Incidental Mutation 'IGL01394:Slc9a9'
ID79351
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 #IGL01394
Quality Score
Status
Chromosome9
Chromosomal Location94669909-95230445 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 95123037 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 499 (L499Q)
Ref Sequence ENSEMBL: ENSMUSP00000033463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033463]
Predicted Effect probably benign
Transcript: ENSMUST00000033463
AA Change: L499Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033463
Gene: ENSMUSG00000031129
AA Change: L499Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162329
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik G A 7: 131,146,231 Q11* probably null Het
Acot5 T C 12: 84,075,488 I282T probably benign Het
Adcy2 A G 13: 68,982,402 V122A probably damaging Het
Aldh16a1 A C 7: 45,145,513 S511A probably benign Het
Arid3b T C 9: 57,795,034 E480G probably damaging Het
Baz2a T C 10: 128,118,645 V723A possibly damaging Het
Bmpr1b A G 3: 141,862,981 probably null Het
Ccdc83 T C 7: 90,224,001 E382G probably damaging Het
Cfap46 A G 7: 139,666,979 Y349H probably damaging Het
Clpx T C 9: 65,310,213 V21A probably damaging Het
Clstn1 A G 4: 149,634,782 N356S possibly damaging Het
Ctnnd1 A G 2: 84,605,256 probably benign Het
Dock1 A G 7: 134,766,216 N505S probably benign Het
Eaf2 G A 16: 36,810,566 P82S probably damaging Het
Fbxw26 T C 9: 109,717,989 Y456C probably benign Het
Foxred2 T C 15: 77,955,620 T157A probably benign Het
Fscb A T 12: 64,473,804 I296K possibly damaging Het
Gad1-ps A G 10: 99,445,562 noncoding transcript Het
Golgb1 A G 16: 36,931,564 E3120G probably damaging Het
Ift140 A G 17: 25,094,702 D1369G probably benign Het
Kcnk13 T C 12: 100,061,662 V332A probably benign Het
Lama3 T A 18: 12,531,926 D661E probably null Het
Lum A T 10: 97,568,972 D243V probably damaging Het
Mgat4c A G 10: 102,385,114 T86A possibly damaging Het
Mpdz A T 4: 81,292,491 V1706D possibly damaging Het
Myrfl T C 10: 116,822,687 Q455R probably benign Het
Olfr420 T C 1: 174,158,857 F28S probably damaging Het
Olfr898 T A 9: 38,349,805 S241T possibly damaging Het
Papolg G A 11: 23,867,235 T654I probably benign Het
Pappa2 G A 1: 158,765,104 probably benign Het
Plekhh2 C T 17: 84,557,430 T82I probably benign Het
Prrc2a A G 17: 35,153,104 V1773A probably benign Het
Psmb8 G T 17: 34,200,729 V186L probably damaging Het
Rin3 T C 12: 102,373,603 V604A probably damaging Het
Rtn1 T C 12: 72,308,416 D252G probably benign Het
Sdk1 C T 5: 141,613,215 H212Y probably benign Het
Slc5a5 G T 8: 70,889,388 Y307* probably null Het
Snx8 C A 5: 140,352,179 G237V probably benign Het
Spata18 T A 5: 73,679,345 probably null Het
Stard9 A G 2: 120,706,327 E417G possibly damaging Het
Ubr5 T C 15: 38,009,631 D1034G possibly damaging Het
Upf2 A G 2: 6,040,213 probably null Het
Xrcc6 A G 15: 82,025,661 K89R possibly damaging Het
Yeats2 T C 16: 20,162,032 V237A probably damaging Het
Zdhhc6 A G 19: 55,309,892 W178R probably benign Het
Zfp280b C A 10: 76,039,663 Q459K probably damaging Het
Zfp811 C A 17: 32,797,820 K414N probably damaging Het
Other mutations in Slc9a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01301:Slc9a9 APN 9 95055459 missense probably benign 0.03
IGL01434:Slc9a9 APN 9 95019194 missense possibly damaging 0.49
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 On2013-11-05