Incidental Mutation 'R0599:Slc4a1'
ID 208411
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 038788-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0599 (G1)
Quality Score 78
Status Validated
Chromosome 11
Chromosomal Location 102239646-102256107 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 102248741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000006749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006749]
AlphaFold P04919
Predicted Effect probably benign
Transcript: ENSMUST00000006749
SMART Domains Protein: ENSMUSP00000006749
Gene: ENSMUSG00000006574

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: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 98% (80/82)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,529,208 (GRCm39) L978P probably damaging Het
Abcb1a C T 5: 8,748,539 (GRCm39) T290M probably benign Het
Abcd3 A T 3: 121,558,742 (GRCm39) F585I probably damaging Het
Abtb3 G A 10: 85,494,200 (GRCm39) G1106D probably damaging Het
Acan A G 7: 78,761,038 (GRCm39) probably benign Het
Anxa6 T C 11: 54,870,292 (GRCm39) D667G possibly damaging Het
Ap3m2 G T 8: 23,283,128 (GRCm39) A208D possibly damaging Het
Arhgap17 A T 7: 122,903,013 (GRCm39) probably benign Het
Bptf A G 11: 106,959,208 (GRCm39) V1838A probably damaging Het
Brip1 T A 11: 86,043,563 (GRCm39) M334L probably benign Het
Btbd10 C T 7: 112,934,516 (GRCm39) probably benign Het
Cdh20 C A 1: 109,980,696 (GRCm39) T208K probably damaging Het
Cnga4 A G 7: 105,055,025 (GRCm39) Y100C probably damaging Het
Dnah10 G A 5: 124,878,017 (GRCm39) V2644M probably damaging Het
Dnah9 T C 11: 65,856,515 (GRCm39) D2882G probably damaging Het
Eapp T A 12: 54,732,747 (GRCm39) K117M probably damaging Het
Eml3 T C 19: 8,916,427 (GRCm39) V673A probably benign Het
Ephb4 G A 5: 137,368,117 (GRCm39) C754Y probably damaging Het
Eps8l1 A G 7: 4,480,956 (GRCm39) D33G possibly damaging Het
Farsa A G 8: 85,594,212 (GRCm39) K321E probably damaging Het
Fry G A 5: 150,360,624 (GRCm39) R2090Q probably damaging Het
Gm10283 A G 8: 60,954,258 (GRCm39) probably benign Het
Grm4 A G 17: 27,650,464 (GRCm39) I844T probably benign Het
Gtf2h3 A G 5: 124,726,691 (GRCm39) D124G probably benign Het
Gulo A T 14: 66,227,890 (GRCm39) D347E probably damaging Het
Hmcn1 A G 1: 150,485,552 (GRCm39) F4350S possibly damaging Het
Hspg2 A G 4: 137,239,712 (GRCm39) D473G probably damaging Het
Il17ra T A 6: 120,458,466 (GRCm39) I539N probably damaging Het
Insrr A G 3: 87,720,440 (GRCm39) E1026G probably damaging Het
Itga2 A T 13: 114,993,186 (GRCm39) probably benign Het
Kdm1b A T 13: 47,212,286 (GRCm39) D190V possibly damaging Het
Lima1 A T 15: 99,700,040 (GRCm39) N146K probably damaging Het
Mnt G T 11: 74,733,122 (GRCm39) V85L probably benign Het
Mon2 T A 10: 122,861,970 (GRCm39) probably benign Het
Mtf1 T C 4: 124,713,994 (GRCm39) probably benign Het
Mylk4 T C 13: 32,896,737 (GRCm39) probably null Het
Myo18b A C 5: 113,013,616 (GRCm39) L780R probably damaging Het
Myo1e A G 9: 70,283,942 (GRCm39) probably benign Het
Obscn A G 11: 58,964,522 (GRCm39) S705P probably damaging Het
Ocrl A T X: 47,024,963 (GRCm39) probably benign Het
Or1e34 A T 11: 73,778,730 (GRCm39) M156K probably benign Het
Or4c35 T C 2: 89,808,545 (GRCm39) F141S probably benign Het
Or51k1 A T 7: 103,661,395 (GRCm39) C171* probably null Het
Or52ab4 A G 7: 102,987,393 (GRCm39) N44S probably damaging Het
Otof T A 5: 30,528,049 (GRCm39) K1931N probably damaging Het
Plcxd3 A G 15: 4,546,349 (GRCm39) S118G probably damaging Het
Plcz1 T A 6: 139,974,268 (GRCm39) Q58L probably benign Het
Proser1 C A 3: 53,386,485 (GRCm39) P789Q probably benign Het
Rassf4 T C 6: 116,622,897 (GRCm39) E38G probably damaging Het
Ros1 A T 10: 51,999,396 (GRCm39) Y1164N probably damaging Het
Rpgrip1l A G 8: 92,031,628 (GRCm39) I83T probably damaging Het
Scn9a T G 2: 66,357,143 (GRCm39) K1053Q probably damaging Het
Sgsm1 G T 5: 113,392,894 (GRCm39) Q1087K probably damaging Het
Slc16a10 T C 10: 40,017,914 (GRCm39) D40G probably benign Het
Slc27a6 A G 18: 58,689,885 (GRCm39) D117G probably damaging Het
Slc2a9 T A 5: 38,637,487 (GRCm39) probably benign Het
Smarca1 T A X: 46,912,303 (GRCm39) Q982L probably benign Het
Sp100 T A 1: 85,608,831 (GRCm39) I320N possibly damaging Het
Stx8 A T 11: 68,000,188 (GRCm39) R209S probably null Het
Sulf2 T C 2: 165,925,799 (GRCm39) T453A possibly damaging Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,144,734 (GRCm39) probably null Het
Tenm2 T A 11: 35,915,607 (GRCm39) I1976F possibly damaging Het
Tenm3 G A 8: 48,730,745 (GRCm39) S1341L probably damaging Het
Tmem130 C T 5: 144,674,619 (GRCm39) V369M probably damaging Het
Tmem200c A G 17: 69,147,506 (GRCm39) K30E probably damaging Het
Tmem225 A G 9: 40,061,043 (GRCm39) I117V possibly damaging Het
Tmt1a3 A T 15: 100,233,264 (GRCm39) N152Y possibly damaging Het
Top2a A G 11: 98,892,243 (GRCm39) I1073T probably damaging Het
Trps1 A C 15: 50,695,256 (GRCm39) Y296* probably null Het
Tubg1 T C 11: 101,016,162 (GRCm39) M377T probably benign Het
Tut7 A G 13: 59,957,301 (GRCm39) V7A probably damaging Het
Vmn1r35 G A 6: 66,656,497 (GRCm39) H58Y probably benign Het
Vmn1r56 G A 7: 5,199,429 (GRCm39) H63Y probably benign Het
Vmn1r75 T C 7: 11,615,189 (GRCm39) probably null Het
Vnn3 T C 10: 23,741,603 (GRCm39) S303P possibly damaging Het
Wdr49 C T 3: 75,338,383 (GRCm39) probably null Het
Wdr49 T C 3: 75,357,197 (GRCm39) probably null Het
Zzef1 T C 11: 72,804,004 (GRCm39) L2582P 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
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
Predicted Primers PCR Primer
(F):5'- TGAGCTTTGGGGAAACAGGCAC -3'
(R):5'- TACTGGGCTTCGTGAGACTGAAGG -3'

Sequencing Primer
(F):5'- GCTGGTCCAATCTAAGTCAGG -3'
(R):5'- ACTGAAGGAGGCCGTGC -3'
Posted On 2014-06-25