Incidental Mutation 'R6717:Slc4a1'
ID 529448
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 044835-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6717 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 102239646-102256107 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102245249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 566 (Y566C)
Ref Sequence ENSEMBL: ENSMUSP00000006749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006749]
AlphaFold P04919
Predicted Effect probably damaging
Transcript: ENSMUST00000006749
AA Change: Y566C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000006749
Gene: ENSMUSG00000006574
AA Change: Y566C

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: ENSMUST00000149993
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency 98% (47/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 C T 5: 4,114,086 (GRCm39) L3122F probably damaging Het
Atp6v1b1 A T 6: 83,730,632 (GRCm39) probably null Het
Ccdc178 A T 18: 22,153,946 (GRCm39) V621E probably damaging Het
Cfap126 T C 1: 170,941,671 (GRCm39) probably null Het
Cog2 T C 8: 125,252,488 (GRCm39) I64T probably damaging Het
Dhx9 A C 1: 153,349,210 (GRCm39) probably null Het
Efcab7 A G 4: 99,761,931 (GRCm39) D407G possibly damaging Het
Eif2b5 G T 16: 20,324,033 (GRCm39) G459C probably damaging Het
Eml5 T C 12: 98,793,765 (GRCm39) E1168G probably damaging Het
Flnc AGCTGTCAAGTATGCTG AGCTG 6: 29,450,901 (GRCm39) probably benign Het
Fry A G 5: 150,419,777 (GRCm39) T980A probably benign Het
Gabbr2 A G 4: 46,787,574 (GRCm39) V363A possibly damaging Het
Ggt6 T A 11: 72,328,346 (GRCm39) L244* probably null Het
Gprc6a T A 10: 51,491,233 (GRCm39) I768F probably damaging Het
Grk1 G A 8: 13,466,237 (GRCm39) M560I probably benign Het
Hapln4 G A 8: 70,537,740 (GRCm39) E145K probably damaging Het
Hoxd9 C T 2: 74,528,733 (GRCm39) P112S probably benign Het
Ly6g6f T A 17: 35,304,550 (GRCm39) M1L probably benign Het
Mast1 T C 8: 85,644,383 (GRCm39) T849A probably benign Het
Mob4 A T 1: 55,175,872 (GRCm39) M39L possibly damaging Het
Mrgpre A T 7: 143,335,260 (GRCm39) L81Q probably damaging Het
Mst1 T C 9: 107,957,774 (GRCm39) probably null Het
Muc5b A T 7: 141,411,559 (GRCm39) R1502* probably null Het
Or4b13 T A 2: 90,082,868 (GRCm39) I155L probably benign Het
Or5ap2 T A 2: 85,680,567 (GRCm39) I257N probably damaging Het
Or9e1 T C 11: 58,732,113 (GRCm39) Y58H probably damaging Het
Pdc A G 1: 150,208,769 (GRCm39) D84G probably damaging Het
Peak1 T C 9: 56,114,523 (GRCm39) N443D probably benign Het
Pkd1l3 T A 8: 110,341,401 (GRCm39) W85R unknown Het
Pramel31 G T 4: 144,089,227 (GRCm39) V182L probably benign Het
Rfc1 G A 5: 65,459,347 (GRCm39) Q190* probably null Het
Rfc1 A G 5: 65,470,304 (GRCm39) S68P probably damaging Het
Rnf145 T C 11: 44,452,317 (GRCm39) V432A probably benign Het
Ror2 A G 13: 53,273,018 (GRCm39) S204P probably damaging Het
Scn1a T C 2: 66,162,631 (GRCm39) E205G probably damaging Het
Slc2a8 A C 2: 32,866,189 (GRCm39) M277R probably damaging Het
Slc6a12 A G 6: 121,331,262 (GRCm39) N185S probably benign Het
Srcap GCTCCTCCTCCTCCTCCT GCTCCTCCTCCTCCT 7: 127,157,482 (GRCm39) probably benign Het
Stk33 T A 7: 108,926,823 (GRCm39) T279S possibly damaging Het
Taok3 A G 5: 117,379,015 (GRCm39) probably benign Het
Tlr11 A G 14: 50,599,561 (GRCm39) T516A probably benign Het
Tmem132c T A 5: 127,641,093 (GRCm39) L1088Q possibly damaging Het
Tmem132d T A 5: 127,861,485 (GRCm39) M879L probably benign Het
Tnk2 A G 16: 32,489,687 (GRCm39) E322G probably damaging Het
Ttc28 T C 5: 111,433,302 (GRCm39) V2081A probably benign Het
Ttn C T 2: 76,624,753 (GRCm39) probably null Het
Zfp105 T C 9: 122,759,373 (GRCm39) V348A possibly damaging Het
Zswim2 T C 2: 83,745,753 (GRCm39) R562G 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
R3806:Slc4a1 UTSW 11 102,248,019 (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
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

Sequencing Primer
Posted On 2018-08-01