Incidental Mutation 'IGL02072:Slc9a3'
ID185865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc9a3
Ensembl Gene ENSMUSG00000036123
Gene Namesolute carrier family 9 (sodium/hydrogen exchanger), member 3
Synonyms9030624O13Rik, NHE-3, NHE3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02072
Quality Score
Status
Chromosome13
Chromosomal Location74121457-74169442 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 74165859 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 762 (I762T)
Ref Sequence ENSEMBL: ENSMUSP00000152682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035934] [ENSMUST00000036208] [ENSMUST00000221703] [ENSMUST00000225423]
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 benign
Transcript: ENSMUST00000036208
AA Change: I762T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000038142
Gene: ENSMUSG00000036123
AA Change: I762T

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: I762T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000225423
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595D18Rik T A 12: 111,161,820 probably benign Het
Atm A G 9: 53,459,796 S2251P probably benign Het
C1qtnf6 T A 15: 78,527,351 K42* probably null Het
Ddx20 A T 3: 105,680,627 V379E probably damaging Het
Dnah7a A T 1: 53,605,827 W1017R probably damaging Het
Eif2s1 T A 12: 78,880,014 N179K probably benign Het
Exosc9 A T 3: 36,554,672 N140I probably damaging Het
Fam84b A G 15: 60,823,453 L148P probably damaging Het
Fancg A C 4: 43,007,062 H238Q probably benign Het
Fyttd1 A G 16: 32,900,661 I110V probably damaging Het
G6pd2 A T 5: 61,809,410 D176V probably damaging Het
Gm5114 A G 7: 39,411,402 S8P probably benign Het
Hoxa1 T A 6: 52,156,898 M283L probably damaging Het
Hspbp1 A T 7: 4,677,721 L252H probably damaging Het
Itgb2l A T 16: 96,430,608 D319E probably benign Het
Kdm6a A G X: 18,254,289 T737A probably benign Het
Kmt2c A T 5: 25,405,432 D225E possibly damaging Het
Lamb2 T A 9: 108,481,908 Y274* probably null Het
Mamdc4 A G 2: 25,568,339 L353P probably damaging Het
Mid2 T A X: 140,736,452 H258Q probably damaging Het
Msh3 A C 13: 92,300,295 N502K probably damaging Het
Nalcn T C 14: 123,323,358 H769R probably benign Het
Nfx1 A G 4: 41,016,119 I894V probably benign Het
Notch3 G A 17: 32,147,074 Q1018* probably null Het
Oas1e A G 5: 120,791,781 probably null Het
Olfr1316 A T 2: 112,130,081 H243Q probably damaging Het
Olfr854 A G 9: 19,566,949 I145T probably benign Het
Plekha4 T A 7: 45,538,298 F265I probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Spag1 C A 15: 36,190,512 P158Q probably damaging Het
Spout1 G A 2: 30,177,926 Q26* probably null Het
Sulf1 T C 1: 12,848,208 Y50H probably damaging Het
Sytl5 C T X: 9,963,586 probably benign Het
Tcof1 T C 18: 60,831,565 E663G possibly damaging Het
Tmc3 A G 7: 83,615,940 I681V probably benign Het
Tnfsf4 G T 1: 161,417,289 C183F probably damaging Het
Ubqln3 A T 7: 104,141,299 L528Q possibly damaging Het
Upf3a A C 8: 13,798,368 Q388P probably damaging Het
Vrk1 T C 12: 106,042,885 V70A 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
IGL02186:Slc9a3 APN 13 74163114 missense possibly damaging 0.94
IGL02878:Slc9a3 APN 13 74165357 nonsense probably null
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 unclassified 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
Posted On2014-05-07