Incidental Mutation 'R4169:Slc9a5'
ID 320698
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 041010-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R4169 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 106075475-106096513 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106084032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 451 (T451A)
Ref Sequence ENSEMBL: ENSMUSP00000072893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073149]
AlphaFold B2RXE2
Predicted Effect possibly damaging
Transcript: ENSMUST00000073149
AA Change: T451A

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000072893
Gene: ENSMUSG00000014786
AA Change: T451A

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
Meta Mutation Damage Score 0.9003 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot7 T C 4: 152,302,250 (GRCm39) C121R probably damaging Het
Ampd1 T A 3: 103,002,157 (GRCm39) M546K probably damaging Het
Birc2 T A 9: 7,849,684 (GRCm39) D535V possibly damaging Het
Btn1a1 A G 13: 23,649,325 (GRCm39) L9P probably benign Het
Cmip A T 8: 118,183,656 (GRCm39) N743I probably damaging Het
Col4a2 C T 8: 11,479,391 (GRCm39) P758L probably benign Het
Ddx50 A T 10: 62,476,549 (GRCm39) Y241* probably null Het
Elk3 A G 10: 93,101,197 (GRCm39) probably null Het
Fbn1 T C 2: 125,205,872 (GRCm39) T1042A possibly damaging Het
Gm5445 A G 13: 12,393,527 (GRCm39) noncoding transcript Het
Gnat3 T C 5: 18,208,862 (GRCm39) F189L probably damaging Het
Hectd1 T C 12: 51,837,008 (GRCm39) T815A probably damaging Het
Hmcn1 A C 1: 150,471,750 (GRCm39) probably null Het
Hrc A G 7: 44,986,181 (GRCm39) D444G probably benign Het
Ighv1-53 T A 12: 115,122,166 (GRCm39) I70F possibly damaging Het
Kat7 A G 11: 95,171,298 (GRCm39) F469L probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Krt81 T A 15: 101,359,193 (GRCm39) M242L probably benign Het
Krtap6-1 A G 16: 88,828,584 (GRCm39) probably null Het
Man2c1 A G 9: 57,045,310 (GRCm39) D473G probably benign Het
Mthfr-ps1 T C 5: 78,622,436 (GRCm39) noncoding transcript Het
Nop53 A T 7: 15,676,244 (GRCm39) W152R probably benign Het
Or5p58 A T 7: 107,694,591 (GRCm39) M62K probably damaging Het
Or6y1 T A 1: 174,277,162 (GRCm39) S324R unknown Het
Or8s8 A G 15: 98,354,878 (GRCm39) E229G probably benign Het
Pcdh1 A T 18: 38,331,358 (GRCm39) N548K probably damaging Het
Pcdhga12 A G 18: 37,899,467 (GRCm39) I100V probably benign Het
Piezo2 T C 18: 63,183,675 (GRCm39) H1743R probably benign Het
Pkdrej A G 15: 85,700,515 (GRCm39) V1807A probably benign Het
Rabl2 T C 15: 89,474,582 (GRCm39) M1V probably null Het
Rexo5 A G 7: 119,426,621 (GRCm39) probably benign Het
Rfng C G 11: 120,674,772 (GRCm39) G73R probably benign Het
Rps6ka4 A G 19: 6,809,188 (GRCm39) L459P possibly damaging Het
Samd11 T A 4: 156,332,203 (GRCm39) D536V probably damaging Het
Snapc1 T A 12: 74,029,265 (GRCm39) N349K probably benign Het
Sox1ot A G 8: 12,480,544 (GRCm39) noncoding transcript Het
Tmem178 C T 17: 81,252,232 (GRCm39) H39Y possibly damaging Het
Trav8n-2 A T 14: 53,583,875 (GRCm39) T111S possibly damaging Het
Ttn T A 2: 76,703,103 (GRCm39) probably benign Het
Ttn T C 2: 76,762,909 (GRCm39) D3250G probably damaging Het
Ube2nl T A 7: 61,199,380 (GRCm39) noncoding transcript Het
Vps25 T C 11: 101,144,918 (GRCm39) S39P probably damaging Het
Zkscan14 G A 5: 145,132,985 (GRCm39) T182I 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
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'- TTGGAACACTTTGGGACAGGG -3'
(R):5'- AGTAGTGGTAGCCATGGTGC -3'

Sequencing Primer
(F):5'- CACTTTGGGACAGGGCCTTTC -3'
(R):5'- ACTGCGGCCAGAATGTG -3'
Posted On 2015-06-12