Incidental Mutation 'IGL02105:Slc9a5'
ID 279957
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 # IGL02105
Quality Score
Status
Chromosome 8
Chromosomal Location 106075475-106096513 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 106076075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 23 (P23S)
Ref Sequence ENSEMBL: ENSMUSP00000072893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014922] [ENSMUST00000073149]
AlphaFold B2RXE2
Predicted Effect probably benign
Transcript: ENSMUST00000014922
SMART Domains Protein: ENSMUSP00000014922
Gene: ENSMUSG00000014778

DomainStartEndE-ValueType
PDB:3DAD|B 1 339 N/A PDB
Blast:Drf_GBD 85 216 1e-48 BLAST
SCOP:d1ee4a_ 120 240 4e-4 SMART
Blast:FH2 231 318 6e-38 BLAST
low complexity region 342 357 N/A INTRINSIC
Blast:FH2 386 483 2e-10 BLAST
low complexity region 514 532 N/A INTRINSIC
low complexity region 573 643 N/A INTRINSIC
FH2 648 1100 3.16e-121 SMART
low complexity region 1119 1130 N/A INTRINSIC
Blast:FH2 1135 1179 1e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000073149
AA Change: P23S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072893
Gene: ENSMUSG00000014786
AA Change: P23S

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: ENSMUST00000132777
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 G T 3: 95,587,374 (GRCm39) P734H probably damaging Het
Arfip2 A T 7: 105,288,590 (GRCm39) I14N probably damaging Het
Asap3 G T 4: 135,955,785 (GRCm39) probably null Het
Atg2a T A 19: 6,300,433 (GRCm39) probably benign Het
Bbs12 T C 3: 37,374,296 (GRCm39) L248P probably damaging Het
Brd3 A T 2: 27,349,788 (GRCm39) I255N probably damaging Het
Ccdc141 A G 2: 76,879,921 (GRCm39) probably null Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd9 T A 8: 91,659,116 (GRCm39) D25E probably damaging Het
Cobl T C 11: 12,199,651 (GRCm39) K1325R probably damaging Het
Dnmt1 T A 9: 20,819,178 (GRCm39) E1486V unknown Het
Dock2 T C 11: 34,605,352 (GRCm39) N256D probably damaging Het
Dpp3 G A 19: 4,966,799 (GRCm39) S408L probably damaging Het
Dync2h1 C T 9: 7,075,892 (GRCm39) G2992R probably damaging Het
Eef1a1 T C 9: 78,387,833 (GRCm39) D35G probably benign Het
Fntb A G 12: 76,909,263 (GRCm39) K84E probably benign Het
Gfi1 A G 5: 107,871,588 (GRCm39) probably null Het
Glb1l3 T A 9: 26,729,823 (GRCm39) I516F probably damaging Het
Hltf A G 3: 20,146,921 (GRCm39) N560S probably damaging Het
Kif21b A G 1: 136,099,041 (GRCm39) N1443S probably benign Het
Knl1 T A 2: 118,902,289 (GRCm39) I1330K probably benign Het
Krt20 C T 11: 99,328,827 (GRCm39) V33M probably benign Het
Lao1 A G 4: 118,825,640 (GRCm39) T487A probably damaging Het
Larp4 A G 15: 99,883,952 (GRCm39) E63G probably damaging Het
Lrp1 A G 10: 127,380,448 (GRCm39) V3901A probably damaging Het
Lrrc17 A G 5: 21,775,255 (GRCm39) I272M probably benign Het
Malrd1 A T 2: 16,132,674 (GRCm39) Q1865L unknown Het
Mtg1 T C 7: 139,730,119 (GRCm39) L305P probably damaging Het
Mylk4 T A 13: 32,904,545 (GRCm39) E427D probably benign Het
Myom1 G T 17: 71,354,711 (GRCm39) probably benign Het
Nbeal1 A G 1: 60,292,660 (GRCm39) E1104G probably damaging Het
Obox5 A G 7: 15,492,500 (GRCm39) M152V probably benign Het
Olfm2 C T 9: 20,583,476 (GRCm39) V203M probably damaging Het
Or2l13 T G 16: 19,306,011 (GRCm39) L141R probably benign Het
Or8b12c A T 9: 37,715,891 (GRCm39) H228L possibly damaging Het
Pf4 A G 5: 90,921,114 (GRCm39) S105G probably damaging Het
Phlpp2 T A 8: 110,631,040 (GRCm39) I228N probably damaging Het
Sall1 T G 8: 89,759,196 (GRCm39) S303R probably damaging Het
Setd5 A G 6: 113,094,541 (GRCm39) E486G probably damaging Het
Tbc1d9b T A 11: 50,040,653 (GRCm39) I390N probably damaging Het
Trp53 T C 11: 69,479,329 (GRCm39) V169A probably damaging Het
Usp4 A G 9: 108,262,131 (GRCm39) D791G probably damaging Het
Vmn1r76 A G 7: 11,664,417 (GRCm39) S266P possibly damaging Het
Vmn2r27 A G 6: 124,174,308 (GRCm39) probably benign Het
Xirp1 C T 9: 119,846,063 (GRCm39) G940E probably damaging Het
Zfp407 A T 18: 84,580,845 (GRCm39) C89* probably null Het
Other mutations in Slc9a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02339:Slc9a5 APN 8 106,085,091 (GRCm39) missense probably damaging 1.00
IGL03220:Slc9a5 APN 8 106,094,652 (GRCm39) missense probably benign 0.09
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 2015-04-16