Incidental Mutation 'IGL03220:Slc9a5'
ID 413630
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc9a5
Ensembl Gene ENSMUSG00000014786
Gene Name solute carrier family 9 (sodium/hydrogen exchanger), member 5
Synonyms LOC277973
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # IGL03220
Quality Score
Status
Chromosome 8
Chromosomal Location 106075475-106096513 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106094652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 748 (C748S)
Ref Sequence ENSEMBL: ENSMUSP00000072893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073149]
AlphaFold B2RXE2
Predicted Effect probably benign
Transcript: ENSMUST00000073149
AA Change: C748S

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000072893
Gene: ENSMUSG00000014786
AA Change: C748S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 28 39 N/A INTRINSIC
Pfam:Na_H_Exchanger 53 458 9.8e-89 PFAM
low complexity region 705 723 N/A INTRINSIC
low complexity region 807 823 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212772
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 T A 1: 179,615,767 (GRCm39) E368D probably benign Het
Arid2 A T 15: 96,259,653 (GRCm39) H271L probably damaging Het
Bsnd G T 4: 106,343,962 (GRCm39) Q115K possibly damaging Het
Ceacam5 T A 7: 17,494,653 (GRCm39) I887N probably damaging Het
Clrn2 T C 5: 45,621,070 (GRCm39) F155L probably damaging Het
Col12a1 A G 9: 79,606,765 (GRCm39) S553P probably damaging Het
Crnn C T 3: 93,056,674 (GRCm39) H487Y possibly damaging Het
Ddi2 T C 4: 141,435,767 (GRCm39) N90S probably benign Het
Deup1 T A 9: 15,503,707 (GRCm39) I285L probably benign Het
Dlgap4 T C 2: 156,546,546 (GRCm39) S405P probably damaging Het
Dnah11 A G 12: 118,069,720 (GRCm39) F1560L probably benign Het
Dock1 T C 7: 134,710,251 (GRCm39) probably null Het
Dst C A 1: 34,225,076 (GRCm39) Q1161K probably damaging Het
Dus1l G T 11: 120,683,185 (GRCm39) H280N probably damaging Het
Gm21985 C A 2: 112,187,829 (GRCm39) H964N possibly damaging Het
Gzmd A T 14: 56,367,886 (GRCm39) V129E probably damaging Het
Hmcn2 T A 2: 31,236,633 (GRCm39) F392Y possibly damaging Het
Kdelr2 T A 5: 143,403,870 (GRCm39) Y86* probably null Het
Kif26b T G 1: 178,692,434 (GRCm39) C458W probably damaging Het
Lhpp G A 7: 132,252,020 (GRCm39) V220I probably benign Het
Nfya T C 17: 48,707,521 (GRCm39) N7S possibly damaging Het
Or5ar1 G T 2: 85,671,326 (GRCm39) Q270K possibly damaging Het
Or5b12b C T 19: 12,861,815 (GRCm39) T190I possibly damaging Het
Or5b24 A C 19: 12,912,858 (GRCm39) Y252S probably damaging Het
Prkg1 A T 19: 30,546,637 (GRCm39) probably benign Het
Prpf6 A G 2: 181,274,672 (GRCm39) E383G probably damaging Het
Ptpn21 A T 12: 98,644,882 (GRCm39) V1153E probably damaging Het
Ryr1 A T 7: 28,759,280 (GRCm39) I3330N probably damaging Het
Sgk1 A G 10: 21,873,290 (GRCm39) D252G probably null Het
Shcbp1l T C 1: 153,308,911 (GRCm39) probably benign Het
Shoc1 G A 4: 59,082,378 (GRCm39) Q417* probably null Het
Skida1 T C 2: 18,052,972 (GRCm39) D60G probably damaging Het
Smc4 A T 3: 68,916,875 (GRCm39) Y163F possibly damaging Het
Spdya T C 17: 71,885,286 (GRCm39) S247P possibly damaging Het
Sptb T C 12: 76,659,684 (GRCm39) D1072G probably benign Het
St7l A T 3: 104,782,139 (GRCm39) probably benign Het
Trmt1l T C 1: 151,316,692 (GRCm39) probably benign Het
Tspan4 A G 7: 141,071,712 (GRCm39) Y153C probably damaging Het
Ulk4 A T 9: 120,974,402 (GRCm39) N944K probably damaging Het
Unc80 T C 1: 66,544,097 (GRCm39) C407R probably damaging Het
Zfp563 T G 17: 33,323,661 (GRCm39) S85R probably benign Het
Zp2 A C 7: 119,736,450 (GRCm39) L331R possibly damaging Het
Other mutations in Slc9a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02105:Slc9a5 APN 8 106,076,075 (GRCm39) missense probably damaging 0.99
IGL02339:Slc9a5 APN 8 106,085,091 (GRCm39) missense probably damaging 1.00
stein UTSW 8 106,091,316 (GRCm39) missense probably benign 0.00
P0026:Slc9a5 UTSW 8 106,081,923 (GRCm39) missense probably damaging 1.00
R0680:Slc9a5 UTSW 8 106,082,539 (GRCm39) missense probably null 1.00
R0990:Slc9a5 UTSW 8 106,086,078 (GRCm39) missense probably damaging 1.00
R1440:Slc9a5 UTSW 8 106,081,785 (GRCm39) missense possibly damaging 0.91
R1625:Slc9a5 UTSW 8 106,094,755 (GRCm39) missense possibly damaging 0.88
R1737:Slc9a5 UTSW 8 106,094,766 (GRCm39) missense probably damaging 1.00
R4169:Slc9a5 UTSW 8 106,084,032 (GRCm39) missense possibly damaging 0.77
R4209:Slc9a5 UTSW 8 106,085,103 (GRCm39) missense possibly damaging 0.89
R4210:Slc9a5 UTSW 8 106,085,103 (GRCm39) missense possibly damaging 0.89
R4211:Slc9a5 UTSW 8 106,085,103 (GRCm39) missense possibly damaging 0.89
R4345:Slc9a5 UTSW 8 106,076,087 (GRCm39) missense probably benign
R4665:Slc9a5 UTSW 8 106,094,760 (GRCm39) missense probably damaging 1.00
R5058:Slc9a5 UTSW 8 106,082,490 (GRCm39) missense probably benign 0.03
R5553:Slc9a5 UTSW 8 106,083,672 (GRCm39) missense probably damaging 1.00
R5574:Slc9a5 UTSW 8 106,091,323 (GRCm39) missense probably benign 0.12
R5631:Slc9a5 UTSW 8 106,076,141 (GRCm39) missense possibly damaging 0.73
R5645:Slc9a5 UTSW 8 106,083,645 (GRCm39) missense probably benign 0.00
R5856:Slc9a5 UTSW 8 106,083,797 (GRCm39) missense possibly damaging 0.58
R5907:Slc9a5 UTSW 8 106,083,807 (GRCm39) critical splice donor site probably null
R6481:Slc9a5 UTSW 8 106,085,025 (GRCm39) nonsense probably null
R6799:Slc9a5 UTSW 8 106,090,600 (GRCm39) missense possibly damaging 0.84
R6834:Slc9a5 UTSW 8 106,091,316 (GRCm39) missense probably benign 0.00
R6938:Slc9a5 UTSW 8 106,080,064 (GRCm39) missense probably damaging 1.00
R7064:Slc9a5 UTSW 8 106,076,078 (GRCm39) missense possibly damaging 0.91
R7095:Slc9a5 UTSW 8 106,084,268 (GRCm39) missense probably benign 0.16
R7152:Slc9a5 UTSW 8 106,095,025 (GRCm39) missense probably benign 0.03
R7303:Slc9a5 UTSW 8 106,083,345 (GRCm39) missense probably damaging 0.99
R7508:Slc9a5 UTSW 8 106,089,885 (GRCm39) splice site probably null
R7583:Slc9a5 UTSW 8 106,089,904 (GRCm39) missense possibly damaging 0.62
R7895:Slc9a5 UTSW 8 106,089,998 (GRCm39) missense probably damaging 1.00
R8077:Slc9a5 UTSW 8 106,086,012 (GRCm39) missense probably damaging 1.00
R8217:Slc9a5 UTSW 8 106,089,956 (GRCm39) missense probably damaging 0.97
R8751:Slc9a5 UTSW 8 106,085,981 (GRCm39) missense probably damaging 1.00
R9170:Slc9a5 UTSW 8 106,080,139 (GRCm39) missense probably damaging 1.00
X0058:Slc9a5 UTSW 8 106,081,937 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02