Incidental Mutation 'IGL01434:Slc9a9'
ID84263
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc9a9
Ensembl Gene ENSMUSG00000031129
Gene Namesolute carrier family 9 (sodium/hydrogen exchanger), member 9
Synonyms5730527A11Rik, Nhe9
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01434
Quality Score
Status
Chromosome9
Chromosomal Location94669909-95230445 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 95019194 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 393 (N393K)
Ref Sequence ENSEMBL: ENSMUSP00000033463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033463]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033463
AA Change: N393K

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000033463
Gene: ENSMUSG00000031129
AA Change: N393K

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
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A G 7: 119,781,074 probably benign Het
Adcy7 A G 8: 88,324,844 N864S probably damaging Het
Anapc7 A G 5: 122,438,216 D302G probably benign Het
Atm A T 9: 53,507,807 C782S probably benign Het
Bicdl1 G A 5: 115,670,156 Q37* probably null Het
Cabin1 T C 10: 75,725,586 D1027G possibly damaging Het
Cbl T C 9: 44,164,206 I364V probably damaging Het
Ccer1 T C 10: 97,693,597 S41P unknown Het
Cenpf G A 1: 189,657,868 Q1256* probably null Het
Copa T A 1: 172,119,561 I1093N probably benign Het
Cped1 C T 6: 22,017,005 L118F probably damaging Het
Dner T C 1: 84,384,010 H626R probably benign Het
Ears2 G A 7: 122,063,088 probably benign Het
Eif3c A G 7: 126,556,410 I562T probably damaging Het
Eml6 T C 11: 29,819,090 Y685C probably damaging Het
Fam71f1 T C 6: 29,320,701 V108A probably damaging Het
Gm5483 T A 16: 36,186,407 V37E probably benign Het
Gpt A G 15: 76,698,782 K321E probably damaging Het
Hspd1 C T 1: 55,081,126 G306R probably damaging Het
Kmt2c T C 5: 25,409,308 Y138C probably damaging Het
Lhcgr A G 17: 88,742,437 Y554H probably damaging Het
Nell1 A T 7: 50,701,208 K534N probably benign Het
Nob1 A G 8: 107,424,728 probably benign Het
Olfr45 G A 7: 140,691,618 A238T probably damaging Het
Phf12 C T 11: 78,023,559 P60L probably damaging Het
Prkdc A G 16: 15,713,587 E1358G probably benign Het
Rimbp3 A G 16: 17,211,702 T997A probably benign Het
Rsg1 T C 4: 141,218,653 V169A probably benign Het
Sohlh2 T C 3: 55,195,161 S206P probably damaging Het
Stard10 G A 7: 101,321,980 V125M probably benign Het
Tff2 G T 17: 31,143,266 probably null Het
Tha1 T C 11: 117,868,599 T355A probably benign Het
Tmem120a G T 5: 135,737,010 F127L possibly damaging Het
Tmem41b A G 7: 109,978,702 probably benign Het
Tonsl T C 15: 76,631,102 D1028G probably benign Het
Other mutations in Slc9a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01301:Slc9a9 APN 9 95055459 missense probably benign 0.03
IGL01394:Slc9a9 APN 9 95123037 missense probably benign
IGL01715:Slc9a9 APN 9 94960446 missense probably damaging 1.00
IGL01821:Slc9a9 APN 9 95228950 missense probably benign
IGL02963:Slc9a9 APN 9 95020714 critical splice donor site probably null
IGL03211:Slc9a9 APN 9 95137990 splice site probably benign
ANU18:Slc9a9 UTSW 9 95055459 missense probably benign 0.03
R0306:Slc9a9 UTSW 9 95137934 missense probably benign
R0382:Slc9a9 UTSW 9 94685217 missense probably benign 0.18
R0388:Slc9a9 UTSW 9 94939563 critical splice donor site probably null
R1509:Slc9a9 UTSW 9 95228958 missense probably benign
R1785:Slc9a9 UTSW 9 95019193 missense possibly damaging 0.95
R4018:Slc9a9 UTSW 9 94685163 missense probably benign 0.03
R4167:Slc9a9 UTSW 9 95228899 missense probably damaging 0.98
R4170:Slc9a9 UTSW 9 95228899 missense probably damaging 0.98
R4695:Slc9a9 UTSW 9 94936449 critical splice donor site probably benign
R5400:Slc9a9 UTSW 9 94712901 missense probably damaging 1.00
R5609:Slc9a9 UTSW 9 94809937 missense probably damaging 1.00
R5684:Slc9a9 UTSW 9 95055508 missense possibly damaging 0.89
R6015:Slc9a9 UTSW 9 94939549 missense probably benign 0.29
R6102:Slc9a9 UTSW 9 94936429 missense probably benign 0.03
R6317:Slc9a9 UTSW 9 94939459 missense possibly damaging 0.51
R6398:Slc9a9 UTSW 9 94670227 missense probably benign 0.00
R6476:Slc9a9 UTSW 9 94685138 missense probably benign 0.00
R6501:Slc9a9 UTSW 9 94936371 missense probably benign 0.01
R6603:Slc9a9 UTSW 9 94939546 missense probably damaging 0.98
R6611:Slc9a9 UTSW 9 94939478 missense probably benign 0.18
R6700:Slc9a9 UTSW 9 94936311 missense possibly damaging 0.66
R6824:Slc9a9 UTSW 9 95227198 missense probably damaging 1.00
R6931:Slc9a9 UTSW 9 94670086 missense possibly damaging 0.73
R6975:Slc9a9 UTSW 9 94960446 missense probably damaging 1.00
R6987:Slc9a9 UTSW 9 94669990 start gained probably benign
R7325:Slc9a9 UTSW 9 94712898 missense probably benign 0.24
R7374:Slc9a9 UTSW 9 95055489 missense possibly damaging 0.90
R7437:Slc9a9 UTSW 9 95228941 missense probably benign 0.00
R7614:Slc9a9 UTSW 9 94855739 missense probably damaging 1.00
R8412:Slc9a9 UTSW 9 95229039 missense probably damaging 1.00
R8501:Slc9a9 UTSW 9 94855739 missense probably damaging 1.00
R8514:Slc9a9 UTSW 9 94936365 missense probably benign 0.01
X0010:Slc9a9 UTSW 9 94685208 missense possibly damaging 0.46
Posted On2013-11-11