Incidental Mutation 'RF010:Acap3'
ID 603122
Institutional Source Beutler Lab
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 # RF010 (G1)
Quality Score 214.724
Status Not validated
Chromosome 4
Chromosomal Location 155976332-155991708 bp(+) (GRCm39)
Type of Mutation small insertion (5 aa in frame mutation)
DNA Base Change (assembly) CCTGGGCTGCTG to CCTGGGCTGCTGCATACTGGGCTGCTG at 155989553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079031] [ENSMUST00000105584]
AlphaFold Q6NXL5
Predicted Effect probably benign
Transcript: ENSMUST00000079031
SMART Domains Protein: ENSMUSP00000078040
Gene: ENSMUSG00000029033

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 benign
Transcript: ENSMUST00000105584
SMART Domains Protein: ENSMUSP00000101209
Gene: ENSMUSG00000029033

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik GGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG GGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG 17: 35,879,473 (GRCm39) probably benign Het
Ankrd28 A G 14: 31,500,943 (GRCm39) I16T probably damaging Het
AY761185 GCACTGTGGGC G 8: 21,433,927 (GRCm39) probably null Het
Bend3 T A 10: 43,386,180 (GRCm39) F191Y possibly damaging Het
Calhm1 GTGGC GTGGCTGTGGCTATGGC 19: 47,129,712 (GRCm39) probably benign Het
Camkv CGCTGCTGC CGC 9: 107,825,059 (GRCm39) probably benign Het
Cfap251 TCTCA T 5: 123,412,224 (GRCm39) probably benign Het
Chga GCA GCATCA 12: 102,527,662 (GRCm39) probably benign Het
Cngb1 CTCTGGCTCTGGCTCTGGCTCTG C 8: 96,030,278 (GRCm39) probably null Het
Cnot3 T C 7: 3,659,068 (GRCm39) V438A probably benign Het
Cntnap5c T A 17: 58,593,790 (GRCm39) W710R probably damaging Het
Dyrk1a A G 16: 94,478,422 (GRCm39) S404G probably benign Het
Efhd2 GCCGCC GCCGCCTCCGCC 4: 141,602,075 (GRCm39) probably benign Het
Flywch1 GTGT GTGTGGGGAGGCTACGTACTCACCCACACCTGTTGT 17: 23,981,149 (GRCm39) probably null Het
Fmn2 T A 1: 174,409,581 (GRCm39) S605T unknown Het
Gab3 TCT TCTGCT X: 74,043,617 (GRCm39) probably benign Het
Gabre GCTC GCTCCGTCTC X: 71,313,666 (GRCm39) probably benign Het
Gli3 A G 13: 15,900,954 (GRCm39) Y1447C probably damaging Het
Hibch T C 1: 52,952,891 (GRCm39) V297A probably benign Het
Ifi213 C G 1: 173,409,719 (GRCm39) D462H probably damaging Het
Kcnh8 G A 17: 53,285,267 (GRCm39) R1079H probably benign Het
Lce1m GCTGCTGCC GCTGCTGCCCCCACTGCTGCC 3: 92,925,597 (GRCm39) probably benign Het
Lpo A G 11: 87,711,928 (GRCm39) V43A probably benign Het
Map1a A AGCTCCAGCTCCAGCCCCACCTCCAGCTCCC 2: 121,136,799 (GRCm39) probably benign Het
Mapk9 A G 11: 49,745,083 (GRCm39) probably benign Het
Mep1a G A 17: 43,797,126 (GRCm39) H314Y probably damaging Het
Myh3 ATTAC ATTACTTAC 11: 66,977,182 (GRCm39) probably null Het
Myh3 AC ACTTCC 11: 66,977,185 (GRCm39) probably null Het
Nusap1 ACGTTAGCAGTGAGGAGCAA ACGTTAGCAGTGAGGAGCAAACTGAGATACTCGTTAGCAGTGAGGAGCAA 2: 119,458,065 (GRCm39) probably benign Het
Or10ag56 T A 2: 87,139,184 (GRCm39) V37E possibly damaging Het
Or14a259 T C 7: 86,012,594 (GRCm39) Q317R probably benign Het
Pdcd11 AGGAGG A 19: 47,101,890 (GRCm39) probably null Het
Pfkm T A 15: 98,027,674 (GRCm39) I651N possibly damaging Het
Phldb3 CCCCCGCCCC CCCCC 7: 24,325,920 (GRCm39) probably null Het
Polr1has CACCACCAC CACCACCACCACCACCACCACTACCACCAC 17: 37,275,955 (GRCm39) probably benign Het
Prkce T C 17: 86,795,627 (GRCm39) V288A probably damaging Het
Pxmp4 A G 2: 154,434,183 (GRCm39) S93P probably damaging Het
Rfc4 T C 16: 22,946,232 (GRCm39) T17A probably benign Het
Rfx4 CTCTCTCT CTCTCTCTCTCTCTCTATCTCTCT 10: 84,694,351 (GRCm39) probably benign Het
Ryr3 G T 2: 112,606,015 (GRCm39) A2415E probably damaging Het
Sbp ACAAAGATGCTGACAACAAAGATGCTGACA ACAAAGATGCTGACACCAAAGATGCTGACAACAAAGATGCTGACA 17: 24,164,325 (GRCm39) probably benign Het
Sec24c T A 14: 20,738,783 (GRCm39) probably null Het
Sec63 C A 10: 42,682,620 (GRCm39) A437E probably benign Het
Six3 GCG GCGTCG 17: 85,928,783 (GRCm39) probably benign Het
Slco5a1 G A 1: 12,942,171 (GRCm39) T825I probably damaging Het
Spmap2l CAG CAGCGATCCTCCCCAGTCCCGCAAGGCGAG 5: 77,164,274 (GRCm39) probably benign Het
Stard8 GGA GGAAGA X: 98,110,123 (GRCm39) probably benign Het
Stxbp1 A G 2: 32,711,927 (GRCm39) V30A probably benign Het
Supt20 AGCAGC AGCAGCGGCAGC 3: 54,635,083 (GRCm39) probably benign Het
Syne1 T A 10: 5,196,386 (GRCm39) D3882V possibly damaging Het
T A G 17: 8,660,540 (GRCm39) T384A probably benign Het
Tbc1d12 CGGGGCGG CG 19: 38,825,384 (GRCm39) probably benign Het
Tcof1 CAG CAGAAG 18: 60,968,816 (GRCm39) probably benign Het
Tcstv5 A T 13: 120,411,582 (GRCm39) V8E probably benign Het
Tfeb GCA GCAACA 17: 48,097,019 (GRCm39) probably benign Het
Tfeb CAG CAGAAG 17: 48,097,032 (GRCm39) probably benign Het
Thumpd3 C T 6: 113,033,006 (GRCm39) A248V probably damaging Het
Tlcd4 T A 3: 121,022,533 (GRCm39) I103L probably benign Het
Tmem181a T C 17: 6,330,978 (GRCm39) probably null Het
Trim41 A T 11: 48,698,165 (GRCm39) H600Q probably damaging Het
Ttbk2 A T 2: 120,620,820 (GRCm39) C147* probably null Het
Ttll2 C T 17: 7,618,737 (GRCm39) A397T probably benign Het
Unc79 T A 12: 103,079,046 (GRCm39) L1737Q probably benign Het
Usp47 T A 7: 111,692,145 (GRCm39) V869E probably damaging Het
Vmn1r231 T A 17: 21,110,255 (GRCm39) Q220L probably damaging Het
Vmn2r26 C T 6: 124,016,448 (GRCm39) T304I possibly damaging Het
Wrn T C 8: 33,778,793 (GRCm39) N839S probably benign Het
Zfp384 GCCCAGGCCCAGGCCCAGGCCCAG GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG 6: 125,013,434 (GRCm39) probably benign Het
Zfp384 GGCCCAGG GGCCCAGGAGCACGCCCAGG 6: 125,013,451 (GRCm39) probably benign Het
Zfyve26 C T 12: 79,302,112 (GRCm39) C1828Y probably damaging Het
Other mutations in Acap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Acap3 APN 4 155,986,676 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TCAGATGTTCTTGCCTTCGG -3'
(R):5'- ACACGTAGGTATGCAGTCTTG -3'

Sequencing Primer
(F):5'- AGTGGTGGACAGTGTCACC -3'
(R):5'- GTTTTTCATATAAGCCCTGCCTGTG -3'
Posted On 2019-12-04