Incidental Mutation 'R3498:Slc24a4'
ID 273677
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 040661-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3498 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 102094992-102233350 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102200951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 278 (K278N)
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: K280N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000078030
Gene: ENSMUSG00000041771
AA Change: K280N

DomainStartEndE-ValueType
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: K278N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124513
Gene: ENSMUSG00000041771
AA Change: K278N

DomainStartEndE-ValueType
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: K277N
SMART Domains Protein: ENSMUSP00000125012
Gene: ENSMUSG00000041771
AA Change: K277N

DomainStartEndE-ValueType
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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (43/43)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,649,350 (GRCm39) F6L probably benign Het
Aurkc A G 7: 7,003,029 (GRCm39) I175V probably damaging Het
Azi2 A G 9: 117,878,475 (GRCm39) D105G probably damaging Het
Bcat1 A G 6: 144,965,068 (GRCm39) V45A probably damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Ddx42 A G 11: 106,122,019 (GRCm39) E178G possibly damaging Het
Dmpk T C 7: 18,820,306 (GRCm39) I101T probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Fosb C T 7: 19,040,557 (GRCm39) R161H probably damaging Het
Gm6729 T C 10: 86,376,582 (GRCm39) noncoding transcript Het
Gnb1 T A 4: 155,639,483 (GRCm39) N237K possibly damaging Het
Gpr35 A G 1: 92,911,113 (GRCm39) Y275C probably damaging Het
Hmcn1 A T 1: 150,480,853 (GRCm39) I4441N probably damaging Het
Ighe G A 12: 113,234,994 (GRCm39) Q389* probably null Het
Kcnj11 T C 7: 45,749,026 (GRCm39) D23G probably damaging Het
Lats2 G T 14: 57,959,923 (GRCm39) A191E possibly damaging Het
Lyplal1 A G 1: 185,820,857 (GRCm39) S197P possibly damaging Het
Map4 G T 9: 109,864,280 (GRCm39) V502L probably benign Het
Mgat5 A G 1: 127,312,571 (GRCm39) M237V possibly damaging Het
Mindy4 A G 6: 55,193,510 (GRCm39) R68G probably benign Het
Nell1 T A 7: 49,907,927 (GRCm39) V362E possibly damaging Het
Or5m8 T A 2: 85,822,774 (GRCm39) F204L probably benign Het
Or6c66b T A 10: 129,376,778 (GRCm39) I124N probably damaging Het
P4ha2 T C 11: 54,010,079 (GRCm39) Y279H probably benign Het
Pcid2 A G 8: 13,150,413 (GRCm39) V13A possibly damaging Het
Polr2j T C 5: 136,151,624 (GRCm39) I116T probably benign Het
Prdm9 A G 17: 15,783,207 (GRCm39) probably benign Het
Prr5 T A 15: 84,587,345 (GRCm39) V365E probably benign Het
Ptprf A T 4: 118,082,127 (GRCm39) I1037N probably damaging Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,169,203 (GRCm39) probably benign Het
Sde2 T A 1: 180,685,750 (GRCm39) C101S probably damaging Het
Sec1 T C 7: 45,328,663 (GRCm39) H128R probably damaging Het
Serpinb6a A T 13: 34,102,764 (GRCm39) M253K probably damaging Het
Slc1a4 A T 11: 20,263,973 (GRCm39) I248N probably damaging Het
Slc22a4 T G 11: 53,882,879 (GRCm39) K328N probably benign Het
Slc6a21 T A 7: 44,930,266 (GRCm39) W222R probably damaging Het
Slc7a2 A G 8: 41,365,567 (GRCm39) E466G probably benign Het
Sspo A G 6: 48,444,914 (GRCm39) T2133A possibly damaging Het
Taco1 A G 11: 105,963,364 (GRCm39) M172V probably benign Het
Tmem127 T A 2: 127,098,040 (GRCm39) H36Q probably benign Het
Tmem229b-ps C T 10: 53,351,223 (GRCm39) noncoding transcript Het
Vac14 A G 8: 111,397,722 (GRCm39) D479G probably benign Het
Vmn1r176 T A 7: 23,534,667 (GRCm39) K162I probably benign Het
Other mutations in Slc24a4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- GCATCAGCAACAGTTTATCTGC -3'
(R):5'- CCATGTGCTGGGTTAACTTACTTC -3'

Sequencing Primer
(F):5'- TACAGAAGTAAGCCACACTTTAAGG -3'
(R):5'- CATTAATTATGATCCTGCTGGCC -3'
Posted On 2015-04-02