Incidental Mutation 'R0477:Ap1b1'
| ID |
41861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ap1b1
|
| Ensembl Gene |
ENSMUSG00000009090 |
| Gene Name |
adaptor protein complex AP-1, beta 1 subunit |
| Synonyms |
Adtb1, beta-prime adaptin, b2b1660Clo |
| MMRRC Submission |
038677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.770)
|
| Stock # |
R0477 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
11 |
| Chromosomal Location |
4936824-4992791 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 4981787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 538
(C538F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099134
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009234]
[ENSMUST00000101613]
[ENSMUST00000109897]
|
| AlphaFold |
O35643 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009234
AA Change: C565F
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000009234
Gene: ENSMUSG00000009090
AA Change: C565F
| Domain | Start | End | E-Value | Type |
|---|
|
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: C538F
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099134
Gene: ENSMUSG00000009090
AA Change: C538F
| Domain | Start | End | E-Value | Type |
|---|
|
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: C538F
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000105523
Gene: ENSMUSG00000009090
AA Change: C538F
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000145704
|
| Meta Mutation Damage Score |
0.2962 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.1%
|
| Validation Efficiency |
98% (57/58) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
A |
T |
11: 117,693,787 (GRCm39) |
I85F |
probably benign |
Het |
| Abca8a |
T |
A |
11: 109,956,051 (GRCm39) |
I778L |
probably benign |
Het |
| Abcc5 |
T |
C |
16: 20,187,319 (GRCm39) |
N889S |
possibly damaging |
Het |
| Abcc5 |
T |
C |
16: 20,217,635 (GRCm39) |
N359D |
probably damaging |
Het |
| Adam23 |
A |
G |
1: 63,596,559 (GRCm39) |
|
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,832,366 (GRCm39) |
D913E |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,890,766 (GRCm39) |
S882T |
probably benign |
Het |
| C9 |
A |
T |
15: 6,487,664 (GRCm39) |
E43D |
probably benign |
Het |
| Cacna2d1 |
T |
C |
5: 16,399,796 (GRCm39) |
|
probably null |
Het |
| Ces2a |
A |
G |
8: 105,464,169 (GRCm39) |
E267G |
probably damaging |
Het |
| Cfap61 |
A |
G |
2: 145,781,836 (GRCm39) |
D23G |
probably damaging |
Het |
| Col9a3 |
T |
G |
2: 180,251,263 (GRCm39) |
|
probably benign |
Het |
| Cstl1 |
T |
C |
2: 148,592,908 (GRCm39) |
V21A |
probably benign |
Het |
| Cth |
A |
T |
3: 157,610,812 (GRCm39) |
L340Q |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,974,054 (GRCm39) |
M2813K |
probably damaging |
Het |
| Fam107a |
A |
T |
14: 8,301,168 (GRCm38) |
Y21N |
probably benign |
Het |
| Fam184a |
G |
A |
10: 53,531,175 (GRCm39) |
T733M |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,894,806 (GRCm39) |
V21A |
probably benign |
Het |
| Foxc2 |
A |
T |
8: 121,844,774 (GRCm39) |
Y474F |
probably damaging |
Het |
| Hnf4g |
G |
T |
3: 3,716,851 (GRCm39) |
|
probably benign |
Het |
| Hnrnpll |
T |
C |
17: 80,369,261 (GRCm39) |
D54G |
unknown |
Het |
| Hydin |
A |
G |
8: 111,145,130 (GRCm39) |
Y827C |
probably damaging |
Het |
| Il23r |
A |
G |
6: 67,429,361 (GRCm39) |
V327A |
probably benign |
Het |
| Itih4 |
T |
A |
14: 30,611,631 (GRCm39) |
V118D |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,751,462 (GRCm39) |
|
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,376,268 (GRCm39) |
D1546G |
possibly damaging |
Het |
| Large1 |
A |
T |
8: 73,544,710 (GRCm39) |
D689E |
probably damaging |
Het |
| Map1a |
T |
C |
2: 121,132,582 (GRCm39) |
S895P |
probably damaging |
Het |
| Mdn1 |
A |
C |
4: 32,750,928 (GRCm39) |
E4487A |
probably benign |
Het |
| Myo15a |
T |
C |
11: 60,411,740 (GRCm39) |
|
probably null |
Het |
| Nlrp4f |
C |
A |
13: 65,338,720 (GRCm39) |
R639L |
probably benign |
Het |
| Or4f52 |
A |
G |
2: 111,062,009 (GRCm39) |
F43S |
probably benign |
Het |
| Or8h10 |
T |
A |
2: 86,808,567 (GRCm39) |
D191V |
probably damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,125,114 (GRCm39) |
N229S |
probably damaging |
Het |
| Pcnx2 |
A |
G |
8: 126,488,306 (GRCm39) |
V1746A |
probably damaging |
Het |
| Phf12 |
A |
T |
11: 77,913,896 (GRCm39) |
H446L |
possibly damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,622,138 (GRCm39) |
|
probably null |
Het |
| Psmb9 |
A |
C |
17: 34,401,238 (GRCm39) |
V207G |
probably damaging |
Het |
| Ptprh |
C |
A |
7: 4,600,997 (GRCm39) |
D127Y |
possibly damaging |
Het |
| Rabep1 |
T |
G |
11: 70,811,733 (GRCm39) |
M535R |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Scin |
T |
C |
12: 40,110,515 (GRCm39) |
D711G |
probably damaging |
Het |
| Slfn4 |
T |
C |
11: 83,079,507 (GRCm39) |
I6T |
probably benign |
Het |
| Sos1 |
T |
A |
17: 80,742,363 (GRCm39) |
E388V |
possibly damaging |
Het |
| Spag5 |
A |
C |
11: 78,205,024 (GRCm39) |
Q603P |
probably damaging |
Het |
| Supv3l1 |
G |
T |
10: 62,266,364 (GRCm39) |
T604N |
probably damaging |
Het |
| Tbx5 |
A |
G |
5: 120,021,184 (GRCm39) |
S397G |
possibly damaging |
Het |
| Tmprss5 |
A |
G |
9: 49,026,465 (GRCm39) |
D383G |
possibly damaging |
Het |
| Trim43b |
A |
G |
9: 88,972,654 (GRCm39) |
W167R |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,609,160 (GRCm39) |
D1283V |
probably damaging |
Het |
| Upf1 |
A |
T |
8: 70,786,730 (GRCm39) |
V918D |
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,742,776 (GRCm39) |
I383M |
probably benign |
Het |
| Zc3h3 |
G |
T |
15: 75,648,932 (GRCm39) |
S733R |
possibly damaging |
Het |
| Zcchc2 |
C |
T |
1: 105,958,000 (GRCm39) |
P426S |
possibly damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,719,874 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ap1b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
IGL02318:Ap1b1
|
APN |
11 |
4,969,294 (GRCm39) |
missense |
probably benign |
0.14 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGACAATCCAGACCTTCGGGAC -3'
(R):5'- ACTGTCATTGGGACAAACTAGCCAC -3'
Sequencing Primer
(F):5'- GTAGCTGCTAAAGAGGTGGT -3'
(R):5'- ATGGACACTTTGTCTCAGCAAC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation