Incidental Mutation 'R3806:Slc4a1'
ID 274613
Institutional Source Beutler Lab
Gene Symbol Slc4a1
Ensembl Gene ENSMUSG00000006574
Gene Name solute carrier family 4 (anion exchanger), member 1
Synonyms band 3, CD233, Ae1, erythrocyte membrane protein band 3, l11Jus51, Empb3
MMRRC Submission 040763-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3806 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 102239646-102256107 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102248019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 325 (E325G)
Ref Sequence ENSEMBL: ENSMUSP00000006749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006749]
AlphaFold P04919
Predicted Effect probably benign
Transcript: ENSMUST00000006749
AA Change: E325G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000006749
Gene: ENSMUSG00000006574
AA Change: E325G

DomainStartEndE-ValueType
low complexity region 58 68 N/A INTRINSIC
Pfam:Band_3_cyto 100 342 1.6e-81 PFAM
Pfam:HCO3_cotransp 391 584 5.7e-85 PFAM
Pfam:HCO3_cotransp 575 857 5.6e-118 PFAM
transmembrane domain 875 892 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128405
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145636
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151050
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for null mutations exhibit retarded growth, severe spherocytosis, hemolytic anemia, lack of erythrocyte glycophorin A, mitotic defects, and high postnatal mortality. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted, knock-out(3) Targeted, other(1) Spontaneous(1) Chemically induced(1)

Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Akap9 A G 5: 4,004,410 (GRCm39) N108S probably benign Het
Ankmy1 A G 1: 92,811,480 (GRCm39) I636T possibly damaging Het
Bbs9 T A 9: 22,798,926 (GRCm39) D851E probably damaging Het
Bicd1 T A 6: 149,420,489 (GRCm39) L780M probably damaging Het
Ccdc175 T C 12: 72,227,598 (GRCm39) T62A possibly damaging Het
Cfhr4 T A 1: 139,680,773 (GRCm39) K248N probably damaging Het
Clcnka T C 4: 141,114,601 (GRCm39) E615G probably null Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cpxm2 C T 7: 131,681,820 (GRCm39) M236I probably benign Het
Dhrs2 A T 14: 55,472,205 (GRCm39) N32I probably benign Het
Fam131a G A 16: 20,514,608 (GRCm39) V70M probably benign Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fbxl15 G C 19: 46,317,891 (GRCm39) R191P possibly damaging Het
Fcrlb T C 1: 170,735,183 (GRCm39) T315A probably benign Het
Fer1l4 C T 2: 155,887,603 (GRCm39) G531D probably damaging Het
Gem C T 4: 11,705,965 (GRCm39) Q18* probably null Het
Hemk1 T A 9: 107,214,229 (GRCm39) I68F probably damaging Het
Herc3 C A 6: 58,893,835 (GRCm39) H970Q probably damaging Het
Ighv5-17 C A 12: 113,822,918 (GRCm39) A68S probably benign Het
Ip6k3 T C 17: 27,363,974 (GRCm39) H358R probably damaging Het
Itpr2 T C 6: 146,133,789 (GRCm39) probably null Het
Kmt2a C T 9: 44,731,653 (GRCm39) probably benign Het
Krt16 G T 11: 100,139,566 (GRCm39) R51S unknown Het
Lamtor1 G A 7: 101,560,552 (GRCm39) V156I probably damaging Het
Lingo4 A G 3: 94,309,407 (GRCm39) D115G probably damaging Het
Lrrc7 T C 3: 157,891,130 (GRCm39) I346V probably benign Het
Maco1 C T 4: 134,557,891 (GRCm39) M207I probably benign Het
Man1c1 A T 4: 134,430,662 (GRCm39) L40Q probably damaging Het
Mgat4c A G 10: 102,224,221 (GRCm39) N145S probably benign Het
Morf4l1 A G 9: 89,977,196 (GRCm39) S203P probably benign Het
Muc5ac T C 7: 141,367,471 (GRCm39) I2964T possibly damaging Het
Naip2 T A 13: 100,289,142 (GRCm39) Q1196L possibly damaging Het
Nbas G A 12: 13,532,505 (GRCm39) G1738S probably damaging Het
Nlrp5 A G 7: 23,104,271 (GRCm39) E44G probably benign Het
Nolc1 CCAGCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,069,791 (GRCm39) probably benign Het
Or4ac1-ps1 A T 2: 88,370,700 (GRCm39) noncoding transcript Het
Or5d18 A G 2: 87,864,911 (GRCm39) S191P possibly damaging Het
Otof T A 5: 30,543,843 (GRCm39) probably null Het
Pcdha2 G A 18: 37,072,582 (GRCm39) R71H probably benign Het
Pcdha2 G T 18: 37,074,744 (GRCm39) E792* probably null Het
Pcnx1 A G 12: 81,996,911 (GRCm39) T936A possibly damaging Het
Pofut2 T C 10: 77,096,640 (GRCm39) Y122H probably damaging Het
Psg16 A G 7: 16,824,609 (GRCm39) E131G probably benign Het
Psmd12 T G 11: 107,386,591 (GRCm39) D387E probably benign Het
Rab6a A G 7: 100,257,431 (GRCm39) M1V probably null Het
Ripk3 T C 14: 56,023,725 (GRCm39) R29G probably benign Het
Robo4 A T 9: 37,315,734 (GRCm39) D329V possibly damaging Het
Ruvbl2 A G 7: 45,071,614 (GRCm39) V423A possibly damaging Het
Rxylt1 A T 10: 121,917,514 (GRCm39) V333E possibly damaging Het
Scgb2b18 T G 7: 32,872,563 (GRCm39) M81L probably benign Het
Slc24a2 A T 4: 87,146,021 (GRCm39) L11H possibly damaging Het
Syt16 A G 12: 74,276,172 (GRCm39) E212G possibly damaging Het
Them6 A G 15: 74,593,367 (GRCm39) D75G probably damaging Het
Tnrc18 G A 5: 142,773,029 (GRCm39) A417V unknown Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Zbtb22 C T 17: 34,135,920 (GRCm39) probably benign Het
Zfp235 A G 7: 23,840,046 (GRCm39) D225G probably benign Het
Other mutations in Slc4a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01303:Slc4a1 APN 11 102,248,790 (GRCm39) missense probably benign 0.09
IGL01845:Slc4a1 APN 11 102,244,729 (GRCm39) missense probably benign 0.01
IGL02166:Slc4a1 APN 11 102,245,159 (GRCm39) missense probably damaging 1.00
IGL02745:Slc4a1 APN 11 102,247,093 (GRCm39) missense probably damaging 1.00
IGL02801:Slc4a1 APN 11 102,249,972 (GRCm39) critical splice acceptor site probably null
Rumor UTSW 11 102,252,048 (GRCm39) nonsense probably null
A5278:Slc4a1 UTSW 11 102,244,641 (GRCm39) splice site probably benign
R0011:Slc4a1 UTSW 11 102,247,936 (GRCm39) missense possibly damaging 0.51
R0193:Slc4a1 UTSW 11 102,243,510 (GRCm39) missense possibly damaging 0.91
R0445:Slc4a1 UTSW 11 102,245,192 (GRCm39) missense probably benign 0.04
R0599:Slc4a1 UTSW 11 102,248,741 (GRCm39) splice site probably benign
R0635:Slc4a1 UTSW 11 102,243,498 (GRCm39) missense possibly damaging 0.78
R1496:Slc4a1 UTSW 11 102,251,997 (GRCm39) missense probably benign
R1816:Slc4a1 UTSW 11 102,242,056 (GRCm39) missense probably damaging 1.00
R1898:Slc4a1 UTSW 11 102,241,133 (GRCm39) missense probably damaging 1.00
R2361:Slc4a1 UTSW 11 102,247,656 (GRCm39) missense probably damaging 1.00
R2381:Slc4a1 UTSW 11 102,250,128 (GRCm39) missense probably benign 0.00
R3857:Slc4a1 UTSW 11 102,247,947 (GRCm39) missense probably benign 0.01
R3858:Slc4a1 UTSW 11 102,247,947 (GRCm39) missense probably benign 0.01
R4585:Slc4a1 UTSW 11 102,252,245 (GRCm39) utr 5 prime probably benign
R4586:Slc4a1 UTSW 11 102,252,245 (GRCm39) utr 5 prime probably benign
R4705:Slc4a1 UTSW 11 102,247,084 (GRCm39) missense possibly damaging 0.89
R4914:Slc4a1 UTSW 11 102,243,279 (GRCm39) missense probably damaging 1.00
R4915:Slc4a1 UTSW 11 102,243,279 (GRCm39) missense probably damaging 1.00
R4916:Slc4a1 UTSW 11 102,243,279 (GRCm39) missense probably damaging 1.00
R4918:Slc4a1 UTSW 11 102,243,279 (GRCm39) missense probably damaging 1.00
R5001:Slc4a1 UTSW 11 102,242,329 (GRCm39) missense probably benign 0.12
R5103:Slc4a1 UTSW 11 102,244,087 (GRCm39) missense possibly damaging 0.65
R5234:Slc4a1 UTSW 11 102,252,209 (GRCm39) missense probably benign 0.03
R5308:Slc4a1 UTSW 11 102,249,903 (GRCm39) missense probably damaging 0.98
R5315:Slc4a1 UTSW 11 102,249,080 (GRCm39) missense possibly damaging 0.77
R5478:Slc4a1 UTSW 11 102,241,140 (GRCm39) missense probably damaging 0.98
R5521:Slc4a1 UTSW 11 102,244,092 (GRCm39) missense probably benign 0.01
R5888:Slc4a1 UTSW 11 102,247,351 (GRCm39) missense probably damaging 0.98
R6011:Slc4a1 UTSW 11 102,243,357 (GRCm39) missense probably damaging 1.00
R6547:Slc4a1 UTSW 11 102,247,561 (GRCm39) missense probably damaging 0.99
R6629:Slc4a1 UTSW 11 102,252,048 (GRCm39) nonsense probably null
R6717:Slc4a1 UTSW 11 102,245,249 (GRCm39) missense probably damaging 0.99
R7051:Slc4a1 UTSW 11 102,247,084 (GRCm39) missense probably benign 0.12
R7103:Slc4a1 UTSW 11 102,244,693 (GRCm39) missense probably damaging 0.97
R7315:Slc4a1 UTSW 11 102,247,310 (GRCm39) missense probably damaging 1.00
R7331:Slc4a1 UTSW 11 102,252,245 (GRCm39) start gained probably benign
R7582:Slc4a1 UTSW 11 102,243,403 (GRCm39) missense probably damaging 0.99
R8560:Slc4a1 UTSW 11 102,244,083 (GRCm39) missense possibly damaging 0.94
R9036:Slc4a1 UTSW 11 102,243,279 (GRCm39) missense probably damaging 1.00
R9274:Slc4a1 UTSW 11 102,242,047 (GRCm39) missense probably benign 0.00
R9502:Slc4a1 UTSW 11 102,247,674 (GRCm39) missense probably damaging 0.97
R9568:Slc4a1 UTSW 11 102,247,680 (GRCm39) missense probably damaging 1.00
R9585:Slc4a1 UTSW 11 102,247,915 (GRCm39) missense probably benign 0.08
R9651:Slc4a1 UTSW 11 102,242,256 (GRCm39) missense probably damaging 1.00
RF006:Slc4a1 UTSW 11 102,247,542 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AAACCTTGTCCGTGTACCTAG -3'
(R):5'- AGCTACACATGTCCAGGTCC -3'

Sequencing Primer
(F):5'- CCGTGTACCTAGAGTGTTGTACAAG -3'
(R):5'- TCTATGTAGCCCAGGATCGC -3'
Posted On 2015-04-02