Incidental Mutation 'R8412:Slc9a9'
ID 652750
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 067816-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8412 (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 C at 95111092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 637 (T637P)
Ref Sequence ENSEMBL: ENSMUSP00000033463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033463]
AlphaFold Q8BZ00
Predicted Effect probably damaging
Transcript: ENSMUST00000033463
AA Change: T637P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033463
Gene: ENSMUSG00000031129
AA Change: T637P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik T A 1: 183,765,356 (GRCm39) R234S probably damaging Het
Ace T A 11: 105,870,092 (GRCm39) F806Y probably benign Het
Ak8 A G 2: 28,629,643 (GRCm39) T286A probably benign Het
Apba2 T A 7: 64,395,546 (GRCm39) F674Y probably damaging Het
Apob A G 12: 8,058,069 (GRCm39) I2184V probably benign Het
Arhgap23 C T 11: 97,356,854 (GRCm39) P884L probably benign Het
Atg2a T C 19: 6,294,554 (GRCm39) L90P probably damaging Het
Bhmt2 T A 13: 93,798,820 (GRCm39) I334F possibly damaging Het
Bmi1 C T 2: 18,689,114 (GRCm39) T266I probably damaging Het
Cdh26 A G 2: 178,104,517 (GRCm39) I301V probably damaging Het
Cenpx A T 11: 120,602,558 (GRCm39) H68Q unknown Het
Cnot10 T C 9: 114,439,738 (GRCm39) R524G probably benign Het
Cnpy1 A T 5: 28,414,206 (GRCm39) Y22* probably null Het
Csmd3 C T 15: 47,499,794 (GRCm39) R2114H Het
Defa29 T A 8: 21,816,062 (GRCm39) T102S probably benign Het
Fras1 T C 5: 96,744,711 (GRCm39) I582T probably benign Het
Gm14295 G A 2: 176,501,422 (GRCm39) C304Y probably damaging Het
Gucy2d T C 7: 98,093,046 (GRCm39) V141A possibly damaging Het
Ifi47 A C 11: 48,986,425 (GRCm39) Q64P probably damaging Het
Irx3 G T 8: 92,527,028 (GRCm39) S225R possibly damaging Het
Itpr1 A G 6: 108,340,581 (GRCm39) H289R probably benign Het
Lamc3 A G 2: 31,802,128 (GRCm39) D512G probably damaging Het
Mcm3 C T 1: 20,886,980 (GRCm39) V142I probably benign Het
Med23 C A 10: 24,784,632 (GRCm39) F1200L probably benign Het
Ndst4 A T 3: 125,364,439 (GRCm39) D372V possibly damaging Het
Nob1 T A 8: 108,148,230 (GRCm39) K71* probably null Het
Ntrk3 A G 7: 78,005,897 (GRCm39) I488T probably benign Het
Pds5b G T 5: 150,643,424 (GRCm39) C82F probably damaging Het
Pkd1l3 T A 8: 110,360,022 (GRCm39) V969E possibly damaging Het
Ppme1 A T 7: 99,984,298 (GRCm39) N307K probably benign Het
Pus7l C T 15: 94,425,856 (GRCm39) C515Y probably benign Het
Rpp21 T A 17: 36,568,591 (GRCm39) H22L possibly damaging Het
Scamp3 T C 3: 89,088,525 (GRCm39) F244L probably damaging Het
Scgb1b7 A T 7: 31,412,379 (GRCm39) K52* probably null Het
Slc12a3 T C 8: 95,060,695 (GRCm39) I261T probably damaging Het
Slc19a3 C T 1: 82,992,533 (GRCm39) R396H probably damaging Het
Slc22a14 T C 9: 119,009,922 (GRCm39) I58V probably benign Het
Snrnp40 T A 4: 130,278,316 (GRCm39) C274S possibly damaging Het
Sptbn1 A G 11: 30,088,457 (GRCm39) V905A probably damaging Het
Taok3 A G 5: 117,404,102 (GRCm39) D759G possibly damaging Het
Tas1r1 T C 4: 152,117,033 (GRCm39) I200M probably benign Het
Tnfrsf25 T C 4: 152,204,139 (GRCm39) V360A possibly damaging Het
Trim12a A T 7: 103,953,544 (GRCm39) M189K possibly damaging Het
Tspan32 T C 7: 142,559,695 (GRCm39) F41L probably benign Het
Tube1 T A 10: 39,021,657 (GRCm39) S301T possibly damaging Het
Usp8 T C 2: 126,584,578 (GRCm39) S596P probably benign Het
Virma T A 4: 11,521,261 (GRCm39) probably null Het
Vmn2r58 T C 7: 41,513,722 (GRCm39) D307G probably benign Het
Zeb2 T C 2: 44,888,964 (GRCm39) K327R probably damaging Het
Zfp54 C T 17: 21,654,910 (GRCm39) T468M probably benign Het
Zfp780b A T 7: 27,662,551 (GRCm39) I668N possibly 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
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
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'- TCTCTATCTGTCCTAACAAACCAGG -3'
(R):5'- ATTTCTGAAGGCACGGGAGG -3'

Sequencing Primer
(F):5'- TGACGTGGAATGTATCGTCAACC -3'
(R):5'- CGGGAGGATACATGTGATAAGGTTTG -3'
Posted On 2020-10-20