Incidental Mutation 'R6992:Slc8b1'
ID 543895
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 045098-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6992 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 120649233-120672089 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120665880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 404 (V404M)
Ref Sequence ENSEMBL: ENSMUSP00000075428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068326] [ENSMUST00000076051] [ENSMUST00000111889] [ENSMUST00000111890]
AlphaFold Q925Q3
Predicted Effect possibly damaging
Transcript: ENSMUST00000068326
AA Change: V404M

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000064714
Gene: ENSMUSG00000032754
AA Change: V404M

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: V404M

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075428
Gene: ENSMUSG00000032754
AA Change: V404M

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 possibly damaging
Transcript: ENSMUST00000111889
AA Change: V348M

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107520
Gene: ENSMUSG00000032754
AA Change: V348M

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: V387M

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107521
Gene: ENSMUSG00000032754
AA Change: V387M

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (64/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,099,990 (GRCm39) S171N possibly damaging Het
6030468B19Rik T G 11: 117,688,594 (GRCm39) M1R probably null Het
A730049H05Rik T C 6: 92,804,975 (GRCm39) probably benign Het
AC125199.3 G T 16: 88,608,915 (GRCm39) H52Q possibly damaging Het
Adam34 A T 8: 44,105,642 (GRCm39) M1K probably null Het
Adgrf5 T C 17: 43,763,214 (GRCm39) probably null Het
Antxr2 T C 5: 98,108,564 (GRCm39) T316A probably benign Het
Cc2d1a A T 8: 84,861,542 (GRCm39) V714D probably damaging Het
Cd96 A G 16: 45,870,087 (GRCm39) S461P possibly damaging Het
Cdc16 C A 8: 13,809,188 (GRCm39) A51E probably benign Het
Chd4 T A 6: 125,091,339 (GRCm39) D1243E probably benign Het
Cntf A T 19: 12,742,697 (GRCm39) I21N probably damaging Het
Col11a2 C T 17: 34,266,118 (GRCm39) A282V probably benign Het
Col14a1 T A 15: 55,274,958 (GRCm39) probably null Het
Cyp2b9 T C 7: 25,900,564 (GRCm39) Y401H probably benign Het
Dlgap4 A G 2: 156,590,860 (GRCm39) probably null Het
Fancd2 T C 6: 113,547,979 (GRCm39) probably null Het
Fcgbpl1 T A 7: 27,839,608 (GRCm39) F474I probably benign Het
Frem1 A G 4: 82,858,599 (GRCm39) V1622A possibly damaging Het
Golm1 ACTTCTTCT ACTTCT 13: 59,797,390 (GRCm39) probably benign Het
Gstm4 A G 3: 107,951,981 (GRCm39) M3T possibly damaging Het
Hdac10 T C 15: 89,009,534 (GRCm39) D466G probably benign Het
Hook2 A G 8: 85,729,185 (GRCm39) E625G probably damaging Het
Hspbp1 G C 7: 4,667,714 (GRCm39) P260A probably benign Het
Igdcc3 C A 9: 65,088,853 (GRCm39) Q411K probably damaging Het
Il18rap G A 1: 40,581,195 (GRCm39) E356K probably benign Het
Inpp4a A T 1: 37,428,772 (GRCm39) M699L probably damaging Het
Klhdc1 A G 12: 69,300,531 (GRCm39) H157R probably damaging Het
Klhl6 G T 16: 19,772,337 (GRCm39) T336N probably damaging Het
Marchf7 T C 2: 60,059,428 (GRCm39) probably null Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mlh3 T A 12: 85,282,494 (GRCm39) N1412Y probably damaging Het
Mrps27 A G 13: 99,541,522 (GRCm39) M209V probably benign Het
Mtor A T 4: 148,548,932 (GRCm39) T572S probably benign Het
Neurog1 T C 13: 56,399,363 (GRCm39) K128R probably damaging Het
Or10g6 T A 9: 39,933,896 (GRCm39) L69* probably null Het
Or2b4 T A 17: 38,116,754 (GRCm39) N239K probably damaging Het
Or5b122 A G 19: 13,562,811 (GRCm39) I48V possibly damaging Het
Pcdhgb1 A G 18: 37,814,652 (GRCm39) K381R probably benign Het
Pdzd2 T C 15: 12,457,945 (GRCm39) D306G probably damaging Het
Plekha5 C T 6: 140,489,634 (GRCm39) T237I probably damaging Het
Plscr1l1 T C 9: 92,236,725 (GRCm39) M128T probably benign Het
Pole A T 5: 110,480,365 (GRCm39) I103F probably damaging Het
Ppfia2 A T 10: 106,310,715 (GRCm39) Q74L possibly damaging Het
Ppm1d T C 11: 85,223,178 (GRCm39) F261S probably damaging Het
Psg21 A T 7: 18,388,668 (GRCm39) probably null Het
Ptprg T A 14: 11,962,602 (GRCm38) F133L probably damaging Het
Rom1 G A 19: 8,906,569 (GRCm39) probably benign Het
Rtn3 A G 19: 7,412,489 (GRCm39) F762L probably damaging Het
Sec23ip T C 7: 128,367,164 (GRCm39) S600P probably benign Het
Sema4b T A 7: 79,869,900 (GRCm39) I396N probably damaging Het
Serpina3k T A 12: 104,307,366 (GRCm39) D199E probably benign Het
Slc19a1 A G 10: 76,885,540 (GRCm39) D480G possibly damaging Het
Slco1a4 T C 6: 141,765,330 (GRCm39) D304G probably benign Het
Smpdl3b G T 4: 132,472,452 (GRCm39) A107D possibly damaging Het
Tesk1 A G 4: 43,447,006 (GRCm39) T465A probably benign Het
Tmem245 A G 4: 56,937,940 (GRCm39) F203L probably benign Het
Tnip1 T A 11: 54,809,542 (GRCm39) I442F probably benign Het
Txnip A G 3: 96,466,439 (GRCm39) K127R possibly damaging Het
Usp32 A C 11: 84,922,914 (GRCm39) L172R probably damaging Het
Vmn2r66 A G 7: 84,654,436 (GRCm39) S508P possibly damaging Het
Vwa5b2 T A 16: 20,416,952 (GRCm39) Y550N probably damaging Het
Wdr81 G A 11: 75,342,612 (GRCm39) A885V 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
R6550:Slc8b1 UTSW 5 120,662,082 (GRCm39) missense probably damaging 1.00
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'- TGAACTTCTGAACCTAGTCAGAG -3'
(R):5'- ACCCTTCAGAGGCTTCCAATTC -3'

Sequencing Primer
(F):5'- TTCTGAACCTAGTCAGAGTCGGC -3'
(R):5'- ACAGGGTTTCTCTGTGTAGCCC -3'
Posted On 2019-05-13