Incidental Mutation 'R3891:Slc9a7'
ID 310421
Institutional Source Beutler Lab
Gene Symbol Slc9a7
Ensembl Gene ENSMUSG00000037341
Gene Name solute carrier family 9 (sodium/hydrogen exchanger), member 7
Synonyms A530087D17Rik, NHE7
MMRRC Submission 040803-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R3891 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 19971993-20158046 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20052352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 247 (F247S)
Ref Sequence ENSEMBL: ENSMUSP00000111051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072451] [ENSMUST00000115393]
AlphaFold Q8BLV3
Predicted Effect probably damaging
Transcript: ENSMUST00000072451
AA Change: F247S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000072274
Gene: ENSMUSG00000037341
AA Change: F247S

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:Na_H_Exchanger 77 535 2e-94 PFAM
low complexity region 563 573 N/A INTRINSIC
low complexity region 676 685 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115393
AA Change: F247S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111051
Gene: ENSMUSG00000037341
AA Change: F247S

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:Na_H_Exchanger 77 535 8.6e-88 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130938
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151845
Meta Mutation Damage Score 0.8656 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium and potassium/ proton antiporter that is a member of the solute carrier family 9 protein family. The encoded protein is primarily localized to the trans-Golgi network and is involved in maintaining pH homeostasis in organelles along the secretory and endocytic pathways. This protein may enhance cell growth of certain breast tumors. This gene is part of a gene cluster on chromosome Xp11.23. A pseudogene of this gene is found on chromosome 12. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 A G 4: 128,655,847 (GRCm39) T72A probably damaging Het
Ascc3 T A 10: 50,718,289 (GRCm39) I1994N probably damaging Het
C1qb A T 4: 136,607,727 (GRCm39) V212E probably damaging Het
Cfap54 T A 10: 92,874,708 (GRCm39) I563F possibly damaging Het
Clip2 T C 5: 134,551,847 (GRCm39) K92E probably damaging Het
Clrn3 T C 7: 135,120,194 (GRCm39) T131A possibly damaging Het
Col9a1 T C 1: 24,224,517 (GRCm39) probably null Het
Def8 T C 8: 124,185,083 (GRCm39) probably benign Het
Diaph1 C A 18: 38,033,691 (GRCm39) probably benign Het
Dmrta1 A T 4: 89,579,831 (GRCm39) I264F possibly damaging Het
Dscaml1 A T 9: 45,628,782 (GRCm39) D1112V possibly damaging Het
Ehbp1l1 A G 19: 5,768,340 (GRCm39) S988P possibly damaging Het
Gabrr2 A G 4: 33,081,348 (GRCm39) Y4C probably damaging Het
Gm10088 T C 16: 18,847,001 (GRCm39) noncoding transcript Het
Gm5616 A G 9: 48,361,809 (GRCm39) noncoding transcript Het
H2-T24 T A 17: 36,326,330 (GRCm39) I190F possibly damaging Het
Hmcn1 A T 1: 150,510,946 (GRCm39) D3592E probably damaging Het
Il1rap A G 16: 26,495,606 (GRCm39) Y71C probably damaging Het
Krt1 T A 15: 101,758,847 (GRCm39) S106C unknown Het
Lsamp T C 16: 39,805,054 (GRCm39) V11A probably benign Het
Mob1b T A 5: 88,901,061 (GRCm39) I156K probably damaging Het
Naip2 T A 13: 100,297,606 (GRCm39) E810V probably damaging Het
Nfe2l1 A G 11: 96,710,823 (GRCm39) S181P possibly damaging Het
Nos1ap T C 1: 170,177,025 (GRCm39) Y126C probably damaging Het
Nuak2 G T 1: 132,259,223 (GRCm39) A342S possibly damaging Het
Or10ah1-ps1 G T 5: 143,123,152 (GRCm39) S290R probably benign Het
Or2aj5 A G 16: 19,425,205 (GRCm39) I71T probably damaging Het
Or2t1 T A 14: 14,328,114 (GRCm38) M1K probably null Het
Pcdhb16 A T 18: 37,612,422 (GRCm39) I461F probably benign Het
Pcdhga10 A C 18: 37,882,534 (GRCm39) H765P probably benign Het
Pex2 C T 3: 5,626,008 (GRCm39) C267Y probably damaging Het
Pgghg T C 7: 140,525,616 (GRCm39) I473T probably damaging Het
Polr2e G T 10: 79,873,213 (GRCm39) P80T probably benign Het
Pum1 T C 4: 130,491,393 (GRCm39) L774P probably damaging Het
Rasef A G 4: 73,698,634 (GRCm39) V9A probably benign Het
Rpl13 A G 8: 123,831,907 (GRCm39) E201G probably damaging Het
Skint2 A G 4: 112,481,383 (GRCm39) E82G probably damaging Het
Skor2 A G 18: 76,946,350 (GRCm39) D24G unknown Het
Slc19a3 A T 1: 83,000,678 (GRCm39) F113Y probably damaging Het
Slc29a3 T A 10: 60,552,040 (GRCm39) K335* probably null Het
Slc30a6 T A 17: 74,726,541 (GRCm39) D282E probably benign Het
Slx4 A T 16: 3,797,773 (GRCm39) I1537N probably damaging Het
Specc1 C T 11: 62,042,739 (GRCm39) T872M probably benign Het
Stard10 G A 7: 100,993,137 (GRCm39) R231Q possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tesl1 A G X: 23,773,180 (GRCm39) Y227C probably damaging Het
Vwa1 T C 4: 155,857,651 (GRCm39) E49G probably damaging Het
Zc3h12a A G 4: 125,020,678 (GRCm39) F55S probably damaging Het
Zmym4 A G 4: 126,798,269 (GRCm39) I786T probably benign Het
Other mutations in Slc9a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Slc9a7 APN X 20,005,158 (GRCm39) missense probably damaging 1.00
IGL00743:Slc9a7 APN X 19,972,260 (GRCm39) missense possibly damaging 0.81
IGL02377:Slc9a7 APN X 20,068,963 (GRCm39) missense probably damaging 1.00
IGL02960:Slc9a7 APN X 20,052,382 (GRCm39) missense probably benign 0.17
IGL03029:Slc9a7 APN X 20,157,608 (GRCm39) missense probably benign 0.00
R0539:Slc9a7 UTSW X 20,069,001 (GRCm39) missense probably damaging 1.00
R0648:Slc9a7 UTSW X 20,028,659 (GRCm39) unclassified probably benign
R1750:Slc9a7 UTSW X 20,028,717 (GRCm39) missense probably damaging 0.97
R4067:Slc9a7 UTSW X 20,071,793 (GRCm39) missense probably damaging 1.00
X0018:Slc9a7 UTSW X 20,157,879 (GRCm39) missense probably benign
Z1176:Slc9a7 UTSW X 20,157,978 (GRCm39) start gained probably benign
Z1176:Slc9a7 UTSW X 20,052,298 (GRCm39) critical splice donor site probably null
Z1177:Slc9a7 UTSW X 20,157,827 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAAGCCTAAGTCTGTTAAGTCTAAC -3'
(R):5'- TGCCTAGGTTCCTAGTAAGTGTC -3'

Sequencing Primer
(F):5'- AAGTCTAACTACTATTGCATTCCTCC -3'
(R):5'- CTAGGTTCCTAGTAAGTGTCCAATC -3'
Posted On 2015-04-17