Incidental Mutation 'R4746:Slc9a8'
ID 356713
Institutional Source Beutler Lab
Gene Symbol Slc9a8
Ensembl Gene ENSMUSG00000039463
Gene Name solute carrier family 9 (sodium/hydrogen exchanger), member 8
Synonyms 1200006P13Rik, 6430709P13Rik, NHE8
MMRRC Submission 041968-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4746 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 167263632-167318920 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 167283090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 79 (K79*)
Ref Sequence ENSEMBL: ENSMUSP00000104841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047815] [ENSMUST00000073873] [ENSMUST00000109218]
AlphaFold Q8R4D1
Predicted Effect probably null
Transcript: ENSMUST00000047815
AA Change: K106*
SMART Domains Protein: ENSMUSP00000044185
Gene: ENSMUSG00000039463
AA Change: K106*

DomainStartEndE-ValueType
low complexity region 44 51 N/A INTRINSIC
Pfam:Na_H_Exchanger 57 468 3.3e-69 PFAM
low complexity region 497 513 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000073873
AA Change: K79*
SMART Domains Protein: ENSMUSP00000073536
Gene: ENSMUSG00000039463
AA Change: K79*

DomainStartEndE-ValueType
low complexity region 44 51 N/A INTRINSIC
Pfam:Na_H_Exchanger 54 441 3.5e-62 PFAM
low complexity region 470 486 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000109218
AA Change: K79*
SMART Domains Protein: ENSMUSP00000104841
Gene: ENSMUSG00000039463
AA Change: K79*

DomainStartEndE-ValueType
low complexity region 44 51 N/A INTRINSIC
Pfam:Na_H_Exchanger 54 437 3.7e-61 PFAM
low complexity region 466 482 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131956
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135353
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149607
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the Na+/H+ exchanger (NHE) family of integral membrane transporter proteins. The encoded protein is expressed on the apical membrane of the intestinal epithelial cells and plays an important role in mucosal protection. Loss of the encoded protein in mice results in a decrease in the number of goblet and mucin-positive cells, disorganization of the mucin layer, and a decrease in mucosal pH in the colon. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit male infertility, impaired mucin synthesis and bicarbonate secretion in the colon, abnormal blood coagulation and increased length of the small intestine, cecum and ileum crypts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik G A 2: 152,282,685 (GRCm39) S180N probably benign Het
Atp5f1a G T 18: 77,866,442 (GRCm39) G165V probably benign Het
Cbfa2t2 A C 2: 154,365,845 (GRCm39) M352L possibly damaging Het
Ccser2 A T 14: 36,631,082 (GRCm39) D98E probably damaging Het
Cfap20 A G 8: 96,148,684 (GRCm39) probably null Het
Chuk A T 19: 44,077,210 (GRCm39) C379S possibly damaging Het
Cic G A 7: 24,987,905 (GRCm39) G1531E probably damaging Het
Ckap4 A G 10: 84,369,384 (GRCm39) V116A possibly damaging Het
Cxcl13 A G 5: 96,107,756 (GRCm39) K71E probably damaging Het
Dmxl2 A T 9: 54,359,080 (GRCm39) I210N probably benign Het
Donson A C 16: 91,479,125 (GRCm39) V397G probably damaging Het
Dpy19l1 C A 9: 24,361,966 (GRCm39) V332L probably benign Het
Dsp T C 13: 38,379,080 (GRCm39) S1343P possibly damaging Het
Egflam A G 15: 7,254,120 (GRCm39) probably null Het
Eif2b4 A G 5: 31,344,997 (GRCm39) I550T probably damaging Het
Fbxo47 A T 11: 97,770,254 (GRCm39) V46D probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Folr1 T A 7: 101,513,184 (GRCm39) D37V probably damaging Het
Gm17333 AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA 16: 77,649,766 (GRCm39) noncoding transcript Het
Gnb1 C A 4: 155,627,531 (GRCm39) A104E probably damaging Het
Gnptg ATTGTTGATGATTT AT 17: 25,454,571 (GRCm39) probably benign Het
Htra4 A T 8: 25,523,713 (GRCm39) V284E probably damaging Het
Igkv3-3 A T 6: 70,664,308 (GRCm39) D50V probably benign Het
Irs3 A G 5: 137,642,209 (GRCm39) S410P probably benign Het
Kif26b C T 1: 178,701,546 (GRCm39) Q642* probably null Het
Klhl11 A T 11: 100,355,176 (GRCm39) M215K probably benign Het
Lamc3 A G 2: 31,795,626 (GRCm39) N337S possibly damaging Het
Lrrc55 G A 2: 85,026,514 (GRCm39) A170V probably damaging Het
Marchf3 A T 18: 56,909,144 (GRCm39) W214R probably damaging Het
Megf11 A C 9: 64,416,027 (GRCm39) T79P probably damaging Het
Mia3 A G 1: 183,126,663 (GRCm39) V26A possibly damaging Het
Myrf A G 19: 10,195,955 (GRCm39) F353S probably damaging Het
Obscn A G 11: 58,970,634 (GRCm39) probably null Het
Ocstamp T C 2: 165,238,208 (GRCm39) K352R probably benign Het
Or2t35 A T 14: 14,407,359 (GRCm38) I46F probably benign Het
Or8b12 G T 9: 37,657,453 (GRCm39) V8L probably benign Het
Osbpl3 T C 6: 50,305,654 (GRCm39) N434S probably damaging Het
Pign A C 1: 105,512,749 (GRCm39) L645V probably benign Het
Polr1has A T 17: 37,275,765 (GRCm39) I116L probably benign Het
Polr2a A G 11: 69,626,500 (GRCm39) S1540P probably benign Het
Ppp2r3c A T 12: 55,349,420 (GRCm39) probably null Het
Ptprf A G 4: 118,082,236 (GRCm39) V414A possibly damaging Het
Pyroxd2 G A 19: 42,740,839 (GRCm39) R22* probably null Het
Rab11fip2 G A 19: 59,925,542 (GRCm39) A225V probably damaging Het
Ranbp2 C T 10: 58,328,492 (GRCm39) A2836V probably damaging Het
Rimklb G A 6: 122,449,591 (GRCm39) R28* probably null Het
Scyl3 G A 1: 163,776,820 (GRCm39) R404Q probably damaging Het
Sowaha A T 11: 53,370,163 (GRCm39) probably null Het
Tnk1 A G 11: 69,745,992 (GRCm39) V311A probably damaging Het
Tnrc6a T A 7: 122,789,220 (GRCm39) S1680T probably damaging Het
Tpp1 T C 7: 105,398,158 (GRCm39) Y335C probably damaging Het
Ttc39b A G 4: 83,162,340 (GRCm39) V308A probably benign Het
Ttll3 A C 6: 113,384,353 (GRCm39) Q557P probably damaging Het
Ulk3 G A 9: 57,500,201 (GRCm39) A266T probably benign Het
Wfdc6b C A 2: 164,459,353 (GRCm39) C138* probably null Het
Other mutations in Slc9a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01616:Slc9a8 APN 2 167,266,086 (GRCm39) missense possibly damaging 0.46
IGL02626:Slc9a8 APN 2 167,309,597 (GRCm39) splice site probably benign
costello UTSW 2 167,293,216 (GRCm39) missense probably damaging 1.00
R0270:Slc9a8 UTSW 2 167,293,216 (GRCm39) missense probably damaging 1.00
R0417:Slc9a8 UTSW 2 167,299,264 (GRCm39) missense probably benign 0.00
R0504:Slc9a8 UTSW 2 167,266,125 (GRCm39) missense probably benign
R0906:Slc9a8 UTSW 2 167,276,787 (GRCm39) intron probably benign
R1216:Slc9a8 UTSW 2 167,266,041 (GRCm39) missense probably benign 0.00
R1225:Slc9a8 UTSW 2 167,313,443 (GRCm39) missense probably benign 0.20
R1604:Slc9a8 UTSW 2 167,313,352 (GRCm39) missense probably benign 0.09
R1728:Slc9a8 UTSW 2 167,266,065 (GRCm39) missense probably benign 0.00
R1729:Slc9a8 UTSW 2 167,266,065 (GRCm39) missense probably benign 0.00
R1773:Slc9a8 UTSW 2 167,313,385 (GRCm39) missense possibly damaging 0.57
R1775:Slc9a8 UTSW 2 167,299,278 (GRCm39) missense probably benign 0.12
R1918:Slc9a8 UTSW 2 167,266,134 (GRCm39) missense possibly damaging 0.95
R2312:Slc9a8 UTSW 2 167,293,196 (GRCm39) missense probably benign 0.01
R3031:Slc9a8 UTSW 2 167,293,201 (GRCm39) missense probably damaging 1.00
R3752:Slc9a8 UTSW 2 167,299,272 (GRCm39) missense probably benign
R3757:Slc9a8 UTSW 2 167,266,050 (GRCm39) missense probably benign 0.01
R4499:Slc9a8 UTSW 2 167,266,113 (GRCm39) missense probably benign 0.01
R4904:Slc9a8 UTSW 2 167,313,316 (GRCm39) missense possibly damaging 0.51
R4969:Slc9a8 UTSW 2 167,288,449 (GRCm39) missense probably benign 0.06
R5395:Slc9a8 UTSW 2 167,309,642 (GRCm39) missense probably damaging 0.99
R5811:Slc9a8 UTSW 2 167,313,307 (GRCm39) nonsense probably null
R5908:Slc9a8 UTSW 2 167,293,090 (GRCm39) intron probably benign
R6311:Slc9a8 UTSW 2 167,293,140 (GRCm39) missense probably damaging 1.00
R6443:Slc9a8 UTSW 2 167,276,741 (GRCm39) missense probably benign 0.00
R6494:Slc9a8 UTSW 2 167,266,211 (GRCm39) missense probably damaging 1.00
R7161:Slc9a8 UTSW 2 167,307,303 (GRCm39) missense possibly damaging 0.90
R7322:Slc9a8 UTSW 2 167,293,222 (GRCm39) missense probably damaging 1.00
R7354:Slc9a8 UTSW 2 167,316,051 (GRCm39) missense possibly damaging 0.93
R7896:Slc9a8 UTSW 2 167,307,278 (GRCm39) missense probably benign 0.07
R8095:Slc9a8 UTSW 2 167,310,891 (GRCm39) missense probably damaging 0.99
R8725:Slc9a8 UTSW 2 167,315,454 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTTACACCGCACCATGGG -3'
(R):5'- GACTTCCCAACAGAGTCTACAG -3'

Sequencing Primer
(F):5'- ATGGGGCCTGCAGAACTCTAG -3'
(R):5'- TGTAACCTCAGCCTTCAGGAG -3'
Posted On 2015-11-11