm1 |
G |
A |
7: 63,918,777 (GRCm39) |
A1590T |
probably benign |
Het |
| Vmn1r184 |
T |
A |
7: 25,966,686 (GRCm39) |
M144K |
probably benign |
Het |
| Wee2 |
A |
G |
6: 40,421,114 (GRCm39) |
D68G |
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 |
|
|
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'- CAGCCGTGTAACCCAATGTC -3'
(R):5'- GAGCAGTCTCTTGCATGTCTC -3'
Sequencing Primer
(F):5'- GCCGTGTAACCCAATGTCTTTCTC -3'
(R):5'- GTGCCCATTCCCACCTCAGAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation