Incidental Mutation 'R6550:Slc8b1'
ID 521497
Institutional Source Beutler Lab
Gene Symbol Slc8b1
Ensembl Gene ENSMUSG00000032754
Gene Name solute carrier family 8 (sodium/lithium/calcium exchanger), member B1
Synonyms NCLX, NCKX6, Slc24a6
MMRRC Submission 044675-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6550 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 120649233-120672089 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120662082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 257 (E257G)
Ref Sequence ENSEMBL: ENSMUSP00000107521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068326] [ENSMUST00000076051] [ENSMUST00000111889] [ENSMUST00000111890] [ENSMUST00000140329]
AlphaFold Q925Q3
Predicted Effect probably damaging
Transcript: ENSMUST00000068326
AA Change: E274G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000064714
Gene: ENSMUSG00000032754
AA Change: E274G

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Na_Ca_ex 103 246 5.7e-25 PFAM
low complexity region 262 275 N/A INTRINSIC
low complexity region 337 351 N/A INTRINSIC
transmembrane domain 360 382 N/A INTRINSIC
transmembrane domain 387 409 N/A INTRINSIC
Pfam:Na_Ca_ex 421 574 1.8e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000076051
AA Change: E274G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000075428
Gene: ENSMUSG00000032754
AA Change: E274G

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Na_Ca_ex 113 244 9.2e-19 PFAM
low complexity region 262 275 N/A INTRINSIC
transmembrane domain 323 345 N/A INTRINSIC
transmembrane domain 360 382 N/A INTRINSIC
transmembrane domain 387 409 N/A INTRINSIC
Pfam:Na_Ca_ex 431 477 2.3e-8 PFAM
low complexity region 507 519 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111889
AA Change: E218G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107520
Gene: ENSMUSG00000032754
AA Change: E218G

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Na_Ca_ex 113 232 2.5e-16 PFAM
low complexity region 281 295 N/A INTRINSIC
transmembrane domain 304 326 N/A INTRINSIC
transmembrane domain 331 353 N/A INTRINSIC
Pfam:Na_Ca_ex 375 516 1.7e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111890
AA Change: E257G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107521
Gene: ENSMUSG00000032754
AA Change: E257G

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Na_Ca_ex 116 227 2.8e-12 PFAM
low complexity region 245 258 N/A INTRINSIC
low complexity region 320 334 N/A INTRINSIC
transmembrane domain 343 365 N/A INTRINSIC
transmembrane domain 370 392 N/A INTRINSIC
Pfam:Na_Ca_ex 414 555 3.2e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123326
Predicted Effect probably benign
Transcript: ENSMUST00000140329
SMART Domains Protein: ENSMUSP00000117260
Gene: ENSMUSG00000032754

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Meta Mutation Damage Score 0.1046 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 98% (39/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC24A6 belongs to a family of potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport of 4 sodium ions for 1 calcium ion and 1 potassium ion (Cai and Lytton, 2004 [PubMed 14625281]).[supplied by OMIM, Mar 2008]
Allele List at MGI

All alleles(22) : Targeted(3) Gene trapped(19)

Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apbb1ip A G 2: 22,748,245 (GRCm39) D355G probably damaging Het
Asz1 T C 6: 18,051,380 (GRCm39) D433G probably damaging Het
Atl3 A G 19: 7,499,503 (GRCm39) T256A probably benign Het
Atp8b4 T A 2: 126,266,113 (GRCm39) T183S probably damaging Het
Bahcc1 C T 11: 120,167,477 (GRCm39) H1293Y possibly damaging Het
Bin2 A G 15: 100,543,358 (GRCm39) V243A probably benign Het
Camta1 A C 4: 151,222,832 (GRCm39) F908L probably damaging Het
Cbx2 T C 11: 118,919,851 (GRCm39) V472A possibly damaging Het
Cd22 T C 7: 30,576,977 (GRCm39) D110G probably benign Het
Cfap69 A T 5: 5,631,220 (GRCm39) D764E probably benign Het
Col2a1 A G 15: 97,874,674 (GRCm39) I1321T unknown Het
Cyp2c67 G T 19: 39,605,854 (GRCm39) Y347* probably null Het
D630044L22Rik A T 17: 26,180,628 (GRCm39) R66S possibly damaging Het
Defa27 A C 8: 21,806,340 (GRCm39) R46S possibly damaging Het
E330034G19Rik A G 14: 24,346,886 (GRCm39) M58V probably benign Het
Efhb G T 17: 53,728,968 (GRCm39) H574N probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Erlin1 A T 19: 44,025,602 (GRCm39) probably null Het
Gm10912 C T 2: 103,896,996 (GRCm39) T45I possibly damaging Het
Hsh2d C A 8: 72,952,297 (GRCm39) T156K probably benign Het
Lrrc49 G T 9: 60,584,430 (GRCm39) Q139K probably benign Het
Map3k21 A G 8: 126,664,031 (GRCm39) S531G probably damaging Het
Mcm2 A G 6: 88,863,941 (GRCm39) probably null Het
Mtarc2 C A 1: 184,551,539 (GRCm39) R299L probably damaging Het
Myo9a T C 9: 59,775,482 (GRCm39) F1031S probably damaging Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Or2n1d C T 17: 38,646,896 (GRCm39) P283S possibly damaging Het
Pmfbp1 T C 8: 110,246,839 (GRCm39) V237A possibly damaging Het
Polrmt C A 10: 79,575,514 (GRCm39) Q672H probably damaging Het
Pp2d1 T C 17: 53,822,604 (GRCm39) D154G probably damaging Het
Rars1 T C 11: 35,724,010 (GRCm39) I57V probably benign Het
Selplg G A 5: 113,958,210 (GRCm39) P32L probably benign Het
Spata31e3 G A 13: 50,399,482 (GRCm39) P948L probably benign Het
Tasor2 A G 13: 3,640,519 (GRCm39) V206A possibly damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmem87b T A 2: 128,666,385 (GRCm39) H77Q possibly damaging Het
Tpr C T 1: 150,299,728 (GRCm39) L1200F probably damaging Het
Trir G T 8: 85,756,549 (GRCm39) V154L probably damaging Het
Wdfy3 A G 5: 102,101,032 (GRCm39) V195A probably benign Het
Zdhhc5 T C 2: 84,526,685 (GRCm39) I96V probably benign Het
Other mutations in Slc8b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00958:Slc8b1 APN 5 120,671,049 (GRCm39) missense probably damaging 1.00
IGL01111:Slc8b1 APN 5 120,671,000 (GRCm39) missense probably damaging 1.00
IGL02186:Slc8b1 APN 5 120,665,928 (GRCm39) critical splice donor site probably null
IGL02448:Slc8b1 APN 5 120,663,856 (GRCm39) missense probably damaging 1.00
IGL02501:Slc8b1 APN 5 120,658,918 (GRCm39) missense probably damaging 1.00
IGL03380:Slc8b1 APN 5 120,657,800 (GRCm39) missense probably damaging 1.00
R0062:Slc8b1 UTSW 5 120,659,928 (GRCm39) critical splice donor site probably null
R0062:Slc8b1 UTSW 5 120,659,928 (GRCm39) critical splice donor site probably null
R0082:Slc8b1 UTSW 5 120,662,265 (GRCm39) unclassified probably benign
R0532:Slc8b1 UTSW 5 120,657,736 (GRCm39) missense probably damaging 0.99
R0550:Slc8b1 UTSW 5 120,669,220 (GRCm39) splice site probably benign
R0751:Slc8b1 UTSW 5 120,662,260 (GRCm39) unclassified probably benign
R1667:Slc8b1 UTSW 5 120,659,147 (GRCm39) missense probably benign 0.39
R1710:Slc8b1 UTSW 5 120,657,717 (GRCm39) missense probably damaging 1.00
R1731:Slc8b1 UTSW 5 120,659,180 (GRCm39) missense probably benign 0.12
R1865:Slc8b1 UTSW 5 120,667,717 (GRCm39) missense probably damaging 1.00
R2829:Slc8b1 UTSW 5 120,662,078 (GRCm39) missense probably benign 0.22
R4544:Slc8b1 UTSW 5 120,669,218 (GRCm39) splice site probably null
R4553:Slc8b1 UTSW 5 120,667,663 (GRCm39) missense probably damaging 0.98
R4976:Slc8b1 UTSW 5 120,663,740 (GRCm39) nonsense probably null
R4977:Slc8b1 UTSW 5 120,662,352 (GRCm39) missense possibly damaging 0.51
R5690:Slc8b1 UTSW 5 120,651,270 (GRCm39) nonsense probably null
R5812:Slc8b1 UTSW 5 120,651,403 (GRCm39) splice site probably null
R6030:Slc8b1 UTSW 5 120,657,985 (GRCm39) critical splice donor site probably null
R6030:Slc8b1 UTSW 5 120,657,985 (GRCm39) critical splice donor site probably null
R6107:Slc8b1 UTSW 5 120,667,665 (GRCm39) missense probably damaging 0.99
R6411:Slc8b1 UTSW 5 120,659,191 (GRCm39) missense probably damaging 0.99
R6486:Slc8b1 UTSW 5 120,671,067 (GRCm39) missense probably damaging 1.00
R6542:Slc8b1 UTSW 5 120,667,582 (GRCm39) missense probably damaging 1.00
R6992:Slc8b1 UTSW 5 120,665,880 (GRCm39) missense probably damaging 0.98
R7672:Slc8b1 UTSW 5 120,671,100 (GRCm39) missense probably damaging 0.99
R8056:Slc8b1 UTSW 5 120,658,682 (GRCm39) missense probably damaging 1.00
R8444:Slc8b1 UTSW 5 120,651,203 (GRCm39) start gained probably benign
R9103:Slc8b1 UTSW 5 120,670,939 (GRCm39) missense probably benign 0.00
R9106:Slc8b1 UTSW 5 120,668,416 (GRCm39) missense probably damaging 1.00
R9166:Slc8b1 UTSW 5 120,662,096 (GRCm39) missense probably benign 0.01
R9565:Slc8b1 UTSW 5 120,665,865 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGGCTATGTGAGACCTTGCC -3'
(R):5'- TTCATCTCCTGTGTGGTCCAGG -3'

Sequencing Primer
(F):5'- CTTGCCAAGGAAGGAGGG -3'
(R):5'- TCCAGGCAGGGCAGATGTG -3'
Posted On 2018-06-06