Incidental Mutation 'IGL01979:Slc9b1'
ID181802
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc9b1
Ensembl Gene ENSMUSG00000050150
Gene Namesolute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.117) question?
Stock #IGL01979
Quality Score
Status
Chromosome3
Chromosomal Location135348029-135397827 bp(+) (GRCm38)
Type of Mutationsplice site (3 bp from exon)
DNA Base Change (assembly) A to G at 135371982 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078568] [ENSMUST00000159658]
Predicted Effect probably benign
Transcript: ENSMUST00000078568
AA Change: I168V

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000077644
Gene: ENSMUSG00000050150
AA Change: I168V

DomainStartEndE-ValueType
low complexity region 32 105 N/A INTRINSIC
low complexity region 123 136 N/A INTRINSIC
Pfam:Na_H_Exchanger 148 542 4.7e-31 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000159658
SMART Domains Protein: ENSMUSP00000124452
Gene: ENSMUSG00000050150

DomainStartEndE-ValueType
low complexity region 10 83 N/A INTRINSIC
low complexity region 101 114 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160460
SMART Domains Protein: ENSMUSP00000124902
Gene: ENSMUSG00000050150

DomainStartEndE-ValueType
low complexity region 32 105 N/A INTRINSIC
low complexity region 123 136 N/A INTRINSIC
Pfam:Na_H_Exchanger 149 363 1.8e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162767
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 a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to testis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930435E12Rik A C 16: 38,827,893 S285A possibly damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Ap3b1 T A 13: 94,448,463 L394* probably null Het
Cdk2ap1 C T 5: 124,348,709 V57M probably damaging Het
Csnk2b T A 17: 35,118,016 N65I possibly damaging Het
Dennd4a G A 9: 64,894,409 E945K probably benign Het
Eif2b2 A G 12: 85,219,834 D59G probably benign Het
Ero1l A T 14: 45,287,744 N441K probably damaging Het
Fam91a1 A G 15: 58,432,584 D383G probably damaging Het
Fbxl7 C A 15: 26,789,563 S26I probably damaging Het
Il20 A T 1: 130,911,102 I42K probably damaging Het
Nav3 A G 10: 109,704,929 F1947L probably benign Het
Ncapd3 T A 9: 27,071,965 probably null Het
Numb G T 12: 83,842,277 H23N probably damaging Het
Olfr1419 G A 19: 11,871,223 probably benign Het
Olfr507 A G 7: 108,622,441 I210V probably benign Het
Ppp1r1b C T 11: 98,356,840 T111I probably damaging Het
Rad50 G A 11: 53,686,178 Q528* probably null Het
Scara3 A T 14: 65,930,963 S402T probably benign Het
Sept3 A G 15: 82,284,392 Y132C probably damaging Het
Sim2 C A 16: 94,123,482 N495K possibly damaging Het
Tanc2 A G 11: 105,776,920 D109G probably benign Het
Traf1 T C 2: 34,943,893 I404V probably benign Het
Vmn2r68 C A 7: 85,222,117 V653L probably benign Het
Wdr93 A T 7: 79,776,652 Q555L probably benign Het
Other mutations in Slc9b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02793:Slc9b1 APN 3 135374406 unclassified probably benign
IGL02875:Slc9b1 APN 3 135374406 unclassified probably benign
IGL02977:Slc9b1 APN 3 135397723 missense probably damaging 1.00
IGL02990:Slc9b1 APN 3 135394983 splice site probably null
IGL03112:Slc9b1 APN 3 135397672 missense probably damaging 1.00
IGL03277:Slc9b1 APN 3 135390508 missense possibly damaging 0.46
IGL03409:Slc9b1 APN 3 135394909 missense probably damaging 0.99
R0190:Slc9b1 UTSW 3 135357673 missense unknown
R0329:Slc9b1 UTSW 3 135373235 nonsense probably null
R0591:Slc9b1 UTSW 3 135382832 missense possibly damaging 0.88
R0592:Slc9b1 UTSW 3 135394074 splice site probably benign
R0602:Slc9b1 UTSW 3 135397755 missense probably benign 0.00
R0893:Slc9b1 UTSW 3 135394890 missense probably benign 0.15
R1250:Slc9b1 UTSW 3 135348770 start codon destroyed probably null
R1619:Slc9b1 UTSW 3 135355004 splice site probably null
R1840:Slc9b1 UTSW 3 135357468 missense unknown
R3157:Slc9b1 UTSW 3 135371845 missense probably damaging 1.00
R3159:Slc9b1 UTSW 3 135371845 missense probably damaging 1.00
R4565:Slc9b1 UTSW 3 135382717 missense probably damaging 1.00
R5138:Slc9b1 UTSW 3 135357773 intron probably benign
R5154:Slc9b1 UTSW 3 135373179 missense probably damaging 1.00
R5429:Slc9b1 UTSW 3 135373263 critical splice donor site probably null
R5677:Slc9b1 UTSW 3 135357559 missense unknown
R5903:Slc9b1 UTSW 3 135392894 intron probably benign
R5933:Slc9b1 UTSW 3 135393995 missense probably benign 0.30
R6593:Slc9b1 UTSW 3 135357458 start codon destroyed probably null
R6667:Slc9b1 UTSW 3 135371965 missense probably damaging 0.99
R6788:Slc9b1 UTSW 3 135357757 splice site probably null
R7974:Slc9b1 UTSW 3 135394030 missense possibly damaging 0.57
R8210:Slc9b1 UTSW 3 135392187 missense probably damaging 1.00
R8276:Slc9b1 UTSW 3 135371897 missense possibly damaging 0.63
RF006:Slc9b1 UTSW 3 135357542 small deletion probably benign
Posted On2014-05-07