Incidental Mutation 'RF036:Acap3'
ID 604576
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 # RF036 (G1)
Quality Score 217.468
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) G to GGGCTGCATCCTGGGC at 155989544 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: 99.3%
  • 20x: 98.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T TCCCTG 17: 24,506,701 (GRCm39) probably benign Het
Adgra3 GGCCGC GGC 5: 50,215,983 (GRCm39) probably benign Het
Blm CCTCCTCCTCCT CCTCCTCCTCCTACTCCTCCTCCT 7: 80,162,662 (GRCm39) probably null Het
Calhm1 C CTGTGGCTGTGGG 19: 47,129,716 (GRCm39) probably benign Het
Cdx1 CTGCTG CTGCTGTTGCTG 18: 61,152,942 (GRCm39) probably benign Het
Cherp ACCTGGACC AC 8: 73,215,888 (GRCm39) probably null Het
Cherp TGGACC T 8: 73,215,891 (GRCm39) probably null Het
Cyb5r4 CAGACACACTGCC CAGACACACTGCCTAGGGATGTGATAGACACACTGCC 9: 86,922,483 (GRCm39) probably benign Het
Dcdc2b GCTGC GCTGCCAGGCCTGC 4: 129,503,444 (GRCm39) probably benign Het
Fam171b GCAGC GCAGCAACAGC 2: 83,643,236 (GRCm39) probably benign Het
Foxd3 GGACCCTACGGCCG GG 4: 99,545,633 (GRCm39) probably benign Het
Fsip2 TTTT TTTTTCTTT 2: 82,814,707 (GRCm39) probably benign Het
Gm8369 GTGTGT GTGTGTATGTGT 19: 11,489,142 (GRCm39) probably benign Het
Il2 GTGG GTGGGGCTTGAATTGG 3: 37,179,976 (GRCm39) probably benign Het
Iqcf4 TCCTTTTCCTTTT TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTT 9: 106,447,810 (GRCm39) probably benign Het
Ivl TGCTGCTGCTGCTGC T 3: 92,479,648 (GRCm39) probably null Het
Kif12 C CCTCCACCCGGCGGGT 4: 63,089,664 (GRCm39) probably benign Het
Lkaaear1 CCAGCTCCAGCT CCAGCTCCAGCTACAGCTCCAGCT 2: 181,339,381 (GRCm39) probably benign Het
Lrtm1 TAGCCTCAGTGGCC T 14: 28,743,400 (GRCm39) probably null Het
Mamld1 CAG CAGAAG X: 70,162,446 (GRCm39) probably benign Het
Mamld1 CAG CAGGAG X: 70,162,434 (GRCm39) probably benign Het
Mamld1 AGC AGCCGC X: 70,162,441 (GRCm39) probably benign Het
Morn4 GTGAG GTGAGTCAGGCAATGAG 19: 42,064,553 (GRCm39) probably null Het
Nefh GGGAC GGGACGTGGCATCACCTGTGGAC 11: 4,891,048 (GRCm39) probably benign Het
Nefh TGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC TGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,010 (GRCm39) probably benign Het
Nefh CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,016 (GRCm39) probably benign Het
Nefh TGGCCTC TGGCCTCGCCTGGGGACTGGGCCTC 11: 4,891,036 (GRCm39) probably benign Het
Nusap1 TTAGCAGTGAGGAGCA TTAGCAGTGAGGAGCACGCTGAGATACACGCTAGCAGTGAGGAGCA 2: 119,458,068 (GRCm39) probably benign Het
Nusap1 TGAGGAGCAAGCTGAGA TGAGGAGCAAGCTGAGATACACGTTAGCAGGGAGGAGCAAGCTGAGA 2: 119,458,075 (GRCm39) probably benign Het
Or10j2 GTGACATC G 1: 173,098,276 (GRCm39) probably null Het
Phc1 CTTGCTG CTTGCTGTTGCTG 6: 122,300,539 (GRCm39) probably benign Het
Rassf6 TCATGGTCCTGTAGAGCAATGGGGATTC TCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACGCATGGTCCTGTAGAGCAATGGGGATTC 5: 90,756,774 (GRCm39) probably benign Het
Rnf144a TCTCTCTCTC TCTCTCTCTCTCTCTCACTCTCTCTC 12: 26,364,007 (GRCm39) probably benign Het
Rnf144a CTCTC CTCTCTCTCTCTCTCTATCTC 12: 26,364,012 (GRCm39) probably benign Het
Rpgrip1 AGAGGAAG A 14: 52,386,998 (GRCm39) probably null Het
Rsf1 CG CGATG 7: 97,229,115 (GRCm39) probably benign Het
Setd1a GTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG GTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG 7: 127,384,472 (GRCm39) probably benign Het
Spmap2l G GCGATCCTCCCCAGTCCCGCAAGGCCAT 5: 77,164,276 (GRCm39) probably benign Het
Stat1 G T 1: 52,191,419 (GRCm39) E591D probably benign Het
Strn CTTACCCCAGTC CTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCATTACCCCAGTC 17: 78,984,706 (GRCm39) probably null Het
Tcof1 CT CTAGT 18: 60,961,480 (GRCm39) probably benign Het
Tcof1 AGC AGCGGC 18: 60,968,808 (GRCm39) probably benign Het
Tfeb GCA GCACCA 17: 48,097,028 (GRCm39) probably benign Het
Tomm5 GCATCTTCC GCATCTTCCACATCTTCC 4: 45,107,973 (GRCm39) probably benign Het
Trappc9 GCTGCTGCTGCT GCTGCTGCTGCTGCTTCTGCTGCTGCT 15: 72,673,169 (GRCm39) probably benign Het
Ubtf CTTC CTTCTTC 11: 102,197,771 (GRCm39) probably benign Het
Usp2 ACTTAC ACTTACTCATGTGACCCGTTCTTCCCTTAC 9: 44,000,421 (GRCm39) probably benign 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
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
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'- TCTGATGGCAGTTCAGATGTTC -3'
(R):5'- TTCATATAAGCCCTGCCTGTG -3'

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