Incidental Mutation 'R4914:Slc4a1'
ID 379848
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 042516-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4914 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 102239646-102256107 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102243279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 784 (V784A)
Ref Sequence ENSEMBL: ENSMUSP00000006749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006749]
AlphaFold P04919
Predicted Effect probably damaging
Transcript: ENSMUST00000006749
AA Change: V784A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000006749
Gene: ENSMUSG00000006574
AA Change: V784A

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
Meta Mutation Damage Score 0.6729 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace G A 11: 105,870,423 (GRCm39) V281M probably damaging Het
Ap1b1 C T 11: 4,974,400 (GRCm39) T363I possibly damaging Het
Apobec2 T C 17: 48,730,153 (GRCm39) E171G probably benign Het
Arhgef1 T A 7: 24,623,264 (GRCm39) L436Q probably damaging Het
Atxn2 T A 5: 121,887,159 (GRCm39) D276E probably damaging Het
AU040320 A T 4: 126,729,469 (GRCm39) K544* probably null Het
Baz2b T A 2: 59,744,387 (GRCm39) T1373S possibly damaging Het
Bcas1 T C 2: 170,220,806 (GRCm39) D324G probably damaging Het
Bdp1 A G 13: 100,192,844 (GRCm39) V1330A probably benign Het
Bfsp1 C T 2: 143,669,391 (GRCm39) R396Q probably benign Het
Bpifb9b T A 2: 154,156,026 (GRCm39) probably null Het
Cabs1 T C 5: 88,128,296 (GRCm39) Y316H probably damaging Het
Carmil2 A G 8: 106,420,175 (GRCm39) K908E possibly damaging Het
Ccdc188 C A 16: 18,036,083 (GRCm39) P86Q probably benign Het
Cdh26 T C 2: 178,091,614 (GRCm39) S58P probably benign Het
Cemip2 G A 19: 21,786,653 (GRCm39) V472I probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dclk2 A T 3: 86,732,049 (GRCm39) probably null Het
Dennd5a A G 7: 109,500,296 (GRCm39) F943S probably damaging Het
Disp2 A T 2: 118,620,935 (GRCm39) S556C probably damaging Het
Dnai3 A G 3: 145,772,582 (GRCm39) I488T probably damaging Het
Dpp4 A T 2: 62,178,236 (GRCm39) M632K probably benign Het
E030030I06Rik G A 10: 21,990,197 (GRCm39) T192M possibly damaging Het
Ece2 C T 16: 20,462,820 (GRCm39) R582C probably damaging Het
Ehbp1 T C 11: 22,096,592 (GRCm39) D299G probably benign Het
Emc1 C T 4: 139,102,476 (GRCm39) R924* probably null Het
Etaa1 A T 11: 17,896,532 (GRCm39) S528R probably benign Het
Exoc2 A T 13: 31,060,796 (GRCm39) N569K probably benign Het
Fasn T G 11: 120,707,472 (GRCm39) N799T probably benign Het
Fbxo3 T G 2: 103,885,311 (GRCm39) N388K probably damaging Het
Fbxw16 C T 9: 109,267,245 (GRCm39) V329I probably benign Het
Fer1l4 T C 2: 155,873,220 (GRCm39) K1287E probably benign Het
Fermt1 A G 2: 132,748,760 (GRCm39) V621A probably damaging Het
Fnbp4 A G 2: 90,581,513 (GRCm39) T189A probably benign Het
Fut8 G T 12: 77,521,818 (GRCm39) A486S probably damaging Het
G6pd2 T A 5: 61,967,672 (GRCm39) Y482* probably null Het
Gfra1 A T 19: 58,255,522 (GRCm39) S308R probably damaging Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Gper1 A G 5: 139,412,623 (GRCm39) I323V probably benign Het
Grm5 C A 7: 87,779,337 (GRCm39) R958S probably benign Het
H2-DMb2 A G 17: 34,369,503 (GRCm39) T85A probably benign Het
Hgsnat A G 8: 26,454,866 (GRCm39) S220P probably damaging Het
Hspa12a A T 19: 58,787,884 (GRCm39) M646K probably damaging Het
Inpp5f A T 7: 128,286,840 (GRCm39) D573V probably damaging Het
Jmjd1c A G 10: 67,054,750 (GRCm39) N344D probably damaging Het
Kif1c A G 11: 70,599,681 (GRCm39) E471G probably damaging Het
Lalba T A 15: 98,380,061 (GRCm39) N63I probably benign Het
Mcoln1 T A 8: 3,557,483 (GRCm39) L163* probably null Het
Mllt1 T C 17: 57,206,813 (GRCm39) T344A probably benign Het
Mpzl2 T A 9: 44,955,146 (GRCm39) D114E probably benign Het
Myef2 T A 2: 124,951,659 (GRCm39) K259* probably null Het
Myh8 C A 11: 67,183,510 (GRCm39) D740E probably damaging Het
Myo1b A T 1: 51,863,367 (GRCm39) probably null Het
Nfix T C 8: 85,498,458 (GRCm39) I172V probably benign Het
Or1b1 A T 2: 36,995,170 (GRCm39) I164N possibly damaging Het
Or2h2 T C 17: 37,396,883 (GRCm39) Y58C probably damaging Het
Or2w1b A T 13: 21,300,567 (GRCm39) Q235L probably benign Het
Or3a1b A T 11: 74,012,705 (GRCm39) I197F probably benign Het
Or5b106 T A 19: 13,123,355 (GRCm39) I223L possibly damaging Het
Orc1 T C 4: 108,461,755 (GRCm39) F584S probably damaging Het
Osgin1 C A 8: 120,169,283 (GRCm39) A60D possibly damaging Het
Pde4dip C A 3: 97,622,644 (GRCm39) V1522L probably benign Het
Phactr1 A G 13: 43,287,439 (GRCm39) T556A possibly damaging Het
Ppfia2 G C 10: 106,597,978 (GRCm39) L180F probably damaging Het
Ppm1k T A 6: 57,487,762 (GRCm39) N354Y probably damaging Het
Ppp1r1a A G 15: 103,446,265 (GRCm39) V14A probably damaging Het
Prkcd A T 14: 30,327,395 (GRCm39) probably null Het
Ranbp17 T C 11: 33,163,425 (GRCm39) S1082G probably benign Het
Rere T A 4: 150,703,601 (GRCm39) W1528R probably damaging Het
Rnf103 T A 6: 71,487,248 (GRCm39) F626L possibly damaging Het
Rsrc2 A G 5: 123,877,613 (GRCm39) probably benign Het
Scin T A 12: 40,119,373 (GRCm39) I552F possibly damaging Het
Scn3a T C 2: 65,291,799 (GRCm39) N1649S probably damaging Het
Slain2 T A 5: 73,115,609 (GRCm39) M448K probably benign Het
Slc25a54 T C 3: 109,018,395 (GRCm39) F292L probably benign Het
Slco1b2 G A 6: 141,615,096 (GRCm39) V334I probably benign Het
Slf2 T G 19: 44,960,100 (GRCm39) D1022E probably damaging Het
Smg8 T C 11: 86,971,536 (GRCm39) E745G probably damaging Het
Smyd1 T G 6: 71,196,321 (GRCm39) I322L probably benign Het
Snx13 G A 12: 35,182,032 (GRCm39) V694I possibly damaging Het
Sox6 T C 7: 115,076,199 (GRCm39) D814G probably damaging Het
Spag6 A T 2: 18,750,360 (GRCm39) I469F probably benign Het
Spsb2 A C 6: 124,786,711 (GRCm39) E148A probably benign Het
Srprb C A 9: 103,079,147 (GRCm39) V747L possibly damaging Het
Stam A G 2: 14,107,227 (GRCm39) E16G probably damaging Het
Taar5 A T 10: 23,847,468 (GRCm39) I289F possibly damaging Het
Tgif1 C T 17: 71,152,242 (GRCm39) R70H probably damaging Het
Top2a A T 11: 98,893,786 (GRCm39) L1036H probably damaging Het
Tph1 T A 7: 46,303,283 (GRCm39) I232F probably damaging Het
Ttn T C 2: 76,577,175 (GRCm39) T24573A probably damaging Het
Tub C T 7: 108,620,161 (GRCm39) R102* probably null Het
Ube2n T A 10: 95,377,607 (GRCm39) W129R possibly damaging Het
Usp8 A T 2: 126,562,060 (GRCm39) K85* probably null Het
Vmn2r81 A T 10: 79,106,357 (GRCm39) K445M probably null Het
Vps45 T C 3: 95,926,943 (GRCm39) T535A probably damaging Het
Zfp1007 A G 5: 109,826,396 (GRCm39) S59P probably damaging Het
Zfp157 T C 5: 138,454,557 (GRCm39) S252P possibly damaging Het
Zfp605 T A 5: 110,275,567 (GRCm39) C228* probably null Het
Zfp791 T A 8: 85,837,580 (GRCm39) I95L 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
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'- CCTGGACAGATACAGATGGC -3'
(R):5'- TGATCAAGGGCTCTGGCTTC -3'

Sequencing Primer
(F):5'- GCATGGGAGCCTCATTCC -3'
(R):5'- ACCTGGACCTGTTGCTGGTC -3'
Posted On 2016-04-15