Incidental Mutation 'R6102:Slc9a9'
ID 485316
Institutional Source Beutler Lab
Gene Symbol Slc9a9
Ensembl Gene ENSMUSG00000031129
Gene Name solute carrier family 9 (sodium/hydrogen exchanger), member 9
Synonyms 5730527A11Rik, Nhe9
MMRRC Submission 044252-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6102 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 94551962-95112498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94818482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 292 (Y292C)
Ref Sequence ENSEMBL: ENSMUSP00000033463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033463]
AlphaFold Q8BZ00
Predicted Effect probably benign
Transcript: ENSMUST00000033463
AA Change: Y292C

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000033463
Gene: ENSMUSG00000031129
AA Change: Y292C

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 0.1252 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 97% (65/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e A G 11: 70,210,849 (GRCm39) I290T possibly damaging Het
Apeh T A 9: 107,963,638 (GRCm39) D559V probably damaging Het
Aspm T A 1: 139,405,197 (GRCm39) Y1361* probably null Het
Atad5 G T 11: 80,002,398 (GRCm39) probably null Het
Ccr4 C T 9: 114,325,561 (GRCm39) probably null Het
Clasrp G A 7: 19,320,393 (GRCm39) probably benign Het
Cldn23 A G 8: 36,292,705 (GRCm39) M261T probably benign Het
Cmya5 T C 13: 93,230,739 (GRCm39) M1450V probably benign Het
Cyp4v3 T A 8: 45,773,197 (GRCm39) E202V probably damaging Het
Dnah7a A T 1: 53,598,299 (GRCm39) V1412E probably benign Het
Dnah9 A G 11: 65,881,342 (GRCm39) S2578P probably damaging Het
Dsc2 T A 18: 20,180,165 (GRCm39) Y196F probably benign Het
Exoc1 T C 5: 76,685,626 (GRCm39) S113P probably damaging Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Frs3 C T 17: 48,013,596 (GRCm39) H173Y probably damaging Het
Ginm1 G T 10: 7,644,260 (GRCm39) T323K probably benign Het
Golgb1 T C 16: 36,733,227 (GRCm39) S825P probably damaging Het
Hs3st3b1 A T 11: 63,812,681 (GRCm39) C11* probably null Het
Ighv3-3 G C 12: 114,160,080 (GRCm39) A110G possibly damaging Het
Igkv6-20 G A 6: 70,312,853 (GRCm39) H107Y probably benign Het
Kcnj16 A G 11: 110,916,403 (GRCm39) E355G probably benign Het
Lig4 C T 8: 10,022,872 (GRCm39) G303S probably damaging Het
Map1b A C 13: 99,562,381 (GRCm39) V2443G unknown Het
Map3k6 T C 4: 132,974,442 (GRCm39) probably null Het
Mmp13 A G 9: 7,276,688 (GRCm39) Q261R probably benign Het
Mphosph9 T A 5: 124,435,772 (GRCm39) I554F possibly damaging Het
Mrgpra3 A T 7: 47,239,897 (GRCm39) F10I possibly damaging Het
Ms4a18 G A 19: 10,990,887 (GRCm39) T69I probably benign Het
Mtmr3 T C 11: 4,437,673 (GRCm39) N927S probably damaging Het
Necab1 T A 4: 14,989,211 (GRCm39) Q188L probably benign Het
Nfatc2 A G 2: 168,361,427 (GRCm39) probably benign Het
Or5i1 T C 2: 87,613,192 (GRCm39) F103L probably damaging Het
Or5p70 T C 7: 107,994,491 (GRCm39) S55P probably damaging Het
Or7g34 T C 9: 19,478,318 (GRCm39) M121V possibly damaging Het
Paip2b A C 6: 83,785,828 (GRCm39) V134G possibly damaging Het
Pax3 T C 1: 78,108,984 (GRCm39) T225A probably damaging Het
Pbx1 C A 1: 168,011,134 (GRCm39) A298S probably benign Het
Pcdhac2 A T 18: 37,279,335 (GRCm39) K772* probably null Het
Pcsk4 A T 10: 80,161,651 (GRCm39) Y163* probably null Het
Plcd3 A G 11: 102,971,470 (GRCm39) V58A probably damaging Het
Plek2 T A 12: 78,946,867 (GRCm39) T57S possibly damaging Het
Plscr2 C T 9: 92,169,721 (GRCm39) T57I probably benign Het
Ppp2r5b A G 19: 6,284,768 (GRCm39) S32P probably benign Het
Ppp3r2 C T 4: 49,682,022 (GRCm39) probably benign Het
Psme4 T A 11: 30,815,567 (GRCm39) L1693H probably damaging Het
Rrbp1 T A 2: 143,830,313 (GRCm39) Q618L probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Serpina3b A T 12: 104,100,428 (GRCm39) T337S probably benign Het
Slc18a2 T C 19: 59,282,310 (GRCm39) Y506H probably benign Het
Spta1 T C 1: 174,052,086 (GRCm39) V1840A probably benign Het
Ssb T C 2: 69,701,552 (GRCm39) *416Q probably null Het
Strada A G 11: 106,059,262 (GRCm39) V209A probably benign Het
Tbc1d31 A T 15: 57,799,489 (GRCm39) D225V probably damaging Het
Tgm4 T C 9: 122,885,600 (GRCm39) F381L probably benign Het
Tmem120b T A 5: 123,253,207 (GRCm39) Y203N probably damaging Het
Tmem176b A G 6: 48,812,868 (GRCm39) V109A probably benign Het
Tnfrsf11a C A 1: 105,747,671 (GRCm39) L201M possibly damaging Het
Ttn C A 2: 76,804,694 (GRCm39) probably null Het
Tubb2a T C 13: 34,259,326 (GRCm39) I155V probably benign Het
Vmn1r5 A G 6: 56,963,099 (GRCm39) D258G probably damaging Het
Vmn2r121 T C X: 123,043,272 (GRCm39) T120A probably benign Het
Vmn2r19 A T 6: 123,306,907 (GRCm39) I472F probably damaging Het
Vwa3a A G 7: 120,375,361 (GRCm39) probably null Het
Zfp273 A G 13: 67,970,466 (GRCm39) Y5C probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp825 A G 13: 74,628,772 (GRCm39) L248P probably damaging 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
IGL01715:Slc9a9 APN 9 94,842,499 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GGTTTATCTCACCAGCACCC -3'
(R):5'- ACTGATCCAGTGCCTCATGG -3'

Sequencing Primer
(F):5'- CAGCCTCATTGGAAAGTGTGC -3'
(R):5'- ATCCAGTGCCTCATGGGATCAC -3'
Posted On 2017-08-16