Incidental Mutation 'IGL01155:Asic5'
ID50821
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Asic5
Ensembl Gene ENSMUSG00000028008
Gene Nameacid-sensing (proton-gated) ion channel family member 5
SynonymsBLINaC, Accn5, brain-liver-intestine amiloride-sensitive sodium channel
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01155
Quality Score
Status
Chromosome3
Chromosomal Location81982290-82021233 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 82008588 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 282 (T282A)
Ref Sequence ENSEMBL: ENSMUSP00000029641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029641] [ENSMUST00000107736]
Predicted Effect probably benign
Transcript: ENSMUST00000029641
AA Change: T282A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000029641
Gene: ENSMUSG00000028008
AA Change: T282A

DomainStartEndE-ValueType
Pfam:ASC 41 466 3.5e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107736
AA Change: T240A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000103364
Gene: ENSMUSG00000028008
AA Change: T240A

DomainStartEndE-ValueType
Pfam:ASC 1 425 5.5e-110 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine, however, its exact function is not known. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adgrl3 T A 5: 81,560,893 I409N probably benign Het
Akap13 A G 7: 75,569,936 D29G probably damaging Het
Ap4e1 C A 2: 127,043,445 T322K probably damaging Het
Arfgef1 G A 1: 10,198,982 probably benign Het
Bptf T C 11: 107,080,727 T985A probably damaging Het
Btnl9 A G 11: 49,175,691 F349L probably damaging Het
Bves T A 10: 45,353,859 I253K probably damaging Het
Cars T A 7: 143,569,849 Y455F probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cuedc2 C A 19: 46,332,649 V15F probably damaging Het
Defa22 T A 8: 21,163,037 probably null Het
Fat1 G A 8: 45,023,949 A2011T probably damaging Het
Fyb2 C T 4: 104,999,386 T533I probably benign Het
Gm1043 T C 5: 37,187,089 L182P probably damaging Het
Ice1 A T 13: 70,604,082 V1295E possibly damaging Het
Il12b T A 11: 44,404,088 S18T probably benign Het
Iqcg A G 16: 33,040,875 V157A probably damaging Het
Itgax T A 7: 128,145,035 M937K probably benign Het
Large1 T C 8: 73,131,989 S84G probably benign Het
Lrp1b T C 2: 41,770,935 T54A probably benign Het
Mfn1 A G 3: 32,542,836 M148V probably damaging Het
Mobp C A 9: 120,168,234 T73K probably benign Het
Ms4a3 T C 19: 11,629,655 probably benign Het
Muc5ac C T 7: 141,806,943 probably benign Het
Mzt2 A C 16: 15,862,410 S104A possibly damaging Het
Naa16 T A 14: 79,384,715 K27N probably damaging Het
Nos1 T A 5: 117,945,926 I1267N probably damaging Het
Olfr16 T A 1: 172,956,924 I43N probably benign Het
Rara A G 11: 98,968,184 E153G possibly damaging Het
Scn2a T G 2: 65,717,748 S66A probably damaging Het
Slc6a1 A T 6: 114,314,465 probably null Het
Sorbs3 A G 14: 70,199,341 V136A probably damaging Het
Spink5 T A 18: 43,981,147 H143Q probably benign Het
Susd2 G A 10: 75,640,892 T99I possibly damaging Het
T C T 17: 8,441,745 probably null Het
Tac2 G A 10: 127,726,134 probably null Het
Tfap4 G T 16: 4,547,359 P180T probably damaging Het
Trap1 G A 16: 4,043,978 Q641* probably null Het
Unc119 A G 11: 78,348,609 N252S probably damaging Het
Other mutations in Asic5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00977:Asic5 APN 3 82004646 missense possibly damaging 0.48
IGL01908:Asic5 APN 3 82006570 nonsense probably null
IGL03049:Asic5 APN 3 81996949 unclassified probably benign
IGL03078:Asic5 APN 3 82014428 missense possibly damaging 0.65
R0498:Asic5 UTSW 3 82006471 splice site probably benign
R0517:Asic5 UTSW 3 82009526 missense probably benign 0.01
R0668:Asic5 UTSW 3 82021001 missense probably damaging 1.00
R0960:Asic5 UTSW 3 82006540 missense probably benign 0.04
R0973:Asic5 UTSW 3 82008448 splice site probably benign
R1061:Asic5 UTSW 3 82021001 missense probably damaging 1.00
R1106:Asic5 UTSW 3 82004590 missense probably damaging 1.00
R1703:Asic5 UTSW 3 81999722 missense possibly damaging 0.75
R1864:Asic5 UTSW 3 82011987 missense probably benign 0.00
R1892:Asic5 UTSW 3 82020986 missense probably damaging 1.00
R4629:Asic5 UTSW 3 82006504 missense probably damaging 1.00
R4736:Asic5 UTSW 3 81999809 missense possibly damaging 0.56
R5254:Asic5 UTSW 3 82020987 missense probably damaging 1.00
R5284:Asic5 UTSW 3 82008523 missense probably damaging 1.00
R5573:Asic5 UTSW 3 82004484 missense probably benign 0.10
R6163:Asic5 UTSW 3 82006526 missense probably damaging 1.00
R6359:Asic5 UTSW 3 82004496 missense possibly damaging 0.87
R6553:Asic5 UTSW 3 82009466 missense possibly damaging 0.57
R6623:Asic5 UTSW 3 82008585 missense probably damaging 1.00
R7084:Asic5 UTSW 3 82012011 missense probably benign 0.00
R7168:Asic5 UTSW 3 82011975 missense probably damaging 1.00
R7296:Asic5 UTSW 3 82021076 missense probably benign 0.03
R7304:Asic5 UTSW 3 82009565 missense possibly damaging 0.88
R7885:Asic5 UTSW 3 82006505 missense probably benign 0.09
Posted On2013-06-21