Incidental Mutation 'R4335:Apbb1ip'
| ID |
323723 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4335 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
22664106-22765665 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 22761574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000014290
Gene: ENSMUSG00000026786
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
G |
A |
11: 110,042,843 (GRCm39) |
T402M |
probably damaging |
Het |
| Armh1 |
A |
T |
4: 117,071,660 (GRCm39) |
I308N |
probably damaging |
Het |
| Ceacam5 |
G |
A |
7: 17,486,054 (GRCm39) |
R517Q |
probably benign |
Het |
| Clic4 |
C |
T |
4: 134,945,916 (GRCm39) |
S167N |
probably benign |
Het |
| Ehbp1l1 |
A |
T |
19: 5,758,797 (GRCm39) |
L1644Q |
probably damaging |
Het |
| Erh |
A |
G |
12: 80,689,615 (GRCm39) |
L3P |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,879,802 (GRCm39) |
C375R |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fsd2 |
A |
T |
7: 81,191,813 (GRCm39) |
S521R |
probably damaging |
Het |
| Garin2 |
T |
C |
12: 78,759,006 (GRCm39) |
S109P |
possibly damaging |
Het |
| Hace1 |
A |
G |
10: 45,586,057 (GRCm39) |
Y865C |
probably damaging |
Het |
| Iqca1l |
A |
G |
5: 24,749,368 (GRCm39) |
L710P |
probably damaging |
Het |
| Iqcf1 |
G |
A |
9: 106,379,072 (GRCm39) |
R62H |
possibly damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Leng8 |
T |
C |
7: 4,150,037 (GRCm39) |
Y781H |
probably damaging |
Het |
| Med8 |
G |
T |
4: 118,266,567 (GRCm39) |
|
probably null |
Het |
| Myo19 |
G |
A |
11: 84,799,114 (GRCm39) |
A816T |
probably benign |
Het |
| Nat8f2 |
A |
G |
6: 85,845,233 (GRCm39) |
L43P |
probably damaging |
Het |
| Omd |
A |
C |
13: 49,743,712 (GRCm39) |
D254A |
probably benign |
Het |
| Psd2 |
G |
T |
18: 36,140,583 (GRCm39) |
A622S |
probably damaging |
Het |
| Rnf207 |
G |
A |
4: 152,400,062 (GRCm39) |
|
probably benign |
Het |
| Rsbn1l |
T |
C |
5: 21,113,191 (GRCm39) |
I444V |
probably null |
Het |
| Rxfp1 |
A |
G |
3: 79,594,105 (GRCm39) |
|
probably null |
Het |
| Selenot |
C |
A |
3: 58,492,722 (GRCm39) |
R70S |
possibly damaging |
Het |
| Sox6 |
A |
G |
7: 115,111,959 (GRCm39) |
S557P |
probably benign |
Het |
| Sp9 |
G |
A |
2: 73,104,633 (GRCm39) |
V396M |
probably damaging |
Het |
| Ston1 |
T |
C |
17: 88,943,125 (GRCm39) |
F177S |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,074,866 (GRCm39) |
E4602G |
probably damaging |
Het |
| Tbc1d19 |
A |
G |
5: 54,029,619 (GRCm39) |
T327A |
possibly damaging |
Het |
| Tsga13 |
T |
C |
6: 30,876,980 (GRCm39) |
D179G |
probably damaging |
Het |
| Wdr27 |
T |
A |
17: 15,141,018 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCTTTGTATTTGCAGACTCTC -3'
(R):5'- AAAGCAGTGTCATTAATGGCTG -3'
Sequencing Primer
(F):5'- ATTTGCAGACTCTCCTTCAAACATAC -3'
(R):5'- TCTAGCCTCGGAAGCTTTATG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation