Incidental Mutation 'IGL02987:Apbb1ip'
| ID |
406771 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Apbb1ip
|
| Ensembl Gene |
ENSMUSG00000026786 |
| Gene Name |
amyloid beta precursor protein binding family B member 1 interacting protein |
| Synonyms |
proline-rich protein 48, Prp48, 9930118P07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02987
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
22664106-22765665 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 22757649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 422
(Y422*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014290]
|
| AlphaFold |
Q8R5A3 |
| PDB Structure |
Crystal structure of the Ras-associating and pleckstrin-homology domains of RIAM [X-RAY DIFFRACTION]
Crystal structure of RIAM RA-PH domains in complex with GTP bound Rap1 [X-RAY DIFFRACTION]
Crystal structure of RIAM TBS1 in complex with talin R7R8 domains [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000014290
AA Change: Y422*
|
| SMART Domains |
Protein: ENSMUSP00000014290
Gene: ENSMUSG00000026786
AA Change: Y422*
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3ZDL|B
|
1 |
31 |
1e-11 |
PDB |
|
low complexity region
|
32 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
62 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
118 |
N/A |
INTRINSIC |
|
RA
|
179 |
266 |
1.15e-22 |
SMART |
|
low complexity region
|
280 |
299 |
N/A |
INTRINSIC |
|
PH
|
314 |
424 |
2.05e-10 |
SMART |
|
low complexity region
|
516 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
553 |
570 |
N/A |
INTRINSIC |
|
low complexity region
|
577 |
598 |
N/A |
INTRINSIC |
|
low complexity region
|
622 |
636 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and healthy with no apparent defects in platelet integrin activation and function, hemostasis, or arterial thrombus formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1e1 |
T |
C |
13: 4,643,591 (GRCm39) |
D222G |
probably damaging |
Het |
| Asf1a |
T |
C |
10: 53,473,367 (GRCm39) |
F28L |
probably damaging |
Het |
| Atp6v1c1 |
T |
A |
15: 38,690,806 (GRCm39) |
M319K |
possibly damaging |
Het |
| Bsn |
A |
G |
9: 108,003,503 (GRCm39) |
S301P |
probably benign |
Het |
| Cds1 |
A |
G |
5: 101,960,391 (GRCm39) |
I281V |
possibly damaging |
Het |
| Col4a4 |
T |
C |
1: 82,476,646 (GRCm39) |
|
probably benign |
Het |
| Coq2 |
G |
A |
5: 100,811,554 (GRCm39) |
Q103* |
probably null |
Het |
| Dgkh |
A |
G |
14: 78,827,312 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
A |
G |
11: 65,746,098 (GRCm39) |
I4005T |
probably damaging |
Het |
| Dnah9 |
C |
A |
11: 65,732,099 (GRCm39) |
R4269L |
probably benign |
Het |
| F2rl1 |
T |
A |
13: 95,650,741 (GRCm39) |
Q47L |
probably benign |
Het |
| Fhod3 |
T |
C |
18: 25,246,610 (GRCm39) |
V1272A |
possibly damaging |
Het |
| Gdpd4 |
T |
C |
7: 97,610,758 (GRCm39) |
|
probably benign |
Het |
| Gfral |
A |
G |
9: 76,104,583 (GRCm39) |
V143A |
possibly damaging |
Het |
| Gltp |
A |
C |
5: 114,812,243 (GRCm39) |
F88V |
probably benign |
Het |
| Hectd1 |
T |
G |
12: 51,791,550 (GRCm39) |
K2565T |
probably damaging |
Het |
| Jade2 |
A |
G |
11: 51,721,308 (GRCm39) |
S207P |
probably damaging |
Het |
| Khdc3 |
A |
G |
9: 73,009,948 (GRCm39) |
I53V |
possibly damaging |
Het |
| Lce1a1 |
T |
C |
3: 92,554,409 (GRCm39) |
T22A |
unknown |
Het |
| Lgals9 |
A |
T |
11: 78,858,303 (GRCm39) |
H196Q |
possibly damaging |
Het |
| Lrrc37a |
A |
T |
11: 103,391,239 (GRCm39) |
N1395K |
probably benign |
Het |
| Mast1 |
C |
T |
8: 85,652,348 (GRCm39) |
V268I |
possibly damaging |
Het |
| Myh11 |
T |
G |
16: 14,050,396 (GRCm39) |
E523A |
probably damaging |
Het |
| Napb |
T |
C |
2: 148,539,431 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
G |
A |
7: 23,000,858 (GRCm39) |
R51H |
probably damaging |
Het |
| Ola1 |
T |
C |
2: 72,987,242 (GRCm39) |
D130G |
probably benign |
Het |
| Or8c13 |
A |
T |
9: 38,091,919 (GRCm39) |
S67T |
possibly damaging |
Het |
| Pard3 |
G |
A |
8: 128,115,972 (GRCm39) |
C687Y |
probably damaging |
Het |
| Rassf9 |
A |
G |
10: 102,381,109 (GRCm39) |
T164A |
possibly damaging |
Het |
| Sema3a |
A |
G |
5: 13,615,863 (GRCm39) |
Y429C |
probably damaging |
Het |
| Slc25a54 |
T |
C |
3: 109,023,653 (GRCm39) |
V416A |
probably benign |
Het |
| Slc30a5 |
T |
C |
13: 100,940,423 (GRCm39) |
T631A |
probably damaging |
Het |
| Sorl1 |
A |
T |
9: 41,952,349 (GRCm39) |
C736S |
probably damaging |
Het |
| Tet3 |
A |
T |
6: 83,345,074 (GRCm39) |
S1788T |
probably damaging |
Het |
| Trim42 |
A |
G |
9: 97,247,868 (GRCm39) |
V276A |
probably benign |
Het |
|
| Other mutations in Apbb1ip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01420:Apbb1ip
|
APN |
2 |
22,748,292 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL01447:Apbb1ip
|
APN |
2 |
22,743,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03329:Apbb1ip
|
APN |
2 |
22,757,729 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
intelligence
|
UTSW |
2 |
22,725,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
psyops
|
UTSW |
2 |
22,743,132 (GRCm39) |
nonsense |
probably null |
|
|
Simulacrum
|
UTSW |
2 |
22,757,005 (GRCm39) |
critical splice donor site |
probably null |
|
|
Tangles
|
UTSW |
2 |
22,713,610 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0374:Apbb1ip
|
UTSW |
2 |
22,709,717 (GRCm39) |
splice site |
probably benign |
|
|
R0842:Apbb1ip
|
UTSW |
2 |
22,757,678 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1678:Apbb1ip
|
UTSW |
2 |
22,764,892 (GRCm39) |
splice site |
probably null |
|
|
R3855:Apbb1ip
|
UTSW |
2 |
22,765,187 (GRCm39) |
missense |
unknown |
|
|
R3971:Apbb1ip
|
UTSW |
2 |
22,713,506 (GRCm39) |
missense |
unknown |
|
|
R4335:Apbb1ip
|
UTSW |
2 |
22,761,574 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4569:Apbb1ip
|
UTSW |
2 |
22,739,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4742:Apbb1ip
|
UTSW |
2 |
22,716,928 (GRCm39) |
missense |
unknown |
|
|
R4804:Apbb1ip
|
UTSW |
2 |
22,713,610 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4820:Apbb1ip
|
UTSW |
2 |
22,765,265 (GRCm39) |
missense |
unknown |
|
|
R4854:Apbb1ip
|
UTSW |
2 |
22,743,214 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4899:Apbb1ip
|
UTSW |
2 |
22,713,361 (GRCm39) |
missense |
unknown |
|
|
R4920:Apbb1ip
|
UTSW |
2 |
22,709,696 (GRCm39) |
missense |
unknown |
|
|
R5283:Apbb1ip
|
UTSW |
2 |
22,757,683 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5445:Apbb1ip
|
UTSW |
2 |
22,725,960 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6346:Apbb1ip
|
UTSW |
2 |
22,757,005 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6495:Apbb1ip
|
UTSW |
2 |
22,743,132 (GRCm39) |
nonsense |
probably null |
|
|
R6542:Apbb1ip
|
UTSW |
2 |
22,764,972 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6550:Apbb1ip
|
UTSW |
2 |
22,748,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7011:Apbb1ip
|
UTSW |
2 |
22,725,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7304:Apbb1ip
|
UTSW |
2 |
22,743,147 (GRCm39) |
splice site |
probably null |
|
|
R7554:Apbb1ip
|
UTSW |
2 |
22,713,558 (GRCm39) |
missense |
unknown |
|
|
R7690:Apbb1ip
|
UTSW |
2 |
22,706,996 (GRCm39) |
missense |
unknown |
|
|
R7723:Apbb1ip
|
UTSW |
2 |
22,761,574 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7831:Apbb1ip
|
UTSW |
2 |
22,756,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7861:Apbb1ip
|
UTSW |
2 |
22,706,990 (GRCm39) |
missense |
unknown |
|
|
R8270:Apbb1ip
|
UTSW |
2 |
22,765,004 (GRCm39) |
missense |
unknown |
|
|
R8523:Apbb1ip
|
UTSW |
2 |
22,709,648 (GRCm39) |
missense |
unknown |
|
|
R9158:Apbb1ip
|
UTSW |
2 |
22,764,951 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9696:Apbb1ip
|
UTSW |
2 |
22,725,989 (GRCm39) |
missense |
probably benign |
0.11 |
|
X0014:Apbb1ip
|
UTSW |
2 |
22,713,566 (GRCm39) |
small deletion |
probably benign |
|
|
Z1177:Apbb1ip
|
UTSW |
2 |
22,765,115 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation