Incidental Mutation 'IGL01753:Ap2b1'
| ID |
153147 |
| 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 # |
IGL01753
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
83189850-83295861 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83212799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 60
(T60A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018875]
[ENSMUST00000065692]
[ENSMUST00000176430]
[ENSMUST00000176523]
[ENSMUST00000176944]
|
| AlphaFold |
Q9DBG3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018875
AA Change: T60A
PolyPhen 2
Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: T60A
| 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 |
possibly damaging
Transcript: ENSMUST00000065692
AA Change: T60A
PolyPhen 2
Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: T60A
| 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: T60A
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: T60A
| 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: T60A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: T60A
| 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
AA Change: T60A
PolyPhen 2
Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000134798
Gene: ENSMUSG00000035152
AA Change: T60A
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
A |
G |
16: 85,599,112 (GRCm39) |
F163L |
probably benign |
Het |
| Casp3 |
A |
G |
8: 47,082,776 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,919,438 (GRCm39) |
Y118C |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,087,015 (GRCm39) |
|
probably benign |
Het |
| Clec4b2 |
A |
T |
6: 123,179,169 (GRCm39) |
Y157F |
possibly damaging |
Het |
| Crppa |
C |
T |
12: 36,523,176 (GRCm39) |
L202F |
probably damaging |
Het |
| Dlg4 |
T |
A |
11: 69,932,173 (GRCm39) |
F480I |
probably damaging |
Het |
| Dock8 |
T |
A |
19: 25,038,656 (GRCm39) |
|
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,530,906 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
T |
C |
1: 132,390,677 (GRCm39) |
Y830H |
probably damaging |
Het |
| Hook2 |
T |
C |
8: 85,719,865 (GRCm39) |
|
probably null |
Het |
| Ighv2-9-1 |
T |
C |
12: 113,733,548 (GRCm39) |
D91G |
probably damaging |
Het |
| Igkv12-41 |
T |
C |
6: 69,835,510 (GRCm39) |
R81G |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,067,794 (GRCm39) |
S1766T |
probably damaging |
Het |
| Mdn1 |
G |
A |
4: 32,708,483 (GRCm39) |
V1670I |
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,350,274 (GRCm39) |
F124L |
probably damaging |
Het |
| Nek2 |
C |
T |
1: 191,557,598 (GRCm39) |
Q187* |
probably null |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pif1 |
G |
A |
9: 65,500,590 (GRCm39) |
G505D |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,287,413 (GRCm39) |
I495F |
probably benign |
Het |
| Ppp1r21 |
T |
C |
17: 88,869,530 (GRCm39) |
|
probably benign |
Het |
| Prex1 |
T |
C |
2: 166,444,802 (GRCm39) |
I282V |
probably benign |
Het |
| Pzp |
A |
T |
6: 128,479,146 (GRCm39) |
I669N |
possibly damaging |
Het |
| Sipa1l2 |
T |
A |
8: 126,180,031 (GRCm39) |
|
probably benign |
Het |
| Top2a |
T |
A |
11: 98,898,100 (GRCm39) |
T689S |
probably damaging |
Het |
| Trerf1 |
T |
A |
17: 47,626,362 (GRCm39) |
|
noncoding transcript |
Het |
| Uso1 |
T |
C |
5: 92,300,777 (GRCm39) |
|
probably null |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,674,139 (GRCm39) |
V399E |
probably damaging |
Het |
| Zcchc7 |
A |
G |
4: 44,929,217 (GRCm39) |
I390V |
probably benign |
Het |
| Zfp90 |
C |
T |
8: 107,150,782 (GRCm39) |
T165I |
probably benign |
Het |
|
| Other mutations in Ap2b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00864:Ap2b1
|
APN |
11 |
83,223,984 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01583:Ap2b1
|
APN |
11 |
83,215,437 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01992:Ap2b1
|
APN |
11 |
83,226,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02192:Ap2b1
|
APN |
11 |
83,237,592 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02315:Ap2b1
|
APN |
11 |
83,227,625 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03235:Ap2b1
|
APN |
11 |
83,232,210 (GRCm39) |
missense |
probably benign |
0.41 |
|
P0045:Ap2b1
|
UTSW |
11 |
83,258,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0121:Ap2b1
|
UTSW |
11 |
83,212,793 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0334:Ap2b1
|
UTSW |
11 |
83,258,700 (GRCm39) |
splice site |
probably benign |
|
|
R1222:Ap2b1
|
UTSW |
11 |
83,237,564 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1297:Ap2b1
|
UTSW |
11 |
83,223,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1653:Ap2b1
|
UTSW |
11 |
83,237,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1719:Ap2b1
|
UTSW |
11 |
83,215,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1885:Ap2b1
|
UTSW |
11 |
83,281,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1886:Ap2b1
|
UTSW |
11 |
83,281,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1965:Ap2b1
|
UTSW |
11 |
83,237,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1966:Ap2b1
|
UTSW |
11 |
83,237,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2046:Ap2b1
|
UTSW |
11 |
83,227,212 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2086:Ap2b1
|
UTSW |
11 |
83,241,944 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2132:Ap2b1
|
UTSW |
11 |
83,215,587 (GRCm39) |
splice site |
probably benign |
|
|
R3615:Ap2b1
|
UTSW |
11 |
83,215,391 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3616:Ap2b1
|
UTSW |
11 |
83,215,391 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3983:Ap2b1
|
UTSW |
11 |
83,281,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4124:Ap2b1
|
UTSW |
11 |
83,256,471 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4125:Ap2b1
|
UTSW |
11 |
83,256,471 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4198:Ap2b1
|
UTSW |
11 |
83,233,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4202:Ap2b1
|
UTSW |
11 |
83,226,430 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4543:Ap2b1
|
UTSW |
11 |
83,215,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4583:Ap2b1
|
UTSW |
11 |
83,288,605 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4589:Ap2b1
|
UTSW |
11 |
83,223,837 (GRCm39) |
nonsense |
probably null |
|
|
R4916:Ap2b1
|
UTSW |
11 |
83,281,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5005:Ap2b1
|
UTSW |
11 |
83,230,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Ap2b1
|
UTSW |
11 |
83,233,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5510:Ap2b1
|
UTSW |
11 |
83,227,563 (GRCm39) |
splice site |
probably null |
|
|
R5738:Ap2b1
|
UTSW |
11 |
83,227,256 (GRCm39) |
splice site |
probably null |
|
|
R6023:Ap2b1
|
UTSW |
11 |
83,226,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6269:Ap2b1
|
UTSW |
11 |
83,237,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6383:Ap2b1
|
UTSW |
11 |
83,237,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6416:Ap2b1
|
UTSW |
11 |
83,199,065 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R6502:Ap2b1
|
UTSW |
11 |
83,233,505 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6810:Ap2b1
|
UTSW |
11 |
83,226,317 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6969:Ap2b1
|
UTSW |
11 |
83,280,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7238:Ap2b1
|
UTSW |
11 |
83,223,948 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7241:Ap2b1
|
UTSW |
11 |
83,241,931 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7429:Ap2b1
|
UTSW |
11 |
83,258,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7588:Ap2b1
|
UTSW |
11 |
83,215,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7635:Ap2b1
|
UTSW |
11 |
83,280,554 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7651:Ap2b1
|
UTSW |
11 |
83,230,256 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7753:Ap2b1
|
UTSW |
11 |
83,258,733 (GRCm39) |
nonsense |
probably null |
|
|
R8468:Ap2b1
|
UTSW |
11 |
83,241,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8943:Ap2b1
|
UTSW |
11 |
83,237,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9093:Ap2b1
|
UTSW |
11 |
83,215,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9621:Ap2b1
|
UTSW |
11 |
83,293,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Ap2b1
|
UTSW |
11 |
83,215,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ap2b1
|
UTSW |
11 |
83,256,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-02-04 |
Incidental Mutation