Incidental Mutation 'R6030:Agap1'
ID 480302
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 044202-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R6030 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 89382533-89823004 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89558156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 148 (D148G)
Ref Sequence ENSEMBL: ENSMUSP00000027521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027521] [ENSMUST00000074945] [ENSMUST00000190096] [ENSMUST00000212721]
AlphaFold Q8BXK8
Predicted Effect probably damaging
Transcript: ENSMUST00000027521
AA Change: D148G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027521
Gene: ENSMUSG00000055013
AA Change: D148G

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: D14G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074478
Gene: ENSMUSG00000055013
AA Change: D14G

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: D148G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140599
Gene: ENSMUSG00000055013
AA Change: D148G

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: ENSMUST00000212721
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 96.1%
  • 20x: 86.0%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,133,021 (GRCm39) N1317D probably benign Het
Abhd8 T A 8: 71,910,794 (GRCm39) Y338F possibly damaging Het
Actg2 G T 6: 83,493,346 (GRCm39) N297K probably damaging Het
Alox12 T C 11: 70,145,417 (GRCm39) D52G possibly damaging Het
Ano5 T A 7: 51,224,573 (GRCm39) S496T probably damaging Het
Arl6ip4 T C 5: 124,255,968 (GRCm39) probably null Het
Atp4a G C 7: 30,421,941 (GRCm39) E826Q probably damaging Het
Bbs7 T C 3: 36,657,060 (GRCm39) D256G probably damaging Het
Bckdha T A 7: 25,330,866 (GRCm39) D50V probably damaging Het
Cast A G 13: 74,844,056 (GRCm39) S693P possibly damaging Het
Cfap251 C T 5: 123,412,267 (GRCm39) T532M probably damaging Het
Col6a1 T C 10: 76,545,700 (GRCm39) Y924C unknown Het
Crkl A G 16: 17,270,604 (GRCm39) Y88C probably damaging Het
Cse1l T C 2: 166,761,541 (GRCm39) F32L probably benign Het
Dmxl2 C T 9: 54,300,957 (GRCm39) V2385I probably benign Het
Dnah1 T A 14: 30,989,984 (GRCm39) I3219F probably damaging Het
Dnah17 C T 11: 117,916,375 (GRCm39) R4266H probably benign Het
Efcab5 A G 11: 77,012,088 (GRCm39) L722P probably damaging Het
Emilin3 C A 2: 160,751,105 (GRCm39) V215L probably benign Het
Entr1 T C 2: 26,276,983 (GRCm39) D249G possibly damaging Het
Esr1 A T 10: 4,696,622 (GRCm39) N157I possibly damaging Het
Esrrg A G 1: 187,930,904 (GRCm39) M309V probably benign Het
Fam120b G A 17: 15,622,172 (GRCm39) R50Q probably damaging Het
Fat2 G T 11: 55,201,129 (GRCm39) Y648* probably null Het
Gbp2b T A 3: 142,309,414 (GRCm39) I175N probably benign Het
Gm1043 T A 5: 37,311,952 (GRCm39) probably benign Het
Gm21060 A G 19: 61,285,411 (GRCm39) C33R possibly damaging Het
Gpx6 C T 13: 21,496,510 (GRCm39) S28L probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ifi44 T C 3: 151,455,195 (GRCm39) Q10R probably benign Het
Impa2 T C 18: 67,451,498 (GRCm39) V264A probably benign Het
Khdc1a A T 1: 21,421,108 (GRCm39) M98L probably benign Het
Lrrc45 T A 11: 120,611,474 (GRCm39) L616* probably null Het
Mios A T 6: 8,215,704 (GRCm39) H300L probably benign Het
Mllt6 A T 11: 97,568,051 (GRCm39) T827S probably damaging Het
Mrc1 C A 2: 14,321,712 (GRCm39) D1068E probably benign Het
Ndst3 T C 3: 123,346,168 (GRCm39) Y702C probably damaging Het
Nek11 T A 9: 105,082,087 (GRCm39) probably null Het
Nek4 T C 14: 30,678,890 (GRCm39) F138S probably damaging Het
Nfatc4 T A 14: 56,069,897 (GRCm39) Y688* probably null Het
Nlrx1 C T 9: 44,175,057 (GRCm39) V240M probably damaging Het
Npy6r A T 18: 44,409,149 (GRCm39) Y190F probably benign Het
Or10ab5 A C 7: 108,245,433 (GRCm39) S117A possibly damaging Het
Or10d4b T C 9: 39,534,637 (GRCm39) F71L probably damaging Het
Or1j10 T G 2: 36,267,556 (GRCm39) L256R probably damaging Het
Or52b4i C A 7: 102,191,817 (GRCm39) R225S probably benign Het
Or5p52 A G 7: 107,502,620 (GRCm39) E232G probably benign Het
Or6c68 A T 10: 129,158,238 (GRCm39) T249S probably benign Het
Osbpl7 A C 11: 96,943,087 (GRCm39) H113P probably benign Het
Pam16l C T 10: 43,400,252 (GRCm39) A30V probably benign Het
Pck1 A G 2: 172,996,650 (GRCm39) E188G probably benign Het
Pimreg A G 11: 71,936,576 (GRCm39) D213G probably benign Het
Pkd1l2 A G 8: 117,769,976 (GRCm39) I1160T probably damaging Het
Ppargc1b G A 18: 61,441,005 (GRCm39) Q622* probably null Het
Ppfia2 T A 10: 106,742,338 (GRCm39) C1044S probably damaging Het
Ppp4r3a A G 12: 101,024,659 (GRCm39) V280A probably damaging Het
Ptprf T C 4: 118,068,245 (GRCm39) N1764D probably benign Het
Pygm C T 19: 6,438,842 (GRCm39) R311C possibly damaging Het
Rab7b A G 1: 131,626,299 (GRCm39) K109R probably damaging Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Het
Setbp1 T G 18: 78,900,926 (GRCm39) I914L probably benign Het
Shprh A C 10: 11,027,735 (GRCm39) Q114P probably benign Het
Slc5a9 T C 4: 111,742,725 (GRCm39) I456V possibly damaging Het
Slc8b1 T C 5: 120,657,985 (GRCm39) probably null Het
Spin1 T A 13: 51,293,552 (GRCm39) Y87* probably null Het
Spring1 T C 5: 118,393,798 (GRCm39) W59R probably damaging Het
Srebf2 T C 15: 82,061,477 (GRCm39) probably null Het
Sufu T C 19: 46,463,978 (GRCm39) Y397H probably damaging Het
Tgfb3 A C 12: 86,110,624 (GRCm39) V242G probably benign Het
Tgm3 A T 2: 129,883,920 (GRCm39) Y526F probably damaging Het
Tmem209 A G 6: 30,482,967 (GRCm39) L508P probably damaging Het
Tmem67 T C 4: 12,063,799 (GRCm39) D454G probably benign Het
Ttn T C 2: 76,646,943 (GRCm39) E3280G possibly damaging Het
Tusc3 G C 8: 39,538,560 (GRCm39) G200R probably damaging Het
Umps A G 16: 33,782,508 (GRCm39) V138A probably benign Het
Ypel1 A G 16: 16,902,377 (GRCm39) probably null Het
Zdhhc19 T A 16: 32,317,860 (GRCm39) L63Q probably null 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
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
R9040:Agap1 UTSW 1 89,671,466 (GRCm39) missense probably damaging 0.98
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
Posted On 2017-06-26