Incidental Mutation 'R3855:Apbb1ip'
| ID |
346535 |
| 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 |
040901-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3855 (G1)
|
| Quality Score |
43 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
22664106-22765665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22765187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 623
(S623P)
|
| 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: S623P
|
| SMART Domains |
Protein: ENSMUSP00000014290
Gene: ENSMUSG00000026786
AA Change: S623P
| 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 |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.3%
|
| Validation Efficiency |
98% (45/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
A |
T |
4: 63,291,705 (GRCm39) |
S1144R |
probably damaging |
Het |
| Apex1 |
A |
G |
14: 51,163,714 (GRCm39) |
T109A |
probably benign |
Het |
| Arhgef1 |
G |
A |
7: 24,618,697 (GRCm39) |
G107S |
probably damaging |
Het |
| Ccnq |
T |
C |
11: 78,642,013 (GRCm39) |
N159S |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,983,543 (GRCm39) |
|
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,256,742 (GRCm39) |
|
probably null |
Het |
| Dennd4c |
G |
A |
4: 86,698,084 (GRCm39) |
V191M |
probably damaging |
Het |
| Dthd1 |
T |
A |
5: 62,984,472 (GRCm39) |
H392Q |
probably benign |
Het |
| Dthd1 |
T |
C |
5: 63,045,366 (GRCm39) |
V710A |
probably benign |
Het |
| Galnt7 |
T |
C |
8: 57,985,658 (GRCm39) |
|
probably benign |
Het |
| Gm4868 |
A |
G |
5: 125,925,609 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr179 |
T |
C |
11: 97,232,260 (GRCm39) |
E648G |
probably damaging |
Het |
| Hk2 |
T |
C |
6: 82,713,657 (GRCm39) |
E447G |
possibly damaging |
Het |
| Idi1 |
G |
T |
13: 8,935,968 (GRCm39) |
A25S |
probably benign |
Het |
| Itgb3bp |
T |
C |
4: 99,686,957 (GRCm39) |
E76G |
possibly damaging |
Het |
| Khk |
A |
G |
5: 31,084,401 (GRCm39) |
D82G |
probably benign |
Het |
| Kif17 |
A |
G |
4: 138,018,821 (GRCm39) |
S533G |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,741,796 (GRCm39) |
|
probably benign |
Het |
| Kmt5c |
T |
C |
7: 4,749,255 (GRCm39) |
F104S |
probably damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Mdh1 |
C |
T |
11: 21,509,281 (GRCm39) |
V234I |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,329,415 (GRCm39) |
I120N |
possibly damaging |
Het |
| Nfia |
A |
G |
4: 97,951,259 (GRCm39) |
H362R |
probably damaging |
Het |
| Nhlrc2 |
T |
C |
19: 56,576,703 (GRCm39) |
|
probably null |
Het |
| Nme5 |
A |
G |
18: 34,702,884 (GRCm39) |
S135P |
possibly damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,884,957 (GRCm39) |
V252A |
probably damaging |
Het |
| Nufip2 |
T |
C |
11: 77,583,715 (GRCm39) |
V543A |
probably damaging |
Het |
| Or1l4b |
A |
T |
2: 37,036,835 (GRCm39) |
I204F |
possibly damaging |
Het |
| Or2y10 |
A |
G |
11: 49,454,918 (GRCm39) |
T57A |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,923,184 (GRCm39) |
S1020P |
possibly damaging |
Het |
| Pear1 |
T |
C |
3: 87,659,228 (GRCm39) |
H814R |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,915,047 (GRCm39) |
|
probably null |
Het |
| Pla2g4a |
T |
A |
1: 149,705,928 (GRCm39) |
I711F |
possibly damaging |
Het |
| Ppig |
G |
A |
2: 69,579,719 (GRCm39) |
V418I |
unknown |
Het |
| Prg4 |
T |
C |
1: 150,327,751 (GRCm39) |
Y234C |
probably damaging |
Het |
| Prmt9 |
G |
A |
8: 78,294,894 (GRCm39) |
V413I |
probably benign |
Het |
| Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
| Sepsecs |
G |
A |
5: 52,821,616 (GRCm39) |
R74C |
probably damaging |
Het |
| Sgsm1 |
A |
G |
5: 113,411,125 (GRCm39) |
V580A |
probably benign |
Het |
| Sh3bp1 |
C |
T |
15: 78,785,361 (GRCm39) |
|
probably benign |
Het |
| Sox11 |
C |
A |
12: 27,391,501 (GRCm39) |
G303C |
probably damaging |
Het |
| Usp54 |
C |
A |
14: 20,638,488 (GRCm39) |
M197I |
probably damaging |
Het |
| Vps26c |
A |
G |
16: 94,311,665 (GRCm39) |
F95L |
probably benign |
Het |
| Xylt1 |
T |
G |
7: 117,192,777 (GRCm39) |
L361R |
probably damaging |
Het |
| Zfp512 |
A |
G |
5: 31,637,593 (GRCm39) |
R505G |
possibly 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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGCCATCCAAGGTCAAGG -3'
(R):5'- GGCTATGAACATAGTATGCACAAC -3'
Sequencing Primer
(F):5'- ATCCAAGGTCAAGGGCCCTG -3'
(R):5'- TGCACAACAGTGAAGAGATTTTAC -3'
|
| Posted On |
2015-09-30 |
Incidental Mutation