Incidental Mutation 'R4920:Apbb1ip'
ID |
378499 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
042522-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4920 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
22664106-22765665 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 22709696 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 51
(D51G)
|
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 |
unknown
Transcript: ENSMUST00000014290
AA Change: D51G
|
SMART Domains |
Protein: ENSMUSP00000014290 Gene: ENSMUSG00000026786 AA Change: D51G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131195
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132993
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148315
|
Meta Mutation Damage Score |
0.4113 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 87.9%
|
Validation Efficiency |
96% (55/57) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700092K14Rik |
A |
T |
11: 114,089,871 (GRCm39) |
|
noncoding transcript |
Het |
Adcy4 |
C |
T |
14: 56,016,486 (GRCm39) |
D322N |
probably damaging |
Het |
Bmal1 |
A |
G |
7: 112,884,321 (GRCm39) |
T120A |
probably damaging |
Het |
Brca1 |
A |
T |
11: 101,415,785 (GRCm39) |
V783D |
probably damaging |
Het |
Ccdc141 |
T |
C |
2: 76,998,907 (GRCm39) |
D58G |
probably damaging |
Het |
Ccr9 |
G |
T |
9: 123,608,504 (GRCm39) |
G62V |
probably damaging |
Het |
Ces2b |
T |
C |
8: 105,563,538 (GRCm39) |
Y422H |
probably benign |
Het |
Cpa4 |
T |
C |
6: 30,568,462 (GRCm39) |
|
probably null |
Het |
Dennd3 |
A |
G |
15: 73,412,574 (GRCm39) |
H412R |
probably benign |
Het |
Dpy19l3 |
A |
T |
7: 35,407,467 (GRCm39) |
|
probably benign |
Het |
Dtwd2 |
G |
T |
18: 49,831,507 (GRCm39) |
R167S |
possibly damaging |
Het |
Dync1i2 |
G |
A |
2: 71,077,668 (GRCm39) |
R243Q |
probably damaging |
Het |
Ear2 |
G |
A |
14: 44,340,582 (GRCm39) |
G80E |
probably damaging |
Het |
Fam171b |
A |
G |
2: 83,710,703 (GRCm39) |
K792E |
possibly damaging |
Het |
Fam83b |
G |
A |
9: 76,399,150 (GRCm39) |
T651I |
probably benign |
Het |
Fcrl5 |
T |
G |
3: 87,351,480 (GRCm39) |
F243V |
probably damaging |
Het |
Galntl6 |
T |
C |
8: 58,880,807 (GRCm39) |
I115M |
probably damaging |
Het |
Glrx3 |
A |
G |
7: 137,065,859 (GRCm39) |
D163G |
probably null |
Het |
Gm14488 |
A |
T |
2: 30,605,044 (GRCm39) |
|
noncoding transcript |
Het |
Gm973 |
T |
C |
1: 59,666,725 (GRCm39) |
S683P |
probably benign |
Het |
Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
Gsdmd |
T |
C |
15: 75,736,206 (GRCm39) |
S112P |
probably damaging |
Het |
Ighv14-3 |
A |
G |
12: 114,023,877 (GRCm39) |
V6A |
probably benign |
Het |
Lca5l |
T |
A |
16: 95,980,035 (GRCm39) |
S32C |
probably damaging |
Het |
Lrba |
T |
A |
3: 86,571,765 (GRCm39) |
Y260* |
probably null |
Het |
Lyst |
T |
C |
13: 13,821,645 (GRCm39) |
S1340P |
possibly damaging |
Het |
Mfsd13a |
T |
G |
19: 46,355,655 (GRCm39) |
F59V |
probably damaging |
Het |
Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
Noa1 |
T |
C |
5: 77,454,334 (GRCm39) |
|
probably null |
Het |
Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
Pgm1 |
C |
T |
4: 99,843,930 (GRCm39) |
T571M |
probably damaging |
Het |
Pramel23 |
T |
C |
4: 143,425,853 (GRCm39) |
D30G |
probably benign |
Het |
Rfc1 |
C |
A |
5: 65,445,271 (GRCm39) |
V460F |
probably damaging |
Het |
Rrn3 |
A |
G |
16: 13,608,503 (GRCm39) |
D182G |
probably benign |
Het |
Sap25 |
T |
A |
5: 137,640,507 (GRCm39) |
|
probably benign |
Het |
Slc9a2 |
A |
G |
1: 40,794,878 (GRCm39) |
I480V |
probably benign |
Het |
Smo |
T |
C |
6: 29,759,593 (GRCm39) |
S642P |
probably damaging |
Het |
Tbc1d22a |
A |
C |
15: 86,195,949 (GRCm39) |
I307L |
probably benign |
Het |
Tent2 |
G |
A |
13: 93,322,833 (GRCm39) |
Q39* |
probably null |
Het |
Ubr3 |
A |
G |
2: 69,783,212 (GRCm39) |
Q716R |
probably benign |
Het |
Vmn2r96 |
A |
G |
17: 18,802,918 (GRCm39) |
E276G |
probably benign |
Het |
Zfp189 |
G |
A |
4: 49,529,302 (GRCm39) |
C135Y |
probably damaging |
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 |
IGL02987:Apbb1ip
|
APN |
2 |
22,757,649 (GRCm39) |
nonsense |
probably null |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTTCGAGTAGCACAGTCTGTTTC -3'
(R):5'- CGGGTCTTCTCTTTCATCATAGGTG -3'
Sequencing Primer
(F):5'- CGAGTAGCACAGTCTGTTTCAAAAC -3'
(R):5'- AAGTCCACGTTTCCTTGG -3'
|
Posted On |
2016-04-15 |