Incidental Mutation 'IGL02131:Ap4e1'
ID281185
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap4e1
Ensembl Gene ENSMUSG00000001998
Gene Nameadaptor-related protein complex AP-4, epsilon 1
Synonyms2310033A20Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.156) question?
Stock #IGL02131
Quality Score
Status
Chromosome2
Chromosomal Location127008717-127067909 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 127061929 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 917 (Y917C)
Ref Sequence ENSEMBL: ENSMUSP00000002063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002063] [ENSMUST00000142740] [ENSMUST00000177372]
Predicted Effect probably benign
Transcript: ENSMUST00000002063
AA Change: Y917C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002063
Gene: ENSMUSG00000001998
AA Change: Y917C

DomainStartEndE-ValueType
Pfam:Adaptin_N 51 600 5.9e-90 PFAM
low complexity region 841 853 N/A INTRINSIC
AP4E_app_platf 1017 1120 4.2e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142740
Predicted Effect probably benign
Transcript: ENSMUST00000177372
SMART Domains Protein: ENSMUSP00000135449
Gene: ENSMUSG00000001998

DomainStartEndE-ValueType
Pfam:Adaptin_N 51 291 2.5e-47 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 encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enlarged lateral ventricles, decreased corpus callosum size, decreased vertical activity, and female anemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik T A 17: 79,627,655 probably benign Het
Adamts19 A G 18: 59,052,660 Y1202C probably damaging Het
Adgrf1 T A 17: 43,303,747 F241I probably damaging Het
Ankrd11 A T 8: 122,894,410 I901N probably damaging Het
Anxa8 A T 14: 34,090,631 D46V possibly damaging Het
Arhgap40 G A 2: 158,531,939 probably null Het
Dnah17 A G 11: 118,072,908 V2513A probably damaging Het
Dnhd1 T C 7: 105,720,802 L4478P probably damaging Het
Dtx3 T C 10: 127,193,279 D30G probably damaging Het
Fat2 A G 11: 55,309,042 Y1069H probably damaging Het
Fbxo21 T A 5: 118,002,090 N538K possibly damaging Het
Frem1 T C 4: 82,924,854 T1748A probably benign Het
Kcnh6 T C 11: 106,020,175 Y466H probably damaging Het
Kif2c G A 4: 117,177,953 S41L possibly damaging Het
Kir3dl2 T A X: 136,457,713 H52L possibly damaging Het
Mageb18 A G X: 92,120,049 C196R possibly damaging Het
Mrpl9 T A 3: 94,444,713 probably null Het
Nt5c1b A G 12: 10,375,491 I345V possibly damaging Het
Olfr137 T A 17: 38,304,648 H271L probably benign Het
Olfr251 A G 9: 38,377,907 T9A probably benign Het
Olfr517 T C 7: 108,868,208 *315W probably null Het
Parp8 T C 13: 116,910,873 N221S probably benign Het
Plbd1 T C 6: 136,661,683 probably benign Het
Recql5 C A 11: 115,923,242 W86L probably benign Het
Rgs6 T C 12: 83,069,495 S232P probably damaging Het
Rnf182 A G 13: 43,668,342 H123R probably benign Het
Rtf2 A G 2: 172,466,292 T204A unknown Het
Sema4d T C 13: 51,702,937 probably null Het
Sept8 T C 11: 53,537,857 S408P possibly damaging Het
Serpini1 A G 3: 75,640,704 N396D probably benign Het
Slc26a2 A C 18: 61,198,812 F516V possibly damaging Het
Tcf4 A G 18: 69,564,626 probably benign Het
Trrap G T 5: 144,840,436 G3045W probably damaging Het
Tspo2 T A 17: 48,449,061 T91S possibly damaging Het
Ttn T C 2: 76,737,614 D27645G probably damaging Het
Uba6 G T 5: 86,150,077 T246K probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Wwp2 T A 8: 107,552,318 M136K probably damaging Het
Zranb3 A T 1: 127,992,951 V412D probably damaging Het
Other mutations in Ap4e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Ap4e1 APN 2 127028281 missense probably damaging 1.00
IGL00423:Ap4e1 APN 2 127028289 missense probably damaging 0.99
IGL00659:Ap4e1 APN 2 127063301 missense probably benign 0.30
IGL01155:Ap4e1 APN 2 127043445 missense probably damaging 1.00
IGL01672:Ap4e1 APN 2 127052189 missense probably damaging 1.00
IGL01866:Ap4e1 APN 2 127046910 missense possibly damaging 0.83
IGL01940:Ap4e1 APN 2 127043511 missense probably damaging 0.97
IGL02207:Ap4e1 APN 2 127011816 missense probably damaging 1.00
IGL03394:Ap4e1 APN 2 127063397 missense probably benign 0.18
quickstep UTSW 2 127008902 critical splice donor site probably null
K7371:Ap4e1 UTSW 2 127066536 unclassified probably benign
R0090:Ap4e1 UTSW 2 127064985 missense possibly damaging 0.70
R0420:Ap4e1 UTSW 2 127049360 missense probably damaging 1.00
R0490:Ap4e1 UTSW 2 127046186 missense probably damaging 1.00
R0632:Ap4e1 UTSW 2 127049280 nonsense probably null
R0670:Ap4e1 UTSW 2 127011864 critical splice donor site probably null
R0698:Ap4e1 UTSW 2 127063363 missense probably benign 0.00
R1183:Ap4e1 UTSW 2 127014201 missense probably damaging 0.98
R1338:Ap4e1 UTSW 2 127046909 missense probably damaging 1.00
R1513:Ap4e1 UTSW 2 127061555 missense probably null 1.00
R1528:Ap4e1 UTSW 2 127011823 missense possibly damaging 0.50
R1994:Ap4e1 UTSW 2 127061547 missense probably benign 0.00
R2270:Ap4e1 UTSW 2 127047163 critical splice donor site probably null
R2271:Ap4e1 UTSW 2 127047163 critical splice donor site probably null
R3108:Ap4e1 UTSW 2 127056306 critical splice donor site probably null
R4019:Ap4e1 UTSW 2 127061926 missense probably benign 0.01
R4020:Ap4e1 UTSW 2 127061926 missense probably benign 0.01
R4454:Ap4e1 UTSW 2 127047141 missense probably damaging 1.00
R4691:Ap4e1 UTSW 2 127061871 missense probably benign 0.08
R4767:Ap4e1 UTSW 2 127060438 missense probably benign
R4803:Ap4e1 UTSW 2 127049559 missense probably benign 0.20
R4804:Ap4e1 UTSW 2 127043758 critical splice donor site probably null
R5155:Ap4e1 UTSW 2 127063369 missense probably benign 0.02
R5157:Ap4e1 UTSW 2 127061695 missense probably benign 0.00
R5248:Ap4e1 UTSW 2 127064922 missense possibly damaging 0.95
R5363:Ap4e1 UTSW 2 127037864 splice site probably null
R5507:Ap4e1 UTSW 2 127008898 missense probably damaging 0.98
R5642:Ap4e1 UTSW 2 127064979 missense possibly damaging 0.67
R6122:Ap4e1 UTSW 2 127028160 splice site probably null
R6180:Ap4e1 UTSW 2 127066588 nonsense probably null
R6298:Ap4e1 UTSW 2 127047115 missense probably benign 0.00
R6329:Ap4e1 UTSW 2 127061716 missense probably benign 0.10
R6543:Ap4e1 UTSW 2 127066605 missense probably benign 0.03
R6954:Ap4e1 UTSW 2 127064951 missense probably benign 0.01
R7144:Ap4e1 UTSW 2 127011807 missense probably damaging 0.99
R7165:Ap4e1 UTSW 2 127063318 missense possibly damaging 0.48
R7348:Ap4e1 UTSW 2 127061976 missense probably damaging 0.96
R7348:Ap4e1 UTSW 2 127061977 missense possibly damaging 0.76
R7382:Ap4e1 UTSW 2 127008902 critical splice donor site probably null
R7571:Ap4e1 UTSW 2 127019336 missense probably damaging 1.00
R7768:Ap4e1 UTSW 2 127046934 missense probably damaging 1.00
X0060:Ap4e1 UTSW 2 127063410 missense probably benign 0.01
X0065:Ap4e1 UTSW 2 127061650 missense probably benign 0.00
Posted On2015-04-16