Incidental Mutation 'IGL03083:Slc9a4'
ID 417960
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc9a4
Ensembl Gene ENSMUSG00000026065
Gene Name solute carrier family 9 (sodium/hydrogen exchanger), member 4
Synonyms NHE4, D730009J23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03083
Quality Score
Status
Chromosome 1
Chromosomal Location 40619241-40669885 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40668562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 735 (E735G)
Ref Sequence ENSEMBL: ENSMUSP00000027233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027233]
AlphaFold Q8BUE1
Predicted Effect probably benign
Transcript: ENSMUST00000027233
AA Change: E735G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027233
Gene: ENSMUSG00000026065
AA Change: E735G

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Na_H_Exchanger 73 477 1.6e-90 PFAM
PDB:2E30|B 481 516 9e-8 PDB
Pfam:NEXCaM_BD 566 675 8.1e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192454
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display normal growth and survival but have gastric secretions with reduced acidity, mild gastric necrosis and apoptosis, and abnormal gastric mucosa with reduced numbers of parietal and chief cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,932,261 (GRCm39) probably null Het
Acadsb A C 7: 131,042,922 (GRCm39) probably benign Het
Ankk1 A G 9: 49,333,166 (GRCm39) L106P probably benign Het
Ankrd24 G A 10: 81,474,483 (GRCm39) A72T probably benign Het
Ankrd35 A T 3: 96,592,117 (GRCm39) Q801L probably damaging Het
Avil A G 10: 126,852,193 (GRCm39) I659M probably benign Het
Ccnc A G 4: 21,742,683 (GRCm39) D170G possibly damaging Het
Cfap57 T C 4: 118,441,936 (GRCm39) K711E probably damaging Het
Dctn1 T C 6: 83,174,466 (GRCm39) probably benign Het
Dpp6 T C 5: 27,914,548 (GRCm39) probably null Het
Efhb A T 17: 53,706,087 (GRCm39) W817R probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Fer1l4 A G 2: 155,881,286 (GRCm39) probably benign Het
Fgf8 T C 19: 45,725,667 (GRCm39) N137S probably damaging Het
Fndc3b T C 3: 27,521,576 (GRCm39) D533G probably benign Het
Fshb A G 2: 106,887,812 (GRCm39) V69A probably benign Het
Galnt7 A T 8: 57,979,223 (GRCm39) H633Q probably damaging Het
Gm5458 A G 14: 19,652,451 (GRCm39) probably null Het
Hjv T A 3: 96,435,922 (GRCm39) D393E probably benign Het
Hpca A C 4: 129,012,319 (GRCm39) F72L probably damaging Het
Inpp5d A T 1: 87,638,863 (GRCm39) D552V probably damaging Het
Lepr C T 4: 101,671,876 (GRCm39) Q967* probably null Het
Lgr5 A G 10: 115,288,937 (GRCm39) V497A probably benign Het
Matr3 A G 18: 35,705,471 (GRCm39) K132R probably damaging Het
Mib1 T G 18: 10,752,029 (GRCm39) probably null Het
Mios T A 6: 8,215,156 (GRCm39) N117K probably damaging Het
Nab1 T C 1: 52,529,429 (GRCm39) D156G probably benign Het
Nfxl1 C T 5: 72,698,005 (GRCm39) probably benign Het
Nutm2 G A 13: 50,621,480 (GRCm39) G15E probably damaging Het
Oca2 A G 7: 55,945,232 (GRCm39) H280R probably benign Het
Or10al2 C A 17: 37,983,551 (GRCm39) C212* probably null Het
Or4d1 T C 11: 87,804,914 (GRCm39) I273V probably benign Het
P2ry1 A G 3: 60,911,736 (GRCm39) T292A probably benign Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pidd1 A G 7: 141,020,369 (GRCm39) probably null Het
Pitpnm2 T C 5: 124,271,445 (GRCm39) E376G possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polr2a T C 11: 69,635,872 (GRCm39) probably null Het
Sbno2 A T 10: 79,893,368 (GRCm39) M1311K probably damaging Het
Senp7 A G 16: 55,992,228 (GRCm39) N701S probably benign Het
Sirpa T A 2: 129,471,848 (GRCm39) I211N probably damaging Het
Sorbs1 C T 19: 40,302,820 (GRCm39) M790I probably damaging Het
Sult1e1 T A 5: 87,737,983 (GRCm39) M33L probably benign Het
Tapbpl G A 6: 125,205,191 (GRCm39) probably null Het
Top1 A G 2: 160,545,498 (GRCm39) T289A probably damaging Het
Trim58 T A 11: 58,542,216 (GRCm39) M392K probably benign Het
Uaca A G 9: 60,770,945 (GRCm39) I371V probably benign Het
Vmn1r54 T C 6: 90,246,854 (GRCm39) I256T possibly damaging Het
Wdr19 T C 5: 65,388,319 (GRCm39) I668T probably benign Het
Other mutations in Slc9a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Slc9a4 APN 1 40,668,565 (GRCm39) missense probably benign 0.01
IGL01802:Slc9a4 APN 1 40,646,958 (GRCm39) missense probably damaging 1.00
IGL01909:Slc9a4 APN 1 40,651,451 (GRCm39) splice site probably benign
IGL02137:Slc9a4 APN 1 40,640,059 (GRCm39) missense possibly damaging 0.79
IGL02399:Slc9a4 APN 1 40,639,942 (GRCm39) missense probably benign 0.00
IGL02685:Slc9a4 APN 1 40,668,742 (GRCm39) missense probably benign
IGL02874:Slc9a4 APN 1 40,623,198 (GRCm39) missense probably benign 0.02
IGL02892:Slc9a4 APN 1 40,623,204 (GRCm39) missense possibly damaging 0.64
IGL03028:Slc9a4 APN 1 40,649,537 (GRCm39) missense probably benign 0.06
IGL03124:Slc9a4 APN 1 40,619,895 (GRCm39) missense probably damaging 0.99
IGL03144:Slc9a4 APN 1 40,651,362 (GRCm39) missense probably damaging 1.00
IGL03286:Slc9a4 APN 1 40,619,928 (GRCm39) missense probably null 0.99
R0601:Slc9a4 UTSW 1 40,642,230 (GRCm39) missense probably damaging 1.00
R1118:Slc9a4 UTSW 1 40,623,490 (GRCm39) splice site probably benign
R1583:Slc9a4 UTSW 1 40,640,122 (GRCm39) missense probably benign 0.01
R1752:Slc9a4 UTSW 1 40,668,421 (GRCm39) missense probably benign 0.00
R1776:Slc9a4 UTSW 1 40,668,447 (GRCm39) missense probably benign 0.00
R1785:Slc9a4 UTSW 1 40,646,901 (GRCm39) splice site probably null
R1786:Slc9a4 UTSW 1 40,646,901 (GRCm39) splice site probably null
R2131:Slc9a4 UTSW 1 40,646,901 (GRCm39) splice site probably null
R2132:Slc9a4 UTSW 1 40,646,901 (GRCm39) splice site probably null
R2133:Slc9a4 UTSW 1 40,646,901 (GRCm39) splice site probably null
R3785:Slc9a4 UTSW 1 40,623,130 (GRCm39) missense probably damaging 1.00
R4223:Slc9a4 UTSW 1 40,658,286 (GRCm39) missense probably damaging 0.98
R4567:Slc9a4 UTSW 1 40,619,737 (GRCm39) missense probably damaging 0.99
R4605:Slc9a4 UTSW 1 40,640,195 (GRCm39) splice site probably null
R4641:Slc9a4 UTSW 1 40,646,285 (GRCm39) missense probably damaging 1.00
R5407:Slc9a4 UTSW 1 40,646,954 (GRCm39) missense probably benign 0.41
R5823:Slc9a4 UTSW 1 40,658,277 (GRCm39) missense probably damaging 0.97
R5877:Slc9a4 UTSW 1 40,651,423 (GRCm39) missense probably benign
R6389:Slc9a4 UTSW 1 40,619,844 (GRCm39) missense probably benign 0.00
R6430:Slc9a4 UTSW 1 40,640,014 (GRCm39) nonsense probably null
R6603:Slc9a4 UTSW 1 40,662,664 (GRCm39) missense probably benign 0.43
R6950:Slc9a4 UTSW 1 40,642,045 (GRCm39) missense probably damaging 1.00
R7102:Slc9a4 UTSW 1 40,662,559 (GRCm39) missense probably damaging 1.00
R7102:Slc9a4 UTSW 1 40,619,799 (GRCm39) missense probably benign 0.00
R7230:Slc9a4 UTSW 1 40,639,931 (GRCm39) missense probably damaging 1.00
R7313:Slc9a4 UTSW 1 40,668,663 (GRCm39) missense probably benign 0.28
R7384:Slc9a4 UTSW 1 40,651,411 (GRCm39) missense probably benign 0.10
R7405:Slc9a4 UTSW 1 40,640,086 (GRCm39) missense probably damaging 1.00
R7770:Slc9a4 UTSW 1 40,640,123 (GRCm39) missense probably damaging 0.98
R7784:Slc9a4 UTSW 1 40,639,936 (GRCm39) missense probably damaging 1.00
R8313:Slc9a4 UTSW 1 40,619,520 (GRCm39) start gained probably benign
R8724:Slc9a4 UTSW 1 40,623,301 (GRCm39) missense probably damaging 0.98
R8871:Slc9a4 UTSW 1 40,642,015 (GRCm39) missense probably damaging 1.00
R8926:Slc9a4 UTSW 1 40,619,928 (GRCm39) missense possibly damaging 0.71
R9244:Slc9a4 UTSW 1 40,658,249 (GRCm39) missense probably damaging 0.99
R9455:Slc9a4 UTSW 1 40,668,612 (GRCm39) missense probably benign 0.05
X0060:Slc9a4 UTSW 1 40,658,191 (GRCm39) splice site probably null
Posted On 2016-08-02