Incidental Mutation 'R2898:Acap3'
ID 261343
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 040486-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R2898 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 155976332-155991708 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to C at 155989388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079031] [ENSMUST00000079031] [ENSMUST00000105584]
AlphaFold Q6NXL5
Predicted Effect probably null
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 null
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 null
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: ENSMUST00000131372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137726
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140855
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140902
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145654
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik C T X: 77,413,868 (GRCm39) Q198* probably null Het
Adcy6 A G 15: 98,491,369 (GRCm39) S1075P probably damaging Het
Ankk1 T A 9: 49,333,122 (GRCm39) T121S probably benign Het
Bnc2 T C 4: 84,211,152 (GRCm39) I406V probably damaging Het
Bnipl T A 3: 95,150,360 (GRCm39) H219L probably benign Het
Brwd1 C A 16: 95,867,300 (GRCm39) M178I probably damaging Het
Cep192 T A 18: 67,988,341 (GRCm39) probably null Het
Chd5 T C 4: 152,456,572 (GRCm39) F970L probably damaging Het
Cit A G 5: 116,012,037 (GRCm39) probably null Het
Coq9 T C 8: 95,579,752 (GRCm39) Y236H probably damaging Het
Cxcr2 T C 1: 74,198,130 (GRCm39) V208A probably benign Het
Dnah10 G A 5: 124,894,734 (GRCm39) R3433H probably damaging Het
Dnmt3b G T 2: 153,509,550 (GRCm39) V268L possibly damaging Het
Fbxw21 T C 9: 108,985,404 (GRCm39) T125A possibly damaging Het
Fzd9 T G 5: 135,278,700 (GRCm39) D395A probably damaging Het
Gfm2 T C 13: 97,309,469 (GRCm39) V642A possibly damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Hid1 A G 11: 115,241,356 (GRCm39) S645P probably benign Het
Hmgxb3 C T 18: 61,288,368 (GRCm39) V500M probably benign Het
Hnf1a C T 5: 115,098,106 (GRCm39) W165* probably null Het
Hsd3b1 A T 3: 98,760,623 (GRCm39) C123S probably benign Het
Inpp4a A T 1: 37,405,675 (GRCm39) H148L probably benign Het
Itpr2 C T 6: 146,074,839 (GRCm39) R2338Q probably benign Het
Itpr2 A T 6: 146,224,667 (GRCm39) I1441N probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lmo7 A G 14: 102,114,350 (GRCm39) T31A possibly damaging Het
Lrrc15 C T 16: 30,092,604 (GRCm39) R245H probably benign Het
Lrriq1 T C 10: 103,063,111 (GRCm39) N65S probably damaging Het
Mpp4 T C 1: 59,183,853 (GRCm39) I296V probably benign Het
Myo6 T A 9: 80,176,893 (GRCm39) probably null Het
Myo7a G T 7: 97,703,631 (GRCm39) Y2003* probably null Het
Myo7a T C 7: 97,746,413 (GRCm39) N246D probably damaging Het
Ndrg4 A G 8: 96,405,014 (GRCm39) probably null Het
Neu2 A G 1: 87,522,782 (GRCm39) S72G probably benign Het
Or51g1 T A 7: 102,634,084 (GRCm39) I96F probably benign Het
Or8b1c T C 9: 38,384,271 (GRCm39) V76A probably damaging Het
Pcdhb1 A G 18: 37,399,516 (GRCm39) Y489C probably damaging Het
Ppp1r10 A G 17: 36,239,784 (GRCm39) K501R probably damaging Het
Ppp1r9a C T 6: 4,906,558 (GRCm39) T371I probably benign Het
Prpf8 A T 11: 75,386,860 (GRCm39) T1102S probably benign Het
Ric8b T G 10: 84,783,761 (GRCm39) D206E probably benign Het
Sacm1l T C 9: 123,389,666 (GRCm39) probably null Het
Sema6c C A 3: 95,080,129 (GRCm39) L776M probably damaging Het
Serpinb8 A G 1: 107,534,776 (GRCm39) T32A unknown Het
Sh2b3 A T 5: 121,967,111 (GRCm39) M1K probably null Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Spty2d1 T A 7: 46,643,100 (GRCm39) M664L unknown Het
Stk36 T A 1: 74,671,984 (GRCm39) S895T probably null Het
Sycp3 G A 10: 88,308,544 (GRCm39) E205K possibly damaging Het
Taok3 A G 5: 117,338,134 (GRCm39) probably null Het
Tasor2 T C 13: 3,635,122 (GRCm39) N562D possibly damaging Het
Tbc1d16 A T 11: 119,048,654 (GRCm39) I333N probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Thumpd2 C T 17: 81,351,557 (GRCm39) W288* probably null Het
Tnks2 T C 19: 36,849,990 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpm1 T C 9: 66,938,322 (GRCm39) D254G probably damaging Het
Usp53 A T 3: 122,751,223 (GRCm39) L278* probably null Het
Zfp37 C T 4: 62,110,014 (GRCm39) G350D probably damaging Het
Zfp777 C T 6: 48,002,594 (GRCm39) E543K probably damaging Het
Zfp81 A T 17: 33,553,274 (GRCm39) C513* probably null 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
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
Predicted Primers PCR Primer
(F):5'- ACTCCAGTAAAGGGTGGGTG -3'
(R):5'- TTGACTTCAGCTCCATGGGC -3'

Sequencing Primer
(F):5'- GGGGCTTCAGCTTTTTCTCCAC -3'
(R):5'- TACGAGCTGCCTGATGTGC -3'
Posted On 2015-01-23