Incidental Mutation 'R5856:Slc9a5'
ID 454913
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 043230-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R5856 (G1)
Quality Score 144
Status Not validated
Chromosome 8
Chromosomal Location 106075475-106096513 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106083797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 446 (I446V)
Ref Sequence ENSEMBL: ENSMUSP00000072893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073149]
AlphaFold B2RXE2
Predicted Effect possibly damaging
Transcript: ENSMUST00000073149
AA Change: I446V

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000072893
Gene: ENSMUSG00000014786
AA Change: I446V

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: 99.9%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Adgrf5 A G 17: 43,757,011 (GRCm39) T497A probably benign Het
Ano5 T C 7: 51,235,074 (GRCm39) I669T probably benign Het
Arhgap11a A T 2: 113,664,116 (GRCm39) N722K possibly damaging Het
Atm A T 9: 53,407,255 (GRCm39) I1161K possibly damaging Het
Atp13a4 T C 16: 29,252,805 (GRCm39) T714A possibly damaging Het
BC051665 T A 13: 60,932,314 (GRCm39) M92L probably benign Het
Car3 G A 3: 14,936,701 (GRCm39) V255M probably damaging Het
Cnot11 C A 1: 39,576,534 (GRCm39) F179L probably benign Het
Dctn1 A G 6: 83,174,847 (GRCm39) Y1013C probably damaging Het
Gm19965 A G 1: 116,749,579 (GRCm39) D420G probably benign Het
Gm5444 A G 13: 4,821,683 (GRCm39) noncoding transcript Het
Hydin A T 8: 111,268,474 (GRCm39) D2946V probably damaging Het
Hyou1 C T 9: 44,292,641 (GRCm39) R119C probably damaging Het
Ighm A T 12: 113,385,222 (GRCm39) L246Q unknown Het
Itpr3 A G 17: 27,325,379 (GRCm39) E1324G probably damaging Het
Loxl4 G T 19: 42,583,805 (GRCm39) Q749K possibly damaging Het
Muc2 C A 7: 141,299,381 (GRCm39) probably benign Het
Myh11 T C 16: 14,023,840 (GRCm39) T1505A probably benign Het
Nsmce2 A G 15: 59,250,792 (GRCm39) E21G probably damaging Het
Or13c3 T A 4: 52,856,516 (GRCm39) probably benign Het
Or4c115 T A 2: 88,928,254 (GRCm39) I6F probably benign Het
Plaa A G 4: 94,471,724 (GRCm39) I375T probably benign Het
Pou2f1 C T 1: 165,742,699 (GRCm39) A65T probably benign Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Rxfp1 T A 3: 79,570,620 (GRCm39) N271Y possibly damaging Het
Sema5b T G 16: 35,466,756 (GRCm39) Y219* probably null Het
Slc35f3 G T 8: 127,047,819 (GRCm39) R53L probably benign Het
Slc44a5 T C 3: 153,964,029 (GRCm39) V465A possibly damaging Het
Slf1 A T 13: 77,254,206 (GRCm39) D204E possibly damaging Het
Sox5 T A 6: 144,155,088 (GRCm39) T3S probably damaging Het
Srr G A 11: 74,803,838 (GRCm39) R40C possibly damaging Het
Tas2r115 T A 6: 132,714,501 (GRCm39) H150L possibly damaging Het
Tet2 A G 3: 133,192,401 (GRCm39) S678P probably benign Het
Tmem11 T C 11: 60,755,684 (GRCm39) K183E probably damaging Het
Upf1 T C 8: 70,787,412 (GRCm39) probably null Het
Xpo6 A T 7: 125,748,674 (GRCm39) probably benign Het
Zfp638 C T 6: 83,954,047 (GRCm39) S1384L probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably 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
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'- TGAATCAGTTCCGGCTGGTC -3'
(R):5'- CAGTGGCTTGATGGTCAAAC -3'

Sequencing Primer
(F):5'- TCCCTCTGGACAAGATTGACC -3'
(R):5'- TTGATGGTCAAACCCTACGG -3'
Posted On 2017-02-10