Incidental Mutation 'R1911:Slc4a3'
ID 210232
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 039929-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R1911 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 75522688-75536075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 75530367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 690 (R690H)
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: R690H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116747
Gene: ENSMUSG00000006576
AA Change: R690H

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 0.2348 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.2%
Validation Efficiency 99% (99/100)
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T A 6: 91,927,050 (GRCm39) probably benign Het
Abca7 T C 10: 79,842,468 (GRCm39) V1134A probably benign Het
Acaa2 A G 18: 74,925,483 (GRCm39) E82G probably benign Het
Acap1 T C 11: 69,772,548 (GRCm39) D521G probably damaging Het
Adam19 T C 11: 46,012,281 (GRCm39) V259A probably damaging Het
Adss1 T C 12: 112,599,443 (GRCm39) V140A probably benign Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Aldh3b1 T G 19: 3,971,187 (GRCm39) D159A probably damaging Het
Ank1 T C 8: 23,589,666 (GRCm39) V589A probably damaging Het
Ano2 G A 6: 125,990,654 (GRCm39) D803N probably benign Het
Arid1b A G 17: 5,393,241 (GRCm39) E2257G probably damaging Het
Asb17 T C 3: 153,550,138 (GRCm39) Y57H probably benign Het
Asph T C 4: 9,453,335 (GRCm39) E646G probably damaging Het
Aspm T A 1: 139,405,832 (GRCm39) I1573K probably benign Het
Bcas1 C A 2: 170,229,863 (GRCm39) D236Y probably damaging Het
Bcas2 G T 3: 103,079,113 (GRCm39) G9* probably null Het
Btaf1 A G 19: 36,964,030 (GRCm39) Q867R probably benign Het
Calhm3 C T 19: 47,143,908 (GRCm39) V132I possibly damaging Het
Ccer1 A T 10: 97,530,539 (GRCm39) I401F possibly damaging Het
Cdcp3 T C 7: 130,839,818 (GRCm39) V580A probably damaging Het
Cecr2 T A 6: 120,739,526 (GRCm39) probably benign Het
Cep104 G A 4: 154,091,255 (GRCm39) R925Q possibly damaging Het
Cep164 T A 9: 45,682,104 (GRCm39) M1900L probably benign Het
Crybg1 A G 10: 43,873,673 (GRCm39) V1145A possibly damaging Het
Cyp2a4 T A 7: 26,008,399 (GRCm39) N180K possibly damaging Het
Dennd4a T C 9: 64,796,368 (GRCm39) L798P probably damaging Het
Dmxl1 T C 18: 50,011,230 (GRCm39) I1129T probably benign Het
Dnah2 T C 11: 69,406,578 (GRCm39) N555D possibly damaging Het
Dock1 T A 7: 134,601,029 (GRCm39) M988K probably damaging Het
Elp4 T A 2: 105,533,088 (GRCm39) H419L probably damaging Het
Endov T C 11: 119,393,177 (GRCm39) V109A possibly damaging Het
Epha8 T C 4: 136,663,625 (GRCm39) Y477C probably damaging Het
Erlin1 A G 19: 44,037,561 (GRCm39) M188T probably damaging Het
Fhip1a T A 3: 85,568,525 (GRCm39) D998V probably benign Het
Fhod3 A T 18: 25,245,643 (GRCm39) D1231V possibly damaging Het
Gimap3 T A 6: 48,742,646 (GRCm39) I95F possibly damaging Het
Gm10717 T G 9: 3,026,317 (GRCm39) F205C probably damaging Het
Grk1 C A 8: 13,457,923 (GRCm39) D274E probably damaging Het
Gsdmc2 G A 15: 63,699,621 (GRCm39) A269V probably benign Het
Krt33a T A 11: 99,903,175 (GRCm39) Q289L probably benign Het
Krt76 T A 15: 101,796,600 (GRCm39) K403* probably null Het
Lcn4 T C 2: 26,560,607 (GRCm39) probably benign Het
Mab21l1 T C 3: 55,691,048 (GRCm39) S212P possibly damaging Het
Mapk8ip3 A C 17: 25,123,025 (GRCm39) D610E probably benign Het
Mastl G T 2: 23,022,692 (GRCm39) S677* probably null Het
Mfap3 T C 11: 57,420,562 (GRCm39) F181S probably damaging Het
Mlkl T C 8: 112,038,732 (GRCm39) probably benign Het
Mov10 G A 3: 104,708,876 (GRCm39) probably benign Het
Muc5ac T C 7: 141,350,041 (GRCm39) F595L probably benign Het
Nbas T A 12: 13,616,145 (GRCm39) C2228S probably benign Het
Nit2 G A 16: 56,982,046 (GRCm39) probably benign Het
Nod1 C T 6: 54,921,425 (GRCm39) V298M probably damaging Het
Or3a4 C A 11: 73,945,210 (GRCm39) R125L probably damaging Het
Or4c111 A G 2: 88,843,565 (GRCm39) L281P probably damaging Het
Or52b1 T A 7: 104,978,590 (GRCm39) I270F probably benign Het
Or6c210 A T 10: 129,495,981 (GRCm39) D102V probably benign Het
Or7g12 T C 9: 18,900,196 (GRCm39) L304P probably damaging Het
Osbpl5 C A 7: 143,243,662 (GRCm39) R864L probably benign Het
Pcnt G A 10: 76,204,650 (GRCm39) T2585M possibly damaging Het
Pepd C T 7: 34,634,174 (GRCm39) probably benign Het
Pou6f2 T C 13: 18,326,548 (GRCm39) I341V probably damaging Het
Pramel32 T C 4: 88,548,309 (GRCm39) Q32R possibly damaging Het
Prune2 T A 19: 17,091,038 (GRCm39) F281I probably benign Het
Psg19 T G 7: 18,528,193 (GRCm39) Q183H probably damaging Het
Psme4 T G 11: 30,765,658 (GRCm39) S587A probably benign Het
Ptpro T C 6: 137,377,617 (GRCm39) probably benign Het
Pttg1ip2 C A 5: 5,502,019 (GRCm39) W144C probably benign Het
Rasgrp4 T C 7: 28,838,302 (GRCm39) V92A probably damaging Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Rexo5 C T 7: 119,398,867 (GRCm39) A68V probably damaging Het
Robo2 A T 16: 73,755,213 (GRCm39) N769K probably damaging Het
Sfrp5 C T 19: 42,187,237 (GRCm39) V278I probably benign Het
Sidt1 A G 16: 44,102,234 (GRCm39) S309P possibly damaging Het
Slc22a6 A C 19: 8,599,246 (GRCm39) Q292H probably benign Het
Snx7 A T 3: 117,623,317 (GRCm39) probably null Het
Spag6 T A 2: 18,720,616 (GRCm39) Y129* probably null Het
Srcap T C 7: 127,133,994 (GRCm39) I905T probably damaging Het
St6gal1 T G 16: 23,140,383 (GRCm39) S185A probably damaging Het
Sult6b1 G A 17: 79,196,393 (GRCm39) H250Y possibly damaging Het
Tdrd6 T G 17: 43,937,979 (GRCm39) N1023T probably benign Het
Tecta C T 9: 42,249,232 (GRCm39) E1877K probably damaging Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tex14 T A 11: 87,385,861 (GRCm39) D240E probably damaging Het
Tex47 T C 5: 7,355,022 (GRCm39) Y68H probably damaging Het
Thbs2 A G 17: 14,910,104 (GRCm39) V165A probably benign Het
Tmem126b T A 7: 90,118,367 (GRCm39) Y171F possibly damaging Het
Tpsg1 G T 17: 25,592,374 (GRCm39) M46I probably benign Het
Trmt2a A G 16: 18,069,070 (GRCm39) K304R probably benign Het
Ttc28 G T 5: 111,428,616 (GRCm39) R1845L possibly damaging Het
Umodl1 A T 17: 31,211,128 (GRCm39) T884S possibly damaging Het
Vmn2r77 A G 7: 86,461,001 (GRCm39) K776E probably damaging Het
Vmn2r88 T C 14: 51,655,671 (GRCm39) S627P probably damaging Het
Vrk1 T C 12: 106,024,236 (GRCm39) probably null Het
Zfp644 A G 5: 106,783,137 (GRCm39) M1079T possibly damaging Het
Znrf1 T C 8: 112,348,233 (GRCm39) *41Q probably null Het
Znrf1 T C 8: 112,348,244 (GRCm39) F183L possibly damaging 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
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
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'- CCGAGTCCTGTACGCTTTTG -3'
(R):5'- GTGATATGAGCCAGAGACCC -3'

Sequencing Primer
(F):5'- CCCTAGTGCTGTGTGGAAC -3'
(R):5'- TGATATGAGCCAGAGACCCCTATG -3'
Posted On 2014-06-30