Incidental Mutation 'IGL01104:Agap1'
ID50273
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agap1
Ensembl Gene ENSMUSG00000055013
Gene NameArfGAP with GTPase domain, ankyrin repeat and PH domain 1
SynonymsGgap1, Centg2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.208) question?
Stock #IGL01104
Quality Score
Status
Chromosome1
Chromosomal Location89454806-89897617 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 89726075 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027521] [ENSMUST00000074945] [ENSMUST00000190096]
Predicted Effect probably benign
Transcript: ENSMUST00000027521
SMART Domains Protein: ENSMUSP00000027521
Gene: ENSMUSG00000055013

DomainStartEndE-ValueType
Pfam:Ras 73 231 1.1e-18 PFAM
low complexity region 269 289 N/A INTRINSIC
PH 347 590 1.36e-15 SMART
ArfGap 609 729 4.58e-51 SMART
ANK 768 797 1.83e-3 SMART
ANK 801 832 1.33e2 SMART
low complexity region 840 852 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000074945
SMART Domains Protein: ENSMUSP00000074478
Gene: ENSMUSG00000055013

DomainStartEndE-ValueType
Pfam:Miro 73 181 5e-24 PFAM
Pfam:Ras 73 231 3e-19 PFAM
low complexity region 269 289 N/A INTRINSIC
PH 347 537 7.93e-17 SMART
ArfGap 556 676 4.58e-51 SMART
ANK 715 744 1.83e-3 SMART
ANK 748 779 1.33e2 SMART
low complexity region 787 799 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190096
SMART Domains Protein: ENSMUSP00000140599
Gene: ENSMUSG00000055013

DomainStartEndE-ValueType
Pfam:Miro 73 181 5e-24 PFAM
Pfam:Ras 73 231 3e-19 PFAM
low complexity region 269 289 N/A INTRINSIC
PH 347 537 7.93e-17 SMART
ArfGap 556 676 4.58e-51 SMART
ANK 715 744 1.83e-3 SMART
ANK 748 779 1.33e2 SMART
low complexity region 787 799 N/A INTRINSIC
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 an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AU015836 A T X: 93,971,887 D15V probably damaging Het
Capns2 G T 8: 92,901,755 D91Y probably damaging Het
Chd6 C T 2: 160,961,927 R2071Q probably damaging Het
Col4a4 G T 1: 82,466,545 P1334T unknown Het
Dusp12 T G 1: 170,874,473 H319P probably damaging Het
Emilin3 A T 2: 160,909,783 V112E probably damaging Het
Eya3 T A 4: 132,711,929 F455L probably damaging Het
F10 G A 8: 13,055,686 G417D probably damaging Het
Fat3 A C 9: 16,375,728 V833G possibly damaging Het
Fat3 A T 9: 15,998,460 L2082H probably damaging Het
Golga5 T A 12: 102,493,814 M667K probably damaging Het
Gpr50 T A X: 71,667,227 L305H probably damaging Het
Grhl1 A G 12: 24,584,454 K217R probably damaging Het
Itgb2 A G 10: 77,547,194 probably null Het
Jag1 T A 2: 137,084,378 I1035L probably benign Het
Kdm2a A G 19: 4,356,738 probably benign Het
Lima1 A C 15: 99,843,700 S32A probably damaging Het
Lmod1 C T 1: 135,364,784 T459I probably damaging Het
Mtch1 T C 17: 29,336,222 D284G probably damaging Het
Mtus2 C T 5: 148,077,009 probably null Het
Olfr371 A G 8: 85,231,184 T230A probably benign Het
Ppl T C 16: 5,094,491 Q742R probably benign Het
Reln T C 5: 21,986,967 R1492G probably damaging Het
Rsad1 T C 11: 94,543,640 T323A possibly damaging Het
Slc22a8 A G 19: 8,607,965 T293A possibly damaging Het
Smc4 T C 3: 69,027,584 I677T possibly damaging Het
Ufd1 T C 16: 18,814,837 F4S probably damaging Het
Usp9x T C X: 13,160,903 V16A probably damaging Het
Vmn2r31 A T 7: 7,396,566 C131S probably damaging Het
Vmn2r65 A G 7: 84,940,788 I640T possibly damaging Het
Vwf T C 6: 125,683,556 C2676R probably damaging Het
Other mutations in Agap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Agap1 APN 1 89663796 splice site probably benign
IGL00310:Agap1 APN 1 89887670 missense probably damaging 1.00
IGL02227:Agap1 APN 1 89663775 missense probably damaging 0.99
IGL02959:Agap1 APN 1 89843191 missense possibly damaging 0.94
IGL03303:Agap1 APN 1 89665152 missense probably damaging 1.00
K3955:Agap1 UTSW 1 89887604 missense probably damaging 1.00
R0030:Agap1 UTSW 1 89888744 nonsense probably null
R0234:Agap1 UTSW 1 89671212 missense probably damaging 1.00
R0234:Agap1 UTSW 1 89671212 missense probably damaging 1.00
R0400:Agap1 UTSW 1 89843250 splice site probably benign
R1104:Agap1 UTSW 1 89789240 missense probably damaging 0.99
R1160:Agap1 UTSW 1 89843154 missense probably damaging 0.98
R1439:Agap1 UTSW 1 89843186 missense probably damaging 1.00
R1454:Agap1 UTSW 1 89837806 splice site probably null
R1644:Agap1 UTSW 1 89663730 missense probably damaging 0.97
R1984:Agap1 UTSW 1 89766323 missense probably benign
R2141:Agap1 UTSW 1 89837755 missense probably damaging 0.99
R3966:Agap1 UTSW 1 89834461 missense probably damaging 0.99
R4195:Agap1 UTSW 1 89834539 missense probably damaging 0.99
R4669:Agap1 UTSW 1 89837806 splice site probably null
R4951:Agap1 UTSW 1 89609503 missense probably damaging 1.00
R5525:Agap1 UTSW 1 89743773 missense possibly damaging 0.86
R5843:Agap1 UTSW 1 89609550 missense probably damaging 0.97
R5930:Agap1 UTSW 1 89843096 missense probably damaging 1.00
R6030:Agap1 UTSW 1 89630434 missense probably damaging 1.00
R6030:Agap1 UTSW 1 89630434 missense probably damaging 1.00
R6879:Agap1 UTSW 1 89766455 missense probably benign 0.25
R7027:Agap1 UTSW 1 89888722 missense probably benign 0.00
Posted On2013-06-21