Incidental Mutation 'R7354:Slc9a8'
ID 570783
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 045440-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7354 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 167263632-167318920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 167316051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 576 (F576S)
Ref Sequence ENSEMBL: ENSMUSP00000044185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047815] [ENSMUST00000073873] [ENSMUST00000109218]
AlphaFold Q8R4D1
Predicted Effect possibly damaging
Transcript: ENSMUST00000047815
AA Change: F576S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000044185
Gene: ENSMUSG00000039463
AA Change: F576S

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 possibly damaging
Transcript: ENSMUST00000073873
AA Change: F549S

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000073536
Gene: ENSMUSG00000039463
AA Change: F549S

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
AA Change: F545S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000104841
Gene: ENSMUSG00000039463
AA Change: F545S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (82/82)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 T A 4: 126,311,099 (GRCm39) Q38L possibly damaging Het
Apon T A 10: 128,090,607 (GRCm39) I95N probably benign Het
Arid1a G T 4: 133,421,258 (GRCm39) P464Q unknown Het
Arid4b A G 13: 14,339,455 (GRCm39) D503G probably benign Het
Asxl2 T C 12: 3,505,637 (GRCm39) probably benign Het
Atp2a1 A T 7: 126,048,028 (GRCm39) V594D probably damaging Het
Begain A G 12: 108,999,215 (GRCm39) F519L possibly damaging Het
Bora A G 14: 99,284,794 (GRCm39) T15A probably damaging Het
Btbd7 A T 12: 102,804,464 (GRCm39) M192K probably benign Het
Ccdc125 T G 13: 100,814,382 (GRCm39) probably null Het
Cdcp3 G A 7: 130,858,458 (GRCm39) C1042Y possibly damaging Het
Cdcp3 G T 7: 130,873,762 (GRCm39) C1696F unknown Het
Cfap74 G T 4: 155,549,804 (GRCm39) V146L unknown Het
Crisp1 G A 17: 40,630,071 (GRCm39) probably benign Het
Ctbp1 A T 5: 33,407,732 (GRCm39) H292Q possibly damaging Het
Defb5 T A 8: 19,300,750 (GRCm39) M34K probably benign Het
Dnajc27 A G 12: 4,146,249 (GRCm39) I93V probably benign Het
Dqx1 T A 6: 83,037,957 (GRCm39) Y448* probably null Het
Dynap A T 18: 70,374,371 (GRCm39) C52S possibly damaging Het
Ehd4 C A 2: 119,932,613 (GRCm39) R271L probably damaging Het
Ercc2 T G 7: 19,127,579 (GRCm39) I619S possibly damaging Het
Etf1 A G 18: 35,039,040 (GRCm39) I409T probably damaging Het
Fam117a A G 11: 95,271,529 (GRCm39) D367G probably damaging Het
Fancd2 A G 6: 113,572,907 (GRCm39) D1447G unknown Het
Fbxw9 T C 8: 85,788,825 (GRCm39) S192P probably damaging Het
Frzb A T 2: 80,277,153 (GRCm39) L11Q probably damaging Het
Gm14496 T C 2: 181,642,479 (GRCm39) S717P probably damaging Het
Gm3250 A G 10: 77,618,367 (GRCm39) probably benign Het
Gm4353 C T 7: 115,683,146 (GRCm39) R145Q probably benign Het
Gpr12 A T 5: 146,520,772 (GRCm39) V50D probably damaging Het
Hes1 T C 16: 29,884,746 (GRCm39) probably null Het
Hmcn1 A T 1: 150,682,196 (GRCm39) C451* probably null Het
Iars1 T C 13: 49,857,796 (GRCm39) V347A probably benign Het
Igfn1 A G 1: 135,903,770 (GRCm39) S323P possibly damaging Het
Itga6 G A 2: 71,650,574 (GRCm39) A207T probably damaging Het
Lgi4 T A 7: 30,760,047 (GRCm39) L81H probably damaging Het
Lrp1 T C 10: 127,407,277 (GRCm39) E1888G probably damaging Het
Man2a1 C T 17: 65,059,539 (GRCm39) T1142M probably damaging Het
Mdfic2 T A 6: 98,215,242 (GRCm39) D127V probably damaging Het
Mgam A T 6: 40,721,732 (GRCm39) Y350F probably damaging Het
Miga1 T C 3: 151,996,137 (GRCm39) D351G probably damaging Het
Mro A G 18: 74,006,385 (GRCm39) T111A probably benign Het
Mtrr A T 13: 68,714,326 (GRCm39) V471E probably damaging Het
Myh3 C A 11: 66,987,708 (GRCm39) L1394I probably damaging Het
Myocd A G 11: 65,078,319 (GRCm39) V492A probably benign Het
Nbeal2 A G 9: 110,458,247 (GRCm39) F2115S probably damaging Het
Nlrp1b A T 11: 71,072,376 (GRCm39) M489K possibly damaging Het
Or12j5 A C 7: 140,084,099 (GRCm39) I91R probably damaging Het
Or14j7 A G 17: 38,235,284 (GRCm39) I276V probably benign Het
Or1e1c A T 11: 73,266,201 (GRCm39) I212F probably benign Het
Or4c122 T C 2: 89,079,031 (GRCm39) probably null Het
Or4k44 C T 2: 111,367,909 (GRCm39) A242T possibly damaging Het
Orc2 A G 1: 58,508,906 (GRCm39) S462P possibly damaging Het
Pcdh9 T C 14: 94,125,706 (GRCm39) T155A probably benign Het
Pcdhb16 G A 18: 37,611,177 (GRCm39) V46I possibly damaging Het
Pcdhb22 A G 18: 37,653,311 (GRCm39) D336G probably damaging Het
Pde4dip T A 3: 97,626,646 (GRCm39) R1297S probably damaging Het
Plin4 A G 17: 56,411,427 (GRCm39) M868T probably benign Het
Plxnb2 A G 15: 89,049,928 (GRCm39) M531T possibly damaging Het
Poc5 T C 13: 96,531,033 (GRCm39) V77A probably benign Het
Recql5 G A 11: 115,819,027 (GRCm39) R180C probably damaging Het
Rho C A 6: 115,912,464 (GRCm39) Y268* probably null Het
Riok1 A T 13: 38,231,288 (GRCm39) H182L probably benign Het
Rnf207 T C 4: 152,398,548 (GRCm39) D273G probably damaging Het
Serpinb11 A G 1: 107,305,263 (GRCm39) Y213C probably benign Het
Slc16a10 T C 10: 39,952,951 (GRCm39) Y181C probably damaging Het
Slc22a15 G A 3: 101,771,897 (GRCm39) H401Y probably benign Het
Slc5a5 C A 8: 71,342,247 (GRCm39) R268L probably damaging Het
Slx4 T C 16: 3,804,963 (GRCm39) E617G probably benign Het
Spata31d1e A T 13: 59,889,648 (GRCm39) L724* probably null Het
Top1 T C 2: 160,546,878 (GRCm39) I386T probably damaging Het
Tor1aip1 G T 1: 155,911,859 (GRCm39) D41E probably damaging Het
Tsc22d4 G A 5: 137,766,371 (GRCm39) R479Q probably benign Het
Unc79 C T 12: 103,108,961 (GRCm39) T2191I possibly damaging Het
Vmn2r109 A T 17: 20,761,043 (GRCm39) D771E probably damaging Het
Vmn2r82 A C 10: 79,192,464 (GRCm39) M14L probably benign Het
Zc3h7a C T 16: 10,966,378 (GRCm39) S583N probably damaging Het
Zfp518b G A 5: 38,840,122 (GRCm39) probably benign Het
Zswim4 A G 8: 84,955,478 (GRCm39) W314R 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
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
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
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'- CCTATCGGTTCACAGCCTTG -3'
(R):5'- AAGGCTTTCTCTGTGGCCTG -3'

Sequencing Primer
(F):5'- GTCACCTGACGCTGTCACTG -3'
(R):5'- TCTGTGGCCTGGCAGAGAAG -3'
Posted On 2019-09-13