Incidental Mutation 'R9122:Slc24a1'
ID 692825
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 068924-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R9122 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 64830143-64858889 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 64834478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 981 (M981I)
Ref Sequence ENSEMBL: ENSMUSP00000035616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037798]
AlphaFold Q91WD8
Predicted Effect probably benign
Transcript: ENSMUST00000037798
AA Change: M981I

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000035616
Gene: ENSMUSG00000034452
AA Change: M981I

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency 100% (42/42)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik C G 17: 36,203,963 (GRCm39) S185T probably benign Het
Armh4 A T 14: 50,011,459 (GRCm39) Y83N possibly damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cacna1d C A 14: 29,845,402 (GRCm39) R611L probably damaging Het
Cacna1d G A 14: 29,852,125 (GRCm39) T498I probably benign Het
Cc2d2a T A 5: 43,831,081 (GRCm39) D57E probably null Het
Cd180 C A 13: 102,841,517 (GRCm39) L188M probably damaging Het
Chd7 A G 4: 8,840,510 (GRCm39) K1426R possibly damaging Het
Cntnap5c A T 17: 58,411,601 (GRCm39) D495V probably benign Het
Col11a1 T A 3: 113,907,249 (GRCm39) M630K unknown Het
Cxxc1 T G 18: 74,350,246 (GRCm39) D4E probably benign Het
Ddx31 G A 2: 28,748,753 (GRCm39) R227Q probably damaging Het
Ddx60 A G 8: 62,442,898 (GRCm39) M1109V probably benign Het
Dennd5b T C 6: 148,908,240 (GRCm39) T1018A Het
Efcab3 A T 11: 104,856,605 (GRCm39) D3840V unknown Het
Ggta1 A T 2: 35,303,336 (GRCm39) probably null Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gpr37l1 C T 1: 135,095,209 (GRCm39) V12I probably benign Het
Grin2a A T 16: 9,397,186 (GRCm39) V967E possibly damaging Het
H2ac25 T C 11: 58,845,667 (GRCm39) L35P probably damaging Het
Helz A G 11: 107,556,830 (GRCm39) T1283A probably benign Het
Ints1 A G 5: 139,745,930 (GRCm39) M1315T possibly damaging Het
Klri1 T A 6: 129,693,995 (GRCm39) R31* probably null Het
Nadk T A 4: 155,671,275 (GRCm39) N226K probably benign Het
Ncapg T C 5: 45,846,015 (GRCm39) F624S possibly damaging Het
Nxn A T 11: 76,169,317 (GRCm39) I154N probably damaging Het
Pclo T C 5: 14,729,998 (GRCm39) V2952A unknown Het
Poc1a T C 9: 106,162,242 (GRCm39) V89A probably benign Het
Pou2f2 T A 7: 24,792,302 (GRCm39) T518S probably benign Het
Pou5f1 C T 17: 35,819,953 (GRCm39) T7I probably benign Het
Prss44 T C 9: 110,646,362 (GRCm39) V363A probably damaging Het
Rhobtb1 T C 10: 69,106,653 (GRCm39) V468A probably damaging Het
Tacc1 G T 8: 25,659,255 (GRCm39) S570R probably damaging Het
Tle3 C T 9: 61,314,755 (GRCm39) probably benign Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Trgv1 G A 13: 19,524,330 (GRCm39) G18E probably damaging Het
Trim23 A G 13: 104,317,681 (GRCm39) T61A probably benign Het
Tshr C A 12: 91,478,737 (GRCm39) H195N probably benign Het
Ttn A G 2: 76,712,151 (GRCm39) S8202P unknown Het
Ufsp2 A T 8: 46,438,441 (GRCm39) Y248F probably benign Het
Vmn2r12 T A 5: 109,240,910 (GRCm39) I68L probably benign Het
Wdfy3 C A 5: 102,091,831 (GRCm39) V503L probably damaging Het
Zfp788 A T 7: 41,299,919 (GRCm39) K852* probably null Het
Zfp980 A C 4: 145,428,834 (GRCm39) H521P 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
R6161:Slc24a1 UTSW 9 64,844,545 (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
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'- GTTGAATACCAGTTAGGGCAGG -3'
(R):5'- AGCTCCGTGCACATTGCTTG -3'

Sequencing Primer
(F):5'- CTTGGAAAGCATTTGATGGCATG -3'
(R):5'- GCACATTGCTTGTTATCTTCCTCAAG -3'
Posted On 2021-12-30