Incidental Mutation 'R4562:Acap1'
ID 343155
Institutional Source Beutler Lab
Gene Symbol Acap1
Ensembl Gene ENSMUSG00000001588
Gene Name ArfGAP with coiled-coil, ankyrin repeat and PH domains 1
Synonyms Centb1
MMRRC Submission 041787-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4562 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 69772393-69786365 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 69776177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001631] [ENSMUST00000050555] [ENSMUST00000108622]
AlphaFold Q8K2H4
Predicted Effect probably benign
Transcript: ENSMUST00000001631
SMART Domains Protein: ENSMUSP00000001631
Gene: ENSMUSG00000001588

DomainStartEndE-ValueType
Pfam:BAR_3 5 240 2.1e-68 PFAM
PH 266 362 4.42e-15 SMART
ArfGap 405 527 2.42e-50 SMART
ANK 606 635 4.01e0 SMART
ANK 639 668 3.04e0 SMART
ANK 672 702 4.18e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000050555
SMART Domains Protein: ENSMUSP00000059107
Gene: ENSMUSG00000046731

DomainStartEndE-ValueType
Pfam:BTB_2 1 73 1.8e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108622
SMART Domains Protein: ENSMUSP00000104262
Gene: ENSMUSG00000001588

DomainStartEndE-ValueType
PH 78 174 4.42e-15 SMART
ArfGap 217 339 2.42e-50 SMART
ANK 418 447 4.01e0 SMART
ANK 451 480 3.04e0 SMART
ANK 484 514 4.18e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127238
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198919
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 G A 3: 36,120,331 (GRCm39) R25K probably benign Het
Aox1 T C 1: 58,098,215 (GRCm39) L309P probably damaging Het
Asap2 A G 12: 21,162,094 (GRCm39) D17G probably damaging Het
Atp8b1 A T 18: 64,689,962 (GRCm39) V590D probably damaging Het
Bace2 G A 16: 97,223,180 (GRCm39) R368Q probably damaging Het
Cad G A 5: 31,215,477 (GRCm39) S96N possibly damaging Het
Csmd3 T C 15: 47,763,240 (GRCm39) T1303A probably benign Het
Defa24 A G 8: 22,224,523 (GRCm39) probably benign Het
Dffb A G 4: 154,049,913 (GRCm39) C317R probably damaging Het
Erap1 T C 13: 74,821,778 (GRCm39) V711A probably benign Het
Esco1 A G 18: 10,595,074 (GRCm39) S71P possibly damaging Het
Evpl G A 11: 116,124,225 (GRCm39) T198M possibly damaging Het
Gm10797 A G 10: 67,408,515 (GRCm39) noncoding transcript Het
Gm10822 C T 2: 73,729,833 (GRCm39) noncoding transcript Het
Huwe1 A T X: 150,646,955 (GRCm39) I682F probably damaging Het
Ift22 A G 5: 136,941,724 (GRCm39) E152G probably benign Het
Ighv3-5 T A 12: 114,226,498 (GRCm39) T25S possibly damaging Het
Ivl CCTGCTGCTGCT CCTGCTGCTGCTGCT 3: 92,479,262 (GRCm39) probably benign Het
Kcna5 T C 6: 126,511,303 (GRCm39) H275R probably benign Het
Kdm7a C T 6: 39,129,757 (GRCm39) R473Q probably damaging Het
Klf14 G A 6: 30,935,394 (GRCm39) A80V probably damaging Het
Lrrc71 T A 3: 87,652,715 (GRCm39) probably benign Het
Lypd8 T A 11: 58,273,215 (GRCm39) probably null Het
Mef2b G A 8: 70,619,918 (GRCm39) D345N probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mtmr10 C T 7: 63,963,907 (GRCm39) T214M possibly damaging Het
Or10g9b A G 9: 39,917,577 (GRCm39) S223P probably damaging Het
Or13g1 A G 7: 85,956,360 (GRCm39) probably benign Het
Or4f4b A T 2: 111,313,909 (GRCm39) M45L probably benign Het
Orc1 T C 4: 108,459,252 (GRCm39) probably null Het
P4htm T C 9: 108,459,195 (GRCm39) S246G probably null Het
Pax2 A G 19: 44,824,402 (GRCm39) Y374C unknown Het
Pde6b A G 5: 108,551,234 (GRCm39) K173E probably benign Het
Pde8a T A 7: 80,958,568 (GRCm39) Y315* probably null Het
Plekhh2 A G 17: 84,873,525 (GRCm39) D270G probably benign Het
Prr5 A C 15: 84,626,114 (GRCm39) D63A probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Ryr1 C A 7: 28,774,005 (GRCm39) probably benign Het
Slc4a1ap G A 5: 31,689,373 (GRCm39) V347M probably damaging Het
Tasor A G 14: 27,188,265 (GRCm39) T904A possibly damaging Het
Tln1 C A 4: 43,533,598 (GRCm39) A2319S probably damaging Het
Tm6sf1 G A 7: 81,509,209 (GRCm39) A5T probably damaging Het
Tmem117 A T 15: 94,992,677 (GRCm39) M446L probably benign Het
Tnfrsf22 C T 7: 143,203,313 (GRCm39) R19Q unknown Het
Tnfsf11 T C 14: 78,516,020 (GRCm39) D316G probably damaging Het
Trerf1 G A 17: 47,637,997 (GRCm39) noncoding transcript Het
Ttc13 A G 8: 125,402,016 (GRCm39) L657P probably damaging Het
Unc79 C T 12: 102,957,720 (GRCm39) T45I probably damaging Het
Usp3 G T 9: 66,428,047 (GRCm39) probably benign Het
Vmn2r-ps158 C T 7: 42,672,986 (GRCm39) Q130* probably null Het
Wdr31 A C 4: 62,372,159 (GRCm39) L319W probably damaging Het
Zfp947 G T 17: 22,365,124 (GRCm39) Y183* probably null Het
Other mutations in Acap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Acap1 APN 11 69,773,517 (GRCm39) missense possibly damaging 0.95
IGL01148:Acap1 APN 11 69,781,729 (GRCm39) nonsense probably null
IGL01398:Acap1 APN 11 69,772,548 (GRCm39) missense probably damaging 1.00
IGL01583:Acap1 APN 11 69,772,503 (GRCm39) missense probably damaging 1.00
IGL02002:Acap1 APN 11 69,775,286 (GRCm39) missense probably damaging 1.00
IGL02078:Acap1 APN 11 69,786,112 (GRCm39) missense probably damaging 1.00
IGL02083:Acap1 APN 11 69,780,336 (GRCm39) missense possibly damaging 0.74
IGL02535:Acap1 APN 11 69,773,520 (GRCm39) missense probably benign 0.02
IGL02669:Acap1 APN 11 69,785,421 (GRCm39) unclassified probably benign
IGL03125:Acap1 APN 11 69,777,864 (GRCm39) missense probably damaging 1.00
autobot UTSW 11 69,772,548 (GRCm39) missense probably damaging 1.00
Drone UTSW 11 69,781,297 (GRCm39) missense probably benign 0.21
R0127:Acap1 UTSW 11 69,778,043 (GRCm39) splice site probably benign
R0243:Acap1 UTSW 11 69,776,252 (GRCm39) missense probably damaging 0.98
R0604:Acap1 UTSW 11 69,775,451 (GRCm39) missense probably benign 0.01
R0863:Acap1 UTSW 11 69,777,882 (GRCm39) missense probably damaging 0.98
R1331:Acap1 UTSW 11 69,773,202 (GRCm39) splice site probably null
R1911:Acap1 UTSW 11 69,772,548 (GRCm39) missense probably damaging 1.00
R1994:Acap1 UTSW 11 69,780,324 (GRCm39) missense probably benign 0.41
R2411:Acap1 UTSW 11 69,776,311 (GRCm39) missense probably damaging 1.00
R2442:Acap1 UTSW 11 69,780,317 (GRCm39) missense possibly damaging 0.46
R2910:Acap1 UTSW 11 69,777,902 (GRCm39) splice site probably benign
R4164:Acap1 UTSW 11 69,780,863 (GRCm39) missense probably benign 0.22
R4223:Acap1 UTSW 11 69,774,511 (GRCm39) missense probably damaging 0.99
R4676:Acap1 UTSW 11 69,780,294 (GRCm39) missense probably benign 0.22
R4852:Acap1 UTSW 11 69,775,202 (GRCm39) missense probably benign 0.30
R4921:Acap1 UTSW 11 69,778,019 (GRCm39) missense probably damaging 0.98
R4928:Acap1 UTSW 11 69,776,641 (GRCm39) missense possibly damaging 0.81
R5536:Acap1 UTSW 11 69,780,133 (GRCm39) missense probably benign 0.11
R5886:Acap1 UTSW 11 69,775,162 (GRCm39) missense probably benign
R6053:Acap1 UTSW 11 69,777,896 (GRCm39) critical splice acceptor site probably null
R6196:Acap1 UTSW 11 69,777,893 (GRCm39) missense probably damaging 0.98
R6220:Acap1 UTSW 11 69,780,505 (GRCm39) missense probably damaging 0.99
R6295:Acap1 UTSW 11 69,781,413 (GRCm39) critical splice donor site probably null
R6333:Acap1 UTSW 11 69,774,427 (GRCm39) missense possibly damaging 0.65
R6414:Acap1 UTSW 11 69,775,162 (GRCm39) missense probably benign
R6848:Acap1 UTSW 11 69,775,487 (GRCm39) missense probably damaging 1.00
R6952:Acap1 UTSW 11 69,776,343 (GRCm39) missense probably benign 0.30
R7243:Acap1 UTSW 11 69,781,297 (GRCm39) missense probably benign 0.21
R8066:Acap1 UTSW 11 69,780,689 (GRCm39) missense probably benign 0.05
R8691:Acap1 UTSW 11 69,781,003 (GRCm39) missense probably damaging 0.99
R8704:Acap1 UTSW 11 69,773,489 (GRCm39) missense possibly damaging 0.49
R9032:Acap1 UTSW 11 69,772,491 (GRCm39) missense probably damaging 1.00
R9233:Acap1 UTSW 11 69,775,484 (GRCm39) missense probably benign 0.00
R9397:Acap1 UTSW 11 69,775,672 (GRCm39) missense probably damaging 1.00
X0012:Acap1 UTSW 11 69,772,515 (GRCm39) missense probably damaging 1.00
X0027:Acap1 UTSW 11 69,772,549 (GRCm39) missense probably damaging 1.00
Z1177:Acap1 UTSW 11 69,773,269 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGGGGCTTTCTAGGATCTCAC -3'
(R):5'- CTCAGGTCTCAGGATACCATGC -3'

Sequencing Primer
(F):5'- GGGCTTTCTAGGATCTCACAACCC -3'
(R):5'- TGCAACTCTGGCCTGTG -3'
Posted On 2015-09-24