Incidental Mutation 'IGL02878:Slc9a3'
ID 362717
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
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02878
Quality Score
Status
Chromosome 13
Chromosomal Location 74121457-74169442 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 74165357 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 730 (E730*)
Ref Sequence ENSEMBL: ENSMUSP00000153255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035934] [ENSMUST00000036208] [ENSMUST00000221703] [ENSMUST00000225423]
AlphaFold G3X939
Predicted Effect probably benign
Transcript: ENSMUST00000035934
SMART Domains Protein: ENSMUSP00000039416
Gene: ENSMUSG00000034152

DomainStartEndE-ValueType
Pfam:Sec6 187 743 1.7e-162 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000036208
AA Change: E730*
SMART Domains Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: E730*

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Na_H_Exchanger 53 457 3.6e-87 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000221703
AA Change: E730*
Predicted Effect probably null
Transcript: ENSMUST00000225423
AA Change: E730*
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,138,329 D801G probably benign Het
Abce1 T C 8: 79,703,007 H95R possibly damaging Het
Axl T A 7: 25,758,877 M818L probably damaging Het
Cckbr C T 7: 105,434,031 A147V probably damaging Het
Cdc40 T C 10: 40,843,122 D337G probably damaging Het
Cep70 T C 9: 99,281,107 probably benign Het
Cpeb1 C T 7: 81,357,326 V318I probably damaging Het
Crlf1 G A 8: 70,503,640 probably null Het
Dnah6 A T 6: 73,032,587 D3740E probably benign Het
Dnajc28 C T 16: 91,616,441 R329Q possibly damaging Het
Ehmt2 T C 17: 34,910,767 Y946H probably damaging Het
Gapdhs C T 7: 30,729,879 probably benign Het
Gpr61 A T 3: 108,150,028 L439H probably damaging Het
Klf9 G T 19: 23,142,269 probably benign Het
Krt73 T C 15: 101,798,826 Y309C probably damaging Het
Lrrk1 T C 7: 66,262,563 M1750V probably benign Het
Mc1r G T 8: 123,407,630 G41C probably damaging Het
Mecr C A 4: 131,854,708 A133E probably damaging Het
Mon2 T C 10: 123,006,991 N1511S probably benign Het
Mrpl13 A T 15: 55,540,199 L106* probably null Het
Mrpl48 A T 7: 100,574,513 V1E possibly damaging Het
Myo1c T A 11: 75,669,033 W683R possibly damaging Het
Myo9a G A 9: 59,908,300 probably null Het
Myrfl A T 10: 116,777,405 I831K possibly damaging Het
Neurl4 T A 11: 69,906,831 Y671N probably damaging Het
Olfr347 A T 2: 36,734,477 D52V probably damaging Het
Olfr57 G T 10: 79,035,558 C254F probably benign Het
Opalin A T 19: 41,067,669 D62E probably benign Het
Otoa T C 7: 121,143,853 F768L probably damaging Het
Pde4b T A 4: 102,601,639 N497K probably damaging Het
Plcl2 T A 17: 50,607,355 L464Q probably damaging Het
Rfc3 A G 5: 151,642,914 *357R probably null Het
Ryr2 A G 13: 11,918,319 S89P probably benign Het
Sema3b C T 9: 107,600,993 V398I probably damaging Het
Setd3 A G 12: 108,108,555 probably null Het
Sgsh T C 11: 119,346,558 D410G probably damaging Het
Sptb A G 12: 76,620,753 S857P probably benign Het
Tmem132c T C 5: 127,563,090 L775P probably damaging Het
Togaram1 T C 12: 64,992,626 V1158A possibly damaging Het
Ttn A G 2: 76,776,878 F17934L probably damaging Het
Ube3b T C 5: 114,404,717 probably null Het
Ydjc A G 16: 17,147,605 E111G possibly damaging Het
Zp3r T A 1: 130,582,851 H443L probably benign Het
Other mutations in Slc9a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Slc9a3 APN 13 74160302 missense probably benign 0.19
IGL01299:Slc9a3 APN 13 74160263 missense probably benign 0.33
IGL01390:Slc9a3 APN 13 74150761 missense probably benign 0.01
IGL01814:Slc9a3 APN 13 74165972 missense probably damaging 0.96
IGL02020:Slc9a3 APN 13 74158848 missense probably damaging 0.99
IGL02072:Slc9a3 APN 13 74165859 missense probably benign 0.00
IGL02186:Slc9a3 APN 13 74163114 missense possibly damaging 0.94
IGL03056:Slc9a3 APN 13 74150819 missense probably damaging 1.00
R0090:Slc9a3 UTSW 13 74158728 missense probably damaging 0.99
R0280:Slc9a3 UTSW 13 74159424 missense probably damaging 1.00
R0359:Slc9a3 UTSW 13 74157607 missense probably damaging 1.00
R0388:Slc9a3 UTSW 13 74121536 missense unknown
R0396:Slc9a3 UTSW 13 74157784 critical splice donor site probably null
R0893:Slc9a3 UTSW 13 74159246 missense probably damaging 1.00
R1169:Slc9a3 UTSW 13 74150743 missense probably damaging 0.98
R1640:Slc9a3 UTSW 13 74158818 missense probably damaging 1.00
R1769:Slc9a3 UTSW 13 74163071 missense probably benign 0.00
R1850:Slc9a3 UTSW 13 74161770 missense probably benign 0.34
R1937:Slc9a3 UTSW 13 74166056 splice site probably null
R2048:Slc9a3 UTSW 13 74163741 missense probably damaging 1.00
R2146:Slc9a3 UTSW 13 74121603 missense probably benign 0.00
R2495:Slc9a3 UTSW 13 74158703 missense probably damaging 0.99
R2883:Slc9a3 UTSW 13 74158760 missense probably damaging 1.00
R2938:Slc9a3 UTSW 13 74121669 missense possibly damaging 0.62
R4538:Slc9a3 UTSW 13 74161732 missense possibly damaging 0.56
R4580:Slc9a3 UTSW 13 74158886 nonsense probably null
R4581:Slc9a3 UTSW 13 74164165 missense probably damaging 0.99
R4841:Slc9a3 UTSW 13 74165837 missense probably damaging 1.00
R4928:Slc9a3 UTSW 13 74157719 missense probably damaging 1.00
R4965:Slc9a3 UTSW 13 74164293 missense possibly damaging 0.62
R5079:Slc9a3 UTSW 13 74164287 missense probably damaging 0.97
R5329:Slc9a3 UTSW 13 74150960 missense possibly damaging 0.94
R5663:Slc9a3 UTSW 13 74163712 missense probably damaging 0.98
R5876:Slc9a3 UTSW 13 74161723 missense probably damaging 1.00
R5919:Slc9a3 UTSW 13 74158740 missense probably damaging 0.98
R6060:Slc9a3 UTSW 13 74150885 missense probably damaging 1.00
R6562:Slc9a3 UTSW 13 74155161 missense probably damaging 1.00
R6645:Slc9a3 UTSW 13 74164172 missense probably damaging 0.99
R7145:Slc9a3 UTSW 13 74150678 missense probably damaging 0.99
R7422:Slc9a3 UTSW 13 74150885 missense probably damaging 1.00
R7565:Slc9a3 UTSW 13 74157694 missense probably damaging 1.00
R7679:Slc9a3 UTSW 13 74160276 missense possibly damaging 0.88
R8032:Slc9a3 UTSW 13 74157644 missense probably damaging 1.00
R8080:Slc9a3 UTSW 13 74166027 missense probably benign 0.30
R8158:Slc9a3 UTSW 13 74155122 missense probably damaging 1.00
R8159:Slc9a3 UTSW 13 74164288 missense probably benign 0.01
R8837:Slc9a3 UTSW 13 74157704 missense probably damaging 1.00
R8939:Slc9a3 UTSW 13 74163776 missense possibly damaging 0.93
R9111:Slc9a3 UTSW 13 74150801 missense probably damaging 1.00
Z1176:Slc9a3 UTSW 13 74165856 missense probably benign 0.00
Posted On 2015-12-18