Incidental Mutation 'IGL02002:Acap1'
ID183086
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acap1
Ensembl Gene ENSMUSG00000001588
Gene NameArfGAP with coiled-coil, ankyrin repeat and PH domains 1
SynonymsCentb1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02002
Quality Score
Status
Chromosome11
Chromosomal Location69881567-69895539 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 69884460 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 326 (Y326H)
Ref Sequence ENSEMBL: ENSMUSP00000104262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001631] [ENSMUST00000050555] [ENSMUST00000108622]
Predicted Effect probably damaging
Transcript: ENSMUST00000001631
AA Change: Y514H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001631
Gene: ENSMUSG00000001588
AA Change: Y514H

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 damaging
Transcript: ENSMUST00000108622
AA Change: Y326H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104262
Gene: ENSMUSG00000001588
AA Change: Y326H

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A T 7: 28,152,796 Y1248F probably damaging Het
Abcg5 G T 17: 84,682,051 Y76* probably null Het
Acadsb T A 7: 131,428,529 V135E probably damaging Het
Actl11 T A 9: 107,929,330 V284D probably benign Het
Adcy10 G T 1: 165,521,843 D428Y probably damaging Het
Akap8 A G 17: 32,309,496 C481R probably damaging Het
Amotl2 G A 9: 102,725,117 A26T probably damaging Het
Apob T C 12: 7,994,822 V814A probably benign Het
Casp8ap2 T A 4: 32,639,391 N148K probably damaging Het
Ccdc149 G A 5: 52,406,079 T124M probably damaging Het
Cd320 A G 17: 33,843,240 probably benign Het
Clca4b T C 3: 144,932,433 T23A probably benign Het
Col22a1 A G 15: 71,811,097 probably benign Het
Col24a1 T A 3: 145,356,944 F675I possibly damaging Het
Col6a3 A G 1: 90,782,136 probably benign Het
Dap3 A T 3: 88,936,228 M19K probably benign Het
Dsg2 A G 18: 20,579,176 D123G probably damaging Het
Dysf T A 6: 84,210,787 probably benign Het
Erbb4 A G 1: 68,080,726 S853P probably damaging Het
Fbn2 A G 18: 58,114,553 M423T probably benign Het
Fgfr1 T C 8: 25,555,711 Y112H probably damaging Het
Gbp7 G A 3: 142,538,900 A203T probably damaging Het
Gon4l C T 3: 88,895,336 P1085S possibly damaging Het
Gsdma2 T C 11: 98,650,974 F176L probably damaging Het
Haghl A G 17: 25,784,265 F131S probably damaging Het
Hmcn1 G A 1: 150,615,298 P4167S probably damaging Het
Hscb T C 5: 110,830,954 N199D probably benign Het
Lmbr1l T A 15: 98,904,785 N428Y probably damaging Het
Mc2r T A 18: 68,407,434 M263L probably benign Het
Metap1 T A 3: 138,462,389 T325S probably damaging Het
Mff A G 1: 82,741,975 R225G probably damaging Het
Naprt A T 15: 75,891,372 L474Q probably damaging Het
Nin A T 12: 70,062,699 Y155* probably null Het
Nrg3 A T 14: 38,370,767 C612* probably null Het
Olfr170 T C 16: 19,606,550 I39M possibly damaging Het
Olfr472 A T 7: 107,903,290 D191V possibly damaging Het
Olfr781 T A 10: 129,333,127 I82K probably damaging Het
Pdilt A T 7: 119,500,444 F200L probably damaging Het
Ppard T G 17: 28,298,903 F315C probably damaging Het
Ror1 T A 4: 100,441,184 S585T probably damaging Het
Spdye4a T A 5: 143,225,705 I35F possibly damaging Het
Tenm2 T C 11: 36,207,095 K442R probably benign Het
Tln2 A G 9: 67,356,698 I553T probably damaging Het
Tmem269 T A 4: 119,214,141 I26F probably benign Het
Tsen2 T C 6: 115,559,607 V108A probably benign Het
Ttyh3 A T 5: 140,629,483 D383E probably damaging Het
Usp13 T C 3: 32,847,825 S102P probably damaging Het
Vmn2r118 T G 17: 55,592,619 S762R probably damaging Het
Washc4 A G 10: 83,579,543 N799S possibly damaging Het
Zcchc6 A G 13: 59,782,096 S1042P possibly damaging Het
Zdhhc17 C T 10: 110,967,689 V256I probably benign Het
Zfp51 T A 17: 21,463,959 F279I probably damaging Het
Zzz3 A G 3: 152,451,369 T223A probably damaging Het
Other mutations in Acap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Acap1 APN 11 69882691 missense possibly damaging 0.95
IGL01148:Acap1 APN 11 69890903 nonsense probably null
IGL01398:Acap1 APN 11 69881722 missense probably damaging 1.00
IGL01583:Acap1 APN 11 69881677 missense probably damaging 1.00
IGL02078:Acap1 APN 11 69895286 missense probably damaging 1.00
IGL02083:Acap1 APN 11 69889510 missense possibly damaging 0.74
IGL02535:Acap1 APN 11 69882694 missense probably benign 0.02
IGL02669:Acap1 APN 11 69894595 unclassified probably benign
IGL03125:Acap1 APN 11 69887038 missense probably damaging 1.00
autobot UTSW 11 69881722 missense probably damaging 1.00
R0127:Acap1 UTSW 11 69887217 splice site probably benign
R0243:Acap1 UTSW 11 69885426 missense probably damaging 0.98
R0604:Acap1 UTSW 11 69884625 missense probably benign 0.01
R0863:Acap1 UTSW 11 69887056 missense probably damaging 0.98
R1331:Acap1 UTSW 11 69882376 splice site probably null
R1911:Acap1 UTSW 11 69881722 missense probably damaging 1.00
R1994:Acap1 UTSW 11 69889498 missense probably benign 0.41
R2411:Acap1 UTSW 11 69885485 missense probably damaging 1.00
R2442:Acap1 UTSW 11 69889491 missense possibly damaging 0.46
R2910:Acap1 UTSW 11 69887076 splice site probably benign
R4164:Acap1 UTSW 11 69890037 missense probably benign 0.22
R4223:Acap1 UTSW 11 69883685 missense probably damaging 0.99
R4562:Acap1 UTSW 11 69885351 intron probably benign
R4676:Acap1 UTSW 11 69889468 missense probably benign 0.22
R4852:Acap1 UTSW 11 69884376 missense probably benign 0.30
R4921:Acap1 UTSW 11 69887193 missense probably damaging 0.98
R4928:Acap1 UTSW 11 69885815 missense possibly damaging 0.81
R5536:Acap1 UTSW 11 69889307 missense probably benign 0.11
R5886:Acap1 UTSW 11 69884336 missense probably benign
R6053:Acap1 UTSW 11 69887070 critical splice acceptor site probably null
R6196:Acap1 UTSW 11 69887067 missense probably damaging 0.98
R6220:Acap1 UTSW 11 69889679 missense probably damaging 0.99
R6295:Acap1 UTSW 11 69890587 critical splice donor site probably null
R6333:Acap1 UTSW 11 69883601 missense possibly damaging 0.65
R6414:Acap1 UTSW 11 69884336 missense probably benign
R6848:Acap1 UTSW 11 69884661 missense probably damaging 1.00
R6952:Acap1 UTSW 11 69885517 missense probably benign 0.30
R7243:Acap1 UTSW 11 69890471 missense probably benign 0.21
X0012:Acap1 UTSW 11 69881689 missense probably damaging 1.00
X0027:Acap1 UTSW 11 69881723 missense probably damaging 1.00
Posted On2014-05-07