Incidental Mutation 'R6220:Acap1'
ID 503962
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 044352-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6220 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 69772393-69786365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69780505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 15 (F15S)
Ref Sequence ENSEMBL: ENSMUSP00000104262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001631] [ENSMUST00000108622]
AlphaFold Q8K2H4
Predicted Effect probably damaging
Transcript: ENSMUST00000001631
AA Change: F203S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000001631
Gene: ENSMUSG00000001588
AA Change: F203S

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 damaging
Transcript: ENSMUST00000108622
AA Change: F15S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104262
Gene: ENSMUSG00000001588
AA Change: F15S

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
Meta Mutation Damage Score 0.9191 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b A G 2: 181,135,578 (GRCm39) D160G probably damaging Het
Adam30 A T 3: 98,068,625 (GRCm39) S153C probably damaging Het
Afp A T 5: 90,652,269 (GRCm39) D420V possibly damaging Het
Ak9 T A 10: 41,246,095 (GRCm39) H729Q unknown Het
Armh3 T C 19: 45,834,554 (GRCm39) E618G possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Bcr A G 10: 74,898,124 (GRCm39) T423A probably benign Het
Cc2d1b C T 4: 108,490,422 (GRCm39) R825W probably damaging Het
Ctns T C 11: 73,083,954 (GRCm39) T23A probably benign Het
Ddx54 T A 5: 120,758,754 (GRCm39) N332K probably benign Het
Dysf T A 6: 84,126,727 (GRCm39) I1344N probably damaging Het
Elovl3 A T 19: 46,122,939 (GRCm39) M172L probably benign Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Filip1l T A 16: 57,390,352 (GRCm39) N313K probably benign Het
Foxp2 C A 6: 15,437,947 (GRCm39) T716K probably damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm10645 A G 8: 83,892,386 (GRCm39) probably benign Het
Gm10735 T C 13: 113,178,030 (GRCm39) probably benign Het
Gm4847 A T 1: 166,462,541 (GRCm39) D316E probably damaging Het
Gorasp2 T C 2: 70,521,134 (GRCm39) L388P probably damaging Het
Heatr5b A G 17: 79,081,106 (GRCm39) L1382P probably damaging Het
Herc1 A G 9: 66,341,070 (GRCm39) Y1729C probably damaging Het
Ifi207 A T 1: 173,557,112 (GRCm39) L542H probably damaging Het
Ighv3-5 T A 12: 114,226,338 (GRCm39) N96I probably damaging Het
Isl1 T C 13: 116,439,803 (GRCm39) T182A probably benign Het
Jph4 T C 14: 55,347,542 (GRCm39) E421G probably benign Het
Lrrc45 T C 11: 120,610,353 (GRCm39) I488T probably benign Het
Mroh8 A G 2: 157,075,083 (GRCm39) I471T probably benign Het
Ms4a2 A T 19: 11,594,927 (GRCm39) D96E probably damaging Het
Mst1r T A 9: 107,784,547 (GRCm39) N68K probably benign Het
Myo18b A G 5: 112,905,373 (GRCm39) M2075T possibly damaging Het
Neb T C 2: 52,160,984 (GRCm39) K2229R probably null Het
Nkx6-3 T A 8: 23,643,987 (GRCm39) probably null Het
Nlrp1a C A 11: 71,033,164 (GRCm39) S10I probably benign Het
Npas2 A T 1: 39,375,142 (GRCm39) T487S probably benign Het
Nrxn1 G C 17: 91,395,904 (GRCm39) T84R probably benign Het
Or4k2 C A 14: 50,424,135 (GRCm39) D180Y probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdh18 A G 3: 49,699,700 (GRCm39) C921R probably damaging Het
Pcdha9 A G 18: 37,131,531 (GRCm39) Y200C probably damaging Het
Pknox1 A T 17: 31,822,177 (GRCm39) R315* probably null Het
Rasgrp1 C T 2: 117,115,410 (GRCm39) W726* probably null Het
Rassf8 G A 6: 145,762,859 (GRCm39) R402H probably damaging Het
Rev3l T A 10: 39,698,775 (GRCm39) Y1091N probably damaging Het
Riok3 T G 18: 12,282,608 (GRCm39) V349G probably damaging Het
Rps18 A T 17: 34,174,110 (GRCm39) V15E probably damaging Het
Rptor A T 11: 119,788,268 (GRCm39) Y1323F possibly damaging Het
Rspry1 T C 8: 95,385,378 (GRCm39) C437R probably damaging Het
Sema5a T A 15: 32,686,875 (GRCm39) Y996N probably damaging Het
Smarcad1 A G 6: 65,091,313 (GRCm39) I1011M probably benign Het
Supv3l1 A T 10: 62,274,800 (GRCm39) M295K possibly damaging Het
Sv2c T C 13: 96,113,134 (GRCm39) D605G probably damaging Het
Teddm1b G A 1: 153,750,947 (GRCm39) W252* probably null Het
Tes T A 6: 17,086,195 (GRCm39) C29* probably null Het
Thsd4 A G 9: 59,890,030 (GRCm39) W856R probably damaging Het
Treml4 A T 17: 48,571,876 (GRCm39) D93V possibly damaging Het
Trim66 T C 7: 109,082,300 (GRCm39) T218A probably damaging Het
Tssk5 T C 15: 76,257,973 (GRCm39) D128G probably damaging Het
Ubr3 T A 2: 69,850,819 (GRCm39) W1746R probably damaging Het
Vmn2r11 T C 5: 109,201,434 (GRCm39) I357V probably benign Het
Vmn2r87 A T 10: 130,315,807 (GRCm39) D86E probably benign Het
Zfp184 T G 13: 22,144,377 (GRCm39) H694Q probably damaging Het
Zranb3 A C 1: 127,927,141 (GRCm39) F341L probably benign 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
R4562:Acap1 UTSW 11 69,776,177 (GRCm39) intron probably benign
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
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'- TCTTCTGTCGAGCTGAGTTC -3'
(R):5'- GGCCTTCAGGTCAATGTGATTG -3'

Sequencing Primer
(F):5'- TTCAAGACCAGGTTGTGCAACTG -3'
(R):5'- TTGAGGATAAGAGGAAGTTTGACATC -3'
Posted On 2018-02-27