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) question?
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

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 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

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: T150K
SMART Domains Protein: ENSMUSP00000125012
Gene: ENSMUSG00000041771
AA Change: T150K

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 0.3442 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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