Incidental Mutation 'IGL01796:Slc9a1'
ID 155372
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 # IGL01796
Quality Score
Status
Chromosome 4
Chromosomal Location 133097022-133151013 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 133147404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030669]
AlphaFold Q61165
Predicted Effect probably benign
Transcript: ENSMUST00000030669
SMART Domains Protein: ENSMUSP00000030669
Gene: ENSMUSG00000028854

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: 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,590,273 (GRCm39) Y511H probably damaging Het
Abca7 T G 10: 79,849,743 (GRCm39) Y1948D probably damaging Het
Adgrl2 C A 3: 148,564,611 (GRCm39) G319V probably damaging Het
Adgrv1 T A 13: 81,715,461 (GRCm39) D909V probably benign Het
Anapc16 T C 10: 59,824,579 (GRCm39) E119G possibly damaging Het
C1qtnf12 T C 4: 156,050,886 (GRCm39) V285A possibly damaging Het
Cbr1 A C 16: 93,405,119 (GRCm39) N89T probably damaging Het
Cdh23 T A 10: 60,146,916 (GRCm39) Q2778L probably benign Het
Clca4c-ps A G 3: 144,595,340 (GRCm39) noncoding transcript Het
Cst9 T C 2: 148,677,269 (GRCm39) F47L probably damaging Het
Dqx1 T C 6: 83,043,408 (GRCm39) probably benign Het
Dus4l T C 12: 31,692,794 (GRCm39) S150G probably benign Het
E2f2 A T 4: 135,907,728 (GRCm39) K142* probably null Het
Eif2ak4 T A 2: 118,276,785 (GRCm39) H169Q probably benign Het
Fmo9 C T 1: 166,490,904 (GRCm39) A525T probably benign Het
Gm42878 T C 5: 121,683,247 (GRCm39) D6G probably benign Het
Igfals A G 17: 25,099,056 (GRCm39) Y49C probably damaging Het
Il22b T C 10: 118,126,069 (GRCm39) N176S possibly damaging Het
Ipo7 T C 7: 109,629,055 (GRCm39) probably benign Het
Itga1 T C 13: 115,121,657 (GRCm39) E784G probably damaging Het
Jcad G T 18: 4,672,855 (GRCm39) E206* probably null Het
Kif24 A T 4: 41,392,978 (GRCm39) probably benign Het
Lrrc2 T A 9: 110,809,886 (GRCm39) probably null Het
Ltbp1 A G 17: 75,534,240 (GRCm39) probably benign Het
Man2c1 C T 9: 57,045,244 (GRCm39) T451I possibly damaging Het
Manba T A 3: 135,248,150 (GRCm39) N346K probably damaging Het
Nell1 T C 7: 49,825,964 (GRCm39) probably benign Het
Nfat5 T C 8: 108,094,273 (GRCm39) V744A probably damaging Het
Nms T C 1: 38,985,192 (GRCm39) M98T possibly damaging Het
Nos1 A T 5: 118,076,339 (GRCm39) K1120* probably null Het
Or11g25 C A 14: 50,722,998 (GRCm39) Q28K probably benign Het
Plekho1 C T 3: 95,898,147 (GRCm39) R172H probably damaging Het
Pot1b A T 17: 55,976,750 (GRCm39) C391S possibly damaging Het
Scn1a G A 2: 66,162,645 (GRCm39) probably benign Het
Sgce T G 6: 4,711,326 (GRCm39) N149H probably damaging Het
Slc45a1 A G 4: 150,728,426 (GRCm39) W126R probably damaging Het
Tmem131l T A 3: 83,845,362 (GRCm39) K423* probably null Het
Tnrc18 C T 5: 142,750,642 (GRCm39) E1444K possibly damaging Het
Tpp1 T C 7: 105,396,857 (GRCm39) probably benign Het
Trip12 A C 1: 84,705,999 (GRCm39) S610R probably benign Het
Ushbp1 G T 8: 71,840,076 (GRCm39) A525E probably benign Het
Vmn2r106 A T 17: 20,488,314 (GRCm39) M695K possibly damaging Het
Vmn2r118 A G 17: 55,915,585 (GRCm39) I455T probably benign Het
Zbtb41 T C 1: 139,370,621 (GRCm39) F686S probably damaging Het
Other mutations in Slc9a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:Slc9a1 APN 4 133,097,859 (GRCm39) missense probably benign 0.03
IGL00949:Slc9a1 APN 4 133,143,762 (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
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 2014-02-04