Incidental Mutation 'R5103:Slc4a1'
ID 392502
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 042691-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5103 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 102239646-102256107 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102244087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 681 (M681V)
Ref Sequence ENSEMBL: ENSMUSP00000006749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006749]
AlphaFold P04919
Predicted Effect possibly damaging
Transcript: ENSMUST00000006749
AA Change: M681V

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000006749
Gene: ENSMUSG00000006574
AA Change: M681V

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 0.3833 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 99% (82/83)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G A 5: 31,051,345 (GRCm39) R518H probably damaging Het
Agfg1 T C 1: 82,871,288 (GRCm39) S486P probably damaging Het
Arhgap18 A G 10: 26,745,978 (GRCm39) D283G probably damaging Het
Asb1 A G 1: 91,480,066 (GRCm39) N162S possibly damaging Het
Capn1 A G 19: 6,059,140 (GRCm39) Y274H probably damaging Het
Cdk5 A T 5: 24,627,833 (GRCm39) V30E probably damaging Het
Cep290 T G 10: 100,374,882 (GRCm39) L1376W probably damaging Het
Crybg1 T A 10: 43,873,944 (GRCm39) T1055S probably damaging Het
Cyp2c70 A G 19: 40,149,076 (GRCm39) Y357H probably damaging Het
Dlx6 AGG AG 6: 6,865,180 (GRCm39) probably null Het
Eml6 T A 11: 29,800,905 (GRCm39) E367V possibly damaging Het
Emp1 A G 6: 135,358,073 (GRCm39) T140A probably benign Het
Ergic3 T C 2: 155,850,545 (GRCm39) V74A probably benign Het
Fancm A T 12: 65,152,632 (GRCm39) L1029F probably damaging Het
Fank1 C A 7: 133,478,570 (GRCm39) C210* probably null Het
Fbxo31 T C 8: 122,279,101 (GRCm39) D462G probably damaging Het
Frem1 G A 4: 82,909,849 (GRCm39) A736V probably benign Het
Fshr T C 17: 89,404,796 (GRCm39) T56A possibly damaging Het
Gm5901 A T 7: 105,026,589 (GRCm39) probably null Het
Golga2 A G 2: 32,193,758 (GRCm39) E458G probably benign Het
Grik2 T A 10: 49,372,205 (GRCm39) I335F probably benign Het
Grin1 T A 2: 25,200,433 (GRCm39) M230L probably benign Het
Gtf2f1 C T 17: 57,311,519 (GRCm39) G297D probably damaging Het
H2-T5 T C 17: 36,472,577 (GRCm39) probably benign Het
Hacd1 T C 2: 14,045,724 (GRCm39) T136A probably damaging Het
Hdac5 T A 11: 102,087,109 (GRCm39) S24C probably damaging Het
Jtb T C 3: 90,139,394 (GRCm39) probably benign Het
Kif1a C T 1: 92,974,418 (GRCm39) G979E probably damaging Het
Mark2 T C 19: 7,261,868 (GRCm39) M345V probably damaging Het
Mfsd14b A G 13: 65,234,907 (GRCm39) V90A possibly damaging Het
Micu1 T C 10: 59,624,806 (GRCm39) Y283H possibly damaging Het
Mmp2 C T 8: 93,558,413 (GRCm39) R161* probably null Het
Mrpl2 G A 17: 46,960,964 (GRCm39) R286Q probably benign Het
Msh5 T C 17: 35,248,215 (GRCm39) I783V possibly damaging Het
Myo3b T A 2: 69,926,747 (GRCm39) F65I probably benign Het
Nat10 C A 2: 103,587,605 (GRCm39) V37L probably damaging Het
Nlrp1a T A 11: 70,990,352 (GRCm39) T967S probably damaging Het
Nolc1 A T 19: 46,070,103 (GRCm39) K291* probably null Het
Or1j18 A T 2: 36,624,680 (GRCm39) T116S probably benign Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or8d2b G T 9: 38,788,872 (GRCm39) M133I probably damaging Het
Or8u8 C A 2: 86,011,960 (GRCm39) R165L probably benign Het
Paip1 A G 13: 119,574,515 (GRCm39) E70G possibly damaging Het
Palmd T A 3: 116,721,070 (GRCm39) E127V probably damaging Het
Paqr6 T A 3: 88,275,024 (GRCm39) C262* probably null Het
Pdcd11 A G 19: 47,112,893 (GRCm39) H1301R probably benign Het
Plce1 C A 19: 38,755,659 (GRCm39) D1896E probably damaging Het
Ppib A G 9: 65,968,747 (GRCm39) probably null Het
Pzp C T 6: 128,479,192 (GRCm39) V654M probably benign Het
Rab26 T C 17: 24,753,071 (GRCm39) probably benign Het
Recql4 A G 15: 76,590,956 (GRCm39) L468P probably damaging Het
Retreg1 C T 15: 25,968,540 (GRCm39) Q65* probably null Het
Rhpn1 C T 15: 75,586,064 (GRCm39) T659I possibly damaging Het
Rmc1 A G 18: 12,322,319 (GRCm39) I591V probably benign Het
Slc12a5 C A 2: 164,834,353 (GRCm39) H791Q probably damaging Het
Slc40a1 G A 1: 45,958,155 (GRCm39) Q93* probably null Het
Slc6a9 T A 4: 117,725,352 (GRCm39) F493L probably benign Het
Smc2 A G 4: 52,459,033 (GRCm39) E476G probably damaging Het
Smco4 G T 9: 15,456,090 (GRCm39) E59* probably null Het
Sparcl1 C T 5: 104,233,629 (GRCm39) M573I probably damaging Het
Stat4 T A 1: 52,111,054 (GRCm39) L167Q probably damaging Het
Sult1e1 C A 5: 87,724,091 (GRCm39) V289L probably benign Het
Tbc1d4 C A 14: 101,696,318 (GRCm39) E877* probably null Het
Tenm4 A T 7: 96,492,164 (GRCm39) I1033F probably damaging Het
Tppp2 T A 14: 52,156,909 (GRCm39) F95L probably benign Het
Trappc14 A G 5: 138,260,562 (GRCm39) V288A probably benign Het
Vmn2r41 G A 7: 8,141,341 (GRCm39) L708F probably benign Het
Washc5 G A 15: 59,222,018 (GRCm39) P126L probably damaging Het
Xkr4 T C 1: 3,740,911 (GRCm39) I221V probably benign Het
Xkr5 T C 8: 18,983,659 (GRCm39) R628G probably benign Het
Zfp207 T C 11: 80,282,736 (GRCm39) L233P probably damaging Het
Zfp827 T A 8: 79,797,032 (GRCm39) C373S 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
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'- GACCTGCCTCTGATACTCCAAC -3'
(R):5'- GAGCATTTCCACCCAATTCC -3'

Sequencing Primer
(F):5'- GCCTCTGATACTCCAACACTCC -3'
(R):5'- CCAATTCCCTGCCCCAG -3'
Posted On 2016-06-15