Incidental Mutation 'R5684:Slc9a9'
ID 443240
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 043178-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5684 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 94551962-95112498 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94937561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 471 (F471S)
Ref Sequence ENSEMBL: ENSMUSP00000033463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033463]
AlphaFold Q8BZ00
Predicted Effect possibly damaging
Transcript: ENSMUST00000033463
AA Change: F471S

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033463
Gene: ENSMUSG00000031129
AA Change: F471S

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
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 94.2%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik A G 5: 115,017,621 (GRCm39) D144G possibly damaging Het
AU040320 A G 4: 126,685,939 (GRCm39) T172A probably benign Het
Bspry T C 4: 62,414,519 (GRCm39) F371L possibly damaging Het
Cacna1c A G 6: 118,664,005 (GRCm39) F555L probably damaging Het
Colec12 T C 18: 9,849,009 (GRCm39) S396P probably damaging Het
Creb3l1 A G 2: 91,821,076 (GRCm39) V336A probably damaging Het
Crocc T C 4: 140,778,455 (GRCm39) N85S probably damaging Het
Dcbld2 T C 16: 58,270,172 (GRCm39) S278P possibly damaging Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Ercc4 T A 16: 12,948,465 (GRCm39) C561S probably benign Het
Gab1 T C 8: 81,496,299 (GRCm39) K637R probably damaging Het
Grm5 T C 7: 87,779,853 (GRCm39) S1130P probably benign Het
H2-M10.6 A T 17: 37,124,746 (GRCm39) N221I probably damaging Het
Htr7 C A 19: 35,947,271 (GRCm39) A248S probably damaging Het
Kcnh5 T A 12: 75,184,423 (GRCm39) K100I probably damaging Het
Mgat4f A G 1: 134,317,660 (GRCm39) D144G probably benign Het
Naip6 T A 13: 100,436,888 (GRCm39) Q545L probably damaging Het
Nkpd1 C T 7: 19,257,498 (GRCm39) Q276* probably null Het
Or13c7d T C 4: 43,770,624 (GRCm39) N129S probably benign Het
Or5p63 A T 7: 107,811,279 (GRCm39) Y152* probably null Het
Or5p64 A T 7: 107,855,246 (GRCm39) I33N possibly damaging Het
Pidd1 A T 7: 141,021,024 (GRCm39) probably null Het
Plec A G 15: 76,089,796 (GRCm39) probably null Het
Plekhh2 C T 17: 84,905,346 (GRCm39) A1080V probably damaging Het
Plppr3 A T 10: 79,701,151 (GRCm39) S564T possibly damaging Het
Ppp2ca A G 11: 52,004,154 (GRCm39) K104E probably damaging Het
Rad54l T A 4: 115,957,760 (GRCm39) K407M probably damaging Het
Sfn T A 4: 133,328,603 (GRCm39) K160* probably null Het
Slc22a15 A G 3: 101,770,271 (GRCm39) S439P probably damaging Het
Slc6a2 T A 8: 93,715,681 (GRCm39) V273D probably damaging Het
Smc3 A G 19: 53,629,235 (GRCm39) E896G probably benign Het
Sorbs3 C T 14: 70,418,671 (GRCm39) R717Q probably damaging Het
Spg11 T C 2: 121,923,984 (GRCm39) E779G probably damaging Het
Spg7 T C 8: 123,800,623 (GRCm39) V66A probably damaging Het
Trmt11 A G 10: 30,423,706 (GRCm39) S400P probably damaging Het
Trpc6 T C 9: 8,653,129 (GRCm39) V567A probably damaging Het
Vmn2r103 T G 17: 20,013,251 (GRCm39) I124S probably benign Het
Vps13a A T 19: 16,676,409 (GRCm39) M1188K probably benign Het
Vtn G A 11: 78,391,384 (GRCm39) G266S probably damaging Het
Yeats2 T C 16: 20,012,553 (GRCm39) S640P possibly damaging Het
Zc3hav1 A T 6: 38,288,214 (GRCm39) M874K 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
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
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
Predicted Primers PCR Primer
(F):5'- CTCCATGTGAATCTACAATCATCTCTG -3'
(R):5'- AGGTCACTTGGAACTTGGAAG -3'

Sequencing Primer
(F):5'- CTCTGGGTTTCTCTGGAAG -3'
(R):5'- CACTTGGAACTTGGAAGCTGGG -3'
Posted On 2016-11-09