Incidental Mutation 'R0680:Slc9a5'
ID 61753
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 038865-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R0680 (G1)
Quality Score 193
Status Not validated
Chromosome 8
Chromosomal Location 106075475-106096513 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106082539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 268 (L268Q)
Ref Sequence ENSEMBL: ENSMUSP00000072893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073149]
AlphaFold B2RXE2
Predicted Effect probably null
Transcript: ENSMUST00000073149
AA Change: L268Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072893
Gene: ENSMUSG00000014786
AA Change: L268Q

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
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clca4a A T 3: 144,675,128 (GRCm39) F167L probably damaging Het
Col6a3 T C 1: 90,706,703 (GRCm39) M2137V unknown Het
Dennd2a A T 6: 39,459,996 (GRCm39) L703Q probably damaging Het
Fsip2 T A 2: 82,821,703 (GRCm39) I5812N possibly damaging Het
Gen1 T A 12: 11,291,870 (GRCm39) S640C probably benign Het
Il9 T C 13: 56,629,693 (GRCm39) T61A probably benign Het
Lrp1 A G 10: 127,425,530 (GRCm39) L700P probably damaging Het
Lyst G A 13: 13,824,926 (GRCm39) V1514I probably benign Het
Med1 A T 11: 98,070,992 (GRCm39) probably null Het
Or14a257 A T 7: 86,138,545 (GRCm39) F71L probably benign Het
Or4c11c A T 2: 88,662,124 (GRCm39) Y221F probably benign Het
Or52n2 A G 7: 104,542,211 (GRCm39) I208T probably benign Het
Or6c69b T A 10: 129,626,687 (GRCm39) Y257F probably damaging Het
Pcdhb18 G C 18: 37,623,347 (GRCm39) A226P probably damaging Het
Pirb T A 7: 3,720,360 (GRCm39) N338Y possibly damaging Het
Rc3h2 A C 2: 37,289,847 (GRCm39) I360R probably damaging Het
Rnf139 T C 15: 58,771,501 (GRCm39) Y509H probably damaging Het
Shisa7 T A 7: 4,834,722 (GRCm39) D279V probably benign Het
Shoc1 T C 4: 59,043,967 (GRCm39) D1449G probably benign Het
Slc6a3 T C 13: 73,686,846 (GRCm39) L71P probably damaging Het
St7 T C 6: 17,942,732 (GRCm39) S563P probably damaging Het
Stx1b A G 7: 127,406,895 (GRCm39) V240A possibly damaging Het
Sugt1 A G 14: 79,847,751 (GRCm39) I200M possibly damaging Het
Trp53bp1 C A 2: 121,082,349 (GRCm39) A317S probably null Het
Tut7 G A 13: 59,948,413 (GRCm39) T636I possibly damaging Het
Ube4a T A 9: 44,859,358 (GRCm39) Q380L probably damaging Het
Ugt1a2 A G 1: 88,128,933 (GRCm39) Y192C probably damaging Het
Ulbp3 T A 10: 3,075,133 (GRCm39) noncoding transcript Het
Unc93b1 G A 19: 3,997,093 (GRCm39) V505I probably benign Het
Usp29 T C 7: 6,965,884 (GRCm39) S576P possibly damaging Het
Vcan A T 13: 89,827,941 (GRCm39) H2208Q probably damaging Het
Zfp106 T A 2: 120,357,497 (GRCm39) S1133C probably damaging Het
Zfp148 A G 16: 33,316,174 (GRCm39) D282G possibly damaging Het
Zswim9 A C 7: 12,994,248 (GRCm39) V636G probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CGTTTGGGACAGAGGAGGCTATTC -3'
(R):5'- CCAAAGACCTTGCGTTTGGTCAC -3'

Sequencing Primer
(F):5'- GGAGGCTATTCCGATGTCTCATTC -3'
(R):5'- GGTCACGTAAAGTATTGACTCTCC -3'
Posted On 2013-07-30