Incidental Mutation 'R4528:Coro1b'
| ID |
333014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coro1b
|
| Ensembl Gene |
ENSMUSG00000024835 |
| Gene Name |
coronin, actin binding protein 1B |
| Synonyms |
coronin 2 |
| MMRRC Submission |
041769-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4528 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
4198618-4204034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4199980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 107
(V107A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008893
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008893]
[ENSMUST00000061086]
[ENSMUST00000096338]
[ENSMUST00000123874]
|
| AlphaFold |
Q9WUM3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008893
AA Change: V107A
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000008893
Gene: ENSMUSG00000024835
AA Change: V107A
| 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
AA Change: V107A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000118450
Gene: ENSMUSG00000024835
AA Change: V107A
| 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: ENSMUST00000143613
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148733
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148189
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142878
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atm |
A |
T |
9: 53,412,059 (GRCm39) |
I999K |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,656,515 (GRCm39) |
E535G |
possibly damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cenpu |
G |
T |
8: 47,015,457 (GRCm39) |
G34* |
probably null |
Het |
| Col7a1 |
C |
A |
9: 108,788,601 (GRCm39) |
A739D |
unknown |
Het |
| Cpeb3 |
T |
C |
19: 37,116,488 (GRCm39) |
D381G |
possibly damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,634,194 (GRCm39) |
D320G |
possibly damaging |
Het |
| Dcaf1 |
A |
T |
9: 106,721,403 (GRCm39) |
K398N |
probably damaging |
Het |
| Etfa |
A |
G |
9: 55,407,334 (GRCm39) |
S52P |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 38,945,443 (GRCm39) |
H1445Q |
probably benign |
Het |
| Foxred2 |
T |
A |
15: 77,827,449 (GRCm39) |
M637L |
probably benign |
Het |
| Gbe1 |
A |
T |
16: 70,275,225 (GRCm39) |
I342L |
probably benign |
Het |
| Gm14410 |
A |
T |
2: 176,885,736 (GRCm39) |
I176K |
probably benign |
Het |
| Gm14410 |
G |
T |
2: 176,885,734 (GRCm39) |
H177N |
probably damaging |
Het |
| Gm1527 |
T |
A |
3: 28,968,542 (GRCm39) |
M198K |
probably damaging |
Het |
| Hr |
T |
C |
14: 70,803,823 (GRCm39) |
L838P |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,678,556 (GRCm39) |
S212P |
possibly damaging |
Het |
| Lims1 |
T |
C |
10: 58,245,882 (GRCm39) |
C180R |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,297,088 (GRCm39) |
S2649T |
probably damaging |
Het |
| Or10x1 |
T |
A |
1: 174,196,822 (GRCm39) |
L113H |
probably damaging |
Het |
| Or4f57 |
T |
C |
2: 111,791,293 (GRCm39) |
N42D |
probably damaging |
Het |
| Or51t4 |
A |
G |
7: 102,598,013 (GRCm39) |
M104V |
probably damaging |
Het |
| Pde4dip |
C |
T |
3: 97,624,338 (GRCm39) |
E1399K |
probably damaging |
Het |
| Pex1 |
T |
C |
5: 3,681,712 (GRCm39) |
Y1053H |
probably damaging |
Het |
| Plscr2 |
G |
A |
9: 92,171,746 (GRCm39) |
E113K |
possibly damaging |
Het |
| Pus1 |
T |
C |
5: 110,922,596 (GRCm39) |
Y309C |
probably damaging |
Het |
| Scube3 |
T |
A |
17: 28,381,973 (GRCm39) |
V333D |
possibly damaging |
Het |
| Serpina11 |
A |
T |
12: 103,952,592 (GRCm39) |
N66K |
probably benign |
Het |
| Thtpa |
T |
A |
14: 55,333,039 (GRCm39) |
D41E |
probably damaging |
Het |
| Timm10b |
A |
G |
7: 105,332,013 (GRCm39) |
N828S |
probably benign |
Het |
| Tlr12 |
A |
C |
4: 128,511,818 (GRCm39) |
L144R |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,861,102 (GRCm39) |
E964G |
possibly damaging |
Het |
| Ugt1a6b |
T |
A |
1: 88,035,301 (GRCm39) |
I213N |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Zbtb43 |
A |
G |
2: 33,352,337 (GRCm39) |
|
probably benign |
Het |
| Zfp985 |
A |
T |
4: 147,667,347 (GRCm39) |
I72F |
possibly damaging |
Het |
| Zfpm1 |
G |
A |
8: 123,062,381 (GRCm39) |
R480H |
probably benign |
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 |
|
IGL03411:Coro1b
|
APN |
19 |
4,200,225 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGGGCCCATAGATACTG -3'
(R):5'- TGCCAGGTGATAATGCCCAC -3'
Sequencing Primer
(F):5'- CCCATAGATACTGGGAGGAATG -3'
(R):5'- TGATAATGCCCACGCGCTTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation