Incidental Mutation 'IGL02448:Slc8b1'
ID293620
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc8b1
Ensembl Gene ENSMUSG00000032754
Gene Namesolute carrier family 8 (sodium/lithium/calcium exchanger), member B1
SynonymsNCLX, NCKX6, Slc24a6
Accession Numbers

Ncbi RefSeq: NM_133221.2, NM_001177594.1, NM_001177595.1; MGI:2180781

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02448
Quality Score
Status
Chromosome5
Chromosomal Location120511168-120534024 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 120525791 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 359 (S359P)
Ref Sequence ENSEMBL: ENSMUSP00000107521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068326] [ENSMUST00000076051] [ENSMUST00000111889] [ENSMUST00000111890]
Predicted Effect probably damaging
Transcript: ENSMUST00000068326
AA Change: S376P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064714
Gene: ENSMUSG00000032754
AA Change: S376P

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: S376P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075428
Gene: ENSMUSG00000032754
AA Change: S376P

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: S320P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107520
Gene: ENSMUSG00000032754
AA Change: S320P

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: S359P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107521
Gene: ENSMUSG00000032754
AA Change: S359P

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
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl6 T A 9: 20,875,570 I286F probably damaging Het
Arhgap5 A G 12: 52,562,340 E1366G probably damaging Het
Blzf1 T A 1: 164,295,781 I326F possibly damaging Het
Cc2d2a A C 5: 43,683,205 probably benign Het
Cdc37 T C 9: 21,139,851 E366G possibly damaging Het
Cdh17 T C 4: 11,784,680 S279P probably benign Het
Cdh18 T C 15: 23,173,789 S30P probably benign Het
Cep192 A G 18: 67,869,447 T2238A probably benign Het
Cpped1 C T 16: 11,805,389 E289K probably benign Het
Ctsq A T 13: 61,036,230 Y293N probably damaging Het
Epb41l2 A G 10: 25,493,595 N20S possibly damaging Het
Gcc2 T A 10: 58,292,571 C1304* probably null Het
Hsd3b5 C T 3: 98,622,131 G61E probably damaging Het
Igfals A T 17: 24,880,187 N84I probably damaging Het
Irs2 A T 8: 11,007,862 V190D probably benign Het
Kank1 T A 19: 25,411,375 L804Q probably damaging Het
Kcnj2 G T 11: 111,072,282 V167L probably benign Het
Kif20a T C 18: 34,628,454 V300A possibly damaging Het
Kmt2d T C 15: 98,844,110 probably benign Het
Moxd1 T C 10: 24,282,719 F424L probably damaging Het
Mpeg1 A C 19: 12,462,609 D477A probably benign Het
Mtmr10 A T 7: 64,308,150 Y166F probably damaging Het
Muc5b T G 7: 141,868,489 I4454S possibly damaging Het
Ntng1 G A 3: 109,934,559 probably benign Het
Olfr582 T C 7: 103,042,397 I306T possibly damaging Het
Olfr869 T A 9: 20,137,641 L175* probably null Het
Pex11a A T 7: 79,737,460 probably null Het
Plcg2 A G 8: 117,607,221 D911G probably benign Het
Rc3h2 T C 2: 37,389,805 T471A probably benign Het
Rif1 T A 2: 52,116,696 L2214Q probably damaging Het
Rtel1 T A 2: 181,336,037 S120T probably benign Het
Ryr1 A G 7: 29,105,066 probably benign Het
Sh3yl1 G T 12: 30,939,667 A129S probably damaging Het
Slc25a10 A G 11: 120,497,053 T191A probably benign Het
Srf T C 17: 46,555,423 T136A possibly damaging Het
Stx1a G T 5: 135,023,619 probably benign Het
Taf1d T A 9: 15,310,394 C224* probably null Het
Tnik A G 3: 28,621,077 S700G probably null Het
Ttn T C 2: 76,736,114 E28145G probably damaging Het
Ttn T C 2: 76,942,987 H2357R probably benign Het
Ush1c C A 7: 46,209,137 V576F possibly damaging Het
Xpc T C 6: 91,515,744 E19G probably benign Het
Zdhhc25 G A 15: 88,600,842 V127M probably damaging Het
Other mutations in Slc8b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00958:Slc8b1 APN 5 120532984 missense probably damaging 1.00
IGL01111:Slc8b1 APN 5 120532935 missense probably damaging 1.00
IGL02186:Slc8b1 APN 5 120527863 critical splice donor site probably null
IGL02501:Slc8b1 APN 5 120520853 missense probably damaging 1.00
IGL03380:Slc8b1 APN 5 120519735 missense probably damaging 1.00
R0062:Slc8b1 UTSW 5 120521863 critical splice donor site probably null
R0062:Slc8b1 UTSW 5 120521863 critical splice donor site probably null
R0082:Slc8b1 UTSW 5 120524200 unclassified probably benign
R0532:Slc8b1 UTSW 5 120519671 missense probably damaging 0.99
R0550:Slc8b1 UTSW 5 120531155 splice site probably benign
R0751:Slc8b1 UTSW 5 120524195 unclassified probably benign
R1667:Slc8b1 UTSW 5 120521082 missense probably benign 0.39
R1710:Slc8b1 UTSW 5 120519652 missense probably damaging 1.00
R1731:Slc8b1 UTSW 5 120521115 missense probably benign 0.12
R1865:Slc8b1 UTSW 5 120529652 missense probably damaging 1.00
R2829:Slc8b1 UTSW 5 120524013 missense probably benign 0.22
R4544:Slc8b1 UTSW 5 120531153 splice site probably null
R4553:Slc8b1 UTSW 5 120529598 missense probably damaging 0.98
R4976:Slc8b1 UTSW 5 120525675 nonsense probably null
R4977:Slc8b1 UTSW 5 120524287 missense possibly damaging 0.51
R5690:Slc8b1 UTSW 5 120513205 nonsense probably null
R5812:Slc8b1 UTSW 5 120513338 splice site probably null
R6030:Slc8b1 UTSW 5 120519920 critical splice donor site probably null
R6030:Slc8b1 UTSW 5 120519920 critical splice donor site probably null
R6107:Slc8b1 UTSW 5 120529600 missense probably damaging 0.99
R6411:Slc8b1 UTSW 5 120521126 missense probably damaging 0.99
R6486:Slc8b1 UTSW 5 120533002 missense probably damaging 1.00
R6542:Slc8b1 UTSW 5 120529517 missense probably damaging 1.00
R6550:Slc8b1 UTSW 5 120524017 missense probably damaging 1.00
R6992:Slc8b1 UTSW 5 120527815 missense probably damaging 0.98
R7672:Slc8b1 UTSW 5 120533035 missense probably damaging 0.99
R8056:Slc8b1 UTSW 5 120520617 missense probably damaging 1.00
Posted On2015-04-16