Incidental Mutation 'IGL02055:Ap1b1'
ID185200
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ap1b1
Ensembl Gene ENSMUSG00000009090
Gene Nameadaptor protein complex AP-1, beta 1 subunit
SynonymsAdtb1, beta-prime adaptin
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.663) question?
Stock #IGL02055
Quality Score
Status
Chromosome11
Chromosomal Location4986824-5042791 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 5024452 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 353 (C353*)
Ref Sequence ENSEMBL: ENSMUSP00000105523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009234] [ENSMUST00000101613] [ENSMUST00000109897]
Predicted Effect probably null
Transcript: ENSMUST00000009234
AA Change: C380*
SMART Domains Protein: ENSMUSP00000009234
Gene: ENSMUSG00000009090
AA Change: C380*

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 null
Transcript: ENSMUST00000101613
AA Change: C353*
SMART Domains Protein: ENSMUSP00000099134
Gene: ENSMUSG00000009090
AA Change: C353*

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 null
Transcript: ENSMUST00000109897
AA Change: C353*
SMART Domains Protein: ENSMUSP00000105523
Gene: ENSMUSG00000009090
AA Change: C353*

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik A G 11: 78,286,631 T1921A probably damaging Het
Asl C T 5: 130,013,050 G309R possibly damaging Het
B4galnt4 T C 7: 141,070,818 F835S probably damaging Het
Carmil2 A G 8: 105,696,907 probably benign Het
Ccnt2 C A 1: 127,791,710 P116T possibly damaging Het
Clcn1 T G 6: 42,307,555 M609R probably damaging Het
Csmd1 A G 8: 16,069,001 I1858T probably damaging Het
Eefsec T C 6: 88,376,403 I95V probably damaging Het
Galk2 A G 2: 125,931,404 K252R probably benign Het
Gbp2 A T 3: 142,632,230 N369I probably benign Het
Glis2 G T 16: 4,614,108 probably benign Het
Igdcc3 T C 9: 65,181,280 V388A possibly damaging Het
Klhl1 A G 14: 96,280,103 F379S possibly damaging Het
Olfr1448 T A 19: 12,919,566 I248F possibly damaging Het
Pigm C T 1: 172,377,165 S156L probably benign Het
Pikfyve T C 1: 65,238,544 probably null Het
Ppp6r3 A G 19: 3,521,781 F123L probably benign Het
Pum1 C A 4: 130,754,054 S637R probably benign Het
Rp1 A G 1: 4,352,522 S112P probably damaging Het
Serpina3k A T 12: 104,341,036 K176* probably null Het
Smad4 A G 18: 73,641,928 probably benign Het
Tas2r137 T A 6: 40,491,559 F108I probably damaging Het
Tbc1d20 G A 2: 152,308,058 R73H probably damaging Het
Tmem131l T C 3: 83,910,366 probably null Het
Tmem86b A C 7: 4,628,763 probably benign Het
Trav6-4 G A 14: 53,454,780 V115I probably benign Het
Trim37 T G 11: 87,166,649 V303G probably benign Het
Trpc7 C T 13: 56,887,544 R192Q probably benign Het
Ush1g T C 11: 115,318,099 D423G possibly damaging Het
Veph1 T A 3: 66,205,627 D252V possibly damaging Het
Vmn1r181 T G 7: 23,984,553 L148V probably damaging Het
Vmn1r42 T C 6: 89,845,589 probably benign Het
Vmn2r77 T A 7: 86,801,555 H216Q probably benign Het
Zfp39 A G 11: 58,891,330 V202A probably benign Het
Other mutations in Ap1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Ap1b1 APN 11 5019433 missense probably damaging 1.00
IGL01843:Ap1b1 APN 11 5039169 missense probably damaging 1.00
IGL01981:Ap1b1 APN 11 5019336 missense possibly damaging 0.84
IGL02318:Ap1b1 APN 11 5019294 missense probably benign 0.14
IGL02505:Ap1b1 APN 11 5031700 missense probably benign 0.11
IGL02824:Ap1b1 APN 11 5033738 missense possibly damaging 0.47
IGL02825:Ap1b1 APN 11 5033738 missense possibly damaging 0.47
IGL02963:Ap1b1 APN 11 5033738 missense possibly damaging 0.47
PIT4142001:Ap1b1 UTSW 11 5040360 missense probably damaging 1.00
R0321:Ap1b1 UTSW 11 5032464 missense probably benign
R0477:Ap1b1 UTSW 11 5031787 missense probably benign 0.13
R0622:Ap1b1 UTSW 11 5037707 missense probably damaging 0.96
R0831:Ap1b1 UTSW 11 5023092 splice site probably benign
R1502:Ap1b1 UTSW 11 5040290 missense probably benign
R1529:Ap1b1 UTSW 11 5039547 missense probably damaging 1.00
R2110:Ap1b1 UTSW 11 5015613 missense probably damaging 0.99
R2112:Ap1b1 UTSW 11 5015613 missense probably damaging 0.99
R2186:Ap1b1 UTSW 11 5015737 missense possibly damaging 0.84
R2906:Ap1b1 UTSW 11 5031641 missense probably damaging 1.00
R2907:Ap1b1 UTSW 11 5031641 missense probably damaging 1.00
R2908:Ap1b1 UTSW 11 5031641 missense probably damaging 1.00
R3154:Ap1b1 UTSW 11 5023135 missense possibly damaging 0.95
R3611:Ap1b1 UTSW 11 5024427 missense possibly damaging 0.87
R3805:Ap1b1 UTSW 11 5033225 intron probably null
R4207:Ap1b1 UTSW 11 5031637 missense probably damaging 0.96
R4660:Ap1b1 UTSW 11 5016760 missense probably damaging 1.00
R4710:Ap1b1 UTSW 11 5031664 missense probably damaging 0.97
R4826:Ap1b1 UTSW 11 5018043 missense probably benign 0.11
R4914:Ap1b1 UTSW 11 5024400 missense possibly damaging 0.73
R5086:Ap1b1 UTSW 11 5018020 missense possibly damaging 0.83
R5249:Ap1b1 UTSW 11 5026364 missense probably damaging 0.97
R6014:Ap1b1 UTSW 11 5019364 missense possibly damaging 0.55
R6268:Ap1b1 UTSW 11 5019493 missense probably damaging 1.00
R6388:Ap1b1 UTSW 11 5026319 missense probably damaging 1.00
R6765:Ap1b1 UTSW 11 5019427 missense probably damaging 1.00
R6913:Ap1b1 UTSW 11 5012972 missense possibly damaging 0.84
R7012:Ap1b1 UTSW 11 5030963 missense probably damaging 1.00
R7107:Ap1b1 UTSW 11 5039558 missense probably benign 0.02
X0018:Ap1b1 UTSW 11 5009581 missense probably damaging 1.00
Posted On2014-05-07