Incidental Mutation 'R5521:Slc4a1'
ID 431568
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 043080-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5521 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 102239646-102256107 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102244092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 679 (T679M)
Ref Sequence ENSEMBL: ENSMUSP00000006749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006749]
AlphaFold P04919
Predicted Effect probably benign
Transcript: ENSMUST00000006749
AA Change: T679M

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000006749
Gene: ENSMUSG00000006574
AA Change: T679M

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.5%
  • 10x: 94.4%
  • 20x: 87.5%
Validation Efficiency 94% (72/77)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,190,980 (GRCm39) probably benign Het
Abhd14a G T 9: 106,321,033 (GRCm39) D107E probably damaging Het
Acat1 T A 9: 53,494,807 (GRCm39) K362* probably null Het
Adad2 T A 8: 120,339,528 (GRCm39) S3R probably benign Het
Adcy8 C A 15: 64,687,199 (GRCm39) R435M probably damaging Het
Adgrv1 A T 13: 81,567,508 (GRCm39) S5222T probably benign Het
Ankk1 A T 9: 49,331,748 (GRCm39) M182K probably benign Het
Apba1 C T 19: 23,870,957 (GRCm39) P263L probably damaging Het
Arhgap39 G A 15: 76,649,694 (GRCm39) S26L possibly damaging Het
Ccng1 G A 11: 40,643,093 (GRCm39) T118I possibly damaging Het
Cenpe T C 3: 134,974,826 (GRCm39) S2329P probably damaging Het
Chil4 A G 3: 106,111,013 (GRCm39) Y294H possibly damaging Het
Chst8 A C 7: 34,374,670 (GRCm39) S390A probably benign Het
Dars1 T C 1: 128,301,710 (GRCm39) D308G probably benign Het
Dlec1 A C 9: 118,972,469 (GRCm39) Q1458P possibly damaging Het
Dvl2 G A 11: 69,897,233 (GRCm39) E312K probably damaging Het
Fchsd1 T C 18: 38,099,537 (GRCm39) H219R probably damaging Het
Foxd4 A C 19: 24,877,007 (GRCm39) C398G probably damaging Het
Gm10719 T A 9: 3,018,970 (GRCm39) F72I probably damaging Het
Gm5414 T C 15: 101,536,422 (GRCm39) I68V probably benign Het
Gmip C T 8: 70,270,049 (GRCm39) T684I probably damaging Het
Gpr137c T C 14: 45,516,151 (GRCm39) I295T possibly damaging Het
Hivep1 T A 13: 42,311,804 (GRCm39) M1348K probably damaging Het
Igkv6-23 T C 6: 70,237,597 (GRCm39) D48G probably benign Het
Il3 G A 11: 54,157,958 (GRCm39) T40M possibly damaging Het
Ing2 T C 8: 48,122,248 (GRCm39) E100G probably damaging Het
Itpr3 C A 17: 27,326,308 (GRCm39) H1359Q probably benign Het
Lama1 T A 17: 68,087,889 (GRCm39) Y1502* probably null Het
Mamdc2 C A 19: 23,288,302 (GRCm39) G579W probably damaging Het
Mapk6 G A 9: 75,300,598 (GRCm39) probably benign Het
Mapk8ip2 C T 15: 89,343,007 (GRCm39) R616W probably damaging Het
Mc5r T A 18: 68,472,748 (GRCm39) L369H possibly damaging Het
Meis1 T C 11: 18,938,260 (GRCm39) probably benign Het
Mmp8 A G 9: 7,560,644 (GRCm39) K107R probably benign Het
Mn1 C T 5: 111,569,635 (GRCm39) H1202Y possibly damaging Het
Naip2 A G 13: 100,291,422 (GRCm39) L1172P probably damaging Het
Nek9 C T 12: 85,374,219 (GRCm39) D273N probably benign Het
Nlrp4e A T 7: 23,021,190 (GRCm39) D559V probably benign Het
Nlrp4g T C 9: 124,350,020 (GRCm38) noncoding transcript Het
Oit3 G T 10: 59,271,736 (GRCm39) A207E probably benign Het
Or13j1 A T 4: 43,705,788 (GRCm39) M260K possibly damaging Het
Or14a257 A T 7: 86,137,839 (GRCm39) C307S probably benign Het
Or4d2b A T 11: 87,780,545 (GRCm39) M59K probably damaging Het
Or5w16 A G 2: 87,577,406 (GRCm39) I289V probably benign Het
Pde4c T C 8: 71,200,031 (GRCm39) probably null Het
Ppp1r26 A G 2: 28,341,438 (GRCm39) E356G probably benign Het
Pramel13 A G 4: 144,122,541 (GRCm39) M1T probably null Het
Ptges3-ps T A 6: 85,821,303 (GRCm39) noncoding transcript Het
Ptpn13 T G 5: 103,649,294 (GRCm39) F232L probably benign Het
Reps1 T C 10: 17,979,982 (GRCm39) S114P probably damaging Het
Scarf2 T A 16: 17,621,466 (GRCm39) probably null Het
Sdha A T 13: 74,498,218 (GRCm39) probably benign Het
Secisbp2l A T 2: 125,594,897 (GRCm39) V146D possibly damaging Het
Slc26a8 T A 17: 28,873,833 (GRCm39) T385S probably benign Het
Tbc1d14 T A 5: 36,677,896 (GRCm39) E353V probably damaging Het
Thap2 T A 10: 115,208,665 (GRCm39) K152* probably null Het
Thbd A T 2: 148,249,655 (GRCm39) I71N probably damaging Het
V1ra8 T A 6: 90,180,036 (GRCm39) W80R probably damaging Het
Vmn1r218 A G 13: 23,320,743 (GRCm39) Y30C probably benign Het
Vmn2r60 C A 7: 41,845,049 (GRCm39) T804K probably damaging Het
Vmn2r68 A T 7: 84,882,926 (GRCm39) D275E probably benign Het
Vps13c A G 9: 67,858,721 (GRCm39) I2724V probably benign Het
Xrcc5 C A 1: 72,385,430 (GRCm39) P507Q probably damaging Het
Zfp120 A T 2: 149,959,499 (GRCm39) Y274* probably null Het
Zfp780b C A 7: 27,674,173 (GRCm39) probably null 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
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'- GACCTGCCTCTGATACTCCAAC -3'
(R):5'- ATGCCCGATGAGCATTTCCAC -3'

Sequencing Primer
(F):5'- GCCTCTGATACTCCAACACTCC -3'
(R):5'- GATGAGCATTTCCACCCAATTC -3'
Posted On 2016-10-05