Incidental Mutation 'R6542:Apbb1ip'
| ID |
520807 |
| 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 |
044668-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6542 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
22664106-22765665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 22764972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 551
(T551I)
|
| 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 benign
Transcript: ENSMUST00000014290
AA Change: T551I
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000014290
Gene: ENSMUSG00000026786
AA Change: T551I
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
98% (47/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,030,902 (GRCm39) |
L566Q |
probably damaging |
Het |
| Aqp5 |
A |
G |
15: 99,492,143 (GRCm39) |
E247G |
probably damaging |
Het |
| Bdkrb1 |
T |
C |
12: 105,571,352 (GRCm39) |
F306S |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,465,021 (GRCm39) |
V71I |
probably benign |
Het |
| Cog4 |
A |
G |
8: 111,577,994 (GRCm39) |
D36G |
probably damaging |
Het |
| Ctbp1 |
A |
G |
5: 33,426,915 (GRCm39) |
|
probably benign |
Het |
| Dync1li2 |
C |
T |
8: 105,169,396 (GRCm39) |
G13D |
probably benign |
Het |
| F5 |
T |
C |
1: 164,022,037 (GRCm39) |
V1504A |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,144,203 (GRCm39) |
L555P |
probably damaging |
Het |
| Fgfr2 |
A |
T |
7: 129,802,853 (GRCm39) |
S152T |
probably benign |
Het |
| Fign |
A |
T |
2: 63,810,639 (GRCm39) |
H210Q |
possibly damaging |
Het |
| Hbs1l |
A |
G |
10: 21,180,516 (GRCm39) |
N66S |
probably benign |
Het |
| Ighv12-3 |
A |
T |
12: 114,330,435 (GRCm39) |
M20K |
probably benign |
Het |
| Isoc2b |
T |
C |
7: 4,854,454 (GRCm39) |
K26E |
probably damaging |
Het |
| Katnal1 |
C |
T |
5: 148,813,016 (GRCm39) |
A467T |
probably benign |
Het |
| Loxl3 |
A |
G |
6: 83,025,147 (GRCm39) |
T292A |
probably benign |
Het |
| Map3k9 |
A |
G |
12: 81,769,028 (GRCm39) |
S1007P |
possibly damaging |
Het |
| Mcur1 |
A |
T |
13: 43,705,134 (GRCm39) |
V174D |
probably damaging |
Het |
| Metrnl |
A |
C |
11: 121,593,704 (GRCm39) |
|
probably null |
Het |
| Midn |
A |
G |
10: 79,992,418 (GRCm39) |
D490G |
probably damaging |
Het |
| Mmp10 |
G |
A |
9: 7,506,513 (GRCm39) |
A330T |
probably benign |
Het |
| Mto1 |
T |
A |
9: 78,364,510 (GRCm39) |
C281S |
possibly damaging |
Het |
| Nek10 |
A |
G |
14: 14,999,108 (GRCm38) |
I1036V |
probably benign |
Het |
| Odad1 |
G |
T |
7: 45,597,814 (GRCm39) |
A575S |
probably benign |
Het |
| Or13c7c |
A |
C |
4: 43,835,686 (GRCm39) |
L268R |
probably benign |
Het |
| Or1ab2 |
T |
C |
8: 72,863,715 (GRCm39) |
F102L |
probably damaging |
Het |
| Or2b7 |
T |
C |
13: 21,739,677 (GRCm39) |
T172A |
probably damaging |
Het |
| Or8b48 |
C |
A |
9: 38,450,733 (GRCm39) |
L181I |
probably benign |
Het |
| Parp4 |
A |
C |
14: 56,885,339 (GRCm39) |
I1473L |
unknown |
Het |
| Pcdhb9 |
A |
G |
18: 37,534,642 (GRCm39) |
Y212C |
probably damaging |
Het |
| Pilra |
G |
T |
5: 137,820,237 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
A |
G |
1: 20,655,927 (GRCm39) |
I202T |
probably benign |
Het |
| Ppfia2 |
A |
T |
10: 106,671,586 (GRCm39) |
E432D |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,194,851 (GRCm39) |
D298G |
possibly damaging |
Het |
| Prr22 |
T |
A |
17: 57,077,527 (GRCm39) |
|
probably null |
Het |
| Septin2 |
T |
A |
1: 93,425,188 (GRCm39) |
|
probably null |
Het |
| Setdb1 |
C |
A |
3: 95,247,618 (GRCm39) |
V426L |
probably damaging |
Het |
| Slc8b1 |
C |
T |
5: 120,667,582 (GRCm39) |
A405V |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,068,237 (GRCm39) |
R279* |
probably null |
Het |
| Ssh2 |
C |
G |
11: 77,340,976 (GRCm39) |
D709E |
possibly damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,724,389 (GRCm39) |
D373G |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,903,477 (GRCm39) |
L921S |
probably benign |
Het |
| Ubqln3 |
T |
C |
7: 103,790,824 (GRCm39) |
N422S |
probably benign |
Het |
| Vmn2r105 |
C |
T |
17: 20,448,803 (GRCm39) |
V125I |
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,060,413 (GRCm39) |
Y390* |
probably null |
Het |
| Zcwpw1 |
T |
C |
5: 137,810,282 (GRCm39) |
F353L |
probably damaging |
Het |
| Zfp462 |
G |
A |
4: 55,023,433 (GRCm39) |
C987Y |
probably damaging |
Het |
| Zkscan4 |
A |
G |
13: 21,668,508 (GRCm39) |
S320G |
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 |
|
|
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 |
|
|
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'- AATCCCATCAGCGGCAATGC -3'
(R):5'- GGCAATGCAGAGTCTTCAACAG -3'
Sequencing Primer
(F):5'- CACATGATGGATGTACTGTCAAG -3'
(R):5'- AGTCTTCAACAGCTGCAGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation