Incidental Mutation 'IGL02977:Slc9b1'
ID406422
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: 0.085) question?
Stock #IGL02977
Quality Score
Status
Chromosome3
Chromosomal Location135348029-135397827 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 135397723 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 538 (L538P)
Ref Sequence ENSEMBL: ENSMUSP00000077644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078568] [ENSMUST00000161417]
Predicted Effect probably damaging
Transcript: ENSMUST00000078568
AA Change: L538P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077644
Gene: ENSMUSG00000050150
AA Change: L538P

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 noncoding transcript
Transcript: ENSMUST00000159276
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 probably benign
Transcript: ENSMUST00000161417
SMART Domains Protein: ENSMUSP00000125203
Gene: ENSMUSG00000050150

DomainStartEndE-ValueType
Pfam:Na_H_Exchanger 2 75 1.1e-7 PFAM
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik C T 8: 124,861,191 V57M probably benign Het
4933440M02Rik T A 7: 125,331,702 noncoding transcript Het
9530053A07Rik C T 7: 28,164,372 T2523M possibly damaging Het
Bmp5 A G 9: 75,893,799 T404A probably damaging Het
Cep192 T C 18: 67,852,905 V1660A probably damaging Het
Csmd2 C A 4: 128,493,276 Y2121* probably null Het
Daam1 G A 12: 71,944,172 A187T unknown Het
Dnaja4 T C 9: 54,714,510 L343P possibly damaging Het
Dym T C 18: 75,063,175 probably null Het
F5 A T 1: 164,194,021 D1355V probably damaging Het
Gcnt1 A T 19: 17,329,374 I329N probably damaging Het
Gm10110 T C 14: 89,897,332 noncoding transcript Het
Hdgfl2 A G 17: 56,099,319 N569S possibly damaging Het
Hivep1 T C 13: 42,155,936 S551P possibly damaging Het
Hpse2 G A 19: 42,789,122 probably benign Het
Hspe1 T C 1: 55,091,073 Y88H probably benign Het
Ifi44 A T 3: 151,739,379 M312K probably benign Het
Lrp1b T G 2: 40,730,735 D3577A probably damaging Het
Mapk13 G T 17: 28,776,348 G181V probably damaging Het
Olfr1164 T C 2: 88,093,571 I122V probably benign Het
Olfr464 A G 11: 87,914,130 S259P possibly damaging Het
Oprl1 G T 2: 181,718,511 C115F probably damaging Het
Psg22 A G 7: 18,719,599 D112G probably benign Het
Rp1l1 T A 14: 64,028,150 I395N probably benign Het
Simc1 T C 13: 54,526,307 S823P probably benign Het
Smad2 T A 18: 76,289,164 Y216N possibly damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tonsl T A 15: 76,632,873 Q882L probably benign Het
Trav13-2 C T 14: 53,635,307 T80I probably damaging Het
Uaca C T 9: 60,866,380 P388S probably benign Het
Vmn2r116 A G 17: 23,388,774 R439G possibly damaging Het
Vmn2r18 C A 5: 151,586,684 A75S probably damaging Het
Other mutations in Slc9b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01979:Slc9b1 APN 3 135371982 unclassified probably null
IGL02793:Slc9b1 APN 3 135374406 unclassified probably benign
IGL02875:Slc9b1 APN 3 135374406 unclassified probably benign
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
RF006:Slc9b1 UTSW 3 135357542 small deletion probably benign
Posted On2016-08-02