Incidental Mutation 'IGL02825:Ap1b1'
ID361182
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: 0.629) question?
Stock #IGL02825
Quality Score
Status
Chromosome11
Chromosomal Location4986824-5042791 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 5033738 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 664 (A664S)
Ref Sequence ENSEMBL: ENSMUSP00000099134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009234] [ENSMUST00000101613] [ENSMUST00000109897]
Predicted Effect probably benign
Transcript: ENSMUST00000009234
AA Change: A684S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000009234
Gene: ENSMUSG00000009090
AA Change: A684S

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 possibly damaging
Transcript: ENSMUST00000101613
AA Change: A664S

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099134
Gene: ENSMUSG00000009090
AA Change: A664S

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: A657S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105523
Gene: ENSMUSG00000009090
AA Change: A657S

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: ENSMUST00000142325
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197692
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo A G 2: 26,843,698 V163A possibly damaging Het
B3gnt4 T C 5: 123,511,051 F160L possibly damaging Het
Brd3 T C 2: 27,449,263 E685G probably damaging Het
Cacna2d2 C T 9: 107,524,460 R746C probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Chl1 T A 6: 103,668,803 V268E possibly damaging Het
Cpb1 T A 3: 20,249,725 I392F probably damaging Het
Dnaic1 T C 4: 41,625,101 probably benign Het
Dync2h1 T C 9: 6,955,901 probably benign Het
Edc4 T C 8: 105,890,611 S1021P probably damaging Het
Exoc7 A C 11: 116,297,585 L296R probably damaging Het
Fgd5 A G 6: 92,038,087 probably null Het
Gm28042 T A 2: 120,031,644 M232K probably damaging Het
Gm884 G A 11: 103,617,068 probably benign Het
Ints1 A T 5: 139,764,739 S888T probably benign Het
Kirrel A T 3: 87,089,288 probably benign Het
Lrp1 C T 10: 127,542,605 R4037Q probably damaging Het
Lrrn3 A T 12: 41,452,593 V575D probably damaging Het
Mapk11 A G 15: 89,146,382 Y103H probably damaging Het
Mrpl19 G T 6: 81,965,815 T38K probably benign Het
Nefl A T 14: 68,084,346 K128N possibly damaging Het
Olfm1 A G 2: 28,229,078 N242D probably damaging Het
Olfr601 T C 7: 103,358,361 I278V probably benign Het
Olfr959 A T 9: 39,572,581 I226N probably damaging Het
Oprd1 T A 4: 132,117,359 T113S probably damaging Het
Pds5b C T 5: 150,728,970 T234I possibly damaging Het
Prpf3 A T 3: 95,853,480 C37S probably damaging Het
Rpgrip1l G A 8: 91,304,805 T148M probably damaging Het
Rph3a T C 5: 120,945,446 K587R possibly damaging Het
Scn3b T C 9: 40,277,145 C5R probably damaging Het
Sirpa C T 2: 129,615,452 P149S probably damaging Het
Slco1a1 A T 6: 141,918,617 C486S probably damaging Het
Spin1 C A 13: 51,123,296 probably benign Het
Stom C A 2: 35,321,632 V126F probably damaging Het
Tom1 A G 8: 75,057,255 D64G probably damaging Het
Trbv4 T A 6: 41,059,679 L46Q probably damaging Het
Trhr A T 15: 44,229,525 D386V possibly damaging Het
Vmn2r101 T A 17: 19,589,870 I306N probably benign Het
Vmn2r51 C T 7: 10,098,119 probably benign Het
Vmn2r63 A G 7: 42,926,850 probably null Het
Zfp277 T C 12: 40,317,176 K494E probably benign Het
Zranb3 A T 1: 127,959,752 S979R 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
IGL02055:Ap1b1 APN 11 5024452 nonsense probably null
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
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
R8291:Ap1b1 UTSW 11 5018027 missense probably damaging 1.00
X0018:Ap1b1 UTSW 11 5009581 missense probably damaging 1.00
Posted On2015-12-18