Incidental Mutation 'IGL02892:Slc9a4'
ID 363210
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 # IGL02892
Quality Score
Status
Chromosome 1
Chromosomal Location 40619241-40669885 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40623204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 148 (T148A)
Ref Sequence ENSEMBL: ENSMUSP00000027233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027233]
AlphaFold Q8BUE1
Predicted Effect possibly damaging
Transcript: ENSMUST00000027233
AA Change: T148A

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027233
Gene: ENSMUSG00000026065
AA Change: T148A

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: ENSMUST00000192078
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192849
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193927
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194262
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 A T 12: 84,651,771 (GRCm39) L493* probably null Het
Adam32 T A 8: 25,368,727 (GRCm39) probably benign Het
Alpk1 T C 3: 127,473,771 (GRCm39) D744G possibly damaging Het
Arhgef12 A G 9: 42,912,268 (GRCm39) V530A possibly damaging Het
Baz2b A T 2: 59,731,080 (GRCm39) N2095K probably damaging Het
Btnl2 A T 17: 34,581,642 (GRCm39) Q240L possibly damaging Het
Cd96 T C 16: 45,870,160 (GRCm39) probably null Het
Cep350 G A 1: 155,744,552 (GRCm39) T2089I possibly damaging Het
Chd9 T C 8: 91,703,543 (GRCm39) probably benign Het
Cib4 C T 5: 30,702,051 (GRCm39) probably benign Het
Cilp2 T C 8: 70,336,970 (GRCm39) T280A probably benign Het
Coq5 T A 5: 115,432,876 (GRCm39) probably benign Het
Cyth3 A G 5: 143,693,192 (GRCm39) I339V possibly damaging Het
Dcaf7 T C 11: 105,937,518 (GRCm39) V47A possibly damaging Het
Dcdc2c A G 12: 28,585,544 (GRCm39) I151T probably benign Het
Defb7 T A 8: 19,547,678 (GRCm39) F61Y probably benign Het
Diaph3 T A 14: 87,104,066 (GRCm39) K773* probably null Het
Dmxl1 A G 18: 49,992,187 (GRCm39) N311S probably damaging Het
Dnah7b G A 1: 46,158,458 (GRCm39) R347H possibly damaging Het
Egflam C T 15: 7,319,277 (GRCm39) V234I probably benign Het
Emilin3 C T 2: 160,751,069 (GRCm39) V180M possibly damaging Het
Fam76b A T 9: 13,740,117 (GRCm39) E50V probably null Het
Fat3 A T 9: 16,288,858 (GRCm39) Y222N probably damaging Het
Grm7 A G 6: 111,230,981 (GRCm39) N468S probably damaging Het
Gucy1a2 G T 9: 3,634,471 (GRCm39) G172C probably damaging Het
Hmcn1 A C 1: 150,551,725 (GRCm39) probably null Het
Hydin G A 8: 111,325,591 (GRCm39) V4667M possibly damaging Het
Idh2 T C 7: 79,745,418 (GRCm39) S408G probably benign Het
Kcng4 T C 8: 120,359,821 (GRCm39) Q185R probably benign Het
Lamp3 A G 16: 19,494,802 (GRCm39) V301A probably damaging Het
Lrrc23 T C 6: 124,751,399 (GRCm39) N220S probably benign Het
Lrrc41 T A 4: 115,946,032 (GRCm39) M249K possibly damaging Het
Ltbp4 T A 7: 27,010,074 (GRCm39) D1162V probably damaging Het
Mlh1 T C 9: 111,082,037 (GRCm39) I229V probably benign Het
Or1o11 T C 17: 37,756,925 (GRCm39) L160P probably damaging Het
Pgap6 A G 17: 26,338,094 (GRCm39) Y466C probably damaging Het
Plekhg2 T A 7: 28,062,342 (GRCm39) D525V probably damaging Het
Plin4 T C 17: 56,412,108 (GRCm39) K641R probably damaging Het
Plxnb2 A G 15: 89,045,425 (GRCm39) probably null Het
Polr1a T C 6: 71,908,680 (GRCm39) S502P possibly damaging Het
Prss16 A G 13: 22,187,220 (GRCm39) V450A probably benign Het
Prss42 G A 9: 110,628,458 (GRCm39) V201M probably damaging Het
Pus7 A T 5: 23,959,554 (GRCm39) N322K probably damaging Het
Riok1 G T 13: 38,224,041 (GRCm39) probably benign Het
Rmdn3 T A 2: 118,984,561 (GRCm39) T64S probably benign Het
Rmnd5a T A 6: 71,391,798 (GRCm39) M131L probably benign Het
Rtbdn C T 8: 85,681,718 (GRCm39) R170C probably damaging Het
Sesn3 T C 9: 14,226,030 (GRCm39) probably null Het
Slc2a6 A G 2: 26,914,305 (GRCm39) Y271H probably benign Het
Slc5a5 T G 8: 71,345,161 (GRCm39) T49P probably damaging Het
Slc7a10 T C 7: 34,894,593 (GRCm39) V84A possibly damaging Het
Smg1 T A 7: 117,767,178 (GRCm39) probably benign Het
Snx19 T A 9: 30,339,660 (GRCm39) V266E probably damaging Het
Synm T A 7: 67,384,804 (GRCm39) I511F probably damaging Het
Tango6 T A 8: 107,468,642 (GRCm39) probably benign Het
Tie1 T A 4: 118,343,479 (GRCm39) D128V probably damaging Het
Timeless T C 10: 128,080,120 (GRCm39) L423P probably damaging Het
Tln1 A G 4: 43,555,679 (GRCm39) L145P probably damaging Het
Trp53i13 A T 11: 77,399,121 (GRCm39) D376E probably damaging Het
Ubr4 A T 4: 139,144,642 (GRCm39) I1484F probably damaging Het
Unc13a C T 8: 72,102,554 (GRCm39) V943M probably damaging Het
Usp50 T C 2: 126,611,822 (GRCm39) K301R probably damaging Het
Vmn1r62 G T 7: 5,679,202 (GRCm39) M294I probably benign Het
Vps39 A G 2: 120,153,652 (GRCm39) probably benign Het
Vwa8 T A 14: 79,341,140 (GRCm39) probably benign Het
Wdr27 A T 17: 15,096,438 (GRCm39) W748R possibly damaging 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
IGL03028:Slc9a4 APN 1 40,649,537 (GRCm39) missense probably benign 0.06
IGL03083:Slc9a4 APN 1 40,668,562 (GRCm39) missense probably benign 0.00
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 2015-12-18