Incidental Mutation 'R1865:Slc8b1'
ID 208604
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 039888-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1865 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 120649233-120672089 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120667717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 467 (N467I)
Ref Sequence ENSEMBL: ENSMUSP00000075428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046426] [ENSMUST00000068326] [ENSMUST00000076051] [ENSMUST00000111889] [ENSMUST00000111890]
AlphaFold Q925Q3
Predicted Effect probably benign
Transcript: ENSMUST00000046426
SMART Domains Protein: ENSMUSP00000042188
Gene: ENSMUSG00000032741

DomainStartEndE-ValueType
Pfam:Ion_trans 106 332 1.5e-30 PFAM
Pfam:Ion_trans 441 695 1.2e-31 PFAM
SCOP:d1fxkc_ 713 795 2e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000068326
AA Change: N467I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064714
Gene: ENSMUSG00000032754
AA Change: N467I

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: N467I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075428
Gene: ENSMUSG00000032754
AA Change: N467I

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: N411I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107520
Gene: ENSMUSG00000032754
AA Change: N411I

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 benign
Transcript: ENSMUST00000111890
AA Change: N450I

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107521
Gene: ENSMUSG00000032754
AA Change: N450I

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
Meta Mutation Damage Score 0.9126 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.3%
Validation Efficiency 98% (99/101)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik A G 1: 158,797,094 (GRCm39) noncoding transcript Het
Aatk G A 11: 119,901,048 (GRCm39) T1059M probably benign Het
Adgrg2 G A X: 159,265,347 (GRCm39) M532I probably benign Het
Agrn GCTCT GCTCTCT 4: 156,250,976 (GRCm39) probably null Het
Ahcyl2 G A 6: 29,908,354 (GRCm39) V575M probably damaging Het
Apobr A G 7: 126,185,140 (GRCm39) D217G probably benign Het
Aqp9 A C 9: 71,019,658 (GRCm39) N267K probably benign Het
Arap2 A G 5: 62,855,606 (GRCm39) V610A probably damaging Het
Arhgap21 T C 2: 20,866,015 (GRCm39) E893G probably damaging Het
Atn1 T C 6: 124,722,259 (GRCm39) probably benign Het
Bcl7a A T 5: 123,494,032 (GRCm39) D68V probably damaging Het
Cbl A C 9: 44,075,462 (GRCm39) C394W probably damaging Het
Ccdc18 T A 5: 108,341,668 (GRCm39) D854E probably benign Het
Ccdc93 A T 1: 121,426,956 (GRCm39) E580V probably damaging Het
Cd180 T A 13: 102,842,517 (GRCm39) M521K probably benign Het
Cd300ld2 T G 11: 114,903,444 (GRCm39) probably benign Het
Cdh10 T C 15: 18,899,690 (GRCm39) F6L probably benign Het
Cep78 A G 19: 15,933,368 (GRCm39) S737P probably damaging Het
Ces1f G T 8: 94,000,893 (GRCm39) probably benign Het
Clcn1 T A 6: 42,282,475 (GRCm39) D442E probably damaging Het
Col20a1 T C 2: 180,657,606 (GRCm39) L1250P possibly damaging Het
Crispld2 G A 8: 120,737,306 (GRCm39) G19E probably benign Het
Ctbp2 C T 7: 132,592,283 (GRCm39) A849T probably benign Het
Cts6 A G 13: 61,349,393 (GRCm39) I105T probably benign Het
Cul4a A G 8: 13,192,589 (GRCm39) T617A possibly damaging Het
Cyp2c68 G T 19: 39,722,733 (GRCm39) R272S probably benign Het
Cystm1 A G 18: 36,499,729 (GRCm39) Y48C unknown Het
Dach1 T A 14: 98,077,645 (GRCm39) R579S possibly damaging Het
Ddrgk1 A T 2: 130,496,215 (GRCm39) I270N probably damaging Het
Dhx32 A T 7: 133,339,025 (GRCm39) C197S probably benign Het
Dnah10 A C 5: 124,909,590 (GRCm39) probably null Het
Ecm2 T C 13: 49,683,621 (GRCm39) V533A probably benign Het
Eif4g1 A G 16: 20,497,398 (GRCm39) T202A probably damaging Het
Ephb4 A T 5: 137,361,572 (GRCm39) Q525L possibly damaging Het
F2 T C 2: 91,465,539 (GRCm39) D82G probably benign Het
Fam184b G T 5: 45,689,231 (GRCm39) N868K possibly damaging Het
Fbxo25 A G 8: 13,985,248 (GRCm39) T314A probably damaging Het
Folh1 A G 7: 86,375,114 (GRCm39) M624T possibly damaging Het
Gabra5 G A 7: 57,138,940 (GRCm39) R71* probably null Het
Gmpr G T 13: 45,696,101 (GRCm39) V278F probably damaging Het
Hmcn1 A T 1: 150,479,563 (GRCm39) C4634S probably damaging Het
Hspa5 T C 2: 34,664,553 (GRCm39) F336L probably damaging Het
Igfbp4 G A 11: 98,932,512 (GRCm39) G64R probably damaging Het
Itch G A 2: 155,010,666 (GRCm39) V45I probably damaging Het
Itgb1 T A 8: 129,446,938 (GRCm39) F484L probably benign Het
Itpr3 A G 17: 27,338,997 (GRCm39) I2593V probably benign Het
Kcnj8 T A 6: 142,515,966 (GRCm39) H47L probably damaging Het
Lcn2 T C 2: 32,275,434 (GRCm39) T194A possibly damaging Het
Mast4 A T 13: 102,930,625 (GRCm39) V209D probably damaging Het
Matn3 T A 12: 9,002,041 (GRCm39) D84E probably damaging Het
Mcm7 T A 5: 138,168,637 (GRCm39) Q18L possibly damaging Het
Mctp1 G A 13: 76,533,267 (GRCm39) C205Y possibly damaging Het
Megf11 A G 9: 64,587,581 (GRCm39) T460A probably benign Het
Mlh1 A T 9: 111,086,092 (GRCm39) probably benign Het
Mylk T A 16: 34,732,600 (GRCm39) S627T probably benign Het
Nat2 A G 8: 67,954,204 (GRCm39) M105V possibly damaging Het
Nav2 A G 7: 49,197,943 (GRCm39) T2A possibly damaging Het
Ndst3 A T 3: 123,465,120 (GRCm39) I284N probably damaging Het
Nfix A G 8: 85,498,904 (GRCm39) V23A possibly damaging Het
Nr2f1 T C 13: 78,338,045 (GRCm39) Y200C probably damaging Het
Or14a258 T C 7: 86,035,769 (GRCm39) Y33C probably damaging Het
Or2g25 T C 17: 37,970,754 (GRCm39) I157V possibly damaging Het
Or6b13 G A 7: 139,782,285 (GRCm39) R133C probably damaging Het
Or8d1b T C 9: 38,887,200 (GRCm39) V76A probably benign Het
Or8u8 T G 2: 86,011,882 (GRCm39) D191A probably damaging Het
Pcdhb21 T C 18: 37,647,648 (GRCm39) V259A possibly damaging Het
Phip A T 9: 82,827,845 (GRCm39) V127E probably damaging Het
Pik3r5 A G 11: 68,383,318 (GRCm39) D379G probably damaging Het
Pkdrej A T 15: 85,704,525 (GRCm39) C470* probably null Het
Plxnd1 A T 6: 115,946,402 (GRCm39) probably null Het
Polr1a G A 6: 71,943,508 (GRCm39) V1248I probably damaging Het
Pou3f2 A T 4: 22,486,917 (GRCm39) C405* probably null Het
Ppp1r3a A T 6: 14,718,404 (GRCm39) S837T probably damaging Het
Rest T A 5: 77,428,745 (GRCm39) V388E probably damaging Het
Rnft2 A T 5: 118,370,540 (GRCm39) W220R probably damaging Het
Rnpc3 A T 3: 113,415,559 (GRCm39) Y107* probably null Het
Senp8 G A 9: 59,644,835 (GRCm39) S94F probably damaging Het
Ski A G 4: 155,306,698 (GRCm39) S94P possibly damaging Het
Skint8 A G 4: 111,794,192 (GRCm39) D194G probably damaging Het
Slc35c2 C A 2: 165,120,303 (GRCm39) R232L probably benign Het
Slc43a3 T A 2: 84,777,245 (GRCm39) V198D possibly damaging Het
Srbd1 A G 17: 86,422,732 (GRCm39) probably benign Het
Sstr3 T C 15: 78,424,168 (GRCm39) H193R probably damaging Het
Sv2c A C 13: 96,113,283 (GRCm39) S555R probably benign Het
Tagln3 A G 16: 45,532,013 (GRCm39) V173A possibly damaging Het
Tctn2 C A 5: 124,757,143 (GRCm39) noncoding transcript Het
Tfap2a G T 13: 40,881,884 (GRCm39) H167Q probably damaging Het
Tmem213 A G 6: 38,086,487 (GRCm39) T48A possibly damaging Het
Tmem30c A G 16: 57,090,352 (GRCm39) probably benign Het
Tmem37 A G 1: 119,995,952 (GRCm39) S42P probably damaging Het
Tnxb C T 17: 34,922,431 (GRCm39) Q2415* probably null Het
Ttyh1 T C 7: 4,122,730 (GRCm39) L26P probably damaging Het
Ubn2 T A 6: 38,417,425 (GRCm39) D154E possibly damaging Het
Vdac3 A T 8: 23,070,553 (GRCm39) Y119* probably null Het
Vmn2r58 T C 7: 41,486,682 (GRCm39) I738V possibly damaging Het
Zfp704 A G 3: 9,539,551 (GRCm39) probably benign Het
Znfx1 G A 2: 166,880,729 (GRCm39) R352W probably damaging 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
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
R6550:Slc8b1 UTSW 5 120,662,082 (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'- CAGATAGGACATGTTCTGCTGG -3'
(R):5'- GCGGAGTGTTTCAAGCATCC -3'

Sequencing Primer
(F):5'- TGTGGATCAATGCAGCC -3'
(R):5'- CGGAGTGTTTCAAGCATCCAACAAG -3'
Posted On 2014-06-30