Incidental Mutation 'R8095:Slc9a8'
ID 630131
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 067527-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8095 (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 A at 167310891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 384 (V384D)
Ref Sequence ENSEMBL: ENSMUSP00000044185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047815] [ENSMUST00000073873] [ENSMUST00000109218]
AlphaFold Q8R4D1
Predicted Effect probably damaging
Transcript: ENSMUST00000047815
AA Change: V384D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044185
Gene: ENSMUSG00000039463
AA Change: V384D

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 damaging
Transcript: ENSMUST00000073873
AA Change: V357D

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073536
Gene: ENSMUSG00000039463
AA Change: V357D

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 damaging
Transcript: ENSMUST00000109218
AA Change: V353D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104841
Gene: ENSMUSG00000039463
AA Change: V353D

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: 99.9%
  • 3x: 99.7%
  • 10x: 99.1%
  • 20x: 97.6%
Validation Efficiency 100% (49/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,536,196 (GRCm39) I490M possibly damaging Het
Abcc9 T C 6: 142,590,048 (GRCm39) I817V probably benign Het
Atp11b T C 3: 35,888,565 (GRCm39) L945P probably damaging Het
Coa8 C A 12: 111,689,218 (GRCm39) A100D probably damaging Het
Crem T C 18: 3,295,106 (GRCm39) T108A probably benign Het
Cttnbp2 T A 6: 18,435,432 (GRCm39) K142M probably damaging Het
Cyp51 C T 5: 4,136,490 (GRCm39) E435K probably benign Het
Dnah14 G T 1: 181,633,597 (GRCm39) E11* probably null Het
Dpy19l1 T C 9: 24,396,160 (GRCm39) probably null Het
Dym A G 18: 75,247,872 (GRCm39) T259A possibly damaging Het
E030018B13Rik T G 7: 63,569,049 (GRCm39) H32Q unknown Het
Ehmt2 T G 17: 35,126,745 (GRCm39) H809Q probably damaging Het
Fabp6 G A 11: 43,489,543 (GRCm39) R33C probably damaging Het
Fam98a C A 17: 75,845,766 (GRCm39) D327Y probably damaging Het
Foxf1 C T 8: 121,813,551 (GRCm39) T357I probably benign Het
Foxh1 T A 15: 76,553,208 (GRCm39) R169* probably null Het
Hydin T C 8: 111,295,991 (GRCm39) F3568S probably damaging Het
Il22 T C 10: 118,041,028 (GRCm39) S45P possibly damaging Het
Isyna1 C A 8: 71,049,035 (GRCm39) Y371* probably null Het
Lingo3 T C 10: 80,671,255 (GRCm39) H225R probably benign Het
Lmo7 T A 14: 102,124,855 (GRCm39) V560E possibly damaging Het
Mab21l2 A G 3: 86,454,769 (GRCm39) V77A probably benign Het
Mapkbp1 A G 2: 119,848,131 (GRCm39) K595R probably benign Het
Mfsd2a A T 4: 122,845,064 (GRCm39) C216S probably damaging Het
Muc16 A T 9: 18,496,126 (GRCm39) Y6688* probably null Het
Or12j5 T C 7: 140,084,192 (GRCm39) Y60C probably damaging Het
Otud6b T C 4: 14,825,614 (GRCm39) D72G probably damaging Het
Pcdhgb6 A G 18: 37,875,924 (GRCm39) I211V probably benign Het
Ryr3 A G 2: 112,498,388 (GRCm39) probably null Het
Sardh T C 2: 27,132,730 (GRCm39) Y166C probably damaging Het
Scn1a T A 2: 66,132,809 (GRCm39) K171N possibly damaging Het
Scyl2 G T 10: 89,476,965 (GRCm39) T720K probably damaging Het
Slco1a8 T A 6: 141,933,415 (GRCm39) I457F probably benign Het
Smg1 T C 7: 117,772,285 (GRCm39) Y1490C unknown Het
Snx16 A T 3: 10,503,244 (GRCm39) M1K probably null Het
Sqle A G 15: 59,193,276 (GRCm39) S218G probably benign Het
Strip1 A G 3: 107,525,455 (GRCm39) I527T possibly damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tnfsf13 A G 11: 69,575,983 (GRCm39) C35R probably damaging Het
Trf T C 9: 103,087,735 (GRCm39) Y673C probably damaging Het
Ttc39b C T 4: 83,164,557 (GRCm39) A252T probably benign Het
Tubgcp6 A T 15: 89,006,977 (GRCm39) L15H probably benign Het
Uspl1 C T 5: 149,150,992 (GRCm39) Q731* probably null Het
Vmn1r193 T C 13: 22,403,231 (GRCm39) R254G possibly damaging Het
Vrtn C T 12: 84,696,809 (GRCm39) R520C probably damaging Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp644 A C 5: 106,766,280 (GRCm39) V1234G 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
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
R8725:Slc9a8 UTSW 2 167,315,454 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCTTGCTAGTGAGTGATGC -3'
(R):5'- CCAGCTCACATGGAAATACTTC -3'

Sequencing Primer
(F):5'- AGTGATGCTTGCTAGTCTCTTC -3'
(R):5'- CTCGGAAGAAGTTCAGCA -3'
Posted On 2020-06-30