Incidental Mutation 'IGL01845:Slc4a1'
ID 178166
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01845
Quality Score
Status
Chromosome 11
Chromosomal Location 102239646-102256107 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102244729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 622 (V622A)
Ref Sequence ENSEMBL: ENSMUSP00000006749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006749]
AlphaFold P04919
Predicted Effect probably benign
Transcript: ENSMUST00000006749
AA Change: V622A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000006749
Gene: ENSMUSG00000006574
AA Change: V622A

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
Coding Region Coverage
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik T C 17: 15,164,380 (GRCm39) L169P probably damaging Het
4933405L10Rik C A 8: 106,435,567 (GRCm39) A75E probably benign Het
Abca1 A G 4: 53,090,297 (GRCm39) L384P probably damaging Het
Acox2 C A 14: 8,251,617 (GRCm38) M293I probably damaging Het
Acp6 A G 3: 97,081,123 (GRCm39) S288G probably benign Het
Arhgef12 T A 9: 42,934,137 (GRCm39) H127L possibly damaging Het
Arid2 T G 15: 96,254,678 (GRCm39) F175V probably damaging Het
Ccdc15 G A 9: 37,226,532 (GRCm39) Q468* probably null Het
Ccdc93 T C 1: 121,390,859 (GRCm39) I277T probably damaging Het
Cdh8 T C 8: 99,825,586 (GRCm39) probably benign Het
Cdipt T C 7: 126,578,725 (GRCm39) S145P possibly damaging Het
Cfap206 T C 4: 34,719,610 (GRCm39) N268S possibly damaging Het
Clcn3 A T 8: 61,366,129 (GRCm39) N814K probably benign Het
Col6a3 T C 1: 90,724,293 (GRCm39) D2019G probably damaging Het
Corin C A 5: 72,511,282 (GRCm39) G432C probably damaging Het
Crppa A G 12: 36,597,918 (GRCm39) R350G probably benign Het
Cyld C T 8: 89,432,403 (GRCm39) Q134* probably null Het
Dhh C A 15: 98,795,864 (GRCm39) R97L probably damaging Het
Dnah5 T C 15: 28,449,315 (GRCm39) V4239A probably benign Het
Dock2 T C 11: 34,599,692 (GRCm39) I296V probably benign Het
Gabbr1 T C 17: 37,359,306 (GRCm39) probably benign Het
Gbp10 T C 5: 105,367,815 (GRCm39) probably null Het
Itgam T A 7: 127,711,644 (GRCm39) L753Q probably damaging Het
Kbtbd12 A G 6: 88,590,922 (GRCm39) V430A probably benign Het
Kdm4a A G 4: 118,017,656 (GRCm39) V470A possibly damaging Het
Larp1b A T 3: 40,924,960 (GRCm39) T146S probably benign Het
Lrrfip2 T A 9: 111,028,728 (GRCm39) probably benign Het
Mier2 A T 10: 79,385,418 (GRCm39) C137S possibly damaging Het
Morc3 A G 16: 93,657,455 (GRCm39) Y393C probably damaging Het
Ms4a7 A T 19: 11,299,751 (GRCm39) M217K possibly damaging Het
Msl1 A G 11: 98,696,191 (GRCm39) probably null Het
Myh2 A G 11: 67,083,860 (GRCm39) E1546G probably benign Het
Nlgn2 A G 11: 69,716,675 (GRCm39) L622P possibly damaging Het
Oga T A 19: 45,756,301 (GRCm39) E447D probably benign Het
Or10q3 A G 19: 11,847,888 (GRCm39) S231P probably benign Het
Or1e33 A G 11: 73,738,298 (GRCm39) Y218H probably damaging Het
Or1j11 A C 2: 36,312,105 (GRCm39) K232Q probably benign Het
Or56b1b T A 7: 108,164,343 (GRCm39) I220L possibly damaging Het
Or5k17 T C 16: 58,746,929 (GRCm39) M2V probably benign Het
Phf20 C A 2: 156,118,577 (GRCm39) S427* probably null Het
Pirt G A 11: 66,816,794 (GRCm39) S35N probably damaging Het
Prss28 C A 17: 25,529,011 (GRCm39) N117K possibly damaging Het
Rbbp8nl A G 2: 179,925,104 (GRCm39) C34R probably damaging Het
Rtn3 A T 19: 7,435,241 (GRCm39) D231E probably damaging Het
Sema5a T C 15: 32,474,514 (GRCm39) probably benign Het
Sh3bp2 T A 5: 34,713,347 (GRCm39) L196Q probably damaging Het
Slc26a9 G T 1: 131,685,256 (GRCm39) D325Y probably damaging Het
Thbd A G 2: 148,249,016 (GRCm39) V284A probably benign Het
Tmc5 T C 7: 118,251,733 (GRCm39) F609L possibly damaging Het
Tnr T C 1: 159,695,576 (GRCm39) probably benign Het
Ttc17 A T 2: 94,163,177 (GRCm39) Y881* probably null Het
Ttc41 A T 10: 86,612,488 (GRCm39) T1254S probably benign Het
Ttn C T 2: 76,640,347 (GRCm39) D13754N probably damaging Het
Vmn2r16 T A 5: 109,511,762 (GRCm39) F656L probably damaging Het
Wdr19 A G 5: 65,382,709 (GRCm39) I478V probably damaging Het
Zan T C 5: 137,379,116 (GRCm39) probably benign Het
Zp2 T A 7: 119,737,414 (GRCm39) D258V probably damaging Het
Other mutations in Slc4a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01303:Slc4a1 APN 11 102,248,790 (GRCm39) missense probably benign 0.09
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
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
Posted On 2014-05-07