Incidental Mutation 'IGL01715:Slc9a9'
ID 104907
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc9a9
Ensembl Gene ENSMUSG00000031129
Gene Name solute carrier family 9 (sodium/hydrogen exchanger), member 9
Synonyms 5730527A11Rik, Nhe9
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01715
Quality Score
Status
Chromosome 9
Chromosomal Location 94551962-95112498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94842499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 350 (Y350C)
Ref Sequence ENSEMBL: ENSMUSP00000033463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033463]
AlphaFold Q8BZ00
Predicted Effect probably damaging
Transcript: ENSMUST00000033463
AA Change: Y350C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033463
Gene: ENSMUSG00000031129
AA Change: Y350C

DomainStartEndE-ValueType
Pfam:Na_H_Exchanger 28 486 2.6e-89 PFAM
low complexity region 594 600 N/A INTRINSIC
low complexity region 621 635 N/A INTRINSIC
Meta Mutation Damage Score 0.6223 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in maintaining cation homeostasis. Mutations in this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity disorder. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A G 15: 11,258,182 (GRCm39) N498D possibly damaging Het
Ap5s1 T C 2: 131,053,293 (GRCm39) S26P probably damaging Het
Apaf1 T C 10: 90,894,216 (GRCm39) Y473C probably benign Het
Cdc42ep4 C T 11: 113,620,268 (GRCm39) G41D probably damaging Het
Ddx42 T A 11: 106,115,101 (GRCm39) Y60N probably damaging Het
Dpy19l1 C T 9: 24,396,365 (GRCm39) R117Q probably damaging Het
Drd3 T A 16: 43,641,631 (GRCm39) L316M probably damaging Het
Hadha C T 5: 30,325,082 (GRCm39) G703R probably damaging Het
Lrrc74a A C 12: 86,801,189 (GRCm39) M347L probably benign Het
Macf1 G T 4: 123,284,879 (GRCm39) Q4208K probably damaging Het
Myh15 C T 16: 48,877,847 (GRCm39) probably benign Het
Ndufa7 A T 17: 34,057,122 (GRCm39) M101L probably benign Het
Pla2g6 A G 15: 79,202,057 (GRCm39) V38A probably benign Het
Sar1a A G 10: 61,521,406 (GRCm39) probably benign Het
Sdc3 A G 4: 130,546,378 (GRCm39) T246A probably damaging Het
Sds C T 5: 120,617,272 (GRCm39) R43* probably null Het
Strc T A 2: 121,196,218 (GRCm39) probably null Het
Tln1 A G 4: 43,555,890 (GRCm39) V108A probably damaging Het
Vmn2r111 G T 17: 22,788,054 (GRCm39) probably benign Het
Wnk1 G A 6: 119,925,358 (GRCm39) P1369S probably damaging Het
Zfhx4 T A 3: 5,307,105 (GRCm39) D110E probably benign Het
Zfp462 A G 4: 55,008,586 (GRCm39) Y184C probably benign Het
Other mutations in Slc9a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01301:Slc9a9 APN 9 94,937,512 (GRCm39) missense probably benign 0.03
IGL01394:Slc9a9 APN 9 95,005,090 (GRCm39) missense probably benign
IGL01434:Slc9a9 APN 9 94,901,247 (GRCm39) missense possibly damaging 0.49
IGL01821:Slc9a9 APN 9 95,111,003 (GRCm39) missense probably benign
IGL02963:Slc9a9 APN 9 94,902,767 (GRCm39) critical splice donor site probably null
IGL03211:Slc9a9 APN 9 95,020,043 (GRCm39) splice site probably benign
ANU18:Slc9a9 UTSW 9 94,937,512 (GRCm39) missense probably benign 0.03
R0306:Slc9a9 UTSW 9 95,019,987 (GRCm39) missense probably benign
R0382:Slc9a9 UTSW 9 94,567,270 (GRCm39) missense probably benign 0.18
R0388:Slc9a9 UTSW 9 94,821,616 (GRCm39) critical splice donor site probably null
R1509:Slc9a9 UTSW 9 95,111,011 (GRCm39) missense probably benign
R1785:Slc9a9 UTSW 9 94,901,246 (GRCm39) missense possibly damaging 0.95
R4018:Slc9a9 UTSW 9 94,567,216 (GRCm39) missense probably benign 0.03
R4167:Slc9a9 UTSW 9 95,110,952 (GRCm39) missense probably damaging 0.98
R4170:Slc9a9 UTSW 9 95,110,952 (GRCm39) missense probably damaging 0.98
R4695:Slc9a9 UTSW 9 94,818,502 (GRCm39) critical splice donor site probably benign
R5400:Slc9a9 UTSW 9 94,594,954 (GRCm39) missense probably damaging 1.00
R5609:Slc9a9 UTSW 9 94,691,990 (GRCm39) missense probably damaging 1.00
R5684:Slc9a9 UTSW 9 94,937,561 (GRCm39) missense possibly damaging 0.89
R6015:Slc9a9 UTSW 9 94,821,602 (GRCm39) missense probably benign 0.29
R6102:Slc9a9 UTSW 9 94,818,482 (GRCm39) missense probably benign 0.03
R6317:Slc9a9 UTSW 9 94,821,512 (GRCm39) missense possibly damaging 0.51
R6398:Slc9a9 UTSW 9 94,552,280 (GRCm39) missense probably benign 0.00
R6476:Slc9a9 UTSW 9 94,567,191 (GRCm39) missense probably benign 0.00
R6501:Slc9a9 UTSW 9 94,818,424 (GRCm39) missense probably benign 0.01
R6603:Slc9a9 UTSW 9 94,821,599 (GRCm39) missense probably damaging 0.98
R6611:Slc9a9 UTSW 9 94,821,531 (GRCm39) missense probably benign 0.18
R6700:Slc9a9 UTSW 9 94,818,364 (GRCm39) missense possibly damaging 0.66
R6824:Slc9a9 UTSW 9 95,109,251 (GRCm39) missense probably damaging 1.00
R6931:Slc9a9 UTSW 9 94,552,139 (GRCm39) missense possibly damaging 0.73
R6975:Slc9a9 UTSW 9 94,842,499 (GRCm39) missense probably damaging 1.00
R6987:Slc9a9 UTSW 9 94,552,043 (GRCm39) start gained probably benign
R7325:Slc9a9 UTSW 9 94,594,951 (GRCm39) missense probably benign 0.24
R7374:Slc9a9 UTSW 9 94,937,542 (GRCm39) missense possibly damaging 0.90
R7437:Slc9a9 UTSW 9 95,110,994 (GRCm39) missense probably benign 0.00
R7614:Slc9a9 UTSW 9 94,737,792 (GRCm39) missense probably damaging 1.00
R8412:Slc9a9 UTSW 9 95,111,092 (GRCm39) missense probably damaging 1.00
R8501:Slc9a9 UTSW 9 94,737,792 (GRCm39) missense probably damaging 1.00
R8514:Slc9a9 UTSW 9 94,818,418 (GRCm39) missense probably benign 0.01
R9011:Slc9a9 UTSW 9 94,818,493 (GRCm39) missense probably benign 0.01
R9168:Slc9a9 UTSW 9 94,595,000 (GRCm39) missense probably damaging 1.00
R9683:Slc9a9 UTSW 9 94,552,235 (GRCm39) missense probably damaging 1.00
R9688:Slc9a9 UTSW 9 95,111,107 (GRCm39) missense probably benign 0.06
X0010:Slc9a9 UTSW 9 94,567,261 (GRCm39) missense possibly damaging 0.46
Posted On 2014-01-21