Incidental Mutation 'R4067:Slc9a7'
ID 316194
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 040853-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R4067 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 19971993-20158046 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 20071793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 113 (G113R)
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: G113R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072274
Gene: ENSMUSG00000037341
AA Change: G113R

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: G113R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111051
Gene: ENSMUSG00000037341
AA Change: G113R

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 0.9339 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 98% (61/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik T A 1: 151,769,150 (GRCm39) T121S possibly damaging Het
4930503E14Rik T C 14: 44,406,641 (GRCm39) E136G probably damaging Het
Adgrg4 A G X: 56,005,320 (GRCm39) N2527S probably damaging Het
Ak1 G A 2: 32,519,593 (GRCm39) S7N probably benign Het
Aktip A C 8: 91,852,466 (GRCm39) I230R possibly damaging Het
Alms1 A G 6: 85,598,271 (GRCm39) I1032M probably damaging Het
Asb4 T A 6: 5,423,651 (GRCm39) V266E probably damaging Het
Bace1 G A 9: 45,765,962 (GRCm39) V130M probably damaging Het
Bglap A T 3: 88,291,744 (GRCm39) probably benign Het
Brpf3 T C 17: 29,040,233 (GRCm39) S885P probably benign Het
Chd9 A T 8: 91,750,202 (GRCm39) I1742F possibly damaging Het
Col9a2 T A 4: 120,909,586 (GRCm39) I415N probably damaging Het
Cybc1 A T 11: 121,115,528 (GRCm39) probably null Het
Dnajc7 T C 11: 100,492,607 (GRCm39) Y38C probably benign Het
Dync2i2 A G 2: 29,922,820 (GRCm39) L309P probably benign Het
Enam A G 5: 88,651,236 (GRCm39) Y840C probably damaging Het
Etnppl T A 3: 130,425,442 (GRCm39) C416S probably damaging Het
Fgf20 A T 8: 40,732,896 (GRCm39) S181T probably benign Het
Fut8 T A 12: 77,510,835 (GRCm39) Y421N probably damaging Het
Gcn1 T G 5: 115,737,147 (GRCm39) L1295R probably damaging Het
Gm11437 A G 11: 84,055,337 (GRCm39) V93A probably benign Het
Gm9989 T C 3: 81,829,549 (GRCm39) noncoding transcript Het
Gsdmc4 A T 15: 63,765,736 (GRCm39) probably null Het
Gvin3 T A 7: 106,198,772 (GRCm39) noncoding transcript Het
Ighv10-1 A T 12: 114,442,643 (GRCm39) M114K probably benign Het
Il22b T C 10: 118,126,115 (GRCm39) I161V probably damaging Het
Itfg2 T A 6: 128,387,413 (GRCm39) probably benign Het
Kirrel1 G A 3: 86,995,774 (GRCm39) Q387* probably null Het
Klk1 C T 7: 43,876,968 (GRCm39) R24* probably null Het
Klra7 T C 6: 130,208,612 (GRCm39) probably null Het
Ltn1 T C 16: 87,213,118 (GRCm39) Y481C possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mrps2 A G 2: 28,359,782 (GRCm39) N213S probably benign Het
Muc4 A T 16: 32,569,869 (GRCm39) I310F possibly damaging Het
Ntrk3 T A 7: 78,167,185 (GRCm39) Y102F probably damaging Het
Or8k24 A T 2: 86,216,431 (GRCm39) C110* probably null Het
Otof C T 5: 30,556,635 (GRCm39) G282D probably damaging Het
Pcdhb2 A T 18: 37,430,367 (GRCm39) probably null Het
Pign A T 1: 105,515,703 (GRCm39) probably null Het
Plekha6 G A 1: 133,222,416 (GRCm39) E1001K probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Ppm1d A G 11: 85,236,678 (GRCm39) T486A probably benign Het
Pudp A G 18: 50,701,329 (GRCm39) F135L probably benign Het
Rd3l T G 12: 111,945,945 (GRCm39) N178T probably benign Het
Rel A C 11: 23,703,215 (GRCm39) probably null Het
Sf3a1 T A 11: 4,117,824 (GRCm39) F195L probably damaging Het
Slc30a1 G C 1: 191,639,401 (GRCm39) A95P probably damaging Het
Slc47a2 T C 11: 61,194,773 (GRCm39) T469A probably benign Het
Slc4a10 A T 2: 61,876,989 (GRCm39) M1L probably benign Het
Slc8a1 T A 17: 81,955,703 (GRCm39) D445V probably damaging Het
Spata31e5 T A 1: 28,816,712 (GRCm39) D440V probably damaging Het
Spic T C 10: 88,511,545 (GRCm39) H237R possibly damaging Het
Stk26 A G X: 49,977,910 (GRCm39) E317G probably benign Het
Tex10 A T 4: 48,459,355 (GRCm39) Y506* probably null Het
Trhde T A 10: 114,280,585 (GRCm39) R848* probably null Het
Trpc5 T A X: 143,202,594 (GRCm39) R545* probably null Het
Usp24 C T 4: 106,216,286 (GRCm39) T379M possibly damaging Het
Zfp783 A T 6: 47,922,499 (GRCm39) noncoding transcript 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
R3891:Slc9a7 UTSW X 20,052,352 (GRCm39) missense probably damaging 0.99
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'- TGGTATCAGCTCACCTTCCG -3'
(R):5'- ACCAGAGAAAGCATACTTAGGCTC -3'

Sequencing Primer
(F):5'- CGCAGCATGTCATTCTGC -3'
(R):5'- CTCTGGCCAGTTTCTGAAAGAGAC -3'
Posted On 2015-05-15