Incidental Mutation 'R6161:Slc24a1'
ID 489875
Institutional Source Beutler Lab
Gene Symbol Slc24a1
Ensembl Gene ENSMUSG00000034452
Gene Name solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
Synonyms
MMRRC Submission 044308-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R6161 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 64830143-64858889 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64844545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 606 (N606S)
Ref Sequence ENSEMBL: ENSMUSP00000035616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037798]
AlphaFold Q91WD8
Predicted Effect unknown
Transcript: ENSMUST00000037798
AA Change: N606S
SMART Domains Protein: ENSMUSP00000035616
Gene: ENSMUSG00000034452
AA Change: N606S

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Na_Ca_ex 425 569 1.7e-28 PFAM
low complexity region 683 699 N/A INTRINSIC
coiled coil region 747 776 N/A INTRINSIC
coiled coil region 818 847 N/A INTRINSIC
coiled coil region 898 928 N/A INTRINSIC
transmembrane domain 939 956 N/A INTRINSIC
Pfam:Na_Ca_ex 967 1118 1.7e-33 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a null allele display slow progressive retinal degeneration and develop stationary night blindness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,139,934 (GRCm39) K1533M probably damaging Het
Aldh1l2 C T 10: 83,356,202 (GRCm39) V63I probably benign Het
Atr A G 9: 95,747,372 (GRCm39) H218R probably benign Het
Atxn7l1 T A 12: 33,408,662 (GRCm39) S275T possibly damaging Het
Cacna1c T C 6: 119,034,263 (GRCm39) K88R probably damaging Het
Ccl7 T C 11: 81,937,412 (GRCm39) Y49H probably damaging Het
Cers5 A G 15: 99,636,544 (GRCm39) probably null Het
Chuk T C 19: 44,071,076 (GRCm39) E543G probably damaging Het
Dip2c T C 13: 9,697,043 (GRCm39) V1318A probably damaging Het
Ercc5 A G 1: 44,206,512 (GRCm39) H475R probably benign Het
Fat3 A G 9: 16,288,818 (GRCm39) L235P probably damaging Het
Fbn1 A T 2: 125,211,721 (GRCm39) C892* probably null Het
Fbxw8 T C 5: 118,230,740 (GRCm39) T354A possibly damaging Het
Fsip2 A C 2: 82,817,601 (GRCm39) T4445P possibly damaging Het
Gpld1 A T 13: 25,155,397 (GRCm39) Q344L probably benign Het
Hao1 A T 2: 134,347,545 (GRCm39) D253E probably benign Het
Hmcn2 A G 2: 31,246,266 (GRCm39) D745G probably benign Het
Kcnt1 A G 2: 25,793,397 (GRCm39) T658A probably benign Het
Klhl35 A G 7: 99,122,544 (GRCm39) probably benign Het
Lnx2 C T 5: 146,978,836 (GRCm39) probably null Het
Map3k5 T C 10: 19,876,321 (GRCm39) V160A probably damaging Het
Masp2 A T 4: 148,698,469 (GRCm39) I517F possibly damaging Het
Mc4r A T 18: 66,992,251 (GRCm39) Y287* probably null Het
Mthfr A G 4: 148,126,211 (GRCm39) D94G probably benign Het
Muc16 A G 9: 18,559,114 (GRCm39) I2393T unknown Het
Mybbp1a G T 11: 72,336,838 (GRCm39) V557L probably damaging Het
Mycbp2 A T 14: 103,536,183 (GRCm39) W256R probably damaging Het
Nacad G A 11: 6,550,902 (GRCm39) S763L probably benign Het
Nebl A G 2: 17,735,641 (GRCm39) V11A probably benign Het
Notch1 A T 2: 26,358,743 (GRCm39) C1363S probably damaging Het
Nphp3 A G 9: 103,909,105 (GRCm39) N772D probably benign Het
Nqo2 G A 13: 34,163,634 (GRCm39) V98M probably damaging Het
Pak4 A G 7: 28,264,692 (GRCm39) I70T possibly damaging Het
Pbx2 A G 17: 34,812,574 (GRCm39) K2E probably damaging Het
Pikfyve A G 1: 65,255,202 (GRCm39) T352A probably benign Het
Polr1g G A 7: 19,091,558 (GRCm39) T183I possibly damaging Het
Pop1 T C 15: 34,526,456 (GRCm39) Y684H probably damaging Het
Rpa1 A G 11: 75,205,721 (GRCm39) V212A probably damaging Het
Rpap2 A G 5: 107,768,536 (GRCm39) E458G probably damaging Het
Sin3a T C 9: 57,002,708 (GRCm39) V200A possibly damaging Het
Sla T C 15: 66,654,447 (GRCm39) T280A probably null Het
Slc22a26 A T 19: 7,763,812 (GRCm39) I406K possibly damaging Het
Slc39a10 G A 1: 46,866,567 (GRCm39) T443M probably damaging Het
Smg1 A T 7: 117,762,553 (GRCm39) probably benign Het
Sra1 G A 18: 36,803,336 (GRCm39) A9V probably damaging Het
Stard4 A G 18: 33,342,109 (GRCm39) V47A probably damaging Het
Stat4 A T 1: 52,113,836 (GRCm39) D182V possibly damaging Het
Syt1 A G 10: 108,467,668 (GRCm39) F210L probably damaging Het
Ube2q1 T A 3: 89,688,667 (GRCm39) probably null Het
Vmn1r159 C T 7: 22,542,612 (GRCm39) C140Y possibly damaging Het
Wnt8a T C 18: 34,678,599 (GRCm39) F138L possibly damaging Het
Zfp623 T A 15: 75,820,470 (GRCm39) D475E probably benign Het
Zfp646 C T 7: 127,477,897 (GRCm39) R25W probably damaging Het
Other mutations in Slc24a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Slc24a1 APN 9 64,835,301 (GRCm39) missense probably damaging 0.99
IGL01602:Slc24a1 APN 9 64,833,463 (GRCm39) missense probably damaging 1.00
IGL03111:Slc24a1 APN 9 64,833,608 (GRCm39) missense probably damaging 0.98
R0092:Slc24a1 UTSW 9 64,856,034 (GRCm39) missense unknown
R0708:Slc24a1 UTSW 9 64,855,172 (GRCm39) missense unknown
R0827:Slc24a1 UTSW 9 64,835,472 (GRCm39) missense probably benign 0.03
R1294:Slc24a1 UTSW 9 64,843,295 (GRCm39) missense unknown
R1613:Slc24a1 UTSW 9 64,855,978 (GRCm39) missense unknown
R2858:Slc24a1 UTSW 9 64,856,614 (GRCm39) missense unknown
R3779:Slc24a1 UTSW 9 64,855,579 (GRCm39) missense unknown
R3899:Slc24a1 UTSW 9 64,835,426 (GRCm39) missense probably damaging 0.99
R3900:Slc24a1 UTSW 9 64,835,426 (GRCm39) missense probably damaging 0.99
R4409:Slc24a1 UTSW 9 64,855,506 (GRCm39) missense probably benign 0.39
R4732:Slc24a1 UTSW 9 64,856,836 (GRCm39) missense probably benign 0.23
R4733:Slc24a1 UTSW 9 64,856,836 (GRCm39) missense probably benign 0.23
R4745:Slc24a1 UTSW 9 64,856,758 (GRCm39) missense unknown
R4915:Slc24a1 UTSW 9 64,855,213 (GRCm39) missense unknown
R5371:Slc24a1 UTSW 9 64,856,550 (GRCm39) missense unknown
R5448:Slc24a1 UTSW 9 64,855,609 (GRCm39) missense probably benign 0.39
R5540:Slc24a1 UTSW 9 64,855,863 (GRCm39) missense unknown
R5863:Slc24a1 UTSW 9 64,835,824 (GRCm39) missense unknown
R6810:Slc24a1 UTSW 9 64,855,605 (GRCm39) missense probably benign 0.39
R7215:Slc24a1 UTSW 9 64,835,785 (GRCm39) missense unknown
R7380:Slc24a1 UTSW 9 64,855,815 (GRCm39) missense unknown
R7453:Slc24a1 UTSW 9 64,856,583 (GRCm39) missense unknown
R7466:Slc24a1 UTSW 9 64,835,686 (GRCm39) missense unknown
R7488:Slc24a1 UTSW 9 64,831,764 (GRCm39) missense probably benign 0.41
R7672:Slc24a1 UTSW 9 64,855,209 (GRCm39) missense unknown
R7939:Slc24a1 UTSW 9 64,835,648 (GRCm39) missense probably benign 0.33
R7984:Slc24a1 UTSW 9 64,856,811 (GRCm39) nonsense probably null
R8097:Slc24a1 UTSW 9 64,831,734 (GRCm39) missense probably damaging 0.97
R8724:Slc24a1 UTSW 9 64,855,453 (GRCm39) missense probably benign 0.39
R8812:Slc24a1 UTSW 9 64,835,985 (GRCm39) missense unknown
R9122:Slc24a1 UTSW 9 64,834,478 (GRCm39) missense probably benign 0.03
R9252:Slc24a1 UTSW 9 64,835,394 (GRCm39) missense probably damaging 0.99
X0063:Slc24a1 UTSW 9 64,856,425 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCATGTTTCCCAGGAGCCTC -3'
(R):5'- AGACAGGTGACACATTTGAGAC -3'

Sequencing Primer
(F):5'- TTCCCAGGAGCCTCCCAGG -3'
(R):5'- CACATTTGAGACAAAAGGTGGTG -3'
Posted On 2017-10-10