Incidental Mutation 'R6030:Slc8b1'
ID 486187
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 044202-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6030 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 120649233-120672089 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 120657985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068326] [ENSMUST00000076051] [ENSMUST00000111889] [ENSMUST00000111890] [ENSMUST00000140329]
AlphaFold Q925Q3
Predicted Effect probably null
Transcript: ENSMUST00000068326
SMART Domains Protein: ENSMUSP00000064714
Gene: ENSMUSG00000032754

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 null
Transcript: ENSMUST00000076051
SMART Domains Protein: ENSMUSP00000075428
Gene: ENSMUSG00000032754

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 null
Transcript: ENSMUST00000111889
SMART Domains Protein: ENSMUSP00000107520
Gene: ENSMUSG00000032754

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 null
Transcript: ENSMUST00000111890
SMART Domains Protein: ENSMUSP00000107521
Gene: ENSMUSG00000032754

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,133,021 (GRCm39) N1317D probably benign Het
Abhd8 T A 8: 71,910,794 (GRCm39) Y338F possibly damaging Het
Actg2 G T 6: 83,493,346 (GRCm39) N297K probably damaging Het
Agap1 A G 1: 89,558,156 (GRCm39) D148G probably damaging Het
Alox12 T C 11: 70,145,417 (GRCm39) D52G possibly damaging Het
Ano5 T A 7: 51,224,573 (GRCm39) S496T probably damaging Het
Arl6ip4 T C 5: 124,255,968 (GRCm39) probably null Het
Atp4a G C 7: 30,421,941 (GRCm39) E826Q probably damaging Het
Bbs7 T C 3: 36,657,060 (GRCm39) D256G probably damaging Het
Bckdha T A 7: 25,330,866 (GRCm39) D50V probably damaging Het
Cast A G 13: 74,844,056 (GRCm39) S693P possibly damaging Het
Cfap251 C T 5: 123,412,267 (GRCm39) T532M probably damaging Het
Col6a1 T C 10: 76,545,700 (GRCm39) Y924C unknown Het
Crkl A G 16: 17,270,604 (GRCm39) Y88C probably damaging Het
Cse1l T C 2: 166,761,541 (GRCm39) F32L probably benign Het
Dmxl2 C T 9: 54,300,957 (GRCm39) V2385I probably benign Het
Dnah1 T A 14: 30,989,984 (GRCm39) I3219F probably damaging Het
Dnah17 C T 11: 117,916,375 (GRCm39) R4266H probably benign Het
Efcab5 A G 11: 77,012,088 (GRCm39) L722P probably damaging Het
Emilin3 C A 2: 160,751,105 (GRCm39) V215L probably benign Het
Entr1 T C 2: 26,276,983 (GRCm39) D249G possibly damaging Het
Esr1 A T 10: 4,696,622 (GRCm39) N157I possibly damaging Het
Esrrg A G 1: 187,930,904 (GRCm39) M309V probably benign Het
Fam120b G A 17: 15,622,172 (GRCm39) R50Q probably damaging Het
Fat2 G T 11: 55,201,129 (GRCm39) Y648* probably null Het
Gbp2b T A 3: 142,309,414 (GRCm39) I175N probably benign Het
Gm1043 T A 5: 37,311,952 (GRCm39) probably benign Het
Gm21060 A G 19: 61,285,411 (GRCm39) C33R possibly damaging Het
Gpx6 C T 13: 21,496,510 (GRCm39) S28L probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ifi44 T C 3: 151,455,195 (GRCm39) Q10R probably benign Het
Impa2 T C 18: 67,451,498 (GRCm39) V264A probably benign Het
Khdc1a A T 1: 21,421,108 (GRCm39) M98L probably benign Het
Lrrc45 T A 11: 120,611,474 (GRCm39) L616* probably null Het
Mios A T 6: 8,215,704 (GRCm39) H300L probably benign Het
Mllt6 A T 11: 97,568,051 (GRCm39) T827S probably damaging Het
Mrc1 C A 2: 14,321,712 (GRCm39) D1068E probably benign Het
Ndst3 T C 3: 123,346,168 (GRCm39) Y702C probably damaging Het
Nek11 T A 9: 105,082,087 (GRCm39) probably null Het
Nek4 T C 14: 30,678,890 (GRCm39) F138S probably damaging Het
Nfatc4 T A 14: 56,069,897 (GRCm39) Y688* probably null Het
Nlrx1 C T 9: 44,175,057 (GRCm39) V240M probably damaging Het
Npy6r A T 18: 44,409,149 (GRCm39) Y190F probably benign Het
Or10ab5 A C 7: 108,245,433 (GRCm39) S117A possibly damaging Het
Or10d4b T C 9: 39,534,637 (GRCm39) F71L probably damaging Het
Or1j10 T G 2: 36,267,556 (GRCm39) L256R probably damaging Het
Or52b4i C A 7: 102,191,817 (GRCm39) R225S probably benign Het
Or5p52 A G 7: 107,502,620 (GRCm39) E232G probably benign Het
Or6c68 A T 10: 129,158,238 (GRCm39) T249S probably benign Het
Osbpl7 A C 11: 96,943,087 (GRCm39) H113P probably benign Het
Pam16l C T 10: 43,400,252 (GRCm39) A30V probably benign Het
Pck1 A G 2: 172,996,650 (GRCm39) E188G probably benign Het
Pimreg A G 11: 71,936,576 (GRCm39) D213G probably benign Het
Pkd1l2 A G 8: 117,769,976 (GRCm39) I1160T probably damaging Het
Ppargc1b G A 18: 61,441,005 (GRCm39) Q622* probably null Het
Ppfia2 T A 10: 106,742,338 (GRCm39) C1044S probably damaging Het
Ppp4r3a A G 12: 101,024,659 (GRCm39) V280A probably damaging Het
Ptprf T C 4: 118,068,245 (GRCm39) N1764D probably benign Het
Pygm C T 19: 6,438,842 (GRCm39) R311C possibly damaging Het
Rab7b A G 1: 131,626,299 (GRCm39) K109R probably damaging Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Homo
Setbp1 T G 18: 78,900,926 (GRCm39) I914L probably benign Het
Shprh A C 10: 11,027,735 (GRCm39) Q114P probably benign Het
Slc5a9 T C 4: 111,742,725 (GRCm39) I456V possibly damaging Het
Spin1 T A 13: 51,293,552 (GRCm39) Y87* probably null Het
Spring1 T C 5: 118,393,798 (GRCm39) W59R probably damaging Het
Srebf2 T C 15: 82,061,477 (GRCm39) probably null Het
Sufu T C 19: 46,463,978 (GRCm39) Y397H probably damaging Het
Tgfb3 A C 12: 86,110,624 (GRCm39) V242G probably benign Het
Tgm3 A T 2: 129,883,920 (GRCm39) Y526F probably damaging Het
Tmem209 A G 6: 30,482,967 (GRCm39) L508P probably damaging Het
Tmem67 T C 4: 12,063,799 (GRCm39) D454G probably benign Het
Ttn T C 2: 76,646,943 (GRCm39) E3280G possibly damaging Het
Tusc3 G C 8: 39,538,560 (GRCm39) G200R probably damaging Het
Umps A G 16: 33,782,508 (GRCm39) V138A probably benign Het
Ypel1 A G 16: 16,902,377 (GRCm39) probably null Het
Zdhhc19 T A 16: 32,317,860 (GRCm39) L63Q probably null 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
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'- CTACCTTGAGGGCATCTTCTG -3'
(R):5'- AAGCACAGGCATATACATGTGC -3'

Sequencing Primer
(F):5'- CATCTTCTGCTACTTCCCCC -3'
(R):5'- GGCATATACATGTGCAAGGACTCTC -3'
Posted On 2017-08-16