Incidental Mutation 'R6053:Acap1'
ID 484254
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 044221-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6053 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 69772393-69786365 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to G at 69777896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001631] [ENSMUST00000001631] [ENSMUST00000108622] [ENSMUST00000108622]
AlphaFold Q8K2H4
Predicted Effect probably null
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 null
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 null
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 probably null
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: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,964,666 (GRCm39) Y2158H probably damaging Het
Adamts4 T A 1: 171,080,284 (GRCm39) I279N possibly damaging Het
Akap3 A G 6: 126,843,496 (GRCm39) E705G probably damaging Het
Aoc1l3 A G 6: 48,965,422 (GRCm39) T477A probably benign Het
Arap3 C A 18: 38,123,824 (GRCm39) L398F probably damaging Het
Catsperg1 A T 7: 28,910,239 (GRCm39) L34* probably null Het
Ccdc171 T G 4: 83,713,456 (GRCm39) L1165R probably damaging Het
Ccdc3 G A 2: 5,233,838 (GRCm39) V221I probably benign Het
Cdc42ep4 T A 11: 113,619,812 (GRCm39) H193L probably damaging Het
Clcn1 G A 6: 42,277,208 (GRCm39) W361* probably null Het
Cntn2 T C 1: 132,446,090 (GRCm39) N832S probably benign Het
Col5a1 A T 2: 27,904,389 (GRCm39) probably benign Het
Cplane1 A G 15: 8,217,945 (GRCm39) D785G probably benign Het
Cspg4b C A 13: 113,457,260 (GRCm39) P1102Q possibly damaging Het
Ctc1 T A 11: 68,918,727 (GRCm39) M550K probably benign Het
Dennd5a T C 7: 109,532,952 (GRCm39) R273G probably damaging Het
Dnajb7 T C 15: 81,291,500 (GRCm39) E279G probably benign Het
Dop1a G T 9: 86,397,347 (GRCm39) G882W possibly damaging Het
Dvl2 A G 11: 69,896,819 (GRCm39) R238G possibly damaging Het
Ect2l A T 10: 18,017,592 (GRCm39) L629Q probably damaging Het
Enpp1 T C 10: 24,533,024 (GRCm39) D497G possibly damaging Het
Ep400 T C 5: 110,903,661 (GRCm39) M313V probably benign Het
Epn2 T C 11: 61,437,323 (GRCm39) Y83C probably damaging Het
Ercc3 T G 18: 32,379,807 (GRCm39) V338G probably damaging Het
Fkbp5 T C 17: 28,647,440 (GRCm39) I132V probably benign Het
Fn1 A T 1: 71,638,449 (GRCm39) Y1846N probably damaging Het
Foxg1 T C 12: 49,432,161 (GRCm39) L298P possibly damaging Het
Foxo3 G A 10: 42,073,210 (GRCm39) P436S probably benign Het
Gbx2 T C 1: 89,858,159 (GRCm39) T107A probably benign Het
Gli1 G T 10: 127,170,184 (GRCm39) H324N probably damaging Het
Gnas T A 2: 174,141,645 (GRCm39) S605T possibly damaging Het
Ica1 C T 6: 8,630,783 (GRCm39) A431T probably benign Het
Il10ra C T 9: 45,167,601 (GRCm39) D319N probably damaging Het
Jmjd4 T A 11: 59,344,870 (GRCm39) H274Q probably damaging Het
Krt28 C A 11: 99,262,027 (GRCm39) L294F probably benign Het
Ltbp3 C A 19: 5,802,122 (GRCm39) T766K probably damaging Het
Man2b2 C A 5: 36,970,382 (GRCm39) M841I probably benign Het
Mmp14 T A 14: 54,673,347 (GRCm39) M85K probably benign Het
Mmp1b T A 9: 7,385,031 (GRCm39) D206V probably benign Het
Muc5b T C 7: 141,418,445 (GRCm39) F3797S probably benign Het
Mug1 A G 6: 121,842,697 (GRCm39) D561G probably benign Het
Myo18a T A 11: 77,709,002 (GRCm39) H471Q probably damaging Het
Nfkb2 A G 19: 46,300,251 (GRCm39) E873G probably damaging Het
Ngfr G A 11: 95,461,832 (GRCm39) H361Y possibly damaging Het
Nnt T C 13: 119,494,045 (GRCm39) T679A possibly damaging Het
Notch1 A T 2: 26,362,924 (GRCm39) N947K probably benign Het
Nrg4 A T 9: 55,143,774 (GRCm39) V94D probably benign Het
Nsd1 G T 13: 55,441,422 (GRCm39) C1631F probably damaging Het
Nutm1 T C 2: 112,079,435 (GRCm39) T827A probably benign Het
Or2t47 T A 11: 58,442,892 (GRCm39) M58L possibly damaging Het
Or4c114 T C 2: 88,904,898 (GRCm39) D179G probably damaging Het
Or5h19 A T 16: 58,856,351 (GRCm39) Y250N probably damaging Het
Or6p1 C A 1: 174,258,135 (GRCm39) S47* probably null Het
Or8b36 TTGCTGT TTGCTGTCTGCTGT 9: 37,937,837 (GRCm39) probably null Het
Orai3 C T 7: 127,373,050 (GRCm39) P184S probably benign Het
Paqr3 A T 5: 97,259,137 (GRCm39) S56T probably benign Het
Pard6b C T 2: 167,940,973 (GRCm39) T320M possibly damaging Het
Pgs1 T C 11: 117,892,535 (GRCm39) S166P probably damaging Het
Plaa T C 4: 94,478,121 (GRCm39) T114A probably benign Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Plin4 A T 17: 56,415,618 (GRCm39) D73E probably benign Het
Plxnb1 T C 9: 108,940,775 (GRCm39) L1550P probably damaging Het
Rbak A C 5: 143,160,437 (GRCm39) Y205* probably null Het
Rgs12 T C 5: 35,123,296 (GRCm39) F360L probably benign Het
Rgs22 A T 15: 36,100,153 (GRCm39) D187E probably benign Het
Sec24d C T 3: 123,072,871 (GRCm39) Q66* probably null Het
Sh2d5 T A 4: 137,982,873 (GRCm39) M85K probably damaging Het
Sos1 A G 17: 80,722,463 (GRCm39) V861A possibly damaging Het
Stk11ip T A 1: 75,510,899 (GRCm39) probably null Het
Tmem26 G A 10: 68,584,314 (GRCm39) E127K probably benign Het
Tmem41a T G 16: 21,753,739 (GRCm39) T211P possibly damaging Het
Tmem69 T A 4: 116,410,581 (GRCm39) M130L possibly damaging Het
Trak2 C A 1: 58,943,228 (GRCm39) R726L possibly damaging Het
Vmn1r231 A G 17: 21,110,081 (GRCm39) I278T probably damaging Het
Vwf G A 6: 125,577,628 (GRCm39) V490I probably benign Het
Wdr33 C T 18: 32,011,116 (GRCm39) T255I possibly damaging Het
Ylpm1 G T 12: 85,043,277 (GRCm39) W5L possibly damaging Het
Zfp169 A T 13: 48,652,334 (GRCm39) W28R probably damaging 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
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'- GGCTTTCTGCTTCAACCCAG -3'
(R):5'- TGGGCATGCATGTAACCAC -3'

Sequencing Primer
(F):5'- CAAAGGGTTAAGTCCTGGACCTATTC -3'
(R):5'- GGGCATGCATGTAACCACTTCTTC -3'
Posted On 2017-07-14