Incidental Mutation 'R6547:Slc4a1'
ID 521311
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 044672-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6547 (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 A at 102247561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 441 (T441S)
Ref Sequence ENSEMBL: ENSMUSP00000006749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006749]
AlphaFold P04919
Predicted Effect probably damaging
Transcript: ENSMUST00000006749
AA Change: T441S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000006749
Gene: ENSMUSG00000006574
AA Change: T441S

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 98% (53/54)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,490,251 (GRCm39) probably benign Het
Abca13 T A 11: 9,224,757 (GRCm39) V490E probably benign Het
Abca2 G T 2: 25,323,350 (GRCm39) G106V possibly damaging Het
Ablim3 T C 18: 61,957,000 (GRCm39) T276A probably benign Het
Anxa7 A G 14: 20,519,461 (GRCm39) V119A probably benign Het
Arl9 A G 5: 77,158,257 (GRCm39) probably null Het
Atm T C 9: 53,351,457 (GRCm39) Y2964C probably damaging Het
Bbs9 T C 9: 22,425,365 (GRCm39) Y140H probably benign Het
Calcr A T 6: 3,717,177 (GRCm39) D94E probably damaging Het
Celsr3 T A 9: 108,706,327 (GRCm39) Y937N probably damaging Het
Cemip2 A T 19: 21,822,195 (GRCm39) T1197S probably benign Het
Clca3a1 C T 3: 144,442,708 (GRCm39) A779T probably damaging Het
Clec9a T A 6: 129,393,339 (GRCm39) V94D probably benign Het
Colec12 G T 18: 9,840,351 (GRCm39) L57F probably damaging Het
Fa2h T C 8: 112,074,652 (GRCm39) Y317C probably damaging Het
Flnc A G 6: 29,448,607 (GRCm39) T1282A probably damaging Het
Gm10801 AAGT AAGTAGT 2: 98,494,148 (GRCm39) probably null Het
Hcn2 G T 10: 79,552,986 (GRCm39) V162L probably benign Het
Hycc1 T C 5: 24,170,098 (GRCm39) N417S probably benign Het
Kbtbd11 T A 8: 15,077,641 (GRCm39) V80E possibly damaging Het
Lama4 A G 10: 38,949,652 (GRCm39) D915G probably damaging Het
Limch1 A T 5: 67,186,117 (GRCm39) E806V probably damaging Het
Mppe1 T C 18: 67,362,059 (GRCm39) I169V probably benign Het
Msc A C 1: 14,825,969 (GRCm39) S2A possibly damaging Het
Nploc4 A G 11: 120,319,348 (GRCm39) probably null Het
Nr3c2 A T 8: 77,635,438 (GRCm39) I180F possibly damaging Het
Nrap G T 19: 56,339,998 (GRCm39) H840N probably benign Het
Or8a1 T A 9: 37,641,791 (GRCm39) M163L probably benign Het
Pate13 T A 9: 35,819,781 (GRCm39) M15K probably null Het
Pdlim1 G A 19: 40,211,564 (GRCm39) T243I probably damaging Het
Pfkl T A 10: 77,831,188 (GRCm39) M318L probably benign Het
Rap1gds1 C A 3: 138,661,099 (GRCm39) R426L probably damaging Het
Ric1 A G 19: 29,572,226 (GRCm39) N674D probably damaging Het
Rp1 G A 1: 4,240,528 (GRCm39) T875I unknown Het
Rtn1 G T 12: 72,355,535 (GRCm39) S137Y possibly damaging Het
Scn2a A G 2: 65,546,241 (GRCm39) I935V probably benign Het
Serpina1a C T 12: 103,822,180 (GRCm39) V251M probably damaging Het
Slc19a3 A G 1: 83,000,621 (GRCm39) V132A probably damaging Het
Slc26a6 T A 9: 108,737,981 (GRCm39) probably null Het
Slc2a5 T A 4: 150,220,076 (GRCm39) V164D possibly damaging Het
Stk33 T C 7: 108,920,042 (GRCm39) I366V possibly damaging Het
Syt14 G T 1: 192,584,177 (GRCm39) H696N possibly damaging Het
Tcaim T A 9: 122,643,531 (GRCm39) V77D probably benign Het
Tefm T G 11: 80,031,210 (GRCm39) probably null Het
Tekt3 T A 11: 62,961,304 (GRCm39) S158T possibly damaging Het
Tspan11 T A 6: 127,926,766 (GRCm39) M238K possibly damaging Het
Unc5c A T 3: 141,495,780 (GRCm39) T476S probably benign Het
Usp9y A T Y: 1,444,612 (GRCm39) L109Q probably damaging Homo
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vps13c C A 9: 67,880,647 (GRCm39) Q3495K probably damaging Het
Zbtb10 G A 3: 9,316,763 (GRCm39) A192T probably benign Het
Zfp316 A T 5: 143,239,952 (GRCm39) V689D probably damaging Het
Zswim1 A G 2: 164,666,716 (GRCm39) probably benign Het
Zswim5 T C 4: 116,844,100 (GRCm39) L1046P probably damaging 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
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'- TGCCATACAGGGATCAAGATGG -3'
(R):5'- TCCTCTACAACAGACTTGAACGG -3'

Sequencing Primer
(F):5'- TCAAGATGGAGAGATTAGTTTCGG -3'
(R):5'- CAACAGACTTGAACGGGGGAAAAG -3'
Posted On 2018-06-06