Incidental Mutation 'R7772:Slc9a1'
ID 598633
Institutional Source Beutler Lab
Gene Symbol Slc9a1
Ensembl Gene ENSMUSG00000028854
Gene Name solute carrier family 9 (sodium/hydrogen exchanger), member 1
Synonyms Nhe-1, Nhe1, antiporter, Apnh
MMRRC Submission 045828-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7772 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 133097022-133151013 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133139276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 165 (F165L)
Ref Sequence ENSEMBL: ENSMUSP00000030669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030669]
AlphaFold Q61165
Predicted Effect probably damaging
Transcript: ENSMUST00000030669
AA Change: F165L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030669
Gene: ENSMUSG00000028854
AA Change: F165L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (68/69)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik T A 11: 3,839,784 (GRCm39) probably null Het
Adora3 T C 3: 105,815,039 (GRCm39) V263A probably benign Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Arfgef1 A G 1: 10,227,235 (GRCm39) V1368A possibly damaging Het
Arid4a A T 12: 71,108,363 (GRCm39) N56I possibly damaging Het
Art3 A T 5: 92,551,472 (GRCm39) Y277F probably damaging Het
Atp2a1 A T 7: 126,047,707 (GRCm39) probably null Het
Banf1 T C 19: 5,415,150 (GRCm39) K54E possibly damaging Het
Bckdk A G 7: 127,505,073 (GRCm39) Y151C probably damaging Het
C1qtnf3 C A 15: 10,958,130 (GRCm39) P58T possibly damaging Het
Cadps2 T C 6: 23,390,445 (GRCm39) R744G probably benign Het
Cdc25b A G 2: 131,031,029 (GRCm39) D118G probably damaging Het
Cnot9 G A 1: 74,566,151 (GRCm39) V181I probably damaging Het
Cobl C T 11: 12,204,488 (GRCm39) G738D probably benign Het
Col18a1 T A 10: 76,904,220 (GRCm39) probably null Het
Crnkl1 A G 2: 145,772,564 (GRCm39) V171A probably benign Het
Dhx57 C T 17: 80,580,507 (GRCm39) D482N possibly damaging Het
Dpysl2 A T 14: 67,066,425 (GRCm39) probably null Het
Drd3 G T 16: 43,582,758 (GRCm39) A52S probably benign Het
Dst T C 1: 34,220,469 (GRCm39) V2091A possibly damaging Het
Evpl T C 11: 116,112,261 (GRCm39) T1810A probably benign Het
Fbxo2 T A 4: 148,248,783 (GRCm39) W92R probably damaging Het
Gas2l2 T A 11: 83,320,103 (GRCm39) D51V possibly damaging Het
Gm11232 A T 4: 71,674,818 (GRCm39) V228E possibly damaging Het
Gm14305 C T 2: 176,412,764 (GRCm39) Q219* probably null Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gpr39 G T 1: 125,605,334 (GRCm39) M87I possibly damaging Het
Heatr1 T C 13: 12,432,522 (GRCm39) M1089T probably benign Het
Ifi206 A T 1: 173,308,640 (GRCm39) M452K Het
Ints8 A T 4: 11,227,190 (GRCm39) I561N probably damaging Het
Itgb2 A T 10: 77,396,946 (GRCm39) K660N probably benign Het
Jun A C 4: 94,939,081 (GRCm39) V143G probably benign Het
Kalrn A G 16: 33,851,952 (GRCm39) M2076T probably benign Het
Krt10 G T 11: 99,279,913 (GRCm39) S82R unknown Het
Lipm T A 19: 34,095,291 (GRCm39) H295Q probably damaging Het
Mybpc2 A C 7: 44,165,348 (GRCm39) probably null Het
Nedd4 T C 9: 72,584,608 (GRCm39) V103A possibly damaging Het
Nol10 T C 12: 17,398,586 (GRCm39) I11T probably damaging Het
Nup210l A G 3: 90,067,233 (GRCm39) S758G probably damaging Het
Or13d1 T A 4: 52,970,713 (GRCm39) C31S probably damaging Het
Or52r1c T G 7: 102,735,388 (GRCm39) I216S probably benign Het
Or8d4 T C 9: 40,038,661 (GRCm39) I199V probably benign Het
Osbpl9 T C 4: 108,923,384 (GRCm39) H425R probably damaging Het
Parp1 G T 1: 180,416,963 (GRCm39) R582S possibly damaging Het
Piwil1 A T 5: 128,816,527 (GRCm39) R36S probably benign Het
Pjvk T C 2: 76,487,877 (GRCm39) probably null Het
Plekha6 G T 1: 133,097,760 (GRCm39) E31D possibly damaging Het
Polr1b C A 2: 128,967,464 (GRCm39) F952L probably damaging Het
Prm3 CTCTTCTTCTTCTTC CTCTTCTTCTTC 16: 10,608,565 (GRCm39) probably benign Het
Psmc6 T A 14: 45,581,107 (GRCm39) I301N probably damaging Het
Rfpl4 C A 7: 5,118,543 (GRCm39) S9I probably benign Het
Rnf14 G T 18: 38,442,629 (GRCm39) C310F probably damaging Het
Rnf17 T A 14: 56,715,144 (GRCm39) F845L probably benign Het
Robo2 T C 16: 73,758,777 (GRCm39) I665V probably benign Het
Rtl1 T A 12: 109,559,619 (GRCm39) H740L probably damaging Het
Ryr2 A G 13: 11,765,897 (GRCm39) S1280P probably benign Het
Slc12a8 G A 16: 33,371,335 (GRCm39) R126H probably damaging Het
Snx19 T C 9: 30,340,221 (GRCm39) I453T probably damaging Het
Spag17 T C 3: 99,987,434 (GRCm39) Y1575H probably damaging Het
Spef2 T C 15: 9,704,567 (GRCm39) I415M probably damaging Het
Ssx2ip T G 3: 146,138,885 (GRCm39) I459S probably damaging Het
Stfa1 A G 16: 36,097,363 (GRCm39) probably null Het
Tmem156 A T 5: 65,237,517 (GRCm39) S48T probably damaging Het
Tmx3 T A 18: 90,545,918 (GRCm39) probably null Het
Unc93a A T 17: 13,328,639 (GRCm39) F405I possibly damaging Het
Vmn1r209 T A 13: 22,990,664 (GRCm39) I9F possibly damaging Het
Vmn2r93 A G 17: 18,533,482 (GRCm39) D462G probably damaging Het
Wdr90 T A 17: 26,080,465 (GRCm39) probably benign Het
Zfp551 T C 7: 12,152,535 (GRCm39) D66G probably damaging Het
Znrf4 A C 17: 56,819,247 (GRCm39) V20G possibly damaging Het
Zscan4d T C 7: 10,896,770 (GRCm39) E200G probably benign Het
Zup1 A T 10: 33,797,698 (GRCm39) probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- TTCTGGCTCCCCTGAAAAGC -3'
(R):5'- ATGATGCTGCCAAAGAGCAG -3'

Sequencing Primer
(F):5'- TCCCCTGAAAAGCCCACGG -3'
(R):5'- CCAGCAGGCCAATGTTGTTGATC -3'
Posted On 2019-11-26