Incidental Mutation 'IGL01390:Slc9a3'
ID 79163
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc9a3
Ensembl Gene ENSMUSG00000036123
Gene Name solute carrier family 9 (sodium/hydrogen exchanger), member 3
Synonyms 9030624O13Rik, NHE-3, NHE3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01390
Quality Score
Status
Chromosome 13
Chromosomal Location 74121457-74169442 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 74150761 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 100 (I100L)
Ref Sequence ENSEMBL: ENSMUSP00000153255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036208] [ENSMUST00000221703] [ENSMUST00000225423]
AlphaFold G3X939
Predicted Effect probably benign
Transcript: ENSMUST00000036208
AA Change: I100L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: I100L

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Na_H_Exchanger 53 457 3.6e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221703
AA Change: I100L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000225423
AA Change: I100L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Coding Region Coverage
Validation Efficiency
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 an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous mutant mice have diarrhea associated with defects of renal and intestinal absorption. Males are infertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v0a1 A G 11: 101,043,802 (GRCm38) K565R probably benign Het
Cacna2d3 T C 14: 28,943,591 (GRCm38) T158A possibly damaging Het
Ccdc129 C T 6: 55,897,998 (GRCm38) P311L probably benign Het
Dnah5 A G 15: 28,411,540 (GRCm38) D3685G probably benign Het
Dock1 T C 7: 134,745,047 (GRCm38) I236T possibly damaging Het
Dock6 A G 9: 21,803,045 (GRCm38) V1803A probably damaging Het
Epb41 T C 4: 132,003,737 (GRCm38) I178V probably benign Het
Gm10110 C A 14: 89,898,241 (GRCm38) noncoding transcript Het
Hist1h2ac T C 13: 23,683,516 (GRCm38) probably benign Het
Hoxb7 A C 11: 96,287,011 (GRCm38) N95T probably benign Het
Ikzf2 C A 1: 69,570,642 (GRCm38) C116F probably damaging Het
Ints8 A T 4: 11,218,679 (GRCm38) probably benign Het
Man2a1 T C 17: 64,710,705 (GRCm38) Y649H probably benign Het
Mcm8 T C 2: 132,838,078 (GRCm38) probably benign Het
Msi1 T A 5: 115,438,721 (GRCm38) D137E possibly damaging Het
Olfr1037 T C 2: 86,085,640 (GRCm38) I46V probably benign Het
Pde6c A G 19: 38,161,928 (GRCm38) Y507C probably benign Het
Prl7d1 A G 13: 27,710,166 (GRCm38) V140A possibly damaging Het
Rb1 T A 14: 73,294,999 (GRCm38) I132F probably benign Het
Rgl1 A G 1: 152,571,588 (GRCm38) probably benign Het
Rpl18a G T 8: 70,895,510 (GRCm38) probably benign Het
Sf3b1 T C 1: 54,987,429 (GRCm38) I1274V probably benign Het
Sorcs3 T A 19: 48,790,131 (GRCm38) Y996N probably damaging Het
Sra1 A G 18: 36,670,081 (GRCm38) L37P probably damaging Het
Stim1 A G 7: 102,427,162 (GRCm38) Q440R possibly damaging Het
Tacc3 C T 5: 33,668,061 (GRCm38) probably benign Het
Tas2r104 T A 6: 131,685,485 (GRCm38) Y87F probably benign Het
Tbl2 T C 5: 135,156,363 (GRCm38) probably benign Het
Vsig10l C T 7: 43,466,465 (GRCm38) S410F probably damaging Het
Other mutations in Slc9a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Slc9a3 APN 13 74,160,302 (GRCm38) missense probably benign 0.19
IGL01299:Slc9a3 APN 13 74,160,263 (GRCm38) missense probably benign 0.33
IGL01814:Slc9a3 APN 13 74,165,972 (GRCm38) missense probably damaging 0.96
IGL02020:Slc9a3 APN 13 74,158,848 (GRCm38) missense probably damaging 0.99
IGL02072:Slc9a3 APN 13 74,165,859 (GRCm38) missense probably benign 0.00
IGL02186:Slc9a3 APN 13 74,163,114 (GRCm38) missense possibly damaging 0.94
IGL02878:Slc9a3 APN 13 74,165,357 (GRCm38) nonsense probably null
IGL03056:Slc9a3 APN 13 74,150,819 (GRCm38) missense probably damaging 1.00
R0090:Slc9a3 UTSW 13 74,158,728 (GRCm38) missense probably damaging 0.99
R0280:Slc9a3 UTSW 13 74,159,424 (GRCm38) missense probably damaging 1.00
R0359:Slc9a3 UTSW 13 74,157,607 (GRCm38) missense probably damaging 1.00
R0388:Slc9a3 UTSW 13 74,121,536 (GRCm38) missense unknown
R0396:Slc9a3 UTSW 13 74,157,784 (GRCm38) critical splice donor site probably null
R0893:Slc9a3 UTSW 13 74,159,246 (GRCm38) missense probably damaging 1.00
R1169:Slc9a3 UTSW 13 74,150,743 (GRCm38) missense probably damaging 0.98
R1640:Slc9a3 UTSW 13 74,158,818 (GRCm38) missense probably damaging 1.00
R1769:Slc9a3 UTSW 13 74,163,071 (GRCm38) missense probably benign 0.00
R1850:Slc9a3 UTSW 13 74,161,770 (GRCm38) missense probably benign 0.34
R1937:Slc9a3 UTSW 13 74,166,056 (GRCm38) splice site probably null
R2048:Slc9a3 UTSW 13 74,163,741 (GRCm38) missense probably damaging 1.00
R2146:Slc9a3 UTSW 13 74,121,603 (GRCm38) missense probably benign 0.00
R2495:Slc9a3 UTSW 13 74,158,703 (GRCm38) missense probably damaging 0.99
R2883:Slc9a3 UTSW 13 74,158,760 (GRCm38) missense probably damaging 1.00
R2938:Slc9a3 UTSW 13 74,121,669 (GRCm38) missense possibly damaging 0.62
R4538:Slc9a3 UTSW 13 74,161,732 (GRCm38) missense possibly damaging 0.56
R4580:Slc9a3 UTSW 13 74,158,886 (GRCm38) nonsense probably null
R4581:Slc9a3 UTSW 13 74,164,165 (GRCm38) missense probably damaging 0.99
R4841:Slc9a3 UTSW 13 74,165,837 (GRCm38) missense probably damaging 1.00
R4928:Slc9a3 UTSW 13 74,157,719 (GRCm38) missense probably damaging 1.00
R4965:Slc9a3 UTSW 13 74,164,293 (GRCm38) missense possibly damaging 0.62
R5079:Slc9a3 UTSW 13 74,164,287 (GRCm38) missense probably damaging 0.97
R5329:Slc9a3 UTSW 13 74,150,960 (GRCm38) missense possibly damaging 0.94
R5663:Slc9a3 UTSW 13 74,163,712 (GRCm38) missense probably damaging 0.98
R5876:Slc9a3 UTSW 13 74,161,723 (GRCm38) missense probably damaging 1.00
R5919:Slc9a3 UTSW 13 74,158,740 (GRCm38) missense probably damaging 0.98
R6060:Slc9a3 UTSW 13 74,150,885 (GRCm38) missense probably damaging 1.00
R6562:Slc9a3 UTSW 13 74,155,161 (GRCm38) missense probably damaging 1.00
R6645:Slc9a3 UTSW 13 74,164,172 (GRCm38) missense probably damaging 0.99
R7145:Slc9a3 UTSW 13 74,150,678 (GRCm38) missense probably damaging 0.99
R7422:Slc9a3 UTSW 13 74,150,885 (GRCm38) missense probably damaging 1.00
R7565:Slc9a3 UTSW 13 74,157,694 (GRCm38) missense probably damaging 1.00
R7679:Slc9a3 UTSW 13 74,160,276 (GRCm38) missense possibly damaging 0.88
R8032:Slc9a3 UTSW 13 74,157,644 (GRCm38) missense probably damaging 1.00
R8080:Slc9a3 UTSW 13 74,166,027 (GRCm38) missense probably benign 0.30
R8158:Slc9a3 UTSW 13 74,155,122 (GRCm38) missense probably damaging 1.00
R8159:Slc9a3 UTSW 13 74,164,288 (GRCm38) missense probably benign 0.01
R8837:Slc9a3 UTSW 13 74,157,704 (GRCm38) missense probably damaging 1.00
R8939:Slc9a3 UTSW 13 74,163,776 (GRCm38) missense possibly damaging 0.93
R9111:Slc9a3 UTSW 13 74,150,801 (GRCm38) missense probably damaging 1.00
R9741:Slc9a3 UTSW 13 74,158,875 (GRCm38) missense possibly damaging 0.95
Z1176:Slc9a3 UTSW 13 74,165,856 (GRCm38) missense probably benign 0.00
Posted On 2013-11-05