Incidental Mutation 'R3971:Apbb1ip'
| ID |
310957 |
| 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 |
040839-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3971 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
22664106-22765665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22713506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 120
(D120E)
|
| 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: D120E
|
| SMART Domains |
Protein: ENSMUSP00000014290
Gene: ENSMUSG00000026786
AA Change: D120E
| 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 |
0.0869 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
95% (38/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
C |
T |
8: 60,971,615 (GRCm39) |
P147L |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,107,339 (GRCm39) |
D791G |
probably damaging |
Het |
| Aunip |
A |
G |
4: 134,250,780 (GRCm39) |
K242E |
possibly damaging |
Het |
| Ccdc80 |
A |
G |
16: 44,916,183 (GRCm39) |
E313G |
probably benign |
Het |
| Cd72 |
C |
T |
4: 43,449,491 (GRCm39) |
R275H |
probably damaging |
Het |
| Chrnb1 |
A |
G |
11: 69,683,742 (GRCm39) |
|
probably benign |
Het |
| Coro2b |
C |
T |
9: 62,336,522 (GRCm39) |
A251T |
possibly damaging |
Het |
| Cspg4b |
A |
G |
13: 113,453,660 (GRCm39) |
E41G |
probably damaging |
Het |
| Ddr2 |
A |
G |
1: 169,815,986 (GRCm39) |
F574L |
probably damaging |
Het |
| Dock1 |
G |
A |
7: 134,348,637 (GRCm39) |
D284N |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,632,399 (GRCm39) |
H4506R |
probably benign |
Het |
| Fam174b |
T |
C |
7: 73,416,348 (GRCm39) |
V147A |
probably damaging |
Het |
| Glp2r |
T |
A |
11: 67,637,641 (GRCm39) |
D130V |
possibly damaging |
Het |
| Gm18856 |
A |
T |
13: 14,139,433 (GRCm39) |
|
probably benign |
Het |
| Gm7247 |
A |
G |
14: 51,602,841 (GRCm39) |
Y59C |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,411,514 (GRCm39) |
D1062G |
probably damaging |
Het |
| Ifit2 |
A |
G |
19: 34,551,441 (GRCm39) |
E327G |
probably benign |
Het |
| Ighv1-37 |
A |
T |
12: 114,860,079 (GRCm39) |
S43T |
probably damaging |
Het |
| Man2b1 |
A |
G |
8: 85,812,020 (GRCm39) |
N158S |
probably damaging |
Het |
| Mcoln1 |
T |
A |
8: 3,557,408 (GRCm39) |
I138K |
probably benign |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,218,857 (GRCm39) |
D193N |
possibly damaging |
Het |
| Myo5b |
C |
T |
18: 74,873,598 (GRCm39) |
L1501F |
probably damaging |
Het |
| Nckap1l |
A |
G |
15: 103,370,987 (GRCm39) |
K189E |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or6c69 |
T |
C |
10: 129,747,742 (GRCm39) |
N135S |
probably benign |
Het |
| Otop1 |
A |
G |
5: 38,457,533 (GRCm39) |
I431V |
probably benign |
Het |
| Psma8 |
A |
G |
18: 14,890,444 (GRCm39) |
K195E |
possibly damaging |
Het |
| Rbm25 |
A |
G |
12: 83,721,982 (GRCm39) |
T723A |
probably benign |
Het |
| Sema3b |
A |
G |
9: 107,477,567 (GRCm39) |
S485P |
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,063,268 (GRCm39) |
L916Q |
possibly damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,849,971 (GRCm39) |
D719V |
possibly damaging |
Het |
| Synj1 |
A |
G |
16: 90,788,491 (GRCm39) |
S86P |
probably damaging |
Het |
| Tmem130 |
T |
A |
5: 144,692,131 (GRCm39) |
H91L |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,842,562 (GRCm39) |
D288G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vps35l |
T |
C |
7: 118,433,022 (GRCm39) |
I585T |
probably damaging |
Het |
| Wac |
T |
C |
18: 7,916,175 (GRCm39) |
V303A |
probably damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,311,932 (GRCm39) |
V254A |
probably benign |
Het |
| Zfp993 |
A |
G |
4: 146,742,089 (GRCm39) |
T138A |
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 |
|
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 |
|
|
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'- AGACCAAGATTTAGATGCCCTC -3'
(R):5'- TCAGAGGTTTAGGCATACAAACTG -3'
Sequencing Primer
(F):5'- CTCATGGCAGATCTGGTAGCAG -3'
(R):5'- TTGTCACATCAAAGAAAGTCCAAGG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation