Incidental Mutation 'IGL02367:Slc4a11'
ID290787
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc4a11
Ensembl Gene ENSMUSG00000074796
Gene Namesolute carrier family 4, sodium bicarbonate transporter-like, member 11
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.199) question?
Stock #IGL02367
Quality Score
Status
Chromosome2
Chromosomal Location130684113-130697519 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 130684959 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 750 (I750F)
Ref Sequence ENSEMBL: ENSMUSP00000096963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099362] [ENSMUST00000103193]
Predicted Effect probably damaging
Transcript: ENSMUST00000099362
AA Change: I750F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096963
Gene: ENSMUSG00000074796
AA Change: I750F

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: ENSMUST00000126714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134647
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T C 15: 82,065,547 L1215P probably benign Het
Angptl7 T C 4: 148,500,144 N49S possibly damaging Het
Asns A G 6: 7,685,411 probably benign Het
Atr T A 9: 95,899,141 Y1419* probably null Het
Bptf A T 11: 107,073,352 I1672N probably benign Het
Chd1 A G 17: 17,390,053 T490A probably damaging Het
Cyfip2 A T 11: 46,276,905 C223* probably null Het
Ddr1 G A 17: 35,683,480 A801V probably damaging Het
Dnah12 T C 14: 26,709,161 V308A probably benign Het
Dync2h1 A G 9: 7,158,926 V703A probably damaging Het
Fgd3 A G 13: 49,287,326 F210L probably damaging Het
Gm10020 T C 15: 52,477,972 noncoding transcript Het
Gm6526 T G 14: 43,750,805 V171G probably damaging Het
Grin3a A G 4: 49,702,805 Y894H probably damaging Het
Grm3 C A 5: 9,511,660 C730F probably damaging Het
Habp4 C A 13: 64,174,091 P181T probably damaging Het
Hdac4 A G 1: 91,958,449 probably benign Het
Ints5 A G 19: 8,895,595 D306G probably benign Het
Mb21d1 G A 9: 78,434,385 T370I probably benign Het
Mid2 T A X: 140,736,496 I273N probably damaging Het
Ndufs2 A T 1: 171,239,365 Y114* probably null Het
Neu4 G T 1: 94,024,491 R194L probably damaging Het
Ntng1 A T 3: 110,135,513 probably null Het
Nub1 A G 5: 24,689,394 M1V probably null Het
Olfml2a A G 2: 38,954,668 T379A probably benign Het
Olfr311 A T 11: 58,841,512 I133F probably benign Het
Pex3 G T 10: 13,524,899 Q303K probably benign Het
Pmp2 A T 3: 10,182,500 I43N probably damaging Het
Pnliprp1 T A 19: 58,738,169 D319E probably benign Het
Rap1gap2 A T 11: 74,397,355 probably null Het
Rwdd3 A G 3: 121,159,030 V104A probably damaging Het
Sbf1 A T 15: 89,307,572 V157E probably damaging Het
Tcea1 G A 1: 4,878,133 probably null Het
Ush2a A T 1: 188,784,746 M3218L probably benign Het
Utp20 G A 10: 88,771,853 probably benign Het
Zfp493 T A 13: 67,786,970 Y347* probably null Het
Zswim6 T C 13: 107,744,102 noncoding transcript Het
Other mutations in Slc4a11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00474:Slc4a11 APN 2 130688138 missense probably benign 0.11
IGL01292:Slc4a11 APN 2 130690832 critical splice donor site probably null
IGL01330:Slc4a11 APN 2 130687682 missense probably benign 0.11
IGL01349:Slc4a11 APN 2 130686943 missense probably benign 0.33
IGL01474:Slc4a11 APN 2 130685544 missense probably damaging 1.00
IGL01528:Slc4a11 APN 2 130685408 unclassified probably benign
IGL01752:Slc4a11 APN 2 130688145 missense probably damaging 1.00
IGL01859:Slc4a11 APN 2 130684994 missense probably damaging 1.00
IGL01914:Slc4a11 APN 2 130687279 missense probably damaging 1.00
IGL02373:Slc4a11 APN 2 130684898 missense probably benign 0.07
IGL02516:Slc4a11 APN 2 130691393 missense possibly damaging 0.89
IGL02894:Slc4a11 APN 2 130687155 splice site probably null
R0029:Slc4a11 UTSW 2 130688054 missense probably damaging 1.00
R0077:Slc4a11 UTSW 2 130686301 unclassified probably benign
R0270:Slc4a11 UTSW 2 130690932 missense possibly damaging 0.89
R0502:Slc4a11 UTSW 2 130688157 missense probably damaging 1.00
R1316:Slc4a11 UTSW 2 130686151 missense probably benign 0.01
R1628:Slc4a11 UTSW 2 130687127 intron probably null
R1859:Slc4a11 UTSW 2 130688012 missense probably benign 0.00
R2235:Slc4a11 UTSW 2 130685624 missense probably benign 0.19
R2247:Slc4a11 UTSW 2 130687801 missense probably benign 0.00
R2332:Slc4a11 UTSW 2 130684459 missense probably benign 0.17
R3840:Slc4a11 UTSW 2 130688054 missense probably damaging 1.00
R3890:Slc4a11 UTSW 2 130685785 missense probably damaging 0.98
R4296:Slc4a11 UTSW 2 130685007 missense probably benign 0.01
R4304:Slc4a11 UTSW 2 130688138 missense probably benign 0.11
R4749:Slc4a11 UTSW 2 130690867 missense probably damaging 1.00
R4927:Slc4a11 UTSW 2 130684946 missense probably damaging 0.99
R4939:Slc4a11 UTSW 2 130684868 missense probably damaging 1.00
R5756:Slc4a11 UTSW 2 130687863 missense probably benign 0.13
R5869:Slc4a11 UTSW 2 130684459 missense probably benign 0.04
R5905:Slc4a11 UTSW 2 130685052 missense probably damaging 1.00
R6709:Slc4a11 UTSW 2 130684696 missense probably damaging 1.00
R7337:Slc4a11 UTSW 2 130685532 missense probably damaging 1.00
Posted On2015-04-16