Incidental Mutation 'IGL02318:Ap1b1'
ID 288124
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap1b1
Ensembl Gene ENSMUSG00000009090
Gene Name adaptor protein complex AP-1, beta 1 subunit
Synonyms Adtb1, beta-prime adaptin, b2b1660Clo
Accession Numbers
Essential gene? Probably essential (E-score: 0.753) question?
Stock # IGL02318
Quality Score
Status
Chromosome 11
Chromosomal Location 4936824-4992791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4969294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 217 (V217I)
Ref Sequence ENSEMBL: ENSMUSP00000105523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009234] [ENSMUST00000101613] [ENSMUST00000109897]
AlphaFold O35643
Predicted Effect probably benign
Transcript: ENSMUST00000009234
AA Change: V244I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000009234
Gene: ENSMUSG00000009090
AA Change: V244I

DomainStartEndE-ValueType
Pfam:Adaptin_N 10 534 1.5e-174 PFAM
Pfam:HEAT_2 88 157 3.2e-8 PFAM
Pfam:Cnd1 99 268 4.1e-41 PFAM
low complexity region 594 616 N/A INTRINSIC
low complexity region 626 638 N/A INTRINSIC
low complexity region 657 670 N/A INTRINSIC
low complexity region 674 686 N/A INTRINSIC
Alpha_adaptinC2 713 823 3.38e-18 SMART
B2-adapt-app_C 832 942 4.6e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000101613
AA Change: V217I

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000099134
Gene: ENSMUSG00000009090
AA Change: V217I

DomainStartEndE-ValueType
Pfam:Adaptin_N 10 179 7.5e-61 PFAM
Pfam:HEAT_2 88 179 2e-9 PFAM
Pfam:Cnd1 99 176 2.4e-19 PFAM
Pfam:Cnd1 174 241 1.9e-10 PFAM
Pfam:Adaptin_N 176 507 3.8e-102 PFAM
low complexity region 567 589 N/A INTRINSIC
low complexity region 599 611 N/A INTRINSIC
low complexity region 630 642 N/A INTRINSIC
low complexity region 654 666 N/A INTRINSIC
Alpha_adaptinC2 693 803 3.38e-18 SMART
B2-adapt-app_C 812 922 4.6e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109897
AA Change: V217I

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000105523
Gene: ENSMUSG00000009090
AA Change: V217I

DomainStartEndE-ValueType
Pfam:Adaptin_N 10 179 1.2e-60 PFAM
Pfam:HEAT_2 88 185 3.9e-10 PFAM
Pfam:Cnd1 99 175 5e-20 PFAM
Pfam:Cnd1 174 241 1.7e-7 PFAM
Pfam:Adaptin_N 176 507 4.9e-102 PFAM
low complexity region 567 589 N/A INTRINSIC
low complexity region 599 611 N/A INTRINSIC
low complexity region 630 643 N/A INTRINSIC
low complexity region 647 659 N/A INTRINSIC
Alpha_adaptinC2 686 796 3.38e-18 SMART
B2-adapt-app_C 805 915 4.6e-51 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144426
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A G 5: 138,561,838 (GRCm39) F116S probably damaging Het
Abhd18 G A 3: 40,884,662 (GRCm39) probably null Het
Akr1c6 G T 13: 4,488,496 (GRCm39) C34F probably benign Het
Ankef1 T A 2: 136,386,695 (GRCm39) I180N possibly damaging Het
Arhgap27 T C 11: 103,223,989 (GRCm39) Q608R probably benign Het
Arhgap32 A G 9: 32,170,627 (GRCm39) T1136A probably benign Het
Ascc3 T A 10: 50,604,250 (GRCm39) Y1323* probably null Het
Bsx A C 9: 40,785,517 (GRCm39) Q15P probably benign Het
Cdh20 A G 1: 104,881,764 (GRCm39) I410V probably null Het
Cfhr4 T A 1: 139,708,835 (GRCm39) E24D probably benign Het
Col20a1 A G 2: 180,648,952 (GRCm39) D945G probably damaging Het
Cox20 A G 1: 178,150,043 (GRCm39) probably null Het
Cplane1 A G 15: 8,204,509 (GRCm39) K96E probably damaging Het
Cpne9 A G 6: 113,270,699 (GRCm39) D305G possibly damaging Het
Cyp2d12 A G 15: 82,439,444 (GRCm39) T33A probably benign Het
Dvl3 A G 16: 20,342,493 (GRCm39) R149G possibly damaging Het
Dysf A G 6: 84,163,446 (GRCm39) I1624V possibly damaging Het
Echs1 A T 7: 139,691,623 (GRCm39) L167Q probably damaging Het
Ect2 A T 3: 27,192,868 (GRCm39) N358K probably benign Het
Eml4 A G 17: 83,748,795 (GRCm39) I230V probably benign Het
Fut10 A G 8: 31,726,286 (GRCm39) Y347C probably damaging Het
Gfm2 C A 13: 97,299,483 (GRCm39) N401K probably damaging Het
Gm4795 C T 10: 44,882,735 (GRCm39) noncoding transcript Het
Gm5592 C A 7: 40,936,212 (GRCm39) T238N probably benign Het
Gm9892 T C 8: 52,649,260 (GRCm39) noncoding transcript Het
Greb1l G T 18: 10,469,388 (GRCm39) M134I possibly damaging Het
Grk3 A G 5: 113,085,669 (GRCm39) Y314H probably damaging Het
Hrh2 T C 13: 54,368,669 (GRCm39) I215T probably damaging Het
Ilkap A G 1: 91,312,960 (GRCm39) probably null Het
Inpp4a T C 1: 37,407,384 (GRCm39) Y233H probably damaging Het
Itgb4 G A 11: 115,879,752 (GRCm39) V635I probably damaging Het
Lmo7 C T 14: 102,137,502 (GRCm39) probably benign Het
Luc7l3 C T 11: 94,183,819 (GRCm39) R440Q probably benign Het
Mis18bp1 A C 12: 65,205,515 (GRCm39) I219S probably benign Het
Myo9b G A 8: 71,806,768 (GRCm39) E1581K probably damaging Het
Nfs1 T A 2: 155,966,191 (GRCm39) Q458L probably damaging Het
Numb A T 12: 83,878,692 (GRCm39) probably null Het
Nxf1 G A 19: 8,741,514 (GRCm39) probably null Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or52z1 A G 7: 103,437,475 (GRCm39) V3A probably benign Het
Pacc1 A G 1: 191,080,605 (GRCm39) E275G possibly damaging Het
Pde2a A T 7: 101,152,550 (GRCm39) Y371F possibly damaging Het
Phlpp2 G T 8: 110,666,505 (GRCm39) L1011F probably benign Het
Potefam3e T C 8: 19,797,815 (GRCm39) probably null Het
Prss27 G T 17: 24,264,571 (GRCm39) V245L probably benign Het
Rbm7 T C 9: 48,405,411 (GRCm39) N56S probably damaging Het
Rftn1 T C 17: 50,343,998 (GRCm39) I97V possibly damaging Het
Ric3 T C 7: 108,647,287 (GRCm39) T178A probably damaging Het
Rock1 A G 18: 10,104,323 (GRCm39) probably benign Het
Sall2 T C 14: 52,553,022 (GRCm39) T56A probably damaging Het
Sgk1 T C 10: 21,871,440 (GRCm39) S60P probably damaging Het
Smarcad1 G A 6: 65,050,223 (GRCm39) A281T probably damaging Het
Spta1 A G 1: 174,002,029 (GRCm39) H53R possibly damaging Het
Thbs4 T C 13: 92,900,092 (GRCm39) D468G probably damaging Het
Tmem108 A T 9: 103,376,981 (GRCm39) V156E probably benign Het
Tnfaip3 T G 10: 18,880,215 (GRCm39) R617S probably benign Het
Traf3 A G 12: 111,204,031 (GRCm39) M7V probably benign Het
Ubr3 T A 2: 69,809,741 (GRCm39) I1237N probably damaging Het
Vmn2r23 T C 6: 123,718,795 (GRCm39) V716A probably benign Het
Other mutations in Ap1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Ap1b1 APN 11 4,969,433 (GRCm39) missense probably damaging 1.00
IGL01843:Ap1b1 APN 11 4,989,169 (GRCm39) missense probably damaging 1.00
IGL01981:Ap1b1 APN 11 4,969,336 (GRCm39) missense possibly damaging 0.84
IGL02055:Ap1b1 APN 11 4,974,452 (GRCm39) nonsense probably null
IGL02505:Ap1b1 APN 11 4,981,700 (GRCm39) missense probably benign 0.11
IGL02824:Ap1b1 APN 11 4,983,738 (GRCm39) missense possibly damaging 0.47
IGL02825:Ap1b1 APN 11 4,983,738 (GRCm39) missense possibly damaging 0.47
IGL02963:Ap1b1 APN 11 4,983,738 (GRCm39) missense possibly damaging 0.47
PIT4142001:Ap1b1 UTSW 11 4,990,360 (GRCm39) missense probably damaging 1.00
R0321:Ap1b1 UTSW 11 4,982,464 (GRCm39) missense probably benign
R0477:Ap1b1 UTSW 11 4,981,787 (GRCm39) missense probably benign 0.13
R0622:Ap1b1 UTSW 11 4,987,707 (GRCm39) missense probably damaging 0.96
R0831:Ap1b1 UTSW 11 4,973,092 (GRCm39) splice site probably benign
R1502:Ap1b1 UTSW 11 4,990,290 (GRCm39) missense probably benign
R1529:Ap1b1 UTSW 11 4,989,547 (GRCm39) missense probably damaging 1.00
R2110:Ap1b1 UTSW 11 4,965,613 (GRCm39) missense probably damaging 0.99
R2112:Ap1b1 UTSW 11 4,965,613 (GRCm39) missense probably damaging 0.99
R2186:Ap1b1 UTSW 11 4,965,737 (GRCm39) missense possibly damaging 0.84
R2906:Ap1b1 UTSW 11 4,981,641 (GRCm39) missense probably damaging 1.00
R2907:Ap1b1 UTSW 11 4,981,641 (GRCm39) missense probably damaging 1.00
R2908:Ap1b1 UTSW 11 4,981,641 (GRCm39) missense probably damaging 1.00
R3154:Ap1b1 UTSW 11 4,973,135 (GRCm39) missense possibly damaging 0.95
R3611:Ap1b1 UTSW 11 4,974,427 (GRCm39) missense possibly damaging 0.87
R3805:Ap1b1 UTSW 11 4,983,225 (GRCm39) splice site probably null
R4207:Ap1b1 UTSW 11 4,981,637 (GRCm39) missense probably damaging 0.96
R4660:Ap1b1 UTSW 11 4,966,760 (GRCm39) missense probably damaging 1.00
R4710:Ap1b1 UTSW 11 4,981,664 (GRCm39) missense probably damaging 0.97
R4826:Ap1b1 UTSW 11 4,968,043 (GRCm39) missense probably benign 0.11
R4914:Ap1b1 UTSW 11 4,974,400 (GRCm39) missense possibly damaging 0.73
R5086:Ap1b1 UTSW 11 4,968,020 (GRCm39) missense possibly damaging 0.83
R5249:Ap1b1 UTSW 11 4,976,364 (GRCm39) missense probably damaging 0.97
R6014:Ap1b1 UTSW 11 4,969,364 (GRCm39) missense possibly damaging 0.55
R6268:Ap1b1 UTSW 11 4,969,493 (GRCm39) missense probably damaging 1.00
R6388:Ap1b1 UTSW 11 4,976,319 (GRCm39) missense probably damaging 1.00
R6765:Ap1b1 UTSW 11 4,969,427 (GRCm39) missense probably damaging 1.00
R6913:Ap1b1 UTSW 11 4,962,972 (GRCm39) missense possibly damaging 0.84
R7012:Ap1b1 UTSW 11 4,980,963 (GRCm39) missense probably damaging 1.00
R7107:Ap1b1 UTSW 11 4,989,558 (GRCm39) missense probably benign 0.02
R8291:Ap1b1 UTSW 11 4,968,027 (GRCm39) missense probably damaging 1.00
R9075:Ap1b1 UTSW 11 4,975,597 (GRCm39) missense possibly damaging 0.93
R9090:Ap1b1 UTSW 11 4,973,174 (GRCm39) missense probably damaging 1.00
R9271:Ap1b1 UTSW 11 4,973,174 (GRCm39) missense probably damaging 1.00
R9297:Ap1b1 UTSW 11 4,990,157 (GRCm39) missense probably benign 0.05
R9318:Ap1b1 UTSW 11 4,990,157 (GRCm39) missense probably benign 0.05
R9560:Ap1b1 UTSW 11 4,976,363 (GRCm39) missense probably benign 0.38
X0018:Ap1b1 UTSW 11 4,959,581 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16