Incidental Mutation 'R9419:Slc4a11'
ID 712206
Institutional Source Beutler Lab
Gene Symbol Slc4a11
Ensembl Gene ENSMUSG00000074796
Gene Name solute carrier family 4, sodium bicarbonate transporter-like, member 11
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.488) question?
Stock # R9419 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 130526033-130539439 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 130533664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 100 (A100T)
Ref Sequence ENSEMBL: ENSMUSP00000096963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099362] [ENSMUST00000127397]
AlphaFold A2AJN7
Predicted Effect probably damaging
Transcript: ENSMUST00000099362
AA Change: A100T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096963
Gene: ENSMUSG00000074796
AA Change: A100T

DomainStartEndE-ValueType
SCOP:d1a3aa_ 199 276 5e-5 SMART
Pfam:HCO3_cotransp 308 806 9.7e-153 PFAM
transmembrane domain 827 844 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000127397
AA Change: A100T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a gene trapped allele show a collapsed vestibular labyrinth, reduced brainstem auditory potentials, and altered corneal epithelium. Mice homozygous for a reporter allele show corneal endothelial dystrophy, polyuria, natriuresis, urinehypoosmolarity and impaired hearing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700064H15Rik T C 3: 19,682,685 (GRCm39) T30A unknown Het
Abca12 A G 1: 71,342,649 (GRCm39) Y944H possibly damaging Het
Adgrv1 T C 13: 81,656,887 (GRCm39) N2869S probably benign Het
Ank1 C A 8: 23,574,825 (GRCm39) Q140K probably damaging Het
Aspm T A 1: 139,384,923 (GRCm39) M189K probably benign Het
Atp2b1 G T 10: 98,837,178 (GRCm39) R539L possibly damaging Het
Camsap1 A G 2: 25,845,304 (GRCm39) S152P Het
Catsperd A T 17: 56,958,821 (GRCm39) I276L probably benign Het
Cbarp A G 10: 79,967,861 (GRCm39) V460A probably damaging Het
Ccdc168 T C 1: 44,096,935 (GRCm39) I1388V probably benign Het
Cd40 A T 2: 164,904,162 (GRCm39) probably benign Het
Cdk11b A T 4: 155,724,302 (GRCm39) T307S unknown Het
Chfr C T 5: 110,317,056 (GRCm39) T643I probably damaging Het
Cnbd1 T C 4: 19,098,156 (GRCm39) Q88R probably benign Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Ghdc G T 11: 100,661,081 (GRCm39) A28D probably damaging Het
Gm5114 T C 7: 39,057,540 (GRCm39) H693R possibly damaging Het
H2-M1 G T 17: 36,981,231 (GRCm39) A268E probably damaging Het
Hsf5 A G 11: 87,528,935 (GRCm39) N557D probably benign Het
Ighg2c A G 12: 113,251,015 (GRCm39) probably benign Het
Il17ra C A 6: 120,458,255 (GRCm39) Q469K possibly damaging Het
Ipo8 T A 6: 148,686,064 (GRCm39) N809Y probably benign Het
Klra10 T A 6: 130,256,435 (GRCm39) Q73L probably damaging Het
Lamb2 T C 9: 108,356,959 (GRCm39) V3A unknown Het
Map3k9 T C 12: 81,827,341 (GRCm39) Y103C probably damaging Het
Map4 T C 9: 109,882,029 (GRCm39) S298P possibly damaging Het
Mtus2 T A 5: 148,243,451 (GRCm39) N1254K probably damaging Het
Nap1l5 T A 6: 58,883,952 (GRCm39) M1L probably benign Het
Nfxl1 G A 5: 72,716,641 (GRCm39) probably benign Het
Nmd3 T C 3: 69,643,349 (GRCm39) I227T probably benign Het
Or8c10 T G 9: 38,279,162 (GRCm39) C97G probably damaging Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Ptchd3 G A 11: 121,732,356 (GRCm39) M415I possibly damaging Het
Rab28 A T 5: 41,793,182 (GRCm39) S154R possibly damaging Het
Rin1 A G 19: 5,103,735 (GRCm39) E567G probably damaging Het
Rrbp1 A C 2: 143,811,436 (GRCm39) V806G probably benign Het
Sec63 T A 10: 42,679,901 (GRCm39) L326Q probably damaging Het
Serinc2 T C 4: 130,149,315 (GRCm39) T296A probably damaging Het
Skint10 G A 4: 112,572,981 (GRCm39) L272F probably damaging Het
Stag1 A G 9: 100,811,967 (GRCm39) Q815R probably benign Het
Stat3 A G 11: 100,784,738 (GRCm39) I576T probably benign Het
Stat3 A G 11: 100,780,357 (GRCm39) M735T possibly damaging Het
Styxl2 T C 1: 165,927,755 (GRCm39) Q619R probably damaging Het
Syne1 T C 10: 5,155,071 (GRCm39) K5623E probably benign Het
Tas1r2 T C 4: 139,387,036 (GRCm39) V165A possibly damaging Het
Tcaf3 A T 6: 42,573,716 (GRCm39) D165E probably benign Het
Tex2 G A 11: 106,457,835 (GRCm39) Q532* probably null Het
Utrn T C 10: 12,564,125 (GRCm39) E1245G probably damaging Het
Other mutations in Slc4a11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00474:Slc4a11 APN 2 130,530,058 (GRCm39) missense probably benign 0.11
IGL01292:Slc4a11 APN 2 130,532,752 (GRCm39) critical splice donor site probably null
IGL01330:Slc4a11 APN 2 130,529,602 (GRCm39) missense probably benign 0.11
IGL01349:Slc4a11 APN 2 130,528,863 (GRCm39) missense probably benign 0.33
IGL01474:Slc4a11 APN 2 130,527,464 (GRCm39) missense probably damaging 1.00
IGL01528:Slc4a11 APN 2 130,527,328 (GRCm39) unclassified probably benign
IGL01752:Slc4a11 APN 2 130,530,065 (GRCm39) missense probably damaging 1.00
IGL01859:Slc4a11 APN 2 130,526,914 (GRCm39) missense probably damaging 1.00
IGL01914:Slc4a11 APN 2 130,529,199 (GRCm39) missense probably damaging 1.00
IGL02367:Slc4a11 APN 2 130,526,879 (GRCm39) missense probably damaging 1.00
IGL02373:Slc4a11 APN 2 130,526,818 (GRCm39) missense probably benign 0.07
IGL02516:Slc4a11 APN 2 130,533,313 (GRCm39) missense possibly damaging 0.89
IGL02894:Slc4a11 APN 2 130,529,075 (GRCm39) splice site probably null
R0029:Slc4a11 UTSW 2 130,529,974 (GRCm39) missense probably damaging 1.00
R0077:Slc4a11 UTSW 2 130,528,221 (GRCm39) unclassified probably benign
R0270:Slc4a11 UTSW 2 130,532,852 (GRCm39) missense possibly damaging 0.89
R0502:Slc4a11 UTSW 2 130,530,077 (GRCm39) missense probably damaging 1.00
R1316:Slc4a11 UTSW 2 130,528,071 (GRCm39) missense probably benign 0.01
R1628:Slc4a11 UTSW 2 130,529,047 (GRCm39) splice site probably null
R1859:Slc4a11 UTSW 2 130,529,932 (GRCm39) missense probably benign 0.00
R2235:Slc4a11 UTSW 2 130,527,544 (GRCm39) missense probably benign 0.19
R2247:Slc4a11 UTSW 2 130,529,721 (GRCm39) missense probably benign 0.00
R2332:Slc4a11 UTSW 2 130,526,379 (GRCm39) missense probably benign 0.17
R3840:Slc4a11 UTSW 2 130,529,974 (GRCm39) missense probably damaging 1.00
R3890:Slc4a11 UTSW 2 130,527,705 (GRCm39) missense probably damaging 0.98
R4296:Slc4a11 UTSW 2 130,526,927 (GRCm39) missense probably benign 0.01
R4304:Slc4a11 UTSW 2 130,530,058 (GRCm39) missense probably benign 0.11
R4749:Slc4a11 UTSW 2 130,532,787 (GRCm39) missense probably damaging 1.00
R4927:Slc4a11 UTSW 2 130,526,866 (GRCm39) missense probably damaging 0.99
R4939:Slc4a11 UTSW 2 130,526,788 (GRCm39) missense probably damaging 1.00
R5756:Slc4a11 UTSW 2 130,529,783 (GRCm39) missense probably benign 0.13
R5869:Slc4a11 UTSW 2 130,526,379 (GRCm39) missense probably benign 0.04
R5905:Slc4a11 UTSW 2 130,526,972 (GRCm39) missense probably damaging 1.00
R6709:Slc4a11 UTSW 2 130,526,616 (GRCm39) missense probably damaging 1.00
R7337:Slc4a11 UTSW 2 130,527,452 (GRCm39) missense probably damaging 1.00
R7909:Slc4a11 UTSW 2 130,534,220 (GRCm39) missense probably benign
R8881:Slc4a11 UTSW 2 130,527,457 (GRCm39) missense probably damaging 0.96
R8889:Slc4a11 UTSW 2 130,529,140 (GRCm39) missense probably damaging 1.00
R8892:Slc4a11 UTSW 2 130,529,140 (GRCm39) missense probably damaging 1.00
R9006:Slc4a11 UTSW 2 130,532,773 (GRCm39) missense probably damaging 0.99
R9038:Slc4a11 UTSW 2 130,533,663 (GRCm39) missense probably damaging 1.00
R9162:Slc4a11 UTSW 2 130,534,214 (GRCm39) missense possibly damaging 0.80
R9239:Slc4a11 UTSW 2 130,533,664 (GRCm39) missense probably damaging 1.00
R9240:Slc4a11 UTSW 2 130,533,664 (GRCm39) missense probably damaging 1.00
R9241:Slc4a11 UTSW 2 130,533,664 (GRCm39) missense probably damaging 1.00
R9323:Slc4a11 UTSW 2 130,528,830 (GRCm39) missense possibly damaging 0.95
R9361:Slc4a11 UTSW 2 130,533,664 (GRCm39) missense probably damaging 1.00
R9363:Slc4a11 UTSW 2 130,533,664 (GRCm39) missense probably damaging 1.00
R9418:Slc4a11 UTSW 2 130,533,664 (GRCm39) missense probably damaging 1.00
R9420:Slc4a11 UTSW 2 130,533,664 (GRCm39) missense probably damaging 1.00
R9421:Slc4a11 UTSW 2 130,533,664 (GRCm39) missense probably damaging 1.00
R9426:Slc4a11 UTSW 2 130,533,664 (GRCm39) missense probably damaging 1.00
R9431:Slc4a11 UTSW 2 130,533,664 (GRCm39) missense probably damaging 1.00
R9609:Slc4a11 UTSW 2 130,530,035 (GRCm39) missense possibly damaging 0.71
Z1177:Slc4a11 UTSW 2 130,533,555 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- AGACAGCCTTACCCTTGCTC -3'
(R):5'- GTTCCCAGGCGTTCCTAAAC -3'

Sequencing Primer
(F):5'- CATAGGGGCTCCAGCATCTGTAAAG -3'
(R):5'- GCGTTCCTAAACAGGGATCTCAG -3'
Posted On 2022-05-16