Incidental Mutation 'IGL00743:Slc9a7'
ID14129
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc9a7
Ensembl Gene ENSMUSG00000037341
Gene Namesolute carrier family 9 (sodium/hydrogen exchanger), member 7
SynonymsA530087D17Rik, NHE7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.144) question?
Stock #IGL00743
Quality Score
Status
ChromosomeX
Chromosomal Location20105754-20291807 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 20106021 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 708 (D708G)
Ref Sequence ENSEMBL: ENSMUSP00000072274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072451] [ENSMUST00000224372]
Predicted Effect possibly damaging
Transcript: ENSMUST00000072451
AA Change: D708G

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000072274
Gene: ENSMUSG00000037341
AA Change: D708G

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:Na_H_Exchanger 77 535 2e-94 PFAM
low complexity region 563 573 N/A INTRINSIC
low complexity region 676 685 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224372
AA Change: D295G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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 sodium and potassium/ proton antiporter that is a member of the solute carrier family 9 protein family. The encoded protein is primarily localized to the trans-Golgi network and is involved in maintaining pH homeostasis in organelles along the secretory and endocytic pathways. This protein may enhance cell growth of certain breast tumors. This gene is part of a gene cluster on chromosome Xp11.23. A pseudogene of this gene is found on chromosome 12. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 T C 2: 150,619,686 E659G probably benign Het
Adgrg6 A C 10: 14,535,959 probably benign Het
Als2cl A G 9: 110,889,159 K323E possibly damaging Het
Atm A C 9: 53,513,116 S628R probably benign Het
Baz2a T C 10: 128,114,526 V443A probably benign Het
Bclaf3 T A X: 159,558,361 F545Y probably benign Het
Calcr T C 6: 3,717,196 Y88C probably damaging Het
Ccdc178 C T 18: 22,145,444 probably benign Het
Cdh20 A G 1: 104,947,428 T312A probably benign Het
Chrnd G A 1: 87,192,927 W91* probably null Het
Cntln T C 4: 84,979,415 F413S probably benign Het
Ctsq A T 13: 61,036,184 I308N probably damaging Het
Cyp2d34 A T 15: 82,617,535 V258D probably damaging Het
Dnajc13 G A 9: 104,162,780 P2044S probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hps6 A T 19: 46,003,660 D12V probably damaging Het
Hpse T C 5: 100,698,999 D188G probably benign Het
Id2 C A 12: 25,095,356 E123* probably null Het
Ints10 C T 8: 68,819,333 P562L probably damaging Het
Kctd10 G A 5: 114,367,349 R195C probably damaging Het
Kel A C 6: 41,688,575 L537R probably damaging Het
Kif19a T C 11: 114,784,773 V357A probably damaging Het
Lrrtm3 A T 10: 64,089,209 S60T probably damaging Het
Myof C A 19: 37,960,934 R608L probably benign Het
Naa35 A T 13: 59,630,671 I669F probably benign Het
Olfr968 A G 9: 39,772,111 S230P possibly damaging Het
Olfr971 A T 9: 39,839,706 I91F probably benign Het
Pclo G T 5: 14,678,021 probably benign Het
Pik3c3 C T 18: 30,274,364 S55F probably damaging Het
Prdm6 T G 18: 53,540,228 D153E possibly damaging Het
Rnf183 T C 4: 62,428,373 T63A probably benign Het
Samd4b A C 7: 28,401,877 I108S probably damaging Het
Stim2 A G 5: 54,053,493 D90G probably benign Het
Tmem52b A G 6: 129,516,715 D97G probably damaging Het
Tnfsf15 T C 4: 63,734,281 R98G probably benign Het
Uxs1 C T 1: 43,757,013 V310I probably benign Het
Vcan A C 13: 89,725,306 M143R probably damaging Het
Vmn2r93 T C 17: 18,326,242 F792S probably damaging Het
Zfp455 T C 13: 67,207,898 I345T probably benign Het
Zfp938 A T 10: 82,226,483 M101K probably benign Het
Zkscan2 A G 7: 123,479,972 S921P probably damaging Het
Other mutations in Slc9a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Slc9a7 APN X 20138919 missense probably damaging 1.00
IGL02377:Slc9a7 APN X 20202724 missense probably damaging 1.00
IGL02960:Slc9a7 APN X 20186143 missense probably benign 0.17
IGL03029:Slc9a7 APN X 20291369 missense probably benign 0.00
R0539:Slc9a7 UTSW X 20202762 missense probably damaging 1.00
R0648:Slc9a7 UTSW X 20162420 unclassified probably benign
R1750:Slc9a7 UTSW X 20162478 missense probably damaging 0.97
R3891:Slc9a7 UTSW X 20186113 missense probably damaging 0.99
R4067:Slc9a7 UTSW X 20205554 missense probably damaging 1.00
X0018:Slc9a7 UTSW X 20291640 missense probably benign
Posted On2012-12-06