|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 9 (sodium/hydrogen exchanger), member 1|
|Synonyms||Apnh, Nhe1, antiporter|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0225 (G1)|
|Chromosomal Location||133369706-133423702 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 133420605 bp (GRCm38)|
|Amino Acid Change||Lysine to Glutamic Acid at position 645 (K645E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030669 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030669]|
AA Change: K645E
PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: K645E
|Meta Mutation Damage Score||0.1026|
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
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'- AGGACTTGGGACATTGGCAACC -3'
(R):5'- GTGTGTCTGTTATAGGACCGCAGC -3'
(F):5'- TTGGCAACCCACCCCTG -3'
(R):5'- CTGAGGGGGGAACAGCC -3'