Incidental Mutation 'IGL02960:Slc9a7'
ID365321
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: 0.133) question?
Stock #IGL02960
Quality Score
Status
ChromosomeX
Chromosomal Location20105754-20291807 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 20186143 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 237 (M237T)
Ref Sequence ENSEMBL: ENSMUSP00000111051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072451] [ENSMUST00000115393]
Predicted Effect probably benign
Transcript: ENSMUST00000072451
AA Change: M237T

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000072274
Gene: ENSMUSG00000037341
AA Change: M237T

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: ENSMUST00000115393
AA Change: M237T

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000111051
Gene: ENSMUSG00000037341
AA Change: M237T

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:Na_H_Exchanger 77 535 8.6e-88 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130938
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151845
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,142,808 R14C probably benign Het
Adam29 A T 8: 55,872,666 L251* probably null Het
Atpaf2 T C 11: 60,405,824 E161G probably damaging Het
Brwd1 T C 16: 96,057,466 D381G probably damaging Het
Cept1 T A 3: 106,539,396 R45* probably null Het
Col3a1 A G 1: 45,328,455 E273G unknown Het
Cuzd1 T C 7: 131,320,103 N57D probably benign Het
Cyp2b13 A G 7: 26,061,676 K53E probably benign Het
Fadd T C 7: 144,580,539 E203G probably benign Het
Gm14548 T C 7: 3,897,079 T175A possibly damaging Het
Gm3159 G A 14: 4,400,552 probably null Het
Gpr137c T C 14: 45,246,433 F206L possibly damaging Het
Hephl1 G T 9: 15,084,319 T471N probably damaging Het
Ido1 A T 8: 24,593,329 probably benign Het
Krt40 C T 11: 99,539,867 probably null Het
Lrp2 T A 2: 69,455,453 probably benign Het
Lrrc8a T A 2: 30,257,013 L613H probably damaging Het
Mettl14 A G 3: 123,374,885 Y169H probably damaging Het
Nlrp4a A G 7: 26,449,730 Q254R probably benign Het
Olfr1211 A C 2: 88,929,784 M177R possibly damaging Het
Olfr1356 A T 10: 78,847,537 I126N probably damaging Het
Pkhd1 A T 1: 20,377,446 M2241K possibly damaging Het
Ptprd G A 4: 76,128,868 S387L probably damaging Het
Ryr1 A C 7: 29,060,053 L3264R probably damaging Het
Serpina16 G A 12: 103,675,379 T29I probably benign Het
Tbck A G 3: 132,722,783 T300A probably benign Het
Tcaf1 A C 6: 42,686,459 D162E probably benign Het
Unc80 G A 1: 66,678,058 probably benign Het
Usp17le A C 7: 104,768,740 H398Q probably benign Het
Utp15 G A 13: 98,252,881 T303M probably benign Het
Vmn2r86 A C 10: 130,453,767 D86E possibly damaging Het
Zmym2 T A 14: 56,938,413 C822S probably benign Het
Zp3r T C 1: 130,583,438 D336G possibly damaging Het
Zpr1 A G 9: 46,273,551 H82R probably damaging Het
Other mutations in Slc9a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Slc9a7 APN X 20138919 missense probably damaging 1.00
IGL00743:Slc9a7 APN X 20106021 missense possibly damaging 0.81
IGL02377:Slc9a7 APN X 20202724 missense probably damaging 1.00
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
Z1176:Slc9a7 UTSW X 20186059 critical splice donor site probably null
Z1176:Slc9a7 UTSW X 20291739 start gained probably benign
Z1177:Slc9a7 UTSW X 20291588 missense probably damaging 1.00
Posted On2015-12-18