Incidental Mutation 'IGL01616:Slc9a8'
ID 92382
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc9a8
Ensembl Gene ENSMUSG00000039463
Gene Name solute carrier family 9 (sodium/hydrogen exchanger), member 8
Synonyms 1200006P13Rik, 6430709P13Rik, NHE8
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01616
Quality Score
Status
Chromosome 2
Chromosomal Location 167263632-167318920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 167266086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 21 (T21I)
Ref Sequence ENSEMBL: ENSMUSP00000073536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047815] [ENSMUST00000073873] [ENSMUST00000109218]
AlphaFold Q8R4D1
Predicted Effect possibly damaging
Transcript: ENSMUST00000047815
AA Change: T21I

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000044185
Gene: ENSMUSG00000039463
AA Change: T21I

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: T21I

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000073536
Gene: ENSMUSG00000039463
AA Change: T21I

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: T21I

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000104841
Gene: ENSMUSG00000039463
AA Change: T21I

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
Coding Region Coverage
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 T A 16: 85,684,702 (GRCm39) probably null Het
Afg3l1 T A 8: 124,228,746 (GRCm39) W771R probably damaging Het
Braf A G 6: 39,628,586 (GRCm39) S348P probably damaging Het
Cd200 T C 16: 45,217,419 (GRCm39) T112A possibly damaging Het
Cep350 T C 1: 155,828,993 (GRCm39) I304V probably benign Het
Fcsk G T 8: 111,617,108 (GRCm39) H388N possibly damaging Het
Fry A G 5: 150,323,064 (GRCm39) T1072A probably damaging Het
Fry A T 5: 150,362,276 (GRCm39) probably null Het
Gcdh C T 8: 85,620,288 (GRCm39) G8D probably damaging Het
Ivns1abp C A 1: 151,237,294 (GRCm39) T486K possibly damaging Het
Mat1a G A 14: 40,831,436 (GRCm39) V55M probably damaging Het
Or52p1 T C 7: 104,266,928 (GRCm39) F22S probably damaging Het
Pcnx3 C T 19: 5,717,287 (GRCm39) probably benign Het
Psrc1 C A 3: 108,294,008 (GRCm39) S275Y possibly damaging Het
Ptpn21 A G 12: 98,646,272 (GRCm39) L1062P probably damaging Het
Slc22a13b A C 9: 119,049,994 (GRCm39) probably benign Het
Slc35b1 T A 11: 95,279,910 (GRCm39) M178K probably benign Het
Slc6a11 A T 6: 114,111,829 (GRCm39) Q132L possibly damaging Het
Tox T C 4: 6,688,430 (GRCm39) T526A probably damaging Het
Ubr3 C T 2: 69,850,828 (GRCm39) P1749S probably benign Het
Wdfy3 C A 5: 102,061,126 (GRCm39) A1363S probably damaging Het
Zdhhc23 T A 16: 43,793,843 (GRCm39) H277L probably damaging Het
Other mutations in Slc9a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-12-09