Incidental Mutation 'IGL03411:Coro1b'
| ID |
421819 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Coro1b
|
| Ensembl Gene |
ENSMUSG00000024835 |
| Gene Name |
coronin, actin binding protein 1B |
| Synonyms |
coronin 2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03411
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
4198618-4204034 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 4200225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008893]
[ENSMUST00000061086]
[ENSMUST00000096338]
[ENSMUST00000123874]
|
| AlphaFold |
Q9WUM3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008893
|
| SMART Domains |
Protein: ENSMUSP00000008893
Gene: ENSMUSG00000024835
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
5 |
69 |
1.48e-37 |
SMART |
|
WD40
|
68 |
111 |
2.1e-7 |
SMART |
|
WD40
|
121 |
161 |
1.44e-5 |
SMART |
|
WD40
|
164 |
204 |
4.08e-5 |
SMART |
|
DUF1900
|
258 |
392 |
6.41e-88 |
SMART |
|
coiled coil region
|
445 |
482 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061086
|
| SMART Domains |
Protein: ENSMUSP00000053412
Gene: ENSMUSG00000045826
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
|
Pfam:PTPRCAP
|
58 |
197 |
8.1e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096338
|
| SMART Domains |
Protein: ENSMUSP00000094062
Gene: ENSMUSG00000044724
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
47 |
295 |
7e-19 |
PFAM |
|
low complexity region
|
347 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
419 |
433 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123874
|
| SMART Domains |
Protein: ENSMUSP00000118450
Gene: ENSMUSG00000024835
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
5 |
69 |
1.48e-37 |
SMART |
|
WD40
|
68 |
111 |
2.1e-7 |
SMART |
|
WD40
|
121 |
161 |
1.44e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134194
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140419
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148189
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142878
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148733
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143613
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the coronin family, such as CORO1B, are WD repeat-containing actin-binding proteins that regulate cell motility (Cai et al., 2005 [PubMed 16027158]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal mast cell degranulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,218,310 (GRCm39) |
I305T |
probably damaging |
Het |
| Adamts18 |
G |
A |
8: 114,490,929 (GRCm39) |
Q513* |
probably null |
Het |
| Adamts6 |
A |
G |
13: 104,450,842 (GRCm39) |
I342V |
possibly damaging |
Het |
| Agtr1a |
A |
G |
13: 30,565,582 (GRCm39) |
T216A |
possibly damaging |
Het |
| Cyp4a10 |
G |
A |
4: 115,382,890 (GRCm39) |
|
probably null |
Het |
| Cyp4x1 |
T |
A |
4: 114,965,982 (GRCm39) |
Q448L |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,430,916 (GRCm39) |
|
probably null |
Het |
| Exoc1 |
C |
A |
5: 76,690,042 (GRCm39) |
A194D |
probably damaging |
Het |
| Fastkd1 |
A |
C |
2: 69,537,703 (GRCm39) |
V293G |
probably damaging |
Het |
| Gm5773 |
T |
C |
3: 93,681,264 (GRCm39) |
L312P |
probably damaging |
Het |
| Hhla1 |
A |
G |
15: 65,802,078 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
A |
T |
2: 31,236,649 (GRCm39) |
E397D |
possibly damaging |
Het |
| Lig1 |
C |
T |
7: 13,030,694 (GRCm39) |
R449C |
probably damaging |
Het |
| Mdc1 |
A |
G |
17: 36,164,018 (GRCm39) |
T1189A |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,575,436 (GRCm39) |
M1397I |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,980,330 (GRCm39) |
E1484G |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,182,890 (GRCm39) |
I1019V |
probably benign |
Het |
| Nid1 |
T |
C |
13: 13,612,474 (GRCm39) |
L63P |
probably damaging |
Het |
| Ogfod3 |
A |
T |
11: 121,068,630 (GRCm39) |
*316R |
probably null |
Het |
| Or6z7 |
T |
C |
7: 6,483,435 (GRCm39) |
K240R |
probably benign |
Het |
| Pdpk1 |
A |
T |
17: 24,320,618 (GRCm39) |
V193E |
probably damaging |
Het |
| Phf3 |
G |
T |
1: 30,843,482 (GRCm39) |
P1826T |
probably damaging |
Het |
| Pnliprp2 |
A |
G |
19: 58,748,847 (GRCm39) |
I51V |
probably benign |
Het |
| Prpf4b |
C |
T |
13: 35,079,342 (GRCm39) |
L739F |
probably damaging |
Het |
| Rcbtb1 |
T |
A |
14: 59,447,419 (GRCm39) |
M1K |
probably null |
Het |
| Rin2 |
A |
G |
2: 145,702,864 (GRCm39) |
E520G |
probably damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Shpk |
A |
G |
11: 73,105,861 (GRCm39) |
T238A |
probably benign |
Het |
| Tmem132d |
A |
T |
5: 128,061,347 (GRCm39) |
Y418* |
probably null |
Het |
| Tpte |
T |
C |
8: 22,815,553 (GRCm39) |
V212A |
possibly damaging |
Het |
| Trim55 |
A |
T |
3: 19,713,354 (GRCm39) |
Y135F |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,598,456 (GRCm39) |
A19486T |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,708,340 (GRCm39) |
N22K |
probably benign |
Het |
| Vmn2r63 |
T |
C |
7: 42,577,368 (GRCm39) |
D390G |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,806,634 (GRCm39) |
E527G |
possibly damaging |
Het |
| Vps13d |
C |
T |
4: 144,875,894 (GRCm39) |
E1538K |
probably damaging |
Het |
| Zfp64 |
T |
C |
2: 168,793,462 (GRCm39) |
|
probably null |
Het |
| Zfp827 |
A |
G |
8: 79,803,116 (GRCm39) |
S563G |
probably damaging |
Het |
|
| Other mutations in Coro1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02986:Coro1b
|
APN |
19 |
4,199,470 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0189:Coro1b
|
UTSW |
19 |
4,203,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0410:Coro1b
|
UTSW |
19 |
4,199,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1165:Coro1b
|
UTSW |
19 |
4,199,901 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1302:Coro1b
|
UTSW |
19 |
4,199,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1519:Coro1b
|
UTSW |
19 |
4,200,583 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4085:Coro1b
|
UTSW |
19 |
4,203,618 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4528:Coro1b
|
UTSW |
19 |
4,199,980 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4692:Coro1b
|
UTSW |
19 |
4,199,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4919:Coro1b
|
UTSW |
19 |
4,200,709 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5433:Coro1b
|
UTSW |
19 |
4,203,449 (GRCm39) |
missense |
probably benign |
|
|
R5650:Coro1b
|
UTSW |
19 |
4,200,610 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5870:Coro1b
|
UTSW |
19 |
4,199,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6862:Coro1b
|
UTSW |
19 |
4,200,770 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7332:Coro1b
|
UTSW |
19 |
4,199,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7511:Coro1b
|
UTSW |
19 |
4,202,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7559:Coro1b
|
UTSW |
19 |
4,200,220 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8684:Coro1b
|
UTSW |
19 |
4,199,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Coro1b
|
UTSW |
19 |
4,200,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9086:Coro1b
|
UTSW |
19 |
4,202,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9180:Coro1b
|
UTSW |
19 |
4,203,392 (GRCm39) |
missense |
probably benign |
|
|
R9416:Coro1b
|
UTSW |
19 |
4,201,473 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9593:Coro1b
|
UTSW |
19 |
4,199,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation