Incidental Mutation 'R4824:Slc4a3'
ID 374176
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 042440-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R4824 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 75522688-75536075 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75527267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 113 (K113E)
Ref Sequence ENSEMBL: ENSMUSP00000116488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027415] [ENSMUST00000124341] [ENSMUST00000138814] [ENSMUST00000154101] [ENSMUST00000150142]
AlphaFold P16283
Predicted Effect probably benign
Transcript: ENSMUST00000027415
AA Change: K310E

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000027415
Gene: ENSMUSG00000006576
AA Change: K310E

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 benign
Transcript: ENSMUST00000124341
AA Change: K310E

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000116747
Gene: ENSMUSG00000006576
AA Change: K310E

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 noncoding transcript
Transcript: ENSMUST00000129703
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 probably benign
Transcript: ENSMUST00000138814
SMART Domains Protein: ENSMUSP00000122749
Gene: ENSMUSG00000006576

DomainStartEndE-ValueType
low complexity region 74 83 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000145258
AA Change: K10E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119860
Gene: ENSMUSG00000006576
AA Change: K10E

DomainStartEndE-ValueType
low complexity region 5 17 N/A INTRINSIC
Pfam:Band_3_cyto 50 193 4.2e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000154101
AA Change: K113E

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116488
Gene: ENSMUSG00000006576
AA Change: K113E

DomainStartEndE-ValueType
low complexity region 107 119 N/A INTRINSIC
Pfam:Band_3_cyto 152 227 2e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142257
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189794
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145516
Predicted Effect probably benign
Transcript: ENSMUST00000150142
SMART Domains Protein: ENSMUSP00000120078
Gene: ENSMUSG00000006576

DomainStartEndE-ValueType
low complexity region 74 83 N/A INTRINSIC
low complexity region 88 100 N/A INTRINSIC
Meta Mutation Damage Score 0.0615 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (123/126)
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: 107 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,771,437 (GRCm39) T209A probably benign Het
1700086D15Rik T C 11: 65,043,441 (GRCm39) probably benign Het
A130010J15Rik G A 1: 192,856,965 (GRCm39) V106I probably benign Het
Abca16 C A 7: 120,074,702 (GRCm39) N580K possibly damaging Het
Actrt2 A T 4: 154,751,344 (GRCm39) F264Y probably damaging Het
Adh4 G A 3: 138,134,807 (GRCm39) S327N possibly damaging Het
Alkbh5 T C 11: 60,444,697 (GRCm39) probably null Het
Anapc1 T A 2: 128,470,610 (GRCm39) T1507S possibly damaging Het
Anapc2 A G 2: 25,167,764 (GRCm39) R444G probably damaging Het
Apoh G T 11: 108,305,087 (GRCm39) W335L probably benign Het
B4galt7 A T 13: 55,752,162 (GRCm39) H71L possibly damaging Het
Bicd2 A G 13: 49,532,488 (GRCm39) E358G probably damaging Het
Bmper T A 9: 23,134,956 (GRCm39) V7D possibly damaging Het
Brca2 T C 5: 150,463,200 (GRCm39) F988S probably damaging Het
Brix1 A G 15: 10,485,828 (GRCm39) V49A possibly damaging Het
Brpf3 T C 17: 29,025,460 (GRCm39) S178P probably benign Het
Btaf1 A G 19: 36,958,448 (GRCm39) Y655C possibly damaging Het
C1rl C G 6: 124,486,040 (GRCm39) Y470* probably null Het
Cacnb4 A G 2: 52,565,822 (GRCm39) V21A probably benign Het
Caskin1 C A 17: 24,720,103 (GRCm39) P437T probably benign Het
Casz1 C A 4: 149,029,028 (GRCm39) P1158T probably damaging Het
Ccdc141 T A 2: 76,954,680 (GRCm39) Q189L probably damaging Het
Ccr3 T C 9: 123,828,809 (GRCm39) V48A probably damaging Het
Cebpd G A 16: 15,705,978 (GRCm39) G264S probably benign Het
Cert1 C T 13: 96,752,995 (GRCm39) P350S probably benign Het
Cfap20dc A T 14: 8,665,997 (GRCm38) M1K probably null Het
Chd1 C A 17: 15,953,386 (GRCm39) S440R probably damaging Het
Clip1 T A 5: 123,769,086 (GRCm39) E504D probably damaging Het
Cmya5 T C 13: 93,230,082 (GRCm39) R1669G probably benign Het
Col11a2 T A 17: 34,269,937 (GRCm39) F456I probably damaging Het
Ctnna2 A T 6: 76,957,764 (GRCm39) M130K probably damaging Het
Elmo2 A T 2: 165,133,922 (GRCm39) probably benign Het
F11 T C 8: 45,708,379 (GRCm39) D27G probably damaging Het
Faap100 A T 11: 120,266,412 (GRCm39) probably null Het
Fat1 A G 8: 45,442,151 (GRCm39) E1151G probably damaging Het
Fbll1 T A 11: 35,688,652 (GRCm39) I204F probably damaging Het
Gle1 T A 2: 29,830,215 (GRCm39) V257D possibly damaging Het
Hoxc9 T A 15: 102,890,225 (GRCm39) C47* probably null Het
Hsd17b6 A G 10: 127,829,524 (GRCm39) V226A probably benign Het
Hsd17b7 C T 1: 169,788,764 (GRCm39) R151Q probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ido2 A G 8: 25,023,875 (GRCm39) I321T probably benign Het
Irf2bp2 T C 8: 127,318,172 (GRCm39) T465A probably benign Het
Kdm2a A G 19: 4,412,815 (GRCm39) M34T probably damaging Het
Klhl6 C T 16: 19,775,778 (GRCm39) R260H probably damaging Het
Kntc1 T A 5: 123,928,196 (GRCm39) L1231* probably null Het
Lca5l A C 16: 95,963,229 (GRCm39) Y412* probably null Het
Lipt1 T C 1: 37,914,513 (GRCm39) S190P possibly damaging Het
Ly6f T A 15: 75,143,569 (GRCm39) V92D probably damaging Het
Matn4 T A 2: 164,235,151 (GRCm39) M433L probably benign Het
Mbtd1 C A 11: 93,816,528 (GRCm39) P370T probably benign Het
Mcph1 T A 8: 18,682,703 (GRCm39) probably null Het
Muc5b T A 7: 141,417,922 (GRCm39) C3623S probably damaging Het
Myt1l C A 12: 29,899,399 (GRCm39) H134N probably benign Het
Nav2 A T 7: 49,058,749 (GRCm39) probably benign Het
Ndufaf8 T C 11: 119,989,992 (GRCm39) C35R probably damaging Het
Neb G A 2: 52,094,891 (GRCm39) T5130I possibly damaging Het
Nlrp9c T C 7: 26,079,989 (GRCm39) N624S possibly damaging Het
Nr0b2 C A 4: 133,283,334 (GRCm39) H190Q probably damaging Het
Nrg4 A G 9: 55,156,405 (GRCm39) probably benign Het
Nup88 A T 11: 70,852,450 (GRCm39) V215E probably benign Het
Oas2 T G 5: 120,876,411 (GRCm39) T511P probably benign Het
Or1e25 A G 11: 73,493,426 (GRCm39) T7A possibly damaging Het
Or2t6 A G 14: 14,175,885 (GRCm38) S66P probably damaging Het
Or5d14 A C 2: 87,880,432 (GRCm39) F179V probably damaging Het
Or5w8 T C 2: 87,687,621 (GRCm39) V34A probably benign Het
Or8g26 A G 9: 39,095,501 (GRCm39) N9S probably benign Het
Or9q1 A C 19: 13,805,718 (GRCm39) L14R probably damaging Het
Pcdhgb2 T A 18: 37,823,502 (GRCm39) N164K probably damaging Het
Pde4d C G 13: 109,253,400 (GRCm39) P76A probably benign Het
Phlda1 T C 10: 111,343,516 (GRCm39) probably benign Het
Plekhh1 A G 12: 79,101,577 (GRCm39) T216A probably benign Het
Plppr3 T A 10: 79,701,507 (GRCm39) E445V possibly damaging Het
Prom1 A G 5: 44,191,732 (GRCm39) V337A probably damaging Het
Prr14l T C 5: 33,001,743 (GRCm39) probably benign Het
Psmd1 A G 1: 86,064,820 (GRCm39) I951V probably benign Het
Rab35 T G 5: 115,781,454 (GRCm39) I85M possibly damaging Het
Rad9a A T 19: 4,250,536 (GRCm39) S93T probably benign Het
Ric1 G A 19: 29,563,242 (GRCm39) C555Y probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ror2 T A 13: 53,264,719 (GRCm39) Q791L probably benign Het
Rps8 G C 4: 117,012,352 (GRCm39) probably benign Het
Sdr16c5 C T 4: 4,016,216 (GRCm39) W70* probably null Het
Senp3 A G 11: 69,568,821 (GRCm39) V408A probably benign Het
Sh2d4b C A 14: 40,562,301 (GRCm39) W288L probably benign Het
Slc38a9 A T 13: 112,859,832 (GRCm39) D422V probably damaging Het
Slc4a2 T C 5: 24,645,141 (GRCm39) F1104L probably damaging Het
Spata3 G A 1: 85,952,048 (GRCm39) probably null Het
Spata31d1d A T 13: 59,877,055 (GRCm39) V160E possibly damaging Het
Sprr2f A G 3: 92,273,203 (GRCm39) M1V probably null Het
Sptbn1 A G 11: 30,068,295 (GRCm39) V1733A possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tardbp A G 4: 148,702,050 (GRCm39) I295T probably benign Het
Tmem212 A G 3: 27,939,157 (GRCm39) S110P probably damaging Het
Tnc G A 4: 63,935,857 (GRCm39) Q360* probably null Het
Tnrc6c C A 11: 117,613,731 (GRCm39) Q630K probably damaging Het
Ttc19 G A 11: 62,199,922 (GRCm39) R235H probably benign Het
Ube3b T A 5: 114,553,787 (GRCm39) probably null Het
Vmn2r31 C T 7: 7,390,062 (GRCm39) probably null Het
Vmn2r92 T A 17: 18,372,183 (GRCm39) probably benign Het
Washc5 A T 15: 59,205,485 (GRCm39) Y685* probably null Het
Wdr93 T A 7: 79,399,817 (GRCm39) Y135* probably null Het
Wdr95 T A 5: 149,518,797 (GRCm39) I546K probably damaging Het
Zbtb38 T A 9: 96,570,254 (GRCm39) T277S probably benign Het
Zfp13 T C 17: 23,795,797 (GRCm39) D258G possibly damaging Het
Zfp397 T A 18: 24,093,249 (GRCm39) S245T probably benign Het
Zfp646 T C 7: 127,482,907 (GRCm39) Y1695H 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
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
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'- TGTGGGATTACAGCCAGGTG -3'
(R):5'- AACTTGATCCAGCGTGCTGTC -3'

Sequencing Primer
(F):5'- AGGGGCCTGGAGCATGTG -3'
(R):5'- TGTCTCCCGCCAGTGTG -3'
Posted On 2016-03-01