Incidental Mutation 'R1316:Slc4a11'
ID 157537
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 039382-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.488) question?
Stock # R1316 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 130526033-130539439 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 130528071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 528 (E528V)
Ref Sequence ENSEMBL: ENSMUSP00000096963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099362] [ENSMUST00000103193]
AlphaFold A2AJN7
Predicted Effect probably benign
Transcript: ENSMUST00000099362
AA Change: E528V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000096963
Gene: ENSMUSG00000074796
AA Change: E528V

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 benign
Transcript: ENSMUST00000103193
SMART Domains Protein: ENSMUSP00000099482
Gene: ENSMUSG00000074797

DomainStartEndE-ValueType
Pfam:Ham1p_like 10 188 4.3e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144945
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.1%
Validation Efficiency
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C1qtnf12 G A 4: 156,050,331 (GRCm39) E223K probably damaging Het
Cmpk1 A G 4: 114,828,487 (GRCm39) probably benign Het
Col11a1 G A 3: 113,932,619 (GRCm39) probably null Het
Ears2 T C 7: 121,645,905 (GRCm39) T337A probably benign Het
Erbin T C 13: 103,977,742 (GRCm39) K605R possibly damaging Het
Irs3 T C 5: 137,642,703 (GRCm39) E245G probably damaging Het
Limch1 T C 5: 67,156,586 (GRCm39) I223T probably damaging Het
Lrp1b T C 2: 40,592,816 (GRCm39) T3768A probably benign Het
Notch4 G A 17: 34,786,444 (GRCm39) D195N probably damaging Het
Or5b109 T C 19: 13,211,803 (GRCm39) F63S probably damaging Het
Or7g25 T A 9: 19,160,035 (GRCm39) Q220L probably benign Het
Or8b12b T C 9: 37,684,039 (GRCm39) F28S possibly damaging Het
Or8u8 T C 2: 86,011,709 (GRCm39) S249G probably benign Het
Podxl2 A G 6: 88,826,199 (GRCm39) L369P probably benign Het
Rnf149 A G 1: 39,604,401 (GRCm39) *45Q probably null Het
Scart2 T C 7: 139,879,583 (GRCm39) V957A probably benign Het
Slc9a1 A G 4: 133,149,558 (GRCm39) R795G possibly damaging Het
Slco6d1 A T 1: 98,394,518 (GRCm39) M401L probably benign Het
Tiparp T G 3: 65,460,772 (GRCm39) F587C probably damaging Het
Vmn2r120 T C 17: 57,832,939 (GRCm39) Q80R probably benign 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
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
R9419: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'- ACCGGAACTTGCTCACTGCAAC -3'
(R):5'- TCCCACAGTCTTCGGGAAGTACTAC -3'

Sequencing Primer
(F):5'- ttaaagttaagattctcctgcctcc -3'
(R):5'- CTATGGTCACCACTACCACAC -3'
Posted On 2014-02-18