Incidental Mutation 'R9040:Agap1'
ID 687642
Institutional Source Beutler Lab
Gene Symbol Agap1
Ensembl Gene ENSMUSG00000055013
Gene Name ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
Synonyms Ggap1, Centg2
MMRRC Submission 068867-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R9040 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 89382533-89823004 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89671466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 391 (V391A)
Ref Sequence ENSEMBL: ENSMUSP00000027521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027521] [ENSMUST00000074945] [ENSMUST00000190096]
AlphaFold Q8BXK8
Predicted Effect probably damaging
Transcript: ENSMUST00000027521
AA Change: V391A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027521
Gene: ENSMUSG00000055013
AA Change: V391A

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 possibly damaging
Transcript: ENSMUST00000074945
AA Change: V257A

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074478
Gene: ENSMUSG00000055013
AA Change: V257A

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 possibly damaging
Transcript: ENSMUST00000190096
AA Change: V391A

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140599
Gene: ENSMUSG00000055013
AA Change: V391A

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (59/59)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A C 8: 44,103,363 (GRCm39) probably benign Het
Apba2 C T 7: 64,393,072 (GRCm39) A531V possibly damaging Het
Apcdd1 T A 18: 63,070,414 (GRCm39) V227E probably damaging Het
Bbs7 A G 3: 36,629,987 (GRCm39) V564A probably benign Het
Ccdc154 T A 17: 25,382,793 (GRCm39) M141K possibly damaging Het
Cd200l1 C A 16: 45,264,509 (GRCm39) K16N possibly damaging Het
Cdk9 C A 2: 32,597,999 (GRCm39) Q352H probably benign Het
Chsy3 T C 18: 59,542,760 (GRCm39) Y633H probably damaging Het
Cpz T A 5: 35,672,835 (GRCm39) Y195F possibly damaging Het
Cyp3a16 T C 5: 145,392,922 (GRCm39) R128G possibly damaging Het
Dhodh A T 8: 110,328,781 (GRCm39) probably benign Het
Dlec1 G A 9: 118,950,985 (GRCm39) S517N probably benign Het
Dock7 A T 4: 98,889,364 (GRCm39) L175* probably null Het
Duxf1 A G 10: 58,059,608 (GRCm39) I382T unknown Het
Ect2l A T 10: 18,077,098 (GRCm39) S2T possibly damaging Het
Epn3 G A 11: 94,382,749 (GRCm39) S445F possibly damaging Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gm7298 T C 6: 121,764,438 (GRCm39) F1439S probably benign Het
Hormad1 A T 3: 95,487,470 (GRCm39) E289D possibly damaging Het
Idua T C 5: 108,828,929 (GRCm39) L391P probably damaging Het
Kank2 G T 9: 21,706,115 (GRCm39) A301E probably damaging Het
Kcnk10 C T 12: 98,401,098 (GRCm39) E526K probably benign Het
Kif16b T C 2: 142,691,798 (GRCm39) I229V probably benign Het
Krt25 T C 11: 99,207,379 (GRCm39) Y400C probably benign Het
Krt26 C T 11: 99,222,093 (GRCm39) G405S probably benign Het
Krt42 G A 11: 100,157,859 (GRCm39) R202W probably damaging Het
Lbr A G 1: 181,644,910 (GRCm39) V547A probably damaging Het
Lrrc8b T C 5: 105,628,161 (GRCm39) L169P probably benign Het
Midn T A 10: 79,989,918 (GRCm39) V262D probably damaging Het
Mroh9 T A 1: 162,890,069 (GRCm39) I223F probably benign Het
Mtor C A 4: 148,548,205 (GRCm39) A490E probably benign Het
Muc16 G A 9: 18,556,082 (GRCm39) Q3404* probably null Het
Myo5a A T 9: 75,081,341 (GRCm39) E975D probably benign Het
Ncoa7 T C 10: 30,530,389 (GRCm39) Y764C probably benign Het
Nedd4l T C 18: 65,342,734 (GRCm39) L769P probably damaging Het
Or11g25 G T 14: 50,722,995 (GRCm39) G27W probably benign Het
Pank4 C G 4: 155,064,559 (GRCm39) T706R probably benign Het
Plxnc1 G T 10: 94,779,379 (GRCm39) C354* probably null Het
Prkca A G 11: 107,905,186 (GRCm39) I184T possibly damaging Het
Prune2 T C 19: 17,097,991 (GRCm39) V1165A probably damaging Het
Psmc6 T A 14: 45,581,111 (GRCm39) D302E probably benign Het
Rab11fip5 A G 6: 85,324,915 (GRCm39) L464P probably damaging Het
Reg1 A T 6: 78,403,268 (GRCm39) probably benign Het
Rhbdf1 T C 11: 32,163,063 (GRCm39) T438A probably benign Het
Ryr2 T C 13: 11,609,672 (GRCm39) R4385G probably damaging Het
Ryr3 A G 2: 112,784,731 (GRCm39) Y237H probably damaging Het
Scai G T 2: 38,965,164 (GRCm39) T560K probably benign Het
Scn1a A G 2: 66,148,245 (GRCm39) L80P probably damaging Het
Sez6 T C 11: 77,864,762 (GRCm39) L574P probably benign Het
Slc41a1 T G 1: 131,768,623 (GRCm39) S194A probably damaging Het
Slc6a7 T C 18: 61,134,360 (GRCm39) probably benign Het
Slit3 A G 11: 35,594,136 (GRCm39) H1442R probably damaging Het
Sra1 A T 18: 36,808,790 (GRCm39) L281Q probably damaging Het
Steap2 A T 5: 5,732,722 (GRCm39) W101R probably benign Het
Tfap2b C T 1: 19,304,314 (GRCm39) R375W probably damaging Het
Tfr2 A T 5: 137,572,967 (GRCm39) T233S probably benign Het
Traf3ip1 T A 1: 91,429,092 (GRCm39) H286Q probably damaging Het
Ubash3a A G 17: 31,457,960 (GRCm39) probably benign Het
Vmn2r85 A G 10: 130,254,311 (GRCm39) I791T probably damaging Het
Zkscan4 T C 13: 21,668,229 (GRCm39) C256R probably benign Het
Zscan4-ps3 A T 7: 11,346,638 (GRCm39) N225Y probably benign Het
Other mutations in Agap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Agap1 APN 1 89,591,518 (GRCm39) splice site probably benign
IGL00310:Agap1 APN 1 89,815,392 (GRCm39) missense probably damaging 1.00
IGL01104:Agap1 APN 1 89,653,797 (GRCm39) splice site probably benign
IGL02227:Agap1 APN 1 89,591,497 (GRCm39) missense probably damaging 0.99
IGL02959:Agap1 APN 1 89,770,913 (GRCm39) missense possibly damaging 0.94
IGL03303:Agap1 APN 1 89,592,874 (GRCm39) missense probably damaging 1.00
K3955:Agap1 UTSW 1 89,815,326 (GRCm39) missense probably damaging 1.00
R0030:Agap1 UTSW 1 89,816,466 (GRCm39) nonsense probably null
R0234:Agap1 UTSW 1 89,598,934 (GRCm39) missense probably damaging 1.00
R0234:Agap1 UTSW 1 89,598,934 (GRCm39) missense probably damaging 1.00
R0400:Agap1 UTSW 1 89,770,972 (GRCm39) splice site probably benign
R1104:Agap1 UTSW 1 89,716,962 (GRCm39) missense probably damaging 0.99
R1160:Agap1 UTSW 1 89,770,876 (GRCm39) missense probably damaging 0.98
R1439:Agap1 UTSW 1 89,770,908 (GRCm39) missense probably damaging 1.00
R1454:Agap1 UTSW 1 89,765,528 (GRCm39) splice site probably null
R1644:Agap1 UTSW 1 89,591,452 (GRCm39) missense probably damaging 0.97
R1984:Agap1 UTSW 1 89,694,045 (GRCm39) missense probably benign
R2141:Agap1 UTSW 1 89,765,477 (GRCm39) missense probably damaging 0.99
R3966:Agap1 UTSW 1 89,762,183 (GRCm39) missense probably damaging 0.99
R4195:Agap1 UTSW 1 89,762,261 (GRCm39) missense probably damaging 0.99
R4669:Agap1 UTSW 1 89,765,528 (GRCm39) splice site probably null
R4951:Agap1 UTSW 1 89,537,225 (GRCm39) missense probably damaging 1.00
R5525:Agap1 UTSW 1 89,671,495 (GRCm39) missense possibly damaging 0.86
R5843:Agap1 UTSW 1 89,537,272 (GRCm39) missense probably damaging 0.97
R5930:Agap1 UTSW 1 89,770,818 (GRCm39) missense probably damaging 1.00
R6030:Agap1 UTSW 1 89,558,156 (GRCm39) missense probably damaging 1.00
R6030:Agap1 UTSW 1 89,558,156 (GRCm39) missense probably damaging 1.00
R6879:Agap1 UTSW 1 89,694,177 (GRCm39) missense probably benign 0.25
R7027:Agap1 UTSW 1 89,816,444 (GRCm39) missense probably benign 0.00
R7207:Agap1 UTSW 1 89,770,821 (GRCm39) missense possibly damaging 0.91
R7268:Agap1 UTSW 1 89,694,070 (GRCm39) missense probably benign 0.02
R7289:Agap1 UTSW 1 89,383,153 (GRCm39) start codon destroyed probably null 0.01
R7689:Agap1 UTSW 1 89,762,188 (GRCm39) missense probably damaging 1.00
R7690:Agap1 UTSW 1 89,770,793 (GRCm39) missense probably benign 0.43
R7801:Agap1 UTSW 1 89,558,207 (GRCm39) missense probably damaging 1.00
R7849:Agap1 UTSW 1 89,558,141 (GRCm39) missense probably damaging 0.99
R8364:Agap1 UTSW 1 89,815,396 (GRCm39) missense probably damaging 1.00
R8491:Agap1 UTSW 1 89,537,294 (GRCm39) missense probably damaging 1.00
R9016:Agap1 UTSW 1 89,694,188 (GRCm39) critical splice donor site probably null
R9254:Agap1 UTSW 1 89,653,741 (GRCm39) missense probably damaging 1.00
R9477:Agap1 UTSW 1 89,765,485 (GRCm39) missense probably benign
RF015:Agap1 UTSW 1 89,561,985 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTGGGAAGCAAGAGTAAGTTGTTTC -3'
(R):5'- TCTGCAGCAGGAAGTACTCG -3'

Sequencing Primer
(F):5'- AGCAAGAGTAAGTTGTTTCTTTGCCC -3'
(R):5'- AGGAAGTACTCGGCTCCTCAG -3'
Posted On 2021-11-19