Incidental Mutation 'R4904:Slc9a8'
ID 378020
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 042507-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4904 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 167263632-167318920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 167313316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 393 (I393V)
Ref Sequence ENSEMBL: ENSMUSP00000104841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047815] [ENSMUST00000073873] [ENSMUST00000109218]
AlphaFold Q8R4D1
Predicted Effect probably benign
Transcript: ENSMUST00000047815
AA Change: I424V

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000044185
Gene: ENSMUSG00000039463
AA Change: I424V

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: I397V

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000073536
Gene: ENSMUSG00000039463
AA Change: I397V

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 possibly damaging
Transcript: ENSMUST00000109218
AA Change: I393V

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104841
Gene: ENSMUSG00000039463
AA Change: I393V

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: ENSMUST00000125855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131956
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149607
Meta Mutation Damage Score 0.1223 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 94% (82/87)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 T G 4: 129,906,332 (GRCm39) I920S possibly damaging Het
Afap1l1 A G 18: 61,871,786 (GRCm39) I556T probably benign Het
Ankfy1 C A 11: 72,642,931 (GRCm39) H665N probably benign Het
Aqp9 A C 9: 71,069,685 (GRCm39) probably benign Het
Arhgap21 A G 2: 20,854,872 (GRCm39) S1497P probably benign Het
Armc7 A G 11: 115,379,800 (GRCm39) D166G probably damaging Het
Arrdc1 C A 2: 24,816,676 (GRCm39) V167F possibly damaging Het
Col6a3 A T 1: 90,729,164 (GRCm39) I1259N probably damaging Het
Coq8a C T 1: 180,006,168 (GRCm39) R207Q probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dcbld1 C T 10: 52,196,066 (GRCm39) Q425* probably null Het
Def8 A G 8: 124,188,219 (GRCm39) N445D probably damaging Het
Dicer1 C T 12: 104,679,325 (GRCm39) V551I probably benign Het
Dst A T 1: 34,208,879 (GRCm39) T800S probably damaging Het
Dtl A T 1: 191,300,457 (GRCm39) C136S probably damaging Het
Duox1 T A 2: 122,151,345 (GRCm39) Y310N probably damaging Het
Duxf1 T A 10: 58,059,309 (GRCm39) R482* probably null Het
Ebf1 T C 11: 44,759,996 (GRCm39) F211S probably damaging Het
Gm44501 A T 17: 40,889,884 (GRCm39) I133F possibly damaging Het
Gm6625 T C 8: 89,873,379 (GRCm39) noncoding transcript Het
Golgb1 A T 16: 36,713,748 (GRCm39) D243V probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gtf2a1l G A 17: 88,997,471 (GRCm39) probably null Het
Herc2 T C 7: 55,807,234 (GRCm39) F2471L probably damaging Het
Hfe A T 13: 23,892,037 (GRCm39) I109N probably damaging Het
Hrg A G 16: 22,770,000 (GRCm39) E43G probably benign Het
Hspa1a T C 17: 35,189,427 (GRCm39) D492G probably damaging Het
Itgb8 T C 12: 119,134,606 (GRCm39) D487G probably benign Het
Jag1 A G 2: 136,929,062 (GRCm39) V798A probably damaging Het
Kcnq5 A G 1: 21,494,324 (GRCm39) V501A probably damaging Het
Kntc1 T C 5: 123,916,396 (GRCm39) V743A possibly damaging Het
Ly86 G T 13: 37,599,496 (GRCm39) V126F possibly damaging Het
Med26 A T 8: 73,250,691 (GRCm39) L136H probably damaging Het
Mpp3 T C 11: 101,891,413 (GRCm39) D575G probably benign Het
Myoc G A 1: 162,466,994 (GRCm39) M54I probably benign Het
Nlrp1c-ps A G 11: 71,133,454 (GRCm39) noncoding transcript Het
Or10v9 C T 19: 11,833,231 (GRCm39) V29M possibly damaging Het
Or51t4 A G 7: 102,598,272 (GRCm39) Y190C probably damaging Het
Or5v1b A G 17: 37,841,522 (GRCm39) Y218C probably damaging Het
Pak5 A T 2: 135,925,267 (GRCm39) D678E probably benign Het
Pcdhb12 T C 18: 37,570,909 (GRCm39) V685A possibly damaging Het
Pcdhga2 A G 18: 37,802,932 (GRCm39) T259A possibly damaging Het
Pde6a A T 18: 61,398,105 (GRCm39) M702L probably benign Het
Pigq A G 17: 26,150,034 (GRCm39) probably benign Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Ptch1 A C 13: 63,670,818 (GRCm39) I904S probably damaging Het
Rflnb A T 11: 75,912,964 (GRCm39) C141* probably null Het
Rilpl1 C A 5: 124,652,807 (GRCm39) probably null Het
Rpgrip1 T C 14: 52,358,544 (GRCm39) S217P possibly damaging Het
Rpgrip1 A T 14: 52,397,586 (GRCm39) I1292F probably damaging Het
Sema3a A C 5: 13,631,066 (GRCm39) Y534S probably damaging Het
Sez6 A G 11: 77,866,080 (GRCm39) Y736C probably damaging Het
Shank1 G T 7: 43,983,464 (GRCm39) probably benign Het
Slc45a4 G A 15: 73,458,691 (GRCm39) S294F probably benign Het
Sod1 T A 16: 90,019,732 (GRCm39) F46Y probably damaging Het
Sult1b1 T C 5: 87,682,912 (GRCm39) D11G probably benign Het
Syn3 T G 10: 86,302,950 (GRCm39) K68N possibly damaging Het
Taar8c C T 10: 23,977,147 (GRCm39) V222I probably benign Het
Tbx20 T C 9: 24,670,129 (GRCm39) K235E probably damaging Het
Tcaf3 C A 6: 42,570,931 (GRCm39) E274* probably null Het
Tll1 A T 8: 64,523,233 (GRCm39) M493K probably benign Het
Tmem236 T A 2: 14,200,803 (GRCm39) S123T probably benign Het
Trim33 T C 3: 103,238,963 (GRCm39) V647A possibly damaging Het
Tspear T A 10: 77,705,489 (GRCm39) Y296N possibly damaging Het
Vps13d T C 4: 144,882,015 (GRCm39) K1187E probably damaging Het
Xpot C T 10: 121,453,083 (GRCm39) V52I probably benign Het
Zdhhc3 A T 9: 122,929,452 (GRCm39) V61E probably damaging Het
Zfp955a A T 17: 33,461,162 (GRCm39) C323* probably null 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
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'- GTCATCTTGCCTAGAACCAGCTC -3'
(R):5'- TGCACCAACCATCTTCTCAG -3'

Sequencing Primer
(F):5'- TTGCCTAGAACCAGCTCATGTAG -3'
(R):5'- GAGGTTGACGTCTTTCTTGCTCC -3'
Posted On 2016-04-15