Incidental Mutation 'R1160:Agap1'
ID100275
Institutional Source Beutler Lab
Gene Symbol Agap1
Ensembl Gene ENSMUSG00000055013
Gene NameArfGAP with GTPase domain, ankyrin repeat and PH domain 1
SynonymsGgap1, Centg2
MMRRC Submission 039233-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.188) question?
Stock #R1160 (G1)
Quality Score97
Status Not validated
Chromosome1
Chromosomal Location89454806-89897617 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 89843154 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 622 (K622N)
Ref Sequence ENSEMBL: ENSMUSP00000140599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027521] [ENSMUST00000074945] [ENSMUST00000190096]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027521
AA Change: K675N

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000027521
Gene: ENSMUSG00000055013
AA Change: K675N

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 damaging
Transcript: ENSMUST00000074945
AA Change: K488N

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000074478
Gene: ENSMUSG00000055013
AA Change: K488N

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 damaging
Transcript: ENSMUST00000190096
AA Change: K622N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140599
Gene: ENSMUSG00000055013
AA Change: K622N

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
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 92.7%
  • 20x: 81.6%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810403A07Rik C A 3: 88,708,862 P452Q probably damaging Het
Ap3b2 A T 7: 81,466,169 probably null Het
Arl5b T C 2: 15,069,837 V43A probably benign Het
Astn1 T C 1: 158,600,365 V702A possibly damaging Het
Bach1 T C 16: 87,715,434 V15A probably benign Het
Cacna1c C T 6: 118,612,625 R1446H probably damaging Het
Ccar2 C T 14: 70,139,769 V774M probably benign Het
Dcaf5 T C 12: 80,340,215 D379G possibly damaging Het
Dcpp1 T A 17: 23,881,431 I45K possibly damaging Het
Ddx17 T A 15: 79,541,087 S128C probably damaging Het
Eml3 A G 19: 8,933,250 N192S probably benign Het
Epha3 T G 16: 63,773,068 D219A probably damaging Het
Fhod3 C T 18: 24,985,236 A210V probably damaging Het
Klhl5 A G 5: 65,141,340 N154S probably benign Het
Lrif1 A G 3: 106,732,717 N373D possibly damaging Het
Map3k20 A G 2: 72,441,520 N664S probably benign Het
Olfr625-ps1 A G 7: 103,682,861 N38D possibly damaging Het
Parp14 G A 16: 35,856,760 A946V probably benign Het
Pdia3 G A 2: 121,432,377 G275S probably damaging Het
Pglyrp4 T A 3: 90,728,831 probably null Het
Pole A G 5: 110,295,253 E349G possibly damaging Het
Ptprj A G 2: 90,444,524 Y1165H probably damaging Het
Rasd1 T A 11: 59,964,721 I29F possibly damaging Het
Scamp3 T C 3: 89,181,198 F237S probably damaging Het
Sccpdh T G 1: 179,684,210 D82E probably benign Het
Slc19a3 A C 1: 83,022,692 H201Q possibly damaging Het
Slc5a4a G A 10: 76,178,161 A401T possibly damaging Het
Snupn T G 9: 56,957,105 C29W probably benign Het
Sorbs2 A G 8: 45,770,576 Y222C probably damaging Het
Sox17 A T 1: 4,491,852 V310E probably damaging Het
Srgap1 T A 10: 121,855,477 Y284F probably benign Het
Srpk1 C A 17: 28,599,774 V363F probably benign Het
Syt13 T A 2: 92,943,042 probably null Het
Taf2 A G 15: 55,071,397 V45A probably benign Het
Tal1 A T 4: 115,068,616 D294V probably damaging Het
Tbl2 A G 5: 135,159,392 T347A probably benign Het
Tet3 A G 6: 83,404,452 S110P probably benign Het
Tmem132a A G 19: 10,858,574 V864A probably damaging Het
Trak1 T C 9: 121,392,007 I80T probably benign Het
Trappc6b G A 12: 59,050,278 T86I probably damaging Het
Usf3 T A 16: 44,218,547 I1130N probably damaging Het
Xirp2 T C 2: 67,509,887 V824A possibly damaging Het
Zfp810 T C 9: 22,278,532 Y360C possibly damaging Het
Zmiz1 T A 14: 25,654,512 V685E probably damaging Het
Zp2 A T 7: 120,136,045 D368E 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
IGL01104:Agap1 APN 1 89726075 splice site probably benign
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
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
R7207:Agap1 UTSW 1 89843099 missense possibly damaging 0.91
R7268:Agap1 UTSW 1 89766348 missense probably benign 0.02
R7289:Agap1 UTSW 1 89455431 start codon destroyed probably null 0.01
Predicted Primers
Posted On2014-01-15