Incidental Mutation 'R7289:Agap1'
ID 566199
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 045396-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R7289 (G1)
Quality Score 121.008
Status Not validated
Chromosome 1
Chromosomal Location 89382533-89823004 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 89383153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000027521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027521] [ENSMUST00000190096]
AlphaFold Q8BXK8
Predicted Effect probably null
Transcript: ENSMUST00000027521
AA Change: M1K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000027521
Gene: ENSMUSG00000055013
AA Change: M1K

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 null
Transcript: ENSMUST00000190096
AA Change: M1K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000140599
Gene: ENSMUSG00000055013
AA Change: M1K

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
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G A 17: 45,818,550 (GRCm39) D112N probably damaging Het
Abca7 T A 10: 79,845,778 (GRCm39) I1580K probably damaging Het
Aebp1 A G 11: 5,815,059 (GRCm39) D234G probably damaging Het
Agrn A T 4: 156,263,389 (GRCm39) L345H probably damaging Het
Amfr A G 8: 94,725,754 (GRCm39) M209T possibly damaging Het
Angel2 G A 1: 190,673,371 (GRCm39) R338H possibly damaging Het
Ankrd27 C T 7: 35,330,674 (GRCm39) A866V probably damaging Het
Apc G A 18: 34,448,324 (GRCm39) R1740Q probably damaging Het
Arhgap32 A T 9: 32,168,233 (GRCm39) S739C possibly damaging Het
Arhgap32 G C 9: 32,168,234 (GRCm39) S739T probably benign Het
Arhgef2 C T 3: 88,543,192 (GRCm39) S418L probably benign Het
Arhgef25 T C 10: 127,019,641 (GRCm39) T472A possibly damaging Het
Atrnl1 C T 19: 57,638,846 (GRCm39) S328F probably benign Het
Bahcc1 C T 11: 120,171,000 (GRCm39) A1514V probably benign Het
Calcoco2 C T 11: 95,990,823 (GRCm39) E305K unknown Het
Ccn1 C T 3: 145,354,428 (GRCm39) W161* probably null Het
Cdc42bpa A T 1: 179,889,362 (GRCm39) K203* probably null Het
Cmc1 A T 9: 117,904,250 (GRCm39) I47N possibly damaging Het
Cntln A G 4: 84,964,540 (GRCm39) E656G possibly damaging Het
Dcun1d3 T C 7: 119,458,864 (GRCm39) K57R possibly damaging Het
Ddx23 T C 15: 98,546,492 (GRCm39) E559G probably damaging Het
Dennd6a G A 14: 26,333,193 (GRCm39) R367Q probably damaging Het
Desi2 A T 1: 178,083,702 (GRCm39) probably benign Het
Dido1 T C 2: 180,301,424 (GRCm39) D2160G unknown Het
Efcab3 T C 11: 104,929,184 (GRCm39) M4838T probably benign Het
Epb41 A G 4: 131,718,520 (GRCm39) probably null Het
Esrrb T A 12: 86,517,331 (GRCm39) probably null Het
Fabp1 C A 6: 71,180,111 (GRCm39) T94N probably benign Het
Fam120a A T 13: 49,045,482 (GRCm39) C785S probably damaging Het
Fam243 T C 16: 92,117,710 (GRCm39) I193V probably damaging Het
Foxc1 A G 13: 31,991,243 (GRCm39) Y18C probably damaging Het
Fshr T C 17: 89,293,272 (GRCm39) T469A probably benign Het
Gm14399 T A 2: 174,972,204 (GRCm39) H517L unknown Het
Gm39115 G T 7: 141,689,297 (GRCm39) Q159K unknown Het
Gm7347 T A 5: 26,262,306 (GRCm39) I72F possibly damaging Het
Hmcn1 A G 1: 150,559,466 (GRCm39) V2395A possibly damaging Het
Ighv5-17 T G 12: 113,822,858 (GRCm39) T88P probably damaging Het
Insm2 T A 12: 55,647,329 (GRCm39) Y358N probably damaging Het
Kazn A T 4: 141,844,486 (GRCm39) L409Q Het
Kcnj5 A C 9: 32,234,045 (GRCm39) L90R probably damaging Het
Kcnv2 A T 19: 27,311,084 (GRCm39) T484S probably damaging Het
Kdm3b T C 18: 34,927,557 (GRCm39) Y140H probably benign Het
Kifbp A C 10: 62,401,895 (GRCm39) C261W probably damaging Het
Krt25 C T 11: 99,212,098 (GRCm39) A180T probably benign Het
Mmp1a A G 9: 7,467,294 (GRCm39) E290G probably damaging Het
Muc21 G A 17: 35,929,761 (GRCm39) A1475V unknown Het
Nr3c1 T C 18: 39,547,654 (GRCm39) T755A probably benign Het
Nr3c1 A T 18: 39,555,786 (GRCm39) I517N probably benign Het
Nxpe2 A G 9: 48,234,339 (GRCm39) probably null Het
Oaz1 C A 10: 80,662,673 (GRCm39) T27K possibly damaging Het
Or4p7 A T 2: 88,222,050 (GRCm39) H153L probably damaging Het
Or51f5 T C 7: 102,424,634 (GRCm39) I301T probably damaging Het
Or5t5 G T 2: 86,617,034 (GRCm39) C320F probably benign Het
Or6z3 T A 7: 6,463,777 (GRCm39) W90R probably benign Het
Or8k21 A G 2: 86,145,369 (GRCm39) M87T probably benign Het
Or8s5 A G 15: 98,237,943 (GRCm39) V309A probably damaging Het
Pafah2 A T 4: 134,147,308 (GRCm39) K319M probably damaging Het
Pask A T 1: 93,259,309 (GRCm39) V236E probably damaging Het
Pcdh1 T C 18: 38,322,966 (GRCm39) T956A probably damaging Het
Pcdhb18 C A 18: 37,623,700 (GRCm39) N343K probably damaging Het
Pcsk2 A T 2: 143,532,343 (GRCm39) I164F probably damaging Het
Phf1 T C 17: 27,154,289 (GRCm39) Y169H probably damaging Het
Pkdrej T A 15: 85,705,301 (GRCm39) I212F probably benign Het
Pnkp T A 7: 44,508,114 (GRCm39) W146R probably damaging Het
Prkcb A T 7: 122,143,910 (GRCm39) I325F probably benign Het
Ptpn21 C T 12: 98,670,450 (GRCm39) D239N probably benign Het
Ptprb A G 10: 116,164,070 (GRCm39) T626A probably damaging Het
Pttg1 T C 11: 43,311,916 (GRCm39) N180D probably benign Het
Raly G A 2: 154,703,774 (GRCm39) R115Q probably damaging Het
Rims2 A T 15: 39,301,114 (GRCm39) M474L probably benign Het
Sash1 A T 10: 8,605,960 (GRCm39) I810N probably damaging Het
Scnn1g T A 7: 121,337,304 (GRCm39) L55* probably null Het
Sema6b A T 17: 56,432,573 (GRCm39) D543E possibly damaging Het
Serpina11 C T 12: 103,952,761 (GRCm39) G5E unknown Het
Sesn3 A T 9: 14,187,848 (GRCm39) M1L probably benign Het
Sez6 T A 11: 77,865,149 (GRCm39) I632N possibly damaging Het
Sgo2b A T 8: 64,394,192 (GRCm39) I49N probably damaging Het
Slc30a2 A T 4: 134,071,524 (GRCm39) I86F possibly damaging Het
Slc38a6 T A 12: 73,333,786 (GRCm39) W30R probably benign Het
Spata31g1 A T 4: 42,972,379 (GRCm39) T571S probably benign Het
Spata31g1 A T 4: 42,973,252 (GRCm39) I862F possibly damaging Het
Stk31 T G 6: 49,415,393 (GRCm39) V576G probably benign Het
Szt2 G A 4: 118,233,075 (GRCm39) T2297I unknown Het
Tmem208 T C 8: 106,061,418 (GRCm39) F148S possibly damaging Het
Tprg1l A G 4: 154,245,031 (GRCm39) L19P possibly damaging Het
Tubg2 C A 11: 101,050,897 (GRCm39) N207K probably damaging Het
Ube2n G T 10: 95,377,612 (GRCm39) K130N probably benign Het
Usp36 T C 11: 118,164,355 (GRCm39) Y384C probably damaging Het
Vcan A T 13: 89,840,852 (GRCm39) L1564* probably null Het
Xkr6 A T 14: 64,035,748 (GRCm39) D283V unknown Het
Zfp654 T C 16: 64,605,523 (GRCm39) H352R probably benign Het
Zfp819 T A 7: 43,266,506 (GRCm39) C330S probably damaging Het
Zfp970 G T 2: 177,167,086 (GRCm39) C220F probably damaging 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
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 PCR Primer
(F):5'- ATGAACTGAGCCCCTCTACTG -3'
(R):5'- TGACAACCCATCTTCCCTGG -3'

Sequencing Primer
(F):5'- ACTGCTTCATCCTCAGCG -3'
(R):5'- ATCTTCCCTGGCTGACTGG -3'
Posted On 2019-06-26