Incidental Mutation 'R0742:Slc4a3'
ID 70713
Institutional Source Beutler Lab
Gene Symbol Slc4a3
Ensembl Gene ENSMUSG00000006576
Gene Name solute carrier family 4 (anion exchanger), member 3
Synonyms Ae3, A930038D23Rik
MMRRC Submission 038923-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R0742 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 75522688-75536075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75532725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 995 (I995K)
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: I995K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116747
Gene: ENSMUSG00000006576
AA Change: I995K

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.8%
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T A 6: 58,655,311 (GRCm39) D415E probably benign Het
Aff3 A G 1: 38,666,189 (GRCm39) W12R probably damaging Het
Aldh3b2 G A 19: 4,031,034 (GRCm39) G428S probably damaging Het
Arhgef10l A G 4: 140,264,156 (GRCm39) L736P probably damaging Het
Baz2a G T 10: 127,949,535 (GRCm39) E374* probably null Het
Casd1 T C 6: 4,635,888 (GRCm39) probably null Het
Cct2 A T 10: 116,891,151 (GRCm39) probably null Het
Cdc42bpg G A 19: 6,368,605 (GRCm39) probably null Het
Copg2 T C 6: 30,840,548 (GRCm39) probably null Het
Fbxw15 C T 9: 109,384,624 (GRCm39) probably null Het
Fyb1 A G 15: 6,664,297 (GRCm39) D460G probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lyz1 A T 10: 117,125,022 (GRCm39) probably null Het
Mroh3 A T 1: 136,118,718 (GRCm39) I533N probably damaging Het
Otogl A G 10: 107,702,601 (GRCm39) V684A possibly damaging Het
Pcdh15 A G 10: 74,457,129 (GRCm39) D1302G probably damaging Het
Plec A T 15: 76,056,983 (GRCm39) I4183N probably damaging Het
Rpe C T 1: 66,754,300 (GRCm39) T124I probably benign Het
Rufy4 T C 1: 74,185,875 (GRCm39) I514T probably benign Het
Scap T A 9: 110,210,327 (GRCm39) L912Q probably damaging Het
Sec61a2 T C 2: 5,881,359 (GRCm39) D264G probably benign Het
Sptbn2 T C 19: 4,769,011 (GRCm39) I48T possibly damaging Het
Steap3 C T 1: 120,169,313 (GRCm39) R328H possibly damaging Het
Thoc2l G A 5: 104,670,020 (GRCm39) S1514N probably benign Het
Tmprss13 T C 9: 45,243,765 (GRCm39) F167S probably damaging Het
Ttc3 G A 16: 94,260,739 (GRCm39) C1408Y probably benign Het
Twf1 A G 15: 94,483,411 (GRCm39) M99T probably damaging Het
Unc80 A G 1: 66,567,052 (GRCm39) N886S possibly damaging Het
Vmn2r12 T A 5: 109,234,281 (GRCm39) T644S possibly damaging Het
Vps13b A G 15: 35,794,507 (GRCm39) S2306G probably benign Het
Xpo1 T C 11: 23,244,682 (GRCm39) V1020A possibly damaging Het
Ylpm1 T A 12: 85,075,886 (GRCm39) N870K probably benign Het
Other mutations in Slc4a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Slc4a3 APN 1 75,531,727 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TTCCTGCCATGCAGAAGCTGAC -3'
(R):5'- TCTGAGAACTTCCAAGTGCCACCC -3'

Sequencing Primer
(F):5'- AGAAGCTGACGGTGCCTAC -3'
(R):5'- tcctcctcctcctcctcc -3'
Posted On 2013-09-30