Incidental Mutation 'R1216:Slc9a8'
ID 99624
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 039285-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1216 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 167263632-167318920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 167266041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 6 (F6S)
Ref Sequence ENSEMBL: ENSMUSP00000073536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047815] [ENSMUST00000073873] [ENSMUST00000109218]
AlphaFold Q8R4D1
Predicted Effect probably benign
Transcript: ENSMUST00000047815
AA Change: F6S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000044185
Gene: ENSMUSG00000039463
AA Change: F6S

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
AA Change: F6S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000073536
Gene: ENSMUSG00000039463
AA Change: F6S

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: F6S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104841
Gene: ENSMUSG00000039463
AA Change: F6S

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: ENSMUST00000139673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150326
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149607
Meta Mutation Damage Score 0.0632 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.3%
Validation Efficiency 98% (45/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 11,868,716 (GRCm39) D332V probably damaging Het
Akr1c12 T C 13: 4,326,322 (GRCm39) Y53C probably benign Het
Arhgap23 T C 11: 97,383,498 (GRCm39) probably benign Het
AU040320 T C 4: 126,710,276 (GRCm39) probably benign Het
B4galnt2 A G 11: 95,782,767 (GRCm39) L15P probably benign Het
Cadps2 A G 6: 23,583,472 (GRCm39) probably benign Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Dppa4 T C 16: 48,113,343 (GRCm39) F244S possibly damaging Het
Exoc1 A G 5: 76,702,035 (GRCm39) K445R probably benign Het
Fam47e A G 5: 92,710,343 (GRCm39) E114G probably damaging Het
Fgf12 A T 16: 27,981,202 (GRCm39) N171K possibly damaging Het
Fyb2 G A 4: 104,852,903 (GRCm39) V528M possibly damaging Het
Ghr A G 15: 3,349,337 (GRCm39) S614P probably damaging Het
Gm10985 A C 3: 53,752,674 (GRCm39) Y19S probably damaging Het
Gpr152 T A 19: 4,193,554 (GRCm39) V365D possibly damaging Het
Guca1a A G 17: 47,706,637 (GRCm39) probably benign Het
Hivep1 G A 13: 42,310,997 (GRCm39) G1079D probably benign Het
Hnrnpm T C 17: 33,868,687 (GRCm39) D580G probably damaging Het
Ints6 A T 14: 62,945,147 (GRCm39) D394E probably damaging Het
Kat6b T A 14: 21,672,108 (GRCm39) Y339* probably null Het
Kcnj11 C A 7: 45,749,285 (GRCm39) V13L probably benign Het
Lama3 C T 18: 12,554,191 (GRCm39) probably benign Het
Mtrex A G 13: 113,050,876 (GRCm39) probably benign Het
Myo18a A G 11: 77,709,473 (GRCm39) T161A probably benign Het
Ncapg G T 5: 45,857,261 (GRCm39) S991I possibly damaging Het
Nrde2 G A 12: 100,116,069 (GRCm39) probably benign Het
Or4c127 T A 2: 89,832,822 (GRCm39) I24N probably benign Het
Or5d18 T C 2: 87,864,602 (GRCm39) R294G probably damaging Het
Pcdhb7 A T 18: 37,476,927 (GRCm39) T688S probably damaging Het
Pla2g6 T C 15: 79,190,635 (GRCm39) D309G probably benign Het
Plod1 A T 4: 148,005,584 (GRCm39) V404D probably damaging Het
Ppp2r2a G T 14: 67,266,447 (GRCm39) Y71* probably null Het
Prcp A G 7: 92,566,954 (GRCm39) N222S probably benign Het
Rad21 T C 15: 51,833,532 (GRCm39) T316A possibly damaging Het
Ranbp2 T C 10: 58,319,034 (GRCm39) probably benign Het
Rapgef4 C A 2: 72,038,492 (GRCm39) P548T possibly damaging Het
Ric1 G T 19: 29,555,135 (GRCm39) M416I probably benign Het
Smpdl3a T G 10: 57,678,575 (GRCm39) I126S probably null Het
Sphkap A T 1: 83,268,698 (GRCm39) L98Q probably damaging Het
Spink4 T G 4: 40,924,974 (GRCm39) probably benign Het
Taar5 A T 10: 23,847,605 (GRCm39) L334F probably damaging Het
Tecta A T 9: 42,289,203 (GRCm39) I454K probably benign Het
Ttc7 C T 17: 87,654,006 (GRCm39) T561M possibly damaging Het
Vmn2r9 G T 5: 108,995,440 (GRCm39) H403N probably damaging Het
Zdbf2 G A 1: 63,342,161 (GRCm39) C180Y possibly 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
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'- TCCTGACCTCTGGGTGGATGAC -3'
(R):5'- AATGCGACTTCAAGCACACGGC -3'

Sequencing Primer
(F):5'- TGTCTGCTGTTTGCACCA -3'
(R):5'- aggcaatggtagcacacag -3'
Posted On 2014-01-15