Incidental Mutation 'IGL01914:Slc4a11'
ID 179881
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc4a11
Ensembl Gene ENSMUSG00000074796
Gene Name solute carrier family 4, sodium bicarbonate transporter-like, member 11
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.488) question?
Stock # IGL01914
Quality Score
Status
Chromosome 2
Chromosomal Location 130526033-130539439 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130529199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 417 (I417N)
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: I417N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096963
Gene: ENSMUSG00000074796
AA Change: I417N

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: ENSMUST00000127397
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144945
Coding Region Coverage
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf7 A T 15: 102,459,913 (GRCm39) Y67* probably null Het
Atp6v1b2 C A 8: 69,548,932 (GRCm39) probably benign Het
Cd24a T C 10: 43,458,699 (GRCm39) S79P unknown Het
Col4a2 G A 8: 11,464,754 (GRCm39) E340K possibly damaging Het
Dtna A T 18: 23,730,516 (GRCm39) N301I possibly damaging Het
Ero1a T C 14: 45,544,069 (GRCm39) D45G probably damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
H6pd A T 4: 150,078,920 (GRCm39) probably benign Het
Htt A G 5: 34,987,053 (GRCm39) T1091A probably benign Het
Msto1 T C 3: 88,820,210 (GRCm39) E82G probably benign Het
Mup11 T A 4: 60,615,821 (GRCm39) probably benign Het
Nlrp9a T A 7: 26,256,689 (GRCm39) N13K probably benign Het
Nsun7 C T 5: 66,433,977 (GRCm39) P209L probably damaging Het
Or5ac25 A T 16: 59,182,294 (GRCm39) C96S probably damaging Het
Or5al1 C T 2: 85,990,391 (GRCm39) V108I probably benign Het
Or8j3 G A 2: 86,029,016 (GRCm39) L27F probably benign Het
Pecam1 A G 11: 106,590,693 (GRCm39) I27T possibly damaging Het
Prkcd T C 14: 30,329,383 (GRCm39) E19G possibly damaging Het
Stat1 T C 1: 52,165,716 (GRCm39) I104T probably benign Het
Stk17b T C 1: 53,800,226 (GRCm39) N251D probably damaging Het
Ttll4 C T 1: 74,718,217 (GRCm39) H23Y probably benign Het
Vmn2r79 A T 7: 86,686,571 (GRCm39) T651S 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
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
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
Posted On 2014-05-07