Incidental Mutation 'IGL01025:Acap3'
ID 59915
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acap3
Ensembl Gene ENSMUSG00000029033
Gene Name ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
Synonyms Centb5, Kiaa1716-hp
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # IGL01025
Quality Score
Status
Chromosome 4
Chromosomal Location 155976332-155991708 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 155986676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 335 (V335M)
Ref Sequence ENSEMBL: ENSMUSP00000101209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079031] [ENSMUST00000105584]
AlphaFold Q6NXL5
Predicted Effect probably damaging
Transcript: ENSMUST00000079031
AA Change: V331M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078040
Gene: ENSMUSG00000029033
AA Change: V331M

DomainStartEndE-ValueType
low complexity region 17 31 N/A INTRINSIC
PH 265 361 6.35e-16 SMART
low complexity region 377 391 N/A INTRINSIC
ArfGap 399 521 4.62e-56 SMART
low complexity region 554 566 N/A INTRINSIC
low complexity region 601 617 N/A INTRINSIC
low complexity region 628 650 N/A INTRINSIC
low complexity region 669 686 N/A INTRINSIC
ANK 696 725 3.91e-3 SMART
ANK 729 758 2.43e1 SMART
low complexity region 781 796 N/A INTRINSIC
low complexity region 797 809 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105584
AA Change: V335M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101209
Gene: ENSMUSG00000029033
AA Change: V335M

DomainStartEndE-ValueType
Pfam:BAR_3 3 236 4.1e-95 PFAM
PH 269 365 6.35e-16 SMART
low complexity region 381 395 N/A INTRINSIC
ArfGap 403 525 4.62e-56 SMART
low complexity region 558 570 N/A INTRINSIC
low complexity region 605 621 N/A INTRINSIC
low complexity region 632 654 N/A INTRINSIC
low complexity region 673 690 N/A INTRINSIC
ANK 700 729 3.91e-3 SMART
ANK 733 762 2.43e1 SMART
low complexity region 785 800 N/A INTRINSIC
low complexity region 801 813 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131168
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137726
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140902
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apex1 C T 14: 51,163,711 (GRCm39) L113F possibly damaging Het
Bltp1 T A 3: 37,100,429 (GRCm39) H1218Q possibly damaging Het
Cd33 C T 7: 43,182,329 (GRCm39) V39M probably damaging Het
Chek2 A G 5: 110,996,536 (GRCm39) D166G probably damaging Het
Col2a1 T C 15: 97,874,054 (GRCm39) K1376R unknown Het
Cpd C T 11: 76,686,439 (GRCm39) R963H probably damaging Het
Cracd A G 5: 76,805,921 (GRCm39) probably benign Het
Cyp2c67 A C 19: 39,628,376 (GRCm39) Y189* probably null Het
Dock6 T C 9: 21,723,103 (GRCm39) E1606G possibly damaging Het
Dusp4 A T 8: 35,285,666 (GRCm39) E309V probably benign Het
Dync2h1 A G 9: 7,162,789 (GRCm39) I600T probably damaging Het
Fer1l4 A G 2: 155,894,105 (GRCm39) V66A probably benign Het
Fktn T C 4: 53,737,568 (GRCm39) L269P possibly damaging Het
Ftsj3 A G 11: 106,141,185 (GRCm39) I645T probably damaging Het
Fxr2 A G 11: 69,534,713 (GRCm39) H198R probably damaging Het
Fzd7 T C 1: 59,523,539 (GRCm39) V474A probably damaging Het
Gm10295 T A 7: 71,000,406 (GRCm39) D58V unknown Het
Hdlbp T C 1: 93,357,891 (GRCm39) I337V probably benign Het
Hydin T C 8: 111,053,033 (GRCm39) V235A probably benign Het
Igfbp4 C T 11: 98,939,069 (GRCm39) H30Y probably damaging Het
Kcna4 T C 2: 107,126,736 (GRCm39) V490A probably damaging Het
Kcnj13 T G 1: 87,314,700 (GRCm39) D174A probably benign Het
Krt7 T A 15: 101,321,302 (GRCm39) L373Q probably benign Het
Lama3 G A 18: 12,614,094 (GRCm39) V1288I probably benign Het
Mroh9 T C 1: 162,875,435 (GRCm39) D488G possibly damaging Het
Myh7 T C 14: 55,216,994 (GRCm39) E1121G probably damaging Het
Myom1 A G 17: 71,384,912 (GRCm39) N768D probably damaging Het
Naa16 T C 14: 79,622,196 (GRCm39) T48A probably damaging Het
Naglu C T 11: 100,964,773 (GRCm39) P287S probably benign Het
Nipbl A G 15: 8,379,939 (GRCm39) V951A possibly damaging Het
Nlrp3 T A 11: 59,442,713 (GRCm39) M755K probably benign Het
Nlrp4e T C 7: 23,052,586 (GRCm39) probably benign Het
Nt5dc1 C T 10: 34,283,553 (GRCm39) A79T possibly damaging Het
Or10aa3 T C 1: 173,878,251 (GRCm39) F104S probably damaging Het
Or6c205 A T 10: 129,086,609 (GRCm39) I69F possibly damaging Het
Or8b47 A G 9: 38,435,029 (GRCm39) probably benign Het
Otof A G 5: 30,541,597 (GRCm39) L774P possibly damaging Het
Phf20l1 C T 15: 66,484,981 (GRCm39) R322C probably damaging Het
Pkhd1 C T 1: 20,279,400 (GRCm39) G2973R probably benign Het
Plekhg5 G T 4: 152,192,983 (GRCm39) D613Y probably damaging Het
Ppm1h T A 10: 122,714,534 (GRCm39) probably null Het
Pramel31 T A 4: 144,089,947 (GRCm39) L329Q probably damaging Het
Prpf39 T C 12: 65,089,255 (GRCm39) probably benign Het
Rtn3 A G 19: 7,460,406 (GRCm39) S15P unknown Het
Slc22a28 G T 19: 8,094,272 (GRCm39) probably benign Het
Slc4a5 T A 6: 83,239,515 (GRCm39) L143Q probably damaging Het
Sox17 T C 1: 4,562,426 (GRCm39) D130G possibly damaging Het
Stag1 A G 9: 100,833,710 (GRCm39) T1108A possibly damaging Het
Sugp2 G A 8: 70,695,185 (GRCm39) D53N probably damaging Het
Trim33 G A 3: 103,261,234 (GRCm39) probably benign Het
Ttn A G 2: 76,629,568 (GRCm39) I14291T probably damaging Het
Ttn A G 2: 76,619,869 (GRCm39) V15933A probably damaging Het
Tulp3 A C 6: 128,302,847 (GRCm39) I324S probably damaging Het
Zfhx2 T C 14: 55,301,717 (GRCm39) E2089G probably damaging Het
Zhx1 T C 15: 57,918,075 (GRCm39) D57G probably benign Het
Other mutations in Acap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01815:Acap3 APN 4 155,986,644 (GRCm39) missense probably damaging 1.00
IGL02104:Acap3 APN 4 155,989,542 (GRCm39) missense probably damaging 1.00
IGL02387:Acap3 APN 4 155,986,617 (GRCm39) missense probably damaging 1.00
IGL02544:Acap3 APN 4 155,976,867 (GRCm39) missense possibly damaging 0.93
IGL03124:Acap3 APN 4 155,989,490 (GRCm39) missense probably benign 0.00
IGL03052:Acap3 UTSW 4 155,987,815 (GRCm39) missense probably damaging 1.00
PIT4514001:Acap3 UTSW 4 155,987,835 (GRCm39) missense probably benign 0.00
R0207:Acap3 UTSW 4 155,983,881 (GRCm39) missense probably damaging 1.00
R0452:Acap3 UTSW 4 155,986,785 (GRCm39) nonsense probably null
R1110:Acap3 UTSW 4 155,989,856 (GRCm39) splice site probably null
R1387:Acap3 UTSW 4 155,983,937 (GRCm39) missense probably benign 0.06
R1475:Acap3 UTSW 4 155,987,278 (GRCm39) missense probably damaging 1.00
R1535:Acap3 UTSW 4 155,980,631 (GRCm39) splice site probably benign
R2136:Acap3 UTSW 4 155,981,369 (GRCm39) missense probably damaging 1.00
R2149:Acap3 UTSW 4 155,990,082 (GRCm39) missense probably damaging 1.00
R2218:Acap3 UTSW 4 155,988,319 (GRCm39) splice site probably null
R2897:Acap3 UTSW 4 155,989,388 (GRCm39) splice site probably null
R2898:Acap3 UTSW 4 155,987,916 (GRCm39) missense possibly damaging 0.88
R2898:Acap3 UTSW 4 155,989,388 (GRCm39) splice site probably null
R3008:Acap3 UTSW 4 155,990,139 (GRCm39) missense probably benign 0.37
R4170:Acap3 UTSW 4 155,984,458 (GRCm39) missense possibly damaging 0.85
R4193:Acap3 UTSW 4 155,986,234 (GRCm39) missense probably benign 0.07
R4822:Acap3 UTSW 4 155,986,908 (GRCm39) intron probably benign
R4882:Acap3 UTSW 4 155,990,112 (GRCm39) missense probably damaging 0.99
R5482:Acap3 UTSW 4 155,984,613 (GRCm39) missense probably benign 0.00
R5655:Acap3 UTSW 4 155,981,076 (GRCm39) missense probably benign 0.22
R5769:Acap3 UTSW 4 155,986,857 (GRCm39) missense probably damaging 0.99
R5943:Acap3 UTSW 4 155,983,879 (GRCm39) missense possibly damaging 0.78
R6236:Acap3 UTSW 4 155,989,664 (GRCm39) missense possibly damaging 0.91
R6259:Acap3 UTSW 4 155,980,575 (GRCm39) missense possibly damaging 0.91
R6790:Acap3 UTSW 4 155,987,448 (GRCm39) missense probably damaging 1.00
R7000:Acap3 UTSW 4 155,988,306 (GRCm39) missense possibly damaging 0.79
R7352:Acap3 UTSW 4 155,990,168 (GRCm39) missense possibly damaging 0.56
R7442:Acap3 UTSW 4 155,990,078 (GRCm39) missense probably damaging 0.98
R8722:Acap3 UTSW 4 155,990,415 (GRCm39) makesense probably null
R8810:Acap3 UTSW 4 155,990,169 (GRCm39) missense probably damaging 1.00
R8902:Acap3 UTSW 4 155,990,371 (GRCm39) missense possibly damaging 0.67
R9182:Acap3 UTSW 4 155,989,892 (GRCm39) missense probably damaging 1.00
R9255:Acap3 UTSW 4 155,990,145 (GRCm39) missense probably benign 0.07
RF008:Acap3 UTSW 4 155,989,555 (GRCm39) small insertion probably benign
RF010:Acap3 UTSW 4 155,989,553 (GRCm39) small insertion probably benign
RF013:Acap3 UTSW 4 155,989,553 (GRCm39) small insertion probably benign
RF022:Acap3 UTSW 4 155,989,553 (GRCm39) small insertion probably benign
RF025:Acap3 UTSW 4 155,989,559 (GRCm39) small insertion probably benign
RF028:Acap3 UTSW 4 155,989,548 (GRCm39) small insertion probably benign
RF032:Acap3 UTSW 4 155,989,559 (GRCm39) small insertion probably benign
RF034:Acap3 UTSW 4 155,989,549 (GRCm39) small insertion probably benign
RF035:Acap3 UTSW 4 155,989,548 (GRCm39) small insertion probably benign
RF036:Acap3 UTSW 4 155,989,544 (GRCm39) small insertion probably benign
RF038:Acap3 UTSW 4 155,989,549 (GRCm39) small insertion probably benign
RF039:Acap3 UTSW 4 155,989,549 (GRCm39) small insertion probably benign
RF041:Acap3 UTSW 4 155,989,557 (GRCm39) small insertion probably benign
RF064:Acap3 UTSW 4 155,989,557 (GRCm39) small insertion probably benign
Z1176:Acap3 UTSW 4 155,989,636 (GRCm39) missense probably damaging 1.00
Z1177:Acap3 UTSW 4 155,989,975 (GRCm39) missense probably damaging 1.00
Posted On 2013-07-11