|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 9 (sodium/hydrogen exchanger), member 1|
|Synonyms||Apnh, Nhe1, antiporter|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8359 (G1)|
|Chromosomal Location||133369706-133423702 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 133420616 bp|
|Amino Acid Change||Glutamine to Histidine at position 648 (Q648H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030669 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030669]|
|Predicted Effect||probably damaging
AA Change: Q648H
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: Q648H
|Coding Region Coverage||
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|
|Other mutations in this stock||
|Other mutations in Slc9a1||
(F):5'- AAGGACTTGGGACATTGGCAAC -3'
(R):5'- TGTGTCTGTTATAGGACCGCAG -3'
(F):5'- GGGACATTGGCAACCCACC -3'
(R):5'- CTGTTATAGGACCGCAGCTGAG -3'