Incidental Mutation 'IGL00509:Slc4a3'
ID 7439
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc4a3
Ensembl Gene ENSMUSG00000006576
Gene Name solute carrier family 4 (anion exchanger), member 3
Synonyms Ae3, A930038D23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL00509
Quality Score
Status
Chromosome 1
Chromosomal Location 75522688-75536075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75531727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 898 (T898M)
Ref Sequence ENSEMBL: ENSMUSP00000116747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027415] [ENSMUST00000124341] [ENSMUST00000154101]
AlphaFold P16283
Predicted Effect probably benign
Transcript: ENSMUST00000027415
SMART Domains Protein: ENSMUSP00000027415
Gene: ENSMUSG00000006576

DomainStartEndE-ValueType
low complexity region 74 83 N/A INTRINSIC
low complexity region 88 100 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
low complexity region 128 161 N/A INTRINSIC
low complexity region 194 216 N/A INTRINSIC
low complexity region 304 316 N/A INTRINSIC
Pfam:Band_3_cyto 349 500 7.9e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124341
AA Change: T898M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116747
Gene: ENSMUSG00000006576
AA Change: T898M

DomainStartEndE-ValueType
low complexity region 74 83 N/A INTRINSIC
low complexity region 88 100 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
low complexity region 128 161 N/A INTRINSIC
low complexity region 194 216 N/A INTRINSIC
low complexity region 304 316 N/A INTRINSIC
Pfam:Band_3_cyto 349 618 2.9e-106 PFAM
low complexity region 629 639 N/A INTRINSIC
Pfam:HCO3_cotransp 674 1156 3.6e-203 PFAM
transmembrane domain 1161 1183 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132110
SMART Domains Protein: ENSMUSP00000119942
Gene: ENSMUSG00000006576

DomainStartEndE-ValueType
SCOP:d1hynp_ 4 72 9e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142257
Predicted Effect probably benign
Transcript: ENSMUST00000145258
SMART Domains Protein: ENSMUSP00000119860
Gene: ENSMUSG00000006576

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
Pfam:Band_3_cyto 50 193 4.2e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154101
SMART Domains Protein: ENSMUSP00000116488
Gene: ENSMUSG00000006576

DomainStartEndE-ValueType
low complexity region 107 119 N/A INTRINSIC
Pfam:Band_3_cyto 152 227 2e-32 PFAM
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 a plasma membrane anion exchange protein. The encoded protein has been found in brain, heart, kidney, small intestine, and lung. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygotes for one knock-out allele show inner retina defects including selective ERG b-wave depression, optic nerve and retinal vessel anomalies, sheathing of retinal vessels and late onset photoreceptor death. Homozygotes for another knock-out allele are more sensitive to seizure-inducing agents. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,391,102 (GRCm39) probably null Het
Abr A G 11: 76,313,915 (GRCm39) L514P probably damaging Het
Ahnak T A 19: 8,987,315 (GRCm39) D2866E possibly damaging Het
Bfsp1 T A 2: 143,673,812 (GRCm39) T293S probably damaging Het
Ccr1 C T 9: 123,764,090 (GRCm39) V147I probably benign Het
Cd84 T C 1: 171,679,704 (GRCm39) probably null Het
Cep192 T C 18: 67,991,939 (GRCm39) V1939A possibly damaging Het
Chrnb4 A T 9: 54,943,878 (GRCm39) L80Q probably damaging Het
Ckmt2 A T 13: 92,011,382 (GRCm39) L76H probably damaging Het
Cntnap2 C T 6: 45,992,197 (GRCm39) P375S possibly damaging Het
Cped1 A T 6: 22,215,522 (GRCm39) L685F probably damaging Het
Dab2ip T C 2: 35,610,025 (GRCm39) S682P probably damaging Het
Dclk1 A T 3: 55,154,707 (GRCm39) T46S probably damaging Het
Eif2d T A 1: 131,094,089 (GRCm39) C427S probably benign Het
Fat4 T A 3: 38,943,188 (GRCm39) Y694N probably damaging Het
Gm15217 T C 14: 46,620,768 (GRCm39) probably benign Het
Gpr35 T C 1: 92,910,594 (GRCm39) I102T probably damaging Het
Grk4 T A 5: 34,873,634 (GRCm39) N233K probably damaging Het
Hdac3 T C 18: 38,087,938 (GRCm39) D10G possibly damaging Het
Hexb G A 13: 97,318,437 (GRCm39) T308M probably damaging Het
Inpp5j C A 11: 3,451,595 (GRCm39) D436Y possibly damaging Het
Kif18a A G 2: 109,148,333 (GRCm39) E609G possibly damaging Het
Kif24 T C 4: 41,413,826 (GRCm39) probably null Het
Lrp4 G A 2: 91,316,519 (GRCm39) probably benign Het
Mat2b T C 11: 40,575,554 (GRCm39) K161E possibly damaging Het
Nek2 T G 1: 191,559,490 (GRCm39) probably benign Het
Numa1 A G 7: 101,662,493 (GRCm39) T1965A possibly damaging Het
Oca2 G A 7: 55,930,594 (GRCm39) G137D probably damaging Het
Pdcl2 T A 5: 76,472,959 (GRCm39) D3V probably damaging Het
Ranbp17 T C 11: 33,443,402 (GRCm39) N91S probably benign Het
Siglech A T 7: 55,418,635 (GRCm39) D146V possibly damaging Het
Sp3 A G 2: 72,768,406 (GRCm39) probably benign Het
Tln1 C T 4: 43,542,719 (GRCm39) V1396I probably benign Het
Ugt2a3 T A 5: 87,473,514 (GRCm39) M468L probably damaging Het
Other mutations in Slc4a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Slc4a3 APN 1 75,530,891 (GRCm39) missense probably damaging 1.00
IGL01488:Slc4a3 APN 1 75,525,520 (GRCm39) missense probably benign 0.45
IGL01567:Slc4a3 APN 1 75,527,526 (GRCm39) missense probably damaging 1.00
IGL03090:Slc4a3 APN 1 75,531,661 (GRCm39) missense probably benign 0.00
IGL03135:Slc4a3 APN 1 75,524,579 (GRCm39) unclassified probably benign
R0004:Slc4a3 UTSW 1 75,533,653 (GRCm39) unclassified probably benign
R0479:Slc4a3 UTSW 1 75,528,472 (GRCm39) unclassified probably benign
R0507:Slc4a3 UTSW 1 75,532,725 (GRCm39) missense probably damaging 1.00
R0591:Slc4a3 UTSW 1 75,525,665 (GRCm39) missense probably damaging 1.00
R0742:Slc4a3 UTSW 1 75,532,725 (GRCm39) missense probably damaging 1.00
R1577:Slc4a3 UTSW 1 75,527,535 (GRCm39) missense probably damaging 1.00
R1794:Slc4a3 UTSW 1 75,533,952 (GRCm39) missense probably damaging 0.99
R1804:Slc4a3 UTSW 1 75,528,361 (GRCm39) missense probably damaging 1.00
R1911:Slc4a3 UTSW 1 75,530,367 (GRCm39) missense probably damaging 1.00
R1974:Slc4a3 UTSW 1 75,528,835 (GRCm39) nonsense probably null
R2696:Slc4a3 UTSW 1 75,532,119 (GRCm39) missense possibly damaging 0.46
R2995:Slc4a3 UTSW 1 75,529,306 (GRCm39) nonsense probably null
R3962:Slc4a3 UTSW 1 75,533,398 (GRCm39) missense probably damaging 0.99
R4025:Slc4a3 UTSW 1 75,525,685 (GRCm39) missense probably damaging 1.00
R4824:Slc4a3 UTSW 1 75,527,267 (GRCm39) missense possibly damaging 0.54
R4858:Slc4a3 UTSW 1 75,531,729 (GRCm39) missense probably damaging 1.00
R5075:Slc4a3 UTSW 1 75,534,012 (GRCm39) missense probably damaging 1.00
R5450:Slc4a3 UTSW 1 75,529,300 (GRCm39) missense probably damaging 1.00
R5636:Slc4a3 UTSW 1 75,530,860 (GRCm39) missense possibly damaging 0.82
R5728:Slc4a3 UTSW 1 75,526,484 (GRCm39) missense probably benign 0.05
R5921:Slc4a3 UTSW 1 75,534,088 (GRCm39) critical splice donor site probably null
R5969:Slc4a3 UTSW 1 75,526,623 (GRCm39) missense probably damaging 0.98
R6272:Slc4a3 UTSW 1 75,531,341 (GRCm39) critical splice donor site probably null
R6749:Slc4a3 UTSW 1 75,531,182 (GRCm39) nonsense probably null
R6788:Slc4a3 UTSW 1 75,527,959 (GRCm39) missense probably damaging 1.00
R7308:Slc4a3 UTSW 1 75,534,006 (GRCm39) missense probably benign 0.00
R7487:Slc4a3 UTSW 1 75,530,021 (GRCm39) missense probably benign 0.05
R7673:Slc4a3 UTSW 1 75,533,995 (GRCm39) missense probably damaging 1.00
R7968:Slc4a3 UTSW 1 75,528,007 (GRCm39) missense probably benign 0.00
R8004:Slc4a3 UTSW 1 75,525,711 (GRCm39) critical splice donor site probably null
R8084:Slc4a3 UTSW 1 75,532,589 (GRCm39) missense probably benign 0.25
R8109:Slc4a3 UTSW 1 75,528,448 (GRCm39) missense possibly damaging 0.88
R8221:Slc4a3 UTSW 1 75,528,810 (GRCm39) missense probably benign 0.02
R8358:Slc4a3 UTSW 1 75,530,359 (GRCm39) missense probably damaging 1.00
R8520:Slc4a3 UTSW 1 75,526,506 (GRCm39) missense probably benign
R8759:Slc4a3 UTSW 1 75,531,282 (GRCm39) missense probably damaging 1.00
R8988:Slc4a3 UTSW 1 75,527,957 (GRCm39) missense probably damaging 1.00
R9515:Slc4a3 UTSW 1 75,533,612 (GRCm39) missense probably damaging 0.98
R9758:Slc4a3 UTSW 1 75,534,319 (GRCm39) missense probably damaging 1.00
Z1176:Slc4a3 UTSW 1 75,530,879 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20