Incidental Mutation 'IGL02601:Agap3'
ID300095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agap3
Ensembl Gene ENSMUSG00000023353
Gene NameArfGAP with GTPase domain, ankyrin repeat and PH domain 3
SynonymsCrag, Centg3, MRIP-1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.264) question?
Stock #IGL02601
Quality Score
Status
Chromosome5
Chromosomal Location24452177-24502047 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24483371 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 23 (K23E)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024123] [ENSMUST00000199856] [ENSMUST00000212381]
Predicted Effect probably benign
Transcript: ENSMUST00000024123
AA Change: K386E

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000024123
Gene: ENSMUSG00000023353
AA Change: K386E

DomainStartEndE-ValueType
low complexity region 4 59 N/A INTRINSIC
Pfam:Ras 128 286 1.2e-18 PFAM
low complexity region 328 345 N/A INTRINSIC
PH 403 642 2.76e-16 SMART
ArfGap 661 781 9.17e-51 SMART
ANK 820 849 2.43e1 SMART
ANK 853 885 9.17e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000197513
AA Change: K23E

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199647
Predicted Effect probably benign
Transcript: ENSMUST00000199856
SMART Domains Protein: ENSMUSP00000142529
Gene: ENSMUSG00000023353

DomainStartEndE-ValueType
low complexity region 40 50 N/A INTRINSIC
low complexity region 66 108 N/A INTRINSIC
low complexity region 242 255 N/A INTRINSIC
low complexity region 278 292 N/A INTRINSIC
small_GTPase 307 473 3.2e-11 SMART
low complexity region 511 528 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000212381
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 C T 5: 139,307,786 V57M probably damaging Het
Anln A T 9: 22,338,035 I132K probably damaging Het
Anxa4 T C 6: 86,760,701 T13A probably benign Het
Bdp1 A T 13: 100,098,514 Y191N possibly damaging Het
Carm1 G A 9: 21,586,908 V403M probably damaging Het
Cbx7 A G 15: 79,923,470 probably null Het
Chd8 A C 14: 52,214,300 N16K possibly damaging Het
Crtc3 A T 7: 80,592,567 D499E probably damaging Het
Cul3 A G 1: 80,271,715 probably benign Het
D430041D05Rik T C 2: 104,230,286 D1421G probably damaging Het
Fgb T A 3: 83,045,060 E167D probably benign Het
Gimap6 T A 6: 48,702,475 Q209L probably damaging Het
Gm3604 G A 13: 62,370,176 H123Y possibly damaging Het
Gm5884 A T 6: 128,645,786 noncoding transcript Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Obox3 T C 7: 15,626,923 E97G probably damaging Het
Obsl1 T C 1: 75,489,620 H1488R probably benign Het
Olfr1508 A T 14: 52,463,345 Y221* probably null Het
Olfr790 A G 10: 129,501,854 *323W probably null Het
Pak7 T A 2: 136,116,935 K78* probably null Het
Paqr9 A G 9: 95,560,824 N289S probably damaging Het
Pde3b G A 7: 114,523,342 R715H probably damaging Het
Pglyrp2 T C 17: 32,415,861 H509R probably benign Het
Pik3ap1 A C 19: 41,302,442 N550K probably benign Het
Pon3 A G 6: 5,221,671 Y320H probably damaging Het
Ptprt T A 2: 161,766,307 T690S probably benign Het
Ptprz1 T A 6: 23,000,687 D925E probably benign Het
Rag1 T C 2: 101,642,673 D708G probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rbmy1b A G Y: 3,774,885 I27M probably benign Het
Rfx2 G A 17: 56,785,354 H315Y possibly damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sis T C 3: 72,913,210 N1407S probably benign Het
Slco1c1 T A 6: 141,544,829 L261Q probably damaging Het
Sox30 T G 11: 45,984,762 L447R possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ssu72 A G 4: 155,705,425 N15S possibly damaging Het
Stat4 C T 1: 52,098,415 S455F probably damaging Het
Stk4 T A 2: 164,086,542 L97Q probably damaging Het
Sulf1 A T 1: 12,786,645 N40I probably damaging Het
Sympk G A 7: 19,048,869 V877I probably benign Het
Taar7b A T 10: 24,000,306 H123L probably damaging Het
Teddm1b A G 1: 153,874,616 Y57C probably damaging Het
Tep1 A T 14: 50,833,478 C2121* probably null Het
Tnfsf11 T A 14: 78,299,945 R93* probably null Het
Tspan12 A C 6: 21,835,379 probably benign Het
Tyrp1 A G 4: 80,840,775 E295G probably null Het
Vps4a T C 8: 107,043,061 I334T probably damaging Het
Zfhx3 T C 8: 108,856,830 S1110P probably damaging Het
Zfp507 A G 7: 35,791,711 S716P probably damaging Het
Other mutations in Agap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00574:Agap3 APN 5 24498109 missense probably damaging 0.99
IGL00900:Agap3 APN 5 24476368 splice site probably benign
IGL00966:Agap3 APN 5 24501002 splice site probably benign
IGL02207:Agap3 APN 5 24499936 missense probably benign
IGL02431:Agap3 APN 5 24501012 missense probably damaging 1.00
IGL03090:Agap3 APN 5 24501206 missense possibly damaging 0.91
IGL03131:Agap3 APN 5 24477132 missense probably benign 0.16
IGL03247:Agap3 APN 5 24487822 missense probably damaging 1.00
R0165:Agap3 UTSW 5 24479745 missense probably damaging 0.98
R0344:Agap3 UTSW 5 24451202 unclassified probably benign
R0496:Agap3 UTSW 5 24501243 missense probably damaging 1.00
R0542:Agap3 UTSW 5 24500186 missense possibly damaging 0.95
R1427:Agap3 UTSW 5 24476693 missense probably benign 0.03
R1840:Agap3 UTSW 5 24500231 missense probably damaging 1.00
R1903:Agap3 UTSW 5 24493013 missense probably damaging 1.00
R2101:Agap3 UTSW 5 24487799 missense probably damaging 1.00
R4601:Agap3 UTSW 5 24476408 missense probably damaging 1.00
R4745:Agap3 UTSW 5 24451125 unclassified probably null
R4807:Agap3 UTSW 5 24477116 missense probably damaging 1.00
R4808:Agap3 UTSW 5 24501245 missense probably benign
R4916:Agap3 UTSW 5 24478013 missense probably damaging 0.98
R5056:Agap3 UTSW 5 24477862 missense probably damaging 1.00
R5094:Agap3 UTSW 5 24451321 unclassified probably benign
R5646:Agap3 UTSW 5 24483397 missense probably benign 0.01
R5937:Agap3 UTSW 5 24477817 missense probably damaging 0.99
R6365:Agap3 UTSW 5 24474985 missense probably benign 0.43
R6798:Agap3 UTSW 5 24498282 intron probably null
R6802:Agap3 UTSW 5 24487793 missense possibly damaging 0.87
R6863:Agap3 UTSW 5 24452463 missense possibly damaging 0.63
R6863:Agap3 UTSW 5 24452464 nonsense probably null
R7039:Agap3 UTSW 5 24483401 missense probably benign 0.01
R7111:Agap3 UTSW 5 24501398 missense probably damaging 1.00
R7313:Agap3 UTSW 5 24452384 missense probably benign 0.25
Posted On2015-04-16