Incidental Mutation 'R0906:Slc9a8'
ID 83316
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 039064-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0906 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 167263632-167318920 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to T at 167276787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047815] [ENSMUST00000073873] [ENSMUST00000109218]
AlphaFold Q8R4D1
Predicted Effect probably benign
Transcript: ENSMUST00000047815
SMART Domains Protein: ENSMUSP00000044185
Gene: ENSMUSG00000039463

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 benign
Transcript: ENSMUST00000073873
SMART Domains Protein: ENSMUSP00000073536
Gene: ENSMUSG00000039463

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 benign
Transcript: ENSMUST00000109218
SMART Domains Protein: ENSMUSP00000104841
Gene: ENSMUSG00000039463

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: ENSMUST00000124139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131956
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135353
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149607
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 100% (33/33)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 T A 1: 130,665,430 (GRCm39) probably benign Het
Atp7b T C 8: 22,517,842 (GRCm39) H332R probably benign Het
Bace2 C T 16: 97,158,141 (GRCm39) P47L possibly damaging Het
Cyp2c39 A G 19: 39,499,315 (GRCm39) M1V probably null Het
Dcbld2 A G 16: 58,275,610 (GRCm39) E442G probably damaging Het
Gm14496 A G 2: 181,642,308 (GRCm39) T660A probably damaging Het
Gm4945 A C 17: 47,353,796 (GRCm39) noncoding transcript Het
Gm6729 T C 10: 86,376,456 (GRCm39) noncoding transcript Het
Golga1 G A 2: 38,937,655 (GRCm39) R204W probably damaging Het
Guf1 T C 5: 69,723,729 (GRCm39) I348T probably damaging Het
Htra4 T A 8: 25,527,160 (GRCm39) I212L probably benign Het
Itih5 G A 2: 10,253,999 (GRCm39) R750Q probably benign Het
Lgalsl2 T C 7: 5,362,828 (GRCm39) I153T probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Nsd1 T C 13: 55,425,403 (GRCm39) V1520A probably benign Het
Nuak1 C T 10: 84,211,144 (GRCm39) V315I probably damaging Het
Nup205 G T 6: 35,213,827 (GRCm39) G1740C probably damaging Het
Or1r1 G C 11: 73,874,685 (GRCm39) L250V probably damaging Het
Pclo T C 5: 14,726,700 (GRCm39) probably benign Het
Pik3r6 T C 11: 68,426,927 (GRCm39) probably benign Het
Pikfyve T A 1: 65,292,556 (GRCm39) F1336I probably damaging Het
Pla2r1 A G 2: 60,345,291 (GRCm39) I355T possibly damaging Het
Rgs22 A T 15: 36,104,048 (GRCm39) probably benign Het
Sec63 T A 10: 42,677,924 (GRCm39) M312K probably damaging Het
Slc2a5 T C 4: 150,227,287 (GRCm39) I401T probably benign Het
Stab1 T C 14: 30,867,206 (GRCm39) E1718G probably benign Het
Terb1 A T 8: 105,179,268 (GRCm39) I640N probably damaging Het
Tmem217 A G 17: 29,745,490 (GRCm39) L80P probably damaging Het
Topbp1 C T 9: 103,205,792 (GRCm39) P810L probably benign Het
Ttbk2 G A 2: 120,614,262 (GRCm39) R151C probably damaging Het
Vmn2r88 T G 14: 51,655,666 (GRCm39) L626R probably damaging 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
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
R4746:Slc9a8 UTSW 2 167,283,090 (GRCm39) nonsense probably null
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'- TTGCCAACTGTCTGTTAGCCCG -3'
(R):5'- TCTTTGAGAAGCCCCACAGCAC -3'

Sequencing Primer
(F):5'- AGCCCGACTTCCTTGAGC -3'
(R):5'- CTTTTGGTGCAACCAGGAAGC -3'
Posted On 2013-11-08