Incidental Mutation 'R6834:Slc9a5'
ID 534515
Institutional Source Beutler Lab
Gene Symbol Slc9a5
Ensembl Gene ENSMUSG00000014786
Gene Name solute carrier family 9 (sodium/hydrogen exchanger), member 5
Synonyms LOC277973
MMRRC Submission 044943-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R6834 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 106075475-106096513 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 106091316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 699 (A699S)
Ref Sequence ENSEMBL: ENSMUSP00000072893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073149]
AlphaFold B2RXE2
Predicted Effect probably benign
Transcript: ENSMUST00000073149
AA Change: A699S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000072893
Gene: ENSMUSG00000014786
AA Change: A699S

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
Meta Mutation Damage Score 0.0585 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,225,110 (GRCm39) W530R possibly damaging Het
Aco1 A G 4: 40,164,747 (GRCm39) K79R probably benign Het
Adam15 C T 3: 89,247,390 (GRCm39) G426R probably damaging Het
Angptl1 A T 1: 156,672,263 (GRCm39) I30L probably benign Het
Ankrd35 A G 3: 96,590,599 (GRCm39) E295G possibly damaging Het
Ap5m1 T A 14: 49,311,194 (GRCm39) V88E probably damaging Het
Astn1 A T 1: 158,491,692 (GRCm39) Q47L probably benign Het
Atf6b T C 17: 34,868,131 (GRCm39) S135P probably damaging Het
AU018091 T A 7: 3,207,795 (GRCm39) I589F probably benign Het
Cdin1 T C 2: 115,505,265 (GRCm39) S179P probably benign Het
Cenpf T C 1: 189,391,643 (GRCm39) K730E probably damaging Het
Chrna6 C T 8: 27,898,338 (GRCm39) probably null Het
Dmxl1 A T 18: 50,088,890 (GRCm39) I2790F probably damaging Het
Ell A G 8: 71,031,784 (GRCm39) D116G probably damaging Het
Eml5 A T 12: 98,853,283 (GRCm39) H105Q probably damaging Het
Epb41l2 T A 10: 25,369,502 (GRCm39) V23D possibly damaging Het
Gatad2b T A 3: 90,255,950 (GRCm39) S139T probably benign Het
Glb1l A G 1: 75,178,397 (GRCm39) V347A possibly damaging Het
Gm4846 A T 1: 166,322,147 (GRCm39) I140N possibly damaging Het
Gng11 A G 6: 4,008,068 (GRCm39) I44V probably benign Het
Hsd17b8 T C 17: 34,246,191 (GRCm39) S161G probably damaging Het
Hsp90ab1 T C 17: 45,881,393 (GRCm39) I250V probably benign Het
Igkv4-79 A G 6: 69,020,256 (GRCm39) S20P probably damaging Het
Il11ra1 A G 4: 41,765,454 (GRCm39) H183R probably benign Het
Kcnip3 A T 2: 127,300,278 (GRCm39) F252I probably damaging Het
Klk12 T C 7: 43,422,772 (GRCm39) V233A possibly damaging Het
Klk1b11 T C 7: 43,428,336 (GRCm39) I242T probably damaging Het
Lama3 G A 18: 12,624,605 (GRCm39) C1450Y probably damaging Het
Lmod2 A T 6: 24,597,782 (GRCm39) probably benign Het
Loxhd1 T A 18: 77,529,222 (GRCm39) V1089E probably damaging Het
Lrba C T 3: 86,257,593 (GRCm39) P1286S probably benign Het
Lrrc41 T C 4: 115,953,726 (GRCm39) V804A possibly damaging Het
Lrrc8a T A 2: 30,145,659 (GRCm39) S158T possibly damaging Het
Mcm3 A T 1: 20,880,320 (GRCm39) M504K possibly damaging Het
Med24 A T 11: 98,595,850 (GRCm39) probably null Het
Mrgprx1 T C 7: 47,671,385 (GRCm39) S121G probably damaging Het
Mvb12a G A 8: 71,997,896 (GRCm39) M103I probably benign Het
Or4k15c A G 14: 50,321,685 (GRCm39) V151A probably damaging Het
Or4k2 T C 14: 50,423,940 (GRCm39) I245V probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pacsin3 T A 2: 91,093,180 (GRCm39) M224K probably damaging Het
Pam T A 1: 97,765,717 (GRCm39) I771F probably damaging Het
Pamr1 C T 2: 102,445,276 (GRCm39) R270C probably damaging Het
Pcdhgb8 G T 18: 37,895,142 (GRCm39) A71S probably benign Het
Poc1b C T 10: 99,028,666 (GRCm39) A336V probably benign Het
Prss39 G T 1: 34,537,697 (GRCm39) V54F possibly damaging Het
Ptar1 A G 19: 23,695,288 (GRCm39) T252A probably benign Het
Ptprz1 A G 6: 22,999,632 (GRCm39) D574G probably benign Het
Rnf40 G A 7: 127,195,578 (GRCm39) D635N probably benign Het
Scn1a T A 2: 66,158,086 (GRCm39) Q429L probably damaging Het
Sf1 G T 19: 6,424,127 (GRCm39) G386C probably damaging Het
Shank2 A T 7: 143,963,631 (GRCm39) Y623F probably damaging Het
Sox9 A T 11: 112,674,826 (GRCm39) Q208L probably benign Het
Synpo2l A T 14: 20,710,702 (GRCm39) D865E probably damaging Het
Szt2 A G 4: 118,245,522 (GRCm39) S1097P probably benign Het
Tmc1 C A 19: 20,772,974 (GRCm39) E676* probably null Het
Ubr3 T C 2: 69,830,825 (GRCm39) I158T possibly damaging Het
Ush2a T C 1: 188,088,989 (GRCm39) Y315H probably damaging Het
Vmn1r85 T C 7: 12,818,571 (GRCm39) D191G probably damaging Het
Vmn2r-ps158 G C 7: 42,673,004 (GRCm39) A143P probably damaging Het
Zfp358 A G 8: 3,545,613 (GRCm39) D92G probably benign Het
Zfp735 G A 11: 73,601,434 (GRCm39) G126D probably damaging Het
Zpld2 A C 4: 133,920,476 (GRCm39) V563G 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
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
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
Predicted Primers PCR Primer
(F):5'- TCACGTCCAACACTCTAGGC -3'
(R):5'- GAACCAGGTTCTAAGGCTCTGAG -3'

Sequencing Primer
(F):5'- GTCCAACACTCTAGGCCACTG -3'
(R):5'- GTCCTTGGATACGGTAACCAG -3'
Posted On 2018-09-12