Incidental Mutation 'R4822:Acap3'
ID 371198
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
MMRRC Submission 042438-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R4822 (G1)
Quality Score 81
Status Validated
Chromosome 4
Chromosomal Location 155976332-155991708 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 155986908 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
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: ENSMUST00000140902
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145654
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 98% (101/103)
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik C T 14: 70,393,907 (GRCm39) V243I probably benign Het
Acadvl C T 11: 69,902,010 (GRCm39) G485S probably benign Het
Adamts19 A G 18: 59,023,356 (GRCm39) I250M probably damaging Het
Amacr T A 15: 10,983,496 (GRCm39) I102N probably damaging Het
Apob A G 12: 8,065,741 (GRCm39) T4237A probably benign Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Bicd1 A T 6: 149,420,752 (GRCm39) probably benign Het
Caskin2 T A 11: 115,698,125 (GRCm39) E49V probably damaging Het
Cemip T A 7: 83,622,449 (GRCm39) I577F probably benign Het
Chrnb1 T C 11: 69,686,501 (GRCm39) S40G possibly damaging Het
Ctif C T 18: 75,654,632 (GRCm39) C298Y probably benign Het
Cul9 A C 17: 46,840,977 (GRCm39) H764Q probably benign Het
Cwf19l2 T A 9: 3,458,839 (GRCm39) C763S probably damaging Het
Dhx57 A T 17: 80,549,596 (GRCm39) probably null Het
Dnaaf10 T A 11: 17,177,165 (GRCm39) N174K probably damaging Het
Dnhd1 G A 7: 105,353,171 (GRCm39) D2775N probably benign Het
Enpp1 A T 10: 24,537,833 (GRCm39) M384K possibly damaging Het
Fat2 T C 11: 55,202,144 (GRCm39) N310S probably benign Het
Fbxw7 A T 3: 84,874,814 (GRCm39) Y232F possibly damaging Het
Fcamr T A 1: 130,740,423 (GRCm39) S281T possibly damaging Het
Gm10762 C T 2: 128,809,106 (GRCm39) W81* probably null Het
Gm5592 A G 7: 40,805,314 (GRCm39) probably benign Het
Gm5745 T C 9: 73,082,980 (GRCm39) noncoding transcript Het
Gm6185 G C 1: 161,040,824 (GRCm39) noncoding transcript Het
Hid1 T A 11: 115,246,125 (GRCm39) N382Y probably damaging Het
Hoxa10 A T 6: 52,209,569 (GRCm39) F68I probably damaging Het
Ift88 T A 14: 57,679,326 (GRCm39) probably null Het
Ighg2b A T 12: 113,270,011 (GRCm39) *336R probably null Het
Ighv7-2 A C 12: 113,875,892 (GRCm39) L37R probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnn3 G C 3: 89,574,596 (GRCm39) V703L possibly damaging Het
Kiz C A 2: 146,732,989 (GRCm39) S388R probably damaging Het
Klhl20 G A 1: 160,921,333 (GRCm39) Q41* probably null Het
Krt31 T C 11: 99,938,610 (GRCm39) I328V possibly damaging Het
Lama4 A T 10: 38,909,049 (GRCm39) I330L probably benign Het
Lipo2 A T 19: 33,723,151 (GRCm39) S213T probably benign Het
Lrsam1 A T 2: 32,816,804 (GRCm39) I723N probably damaging Het
Man2b2 G A 5: 36,972,865 (GRCm39) R550W probably damaging Het
Map4k5 A T 12: 69,888,758 (GRCm39) L224* probably null Het
Mast3 A G 8: 71,233,010 (GRCm39) S1101P probably damaging Het
Mertk A G 2: 128,643,225 (GRCm39) S875G probably benign Het
Mmel1 A G 4: 154,972,354 (GRCm39) M302V probably benign Het
Mrgpra3 T A 7: 47,239,716 (GRCm39) H70L possibly damaging Het
Myh3 T A 11: 66,979,836 (GRCm39) S592T probably benign Het
Nbeal2 T C 9: 110,465,383 (GRCm39) I451V possibly damaging Het
Nup155 T A 15: 8,158,010 (GRCm39) V489D possibly damaging Het
Obscn T A 11: 58,913,159 (GRCm39) T6300S probably benign Het
Oprm1 A G 10: 6,779,036 (GRCm39) I146V probably damaging Het
Or1ad1 T A 11: 50,875,910 (GRCm39) C127* probably null Het
Or1j4 A G 2: 36,740,888 (GRCm39) M277V probably benign Het
Or4k44 G T 2: 111,367,797 (GRCm39) T279K probably damaging Het
Or5ae1 A C 7: 84,565,634 (GRCm39) I216L possibly damaging Het
Otub1 A T 19: 7,181,794 (GRCm39) D27E probably damaging Het
Pik3ca T C 3: 32,492,131 (GRCm39) V243A probably benign Het
Pla2g12b G A 10: 59,252,336 (GRCm39) probably null Het
Plekha8 A G 6: 54,601,546 (GRCm39) D321G probably damaging Het
Pprc1 T C 19: 46,059,795 (GRCm39) probably benign Het
Prkdc A G 16: 15,468,576 (GRCm39) D129G possibly damaging Het
Rbms3 C T 9: 116,773,441 (GRCm39) probably benign Het
Rictor T A 15: 6,821,161 (GRCm39) V1495D probably benign Het
Rpl31-ps21 T C 5: 21,324,507 (GRCm39) noncoding transcript Het
Ryr3 A T 2: 112,483,090 (GRCm39) I4219N probably damaging Het
Sbf2 G A 7: 109,977,146 (GRCm39) probably benign Het
Scn10a C T 9: 119,467,738 (GRCm39) A801T probably damaging Het
Scn9a T A 2: 66,314,093 (GRCm39) Y1866F possibly damaging Het
Sec1 A C 7: 45,328,727 (GRCm39) Y107D probably damaging Het
Sema6d C T 2: 124,504,214 (GRCm39) T619M possibly damaging Het
Sh2b3 C A 5: 121,966,618 (GRCm39) probably benign Het
Slc2a4 A G 11: 69,837,413 (GRCm39) V44A probably damaging Het
Slc5a12 T C 2: 110,452,085 (GRCm39) I326T possibly damaging Het
Smarca5 T C 8: 81,435,309 (GRCm39) probably null Het
Smarcd2 A G 11: 106,157,357 (GRCm39) probably null Het
Snrpa1 A T 7: 65,719,321 (GRCm39) probably benign Het
Sptbn5 T G 2: 119,898,449 (GRCm39) K470Q probably benign Het
Stard9 T G 2: 120,526,422 (GRCm39) V893G possibly damaging Het
Stx8 T G 11: 67,864,099 (GRCm39) V53G possibly damaging Het
Sv2c A T 13: 96,122,457 (GRCm39) W440R probably damaging Het
Tcstv2a A T 13: 120,725,686 (GRCm39) T117S probably damaging Het
Tmem181a A T 17: 6,330,940 (GRCm39) I67F probably benign Het
Tmprss7 C T 16: 45,483,679 (GRCm39) C565Y probably damaging Het
Trafd1 A T 5: 121,516,561 (GRCm39) L109H probably damaging Het
Trpv4 A G 5: 114,768,083 (GRCm39) I422T possibly damaging Het
Usp24 T A 4: 106,273,244 (GRCm39) Y2210N probably damaging Het
Vmn1r236 A T 17: 21,507,202 (GRCm39) N107Y probably damaging Het
Vmn2r13 A T 5: 109,321,938 (GRCm39) I253K probably damaging Het
Vmn2r2 T A 3: 64,041,960 (GRCm39) I252F probably damaging Het
Vsig8 A G 1: 172,387,205 (GRCm39) D27G probably damaging Het
Wiz A T 17: 32,575,411 (GRCm39) Y908* probably null Het
Wnk1 A T 6: 119,939,399 (GRCm39) S1113T probably benign Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp691 G T 4: 119,027,764 (GRCm39) T156K probably damaging Het
Zfp791 A T 8: 85,837,035 (GRCm39) D276E 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
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
Predicted Primers PCR Primer
(F):5'- GTGTCACCTACCAAGTGAGGAG -3'
(R):5'- AGCTTGTCTCAACTCCCCAG -3'

Sequencing Primer
(F):5'- CTACCAAGTGAGGAGGCCCAG -3'
(R):5'- CAGAAGACCCCCAGTTAGAAGG -3'
Posted On 2016-03-01