Incidental Mutation 'IGL00949:Slc9a1'
ID 27288
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc9a1
Ensembl Gene ENSMUSG00000028854
Gene Name solute carrier family 9 (sodium/hydrogen exchanger), member 1
Synonyms Nhe-1, Nhe1, antiporter, Apnh
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00949
Quality Score
Status
Chromosome 4
Chromosomal Location 133097022-133151013 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 133143762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 416 (T416I)
Ref Sequence ENSEMBL: ENSMUSP00000030669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030669]
AlphaFold Q61165
Predicted Effect probably benign
Transcript: ENSMUST00000030669
AA Change: T416I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000030669
Gene: ENSMUSG00000028854
AA Change: T416I

DomainStartEndE-ValueType
transmembrane domain 15 33 N/A INTRINSIC
Pfam:Na_H_Exchanger 109 509 1.3e-89 PFAM
Pfam:NEXCaM_BD 603 704 1.5e-34 PFAM
low complexity region 757 764 N/A INTRINSIC
low complexity region 803 814 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132864
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140681
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141658
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156079
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Na+/H+ antiporter that is a member of the solute carrier family 9. The encoded protein is a plasma membrane transporter that is expressed in the kidney and intestine. This protein plays a central role in regulating pH homeostasis, cell migration and cell volume. This protein may also be involved in tumor growth. [provided by RefSeq, Sep 2011]
PHENOTYPE: Two-thirds of homozygous null mice die before weaning with reduced body weight, ataxia, a relatively mild stomach phenotype, and a postmortem appearance suggestive of death by a convulsive seizure. Homozygotes also display impaired fluid secretion and NaCl absorption in their parotid glands. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(6) Spontaneous(1)

Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl4 A G X: 141,126,325 (GRCm39) C303R probably damaging Het
Als2 C T 1: 59,254,731 (GRCm39) G209S probably damaging Het
Ankrd11 T C 8: 123,635,467 (GRCm39) T56A possibly damaging Het
Arnt T A 3: 95,394,579 (GRCm39) I381N probably damaging Het
Atp13a1 T C 8: 70,252,653 (GRCm39) probably benign Het
Cd180 A T 13: 102,830,268 (GRCm39) T21S possibly damaging Het
Cdc27 T C 11: 104,420,229 (GRCm39) Y138C probably damaging Het
Dhx16 A G 17: 36,198,826 (GRCm39) T753A probably benign Het
Dnah1 A G 14: 31,029,047 (GRCm39) M561T probably benign Het
Dsc3 C A 18: 20,118,688 (GRCm39) G259C probably null Het
Enox2 A T X: 48,129,484 (GRCm39) D346E probably benign Het
Exoc3l T C 8: 106,017,130 (GRCm39) E619G probably benign Het
Exosc9 T C 3: 36,617,415 (GRCm39) probably benign Het
Gmpr2 C T 14: 55,914,207 (GRCm39) probably benign Het
Golga1 T C 2: 38,931,267 (GRCm39) E289G probably damaging Het
H3c1 G A 13: 23,946,014 (GRCm39) T108I probably damaging Het
Jmy A G 13: 93,590,510 (GRCm39) V531A probably damaging Het
Lamp2 T C X: 37,524,350 (GRCm39) N156S probably benign Het
Lrrn1 C A 6: 107,546,261 (GRCm39) N686K probably benign Het
Lyst T C 13: 13,810,070 (GRCm39) V580A possibly damaging Het
Ms4a8a C A 19: 11,056,808 (GRCm39) L91F probably benign Het
Naip2 A G 13: 100,298,099 (GRCm39) F646L probably damaging Het
Npat T C 9: 53,474,662 (GRCm39) V818A probably benign Het
Or2w4 A T 13: 21,795,521 (GRCm39) I206N probably damaging Het
Padi3 C A 4: 140,516,254 (GRCm39) R542L possibly damaging Het
Pid1 A G 1: 84,016,227 (GRCm39) V46A probably damaging Het
Pld5 A T 1: 175,803,039 (GRCm39) C409S probably damaging Het
Plet1 A G 9: 50,410,523 (GRCm39) T105A possibly damaging Het
Polrmt T C 10: 79,573,431 (GRCm39) probably null Het
Pp2d1 T C 17: 53,822,667 (GRCm39) N133S probably benign Het
Prpf40b G T 15: 99,204,419 (GRCm39) V228L probably benign Het
Ptgfrn A T 3: 100,980,161 (GRCm39) M393K probably benign Het
Slc9c1 T C 16: 45,413,721 (GRCm39) S950P probably benign Het
Slitrk1 A T 14: 109,149,241 (GRCm39) V490D probably damaging Het
Th T C 7: 142,450,763 (GRCm39) Y131C probably benign Het
Tlr6 A G 5: 65,110,855 (GRCm39) L684P probably damaging Het
Tpm3 A G 3: 89,997,165 (GRCm39) E234G probably damaging Het
Tti1 A G 2: 157,824,319 (GRCm39) Y1045H probably benign Het
Txnl4b T A 8: 110,295,707 (GRCm39) V37D probably benign Het
Ufl1 A T 4: 25,275,822 (GRCm39) F194I probably damaging Het
Usp13 G A 3: 32,940,726 (GRCm39) E412K possibly damaging Het
Usp46 A T 5: 74,163,903 (GRCm39) L251Q possibly damaging Het
Other mutations in Slc9a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:Slc9a1 APN 4 133,097,859 (GRCm39) missense probably benign 0.03
IGL00952:Slc9a1 APN 4 133,143,693 (GRCm39) missense probably damaging 0.99
IGL01023:Slc9a1 APN 4 133,149,454 (GRCm39) missense probably benign 0.04
IGL01151:Slc9a1 APN 4 133,139,300 (GRCm39) missense probably damaging 1.00
IGL01796:Slc9a1 APN 4 133,147,404 (GRCm39) splice site probably benign
IGL01896:Slc9a1 APN 4 133,145,370 (GRCm39) missense probably damaging 1.00
IGL02621:Slc9a1 APN 4 133,097,879 (GRCm39) missense probably benign
F6893:Slc9a1 UTSW 4 133,149,457 (GRCm39) missense probably benign 0.06
R0123:Slc9a1 UTSW 4 133,147,916 (GRCm39) missense probably benign 0.34
R0134:Slc9a1 UTSW 4 133,147,916 (GRCm39) missense probably benign 0.34
R0225:Slc9a1 UTSW 4 133,147,916 (GRCm39) missense probably benign 0.34
R0658:Slc9a1 UTSW 4 133,147,810 (GRCm39) splice site probably benign
R0759:Slc9a1 UTSW 4 133,143,714 (GRCm39) missense probably damaging 1.00
R0781:Slc9a1 UTSW 4 133,097,859 (GRCm39) missense probably benign 0.03
R1110:Slc9a1 UTSW 4 133,097,859 (GRCm39) missense probably benign 0.03
R1316:Slc9a1 UTSW 4 133,149,558 (GRCm39) missense possibly damaging 0.95
R1637:Slc9a1 UTSW 4 133,149,534 (GRCm39) missense probably benign
R1680:Slc9a1 UTSW 4 133,145,391 (GRCm39) missense probably damaging 1.00
R2050:Slc9a1 UTSW 4 133,143,645 (GRCm39) missense probably benign 0.02
R4279:Slc9a1 UTSW 4 133,139,400 (GRCm39) missense probably benign 0.31
R4960:Slc9a1 UTSW 4 133,097,967 (GRCm39) missense probably damaging 1.00
R5381:Slc9a1 UTSW 4 133,149,382 (GRCm39) missense probably damaging 0.96
R5590:Slc9a1 UTSW 4 133,148,874 (GRCm39) missense probably damaging 0.99
R5638:Slc9a1 UTSW 4 133,139,571 (GRCm39) missense probably damaging 1.00
R5935:Slc9a1 UTSW 4 133,147,176 (GRCm39) intron probably benign
R6334:Slc9a1 UTSW 4 133,149,519 (GRCm39) missense possibly damaging 0.64
R6402:Slc9a1 UTSW 4 133,097,962 (GRCm39) missense probably benign 0.37
R7553:Slc9a1 UTSW 4 133,139,580 (GRCm39) missense probably damaging 1.00
R7772:Slc9a1 UTSW 4 133,139,276 (GRCm39) missense probably damaging 1.00
R7843:Slc9a1 UTSW 4 133,097,753 (GRCm39) start gained probably benign
R8268:Slc9a1 UTSW 4 133,097,934 (GRCm39) missense probably benign 0.08
R8359:Slc9a1 UTSW 4 133,147,927 (GRCm39) missense probably damaging 1.00
R8398:Slc9a1 UTSW 4 133,146,814 (GRCm39) missense probably benign 0.05
R8887:Slc9a1 UTSW 4 133,139,258 (GRCm39) missense probably benign
R9310:Slc9a1 UTSW 4 133,143,681 (GRCm39) missense probably damaging 1.00
X0018:Slc9a1 UTSW 4 133,145,382 (GRCm39) missense probably damaging 0.99
Posted On 2013-04-17