Incidental Mutation 'IGL00864:Ap2b1'
| ID |
12462 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ap2b1
|
| Ensembl Gene |
ENSMUSG00000035152 |
| Gene Name |
adaptor-related protein complex 2, beta 1 subunit |
| Synonyms |
1300012O03Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00864
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
83299024-83405035 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 83333158 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 195
(D195A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018875]
[ENSMUST00000065692]
[ENSMUST00000176430]
[ENSMUST00000176523]
[ENSMUST00000176944]
|
| AlphaFold |
Q9DBG3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018875
AA Change: D233A
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: D233A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
534 |
2.6e-173 |
PFAM |
|
Pfam:HEAT_2
|
88 |
157 |
3.7e-8 |
PFAM |
|
Pfam:Cnd1
|
99 |
268 |
2.1e-40 |
PFAM |
|
Pfam:HEAT_2
|
124 |
219 |
1.4e-9 |
PFAM |
|
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
675 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
721 |
831 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
840 |
950 |
9.93e-56 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065692
AA Change: D233A
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: D233A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
534 |
4.2e-173 |
PFAM |
|
Pfam:HEAT_2
|
88 |
157 |
2.7e-8 |
PFAM |
|
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
|
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
665 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
707 |
817 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
826 |
936 |
9.93e-56 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132178
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176430
AA Change: D233A
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: D233A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
534 |
4e-173 |
PFAM |
|
Pfam:HEAT_2
|
88 |
157 |
2.8e-8 |
PFAM |
|
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
|
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
675 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
721 |
831 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
840 |
936 |
7.22e-35 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176523
AA Change: D195A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: D195A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
95 |
1.1e-26 |
PFAM |
|
Pfam:Cnd1
|
69 |
230 |
1.5e-26 |
PFAM |
|
Pfam:HEAT_2
|
85 |
182 |
5.1e-9 |
PFAM |
|
Pfam:Adaptin_N
|
90 |
496 |
4e-125 |
PFAM |
|
low complexity region
|
587 |
605 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
637 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
683 |
793 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
802 |
912 |
9.93e-56 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176944
|
| SMART Domains |
Protein: ENSMUSP00000134798
Gene: ENSMUSG00000035152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
199 |
3.4e-67 |
PFAM |
|
Pfam:DNA_alkylation
|
18 |
196 |
4.6e-8 |
PFAM |
|
Pfam:HEAT_2
|
88 |
185 |
3.1e-13 |
PFAM |
|
Pfam:Cnd1
|
99 |
198 |
4.2e-27 |
PFAM |
|
Pfam:HEAT
|
122 |
151 |
1.4e-5 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit cleft palate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,235,698 |
D142G |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,522,446 |
I1171K |
probably benign |
Het |
| Atm |
T |
C |
9: 53,533,933 |
S2G |
probably damaging |
Het |
| Crygd |
C |
T |
1: 65,062,091 |
R115Q |
probably benign |
Het |
| Ephx1 |
A |
G |
1: 180,990,451 |
S356P |
probably damaging |
Het |
| H1foo |
A |
G |
6: 115,948,626 |
K128R |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,336,754 |
I6T |
probably benign |
Het |
| Itm2b |
T |
C |
14: 73,363,135 |
K242E |
probably damaging |
Het |
| Kcnq5 |
T |
A |
1: 21,505,763 |
Q239L |
probably damaging |
Het |
| Lmbrd2 |
T |
C |
15: 9,175,210 |
S403P |
probably damaging |
Het |
| Ola1 |
A |
T |
2: 73,156,897 |
D130E |
probably benign |
Het |
| Opcml |
G |
A |
9: 28,901,590 |
E193K |
probably damaging |
Het |
| Opcml |
A |
C |
9: 28,901,591 |
E193A |
probably damaging |
Het |
| Rab44 |
T |
C |
17: 29,139,737 |
S300P |
probably benign |
Het |
| Sergef |
C |
A |
7: 46,515,663 |
|
probably null |
Het |
| Slc6a2 |
T |
C |
8: 92,995,994 |
F540L |
probably benign |
Het |
| Spag6l |
A |
G |
16: 16,780,733 |
V298A |
probably benign |
Het |
| Svep1 |
G |
T |
4: 58,068,533 |
Y3084* |
probably null |
Het |
| Tbc1d4 |
T |
A |
14: 101,444,566 |
D1235V |
probably benign |
Het |
| Tlr9 |
T |
C |
9: 106,225,007 |
L499P |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,713,834 |
S24609F |
probably damaging |
Het |
|
| Other mutations in Ap2b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01583:Ap2b1
|
APN |
11 |
83324611 |
missense |
possibly damaging |
0.61 |
|
IGL01753:Ap2b1
|
APN |
11 |
83321973 |
missense |
probably damaging |
1.00 |
|
IGL01992:Ap2b1
|
APN |
11 |
83335530 |
missense |
probably damaging |
1.00 |
|
IGL02192:Ap2b1
|
APN |
11 |
83346766 |
missense |
possibly damaging |
0.48 |
|
IGL02315:Ap2b1
|
APN |
11 |
83336799 |
missense |
probably damaging |
0.96 |
|
IGL03235:Ap2b1
|
APN |
11 |
83341384 |
missense |
probably benign |
0.41 |
|
P0045:Ap2b1
|
UTSW |
11 |
83368026 |
missense |
probably damaging |
1.00 |
|
R0121:Ap2b1
|
UTSW |
11 |
83321967 |
missense |
possibly damaging |
0.66 |
|
R0334:Ap2b1
|
UTSW |
11 |
83367874 |
splice site |
probably benign |
|
|
R1222:Ap2b1
|
UTSW |
11 |
83346738 |
missense |
probably benign |
0.06 |
|
R1297:Ap2b1
|
UTSW |
11 |
83333109 |
missense |
probably damaging |
1.00 |
|
R1653:Ap2b1
|
UTSW |
11 |
83346831 |
missense |
probably damaging |
1.00 |
|
R1719:Ap2b1
|
UTSW |
11 |
83324604 |
missense |
probably damaging |
1.00 |
|
R1885:Ap2b1
|
UTSW |
11 |
83390735 |
missense |
probably damaging |
0.99 |
|
R1886:Ap2b1
|
UTSW |
11 |
83390735 |
missense |
probably damaging |
0.99 |
|
R1965:Ap2b1
|
UTSW |
11 |
83346895 |
missense |
probably benign |
0.00 |
|
R1966:Ap2b1
|
UTSW |
11 |
83346895 |
missense |
probably benign |
0.00 |
|
R2046:Ap2b1
|
UTSW |
11 |
83336386 |
missense |
probably benign |
0.14 |
|
R2086:Ap2b1
|
UTSW |
11 |
83351118 |
missense |
possibly damaging |
0.88 |
|
R2132:Ap2b1
|
UTSW |
11 |
83324761 |
splice site |
probably benign |
|
|
R3615:Ap2b1
|
UTSW |
11 |
83324565 |
missense |
possibly damaging |
0.84 |
|
R3616:Ap2b1
|
UTSW |
11 |
83324565 |
missense |
possibly damaging |
0.84 |
|
R3983:Ap2b1
|
UTSW |
11 |
83390716 |
missense |
probably damaging |
1.00 |
|
R4124:Ap2b1
|
UTSW |
11 |
83365645 |
critical splice acceptor site |
probably null |
|
|
R4125:Ap2b1
|
UTSW |
11 |
83365645 |
critical splice acceptor site |
probably null |
|
|
R4198:Ap2b1
|
UTSW |
11 |
83342603 |
missense |
probably damaging |
1.00 |
|
R4202:Ap2b1
|
UTSW |
11 |
83335604 |
critical splice donor site |
probably null |
|
|
R4543:Ap2b1
|
UTSW |
11 |
83324650 |
missense |
probably damaging |
1.00 |
|
R4583:Ap2b1
|
UTSW |
11 |
83397779 |
missense |
probably benign |
0.00 |
|
R4589:Ap2b1
|
UTSW |
11 |
83333011 |
nonsense |
probably null |
|
|
R4916:Ap2b1
|
UTSW |
11 |
83390706 |
missense |
probably damaging |
1.00 |
|
R5005:Ap2b1
|
UTSW |
11 |
83339392 |
missense |
probably damaging |
1.00 |
|
R5385:Ap2b1
|
UTSW |
11 |
83342601 |
missense |
probably damaging |
1.00 |
|
R5510:Ap2b1
|
UTSW |
11 |
83336737 |
splice site |
probably null |
|
|
R5738:Ap2b1
|
UTSW |
11 |
83336430 |
splice site |
probably null |
|
|
R6023:Ap2b1
|
UTSW |
11 |
83335398 |
missense |
probably damaging |
0.99 |
|
R6269:Ap2b1
|
UTSW |
11 |
83346673 |
missense |
probably damaging |
1.00 |
|
R6383:Ap2b1
|
UTSW |
11 |
83346825 |
missense |
probably damaging |
1.00 |
|
R6416:Ap2b1
|
UTSW |
11 |
83308239 |
start codon destroyed |
probably null |
1.00 |
|
R6502:Ap2b1
|
UTSW |
11 |
83342679 |
missense |
probably damaging |
0.97 |
|
R6810:Ap2b1
|
UTSW |
11 |
83335491 |
missense |
possibly damaging |
0.89 |
|
R6969:Ap2b1
|
UTSW |
11 |
83389726 |
missense |
probably damaging |
0.99 |
|
R7238:Ap2b1
|
UTSW |
11 |
83333122 |
missense |
possibly damaging |
0.91 |
|
R7241:Ap2b1
|
UTSW |
11 |
83351105 |
missense |
probably benign |
0.16 |
|
R7429:Ap2b1
|
UTSW |
11 |
83367998 |
missense |
probably benign |
0.00 |
|
R7588:Ap2b1
|
UTSW |
11 |
83324522 |
missense |
probably benign |
0.00 |
|
R7635:Ap2b1
|
UTSW |
11 |
83389728 |
missense |
probably benign |
0.09 |
|
R7651:Ap2b1
|
UTSW |
11 |
83339430 |
critical splice donor site |
probably null |
|
|
R7753:Ap2b1
|
UTSW |
11 |
83367907 |
nonsense |
probably null |
|
|
R8468:Ap2b1
|
UTSW |
11 |
83351065 |
missense |
probably damaging |
1.00 |
|
R8943:Ap2b1
|
UTSW |
11 |
83346753 |
missense |
probably damaging |
1.00 |
|
R9093:Ap2b1
|
UTSW |
11 |
83324569 |
missense |
probably damaging |
1.00 |
|
R9621:Ap2b1
|
UTSW |
11 |
83402598 |
missense |
probably damaging |
1.00 |
|
X0064:Ap2b1
|
UTSW |
11 |
83324569 |
missense |
probably damaging |
1.00 |
|
Z1177:Ap2b1
|
UTSW |
11 |
83365753 |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-12-06 |
Incidental Mutation