Incidental Mutation 'R6398:Slc9a9'
ID 516069
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 044381-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6398 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 94551962-95112498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94552280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 56 (M56L)
Ref Sequence ENSEMBL: ENSMUSP00000033463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033463]
AlphaFold Q8BZ00
Predicted Effect probably benign
Transcript: ENSMUST00000033463
AA Change: M56L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000033463
Gene: ENSMUSG00000031129
AA Change: M56L

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: ENSMUST00000162870
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188551
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 T A 4: 126,342,601 (GRCm39) Q514L probably benign Het
Alpi G C 1: 87,027,184 (GRCm39) T365S probably damaging Het
Cbx4 A T 11: 118,971,908 (GRCm39) V489E probably damaging Het
Ccdc162 T C 10: 41,503,145 (GRCm39) D999G probably damaging Het
Clspn A G 4: 126,457,740 (GRCm39) E88G probably damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Ddx1 A T 12: 13,295,721 (GRCm39) I33N probably damaging Het
Diaph3 G A 14: 87,103,922 (GRCm39) L821F probably damaging Het
Duox2 C T 2: 122,126,851 (GRCm39) M221I probably benign Het
Gm15130 A T 2: 110,965,787 (GRCm39) M154K unknown Het
Gm3233 G T 10: 77,595,249 (GRCm39) probably benign Het
Heg1 A C 16: 33,587,145 (GRCm39) I1327L probably damaging Het
Ifnar1 G A 16: 91,302,303 (GRCm39) probably null Het
Itpr1 C T 6: 108,482,864 (GRCm39) L2310F probably damaging Het
Or5b98 T C 19: 12,931,681 (GRCm39) S243P probably damaging Het
Pcdhb7 A G 18: 37,476,487 (GRCm39) N541S possibly damaging Het
Prelp A G 1: 133,842,479 (GRCm39) L222P probably damaging Het
Prl8a8 A G 13: 27,692,412 (GRCm39) I193T probably damaging Het
Prpf4b G T 13: 35,084,354 (GRCm39) R914L probably damaging Het
Ptbp2 G C 3: 119,514,484 (GRCm39) Q448E probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Slfn4 A G 11: 83,078,000 (GRCm39) I263V possibly damaging Het
Taar2 A G 10: 23,817,177 (GRCm39) N239S probably benign Het
Trrap T A 5: 144,727,680 (GRCm39) I467N possibly damaging Het
Ttc28 T C 5: 111,424,142 (GRCm39) Y1439H probably damaging Het
Usp34 A G 11: 23,438,666 (GRCm39) I3409M probably benign Het
Zbbx G T 3: 74,985,872 (GRCm39) N388K probably damaging Het
Znhit2 A G 19: 6,112,287 (GRCm39) N344S 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
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
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'- TTCTCTGAGCATCACAGTCGG -3'
(R):5'- CTCTGTGGTCAGGCGGAATTTC -3'

Sequencing Primer
(F):5'- TGAGCATCACAGTCGGTCGAG -3'
(R):5'- TCTGCCGCTCCTCTGGAAAG -3'
Posted On 2018-05-04