Incidental Mutation 'IGL02861:Amer3'
ID362170
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Amer3
Ensembl Gene ENSMUSG00000045174
Gene NameAPC membrane recruitment 3
SynonymsFam123c, 9430069J07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL02861
Quality Score
Status
Chromosome1
Chromosomal Location34579657-34590944 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 34588125 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 482 (K482E)
Ref Sequence ENSEMBL: ENSMUSP00000054748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052670]
Predicted Effect probably damaging
Transcript: ENSMUST00000052670
AA Change: K482E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054748
Gene: ENSMUSG00000045174
AA Change: K482E

DomainStartEndE-ValueType
Pfam:WTX 138 444 1.6e-37 PFAM
low complexity region 506 523 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A T 13: 60,853,332 probably benign Het
6430548M08Rik G A 8: 120,150,124 R157H probably damaging Het
Ankrd11 A T 8: 122,895,827 S429T probably damaging Het
Ano3 T A 2: 110,738,812 N125I probably damaging Het
BC106179 T A 16: 23,223,996 probably benign Het
Bclaf3 T C X: 159,555,528 I457T possibly damaging Het
Cbr3 T G 16: 93,685,119 V121G probably damaging Het
Cd44 A G 2: 102,832,481 probably null Het
Cd72 G A 4: 43,448,332 A316V probably benign Het
Cdc27 A T 11: 104,522,831 probably benign Het
Cdon A T 9: 35,486,957 Q990L probably damaging Het
Clk2 T C 3: 89,173,399 W231R probably damaging Het
Cpsf2 G A 12: 101,999,566 V597I probably benign Het
D630003M21Rik A G 2: 158,200,998 V874A probably benign Het
Daam2 A G 17: 49,469,427 F811L probably damaging Het
Ddx54 T C 5: 120,618,130 probably benign Het
Dysf T A 6: 84,039,537 L59Q probably damaging Het
Eps8 A G 6: 137,499,599 Y601H probably damaging Het
Faf2 T C 13: 54,648,422 Y131H probably damaging Het
Hectd4 T A 5: 121,307,004 D101E possibly damaging Het
Hk2 T C 6: 82,760,158 T30A possibly damaging Het
Il27 A T 7: 126,592,649 L77Q probably damaging Het
Klhdc1 T A 12: 69,251,451 V83D possibly damaging Het
Manba T G 3: 135,570,263 S822A probably benign Het
Mterf2 A C 10: 85,120,331 V143G probably damaging Het
Ncapd3 A G 9: 27,069,899 D895G probably benign Het
Olfr1220 T A 2: 89,097,457 I157L probably benign Het
Olfr429 T A 1: 174,089,036 probably benign Het
Panx1 T C 9: 15,007,805 K253E probably benign Het
Phc1 T A 6: 122,323,789 probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Ptchd4 A G 17: 42,377,317 E250G probably damaging Het
Rp1 G T 1: 4,346,152 S1579* probably null Het
Rrp1 A G 10: 78,409,222 probably benign Het
Ryr3 A G 2: 112,652,841 L4187P possibly damaging Het
Serpinc1 A T 1: 160,999,991 I387F probably damaging Het
Slc2a7 G A 4: 150,168,379 C492Y probably benign Het
Slf1 A G 13: 77,126,359 probably benign Het
Spta1 T A 1: 174,211,598 L1169Q probably damaging Het
Stap1 T A 5: 86,071,965 probably benign Het
Taf6 A G 5: 138,183,885 L66P probably damaging Het
Ttn T C 2: 76,802,497 E14071G probably damaging Het
Unk A G 11: 116,056,299 H586R possibly damaging Het
Zfpm2 A C 15: 41,103,266 K917T probably damaging Het
Other mutations in Amer3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Amer3 APN 1 34588527 missense probably benign 0.26
IGL01062:Amer3 APN 1 34586739 missense probably damaging 0.96
IGL01501:Amer3 APN 1 34588317 missense probably benign
IGL02642:Amer3 APN 1 34586680 utr 5 prime probably benign
IGL02953:Amer3 APN 1 34587796 missense probably damaging 0.98
R0183:Amer3 UTSW 1 34587757 missense probably damaging 0.99
R0335:Amer3 UTSW 1 34579300 unclassified probably benign
R0639:Amer3 UTSW 1 34587821 nonsense probably null
R1391:Amer3 UTSW 1 34588389 missense probably benign 0.09
R1514:Amer3 UTSW 1 34579327 unclassified probably benign
R1615:Amer3 UTSW 1 34588171 missense probably damaging 0.99
R2014:Amer3 UTSW 1 34579444 unclassified probably benign
R2104:Amer3 UTSW 1 34588678 missense probably benign 0.00
R3080:Amer3 UTSW 1 34588422 missense probably benign 0.23
R4508:Amer3 UTSW 1 34588299 missense probably benign 0.00
R4635:Amer3 UTSW 1 34587877 missense probably damaging 1.00
R4978:Amer3 UTSW 1 34579300 unclassified probably benign
R4990:Amer3 UTSW 1 34588741 missense probably benign 0.17
R4991:Amer3 UTSW 1 34588741 missense probably benign 0.17
R5112:Amer3 UTSW 1 34587076 missense possibly damaging 0.94
R5645:Amer3 UTSW 1 34588381 missense possibly damaging 0.76
R6483:Amer3 UTSW 1 34587690 missense probably damaging 0.97
R6769:Amer3 UTSW 1 34588249 missense possibly damaging 0.93
R7097:Amer3 UTSW 1 34588788 missense probably benign
R7246:Amer3 UTSW 1 34586728 missense possibly damaging 0.82
R7347:Amer3 UTSW 1 34587902 missense probably damaging 1.00
R7466:Amer3 UTSW 1 34587993 missense probably damaging 1.00
R7719:Amer3 UTSW 1 34589002 missense possibly damaging 0.55
R8158:Amer3 UTSW 1 34587660 missense possibly damaging 0.68
RF016:Amer3 UTSW 1 34587120 missense probably damaging 1.00
X0020:Amer3 UTSW 1 34588836 missense probably benign 0.00
Z1176:Amer3 UTSW 1 34589013 missense probably benign
Z1177:Amer3 UTSW 1 34587196 nonsense probably null
Posted On2015-12-18