Incidental Mutation 'R4085:Coro1b'
ID |
317114 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Coro1b
|
Ensembl Gene |
ENSMUSG00000024835 |
Gene Name |
coronin, actin binding protein 1B |
Synonyms |
coronin 2 |
MMRRC Submission |
040979-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4085 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
4198618-4204034 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4203618 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 451
(V451A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000008893
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008893]
[ENSMUST00000025749]
[ENSMUST00000061086]
[ENSMUST00000118483]
[ENSMUST00000123874]
[ENSMUST00000127605]
[ENSMUST00000130469]
[ENSMUST00000137431]
|
AlphaFold |
Q9WUM3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000008893
AA Change: V451A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000008893 Gene: ENSMUSG00000024835 AA Change: V451A
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: ENSMUST00000025749
|
SMART Domains |
Protein: ENSMUSP00000025749 Gene: ENSMUSG00000024830
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
S_TKc
|
67 |
328 |
2.56e-103 |
SMART |
S_TK_X
|
329 |
391 |
2.6e-26 |
SMART |
low complexity region
|
406 |
421 |
N/A |
INTRINSIC |
low complexity region
|
428 |
485 |
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: ENSMUST00000118483
|
SMART Domains |
Protein: ENSMUSP00000112512 Gene: ENSMUSG00000024830
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
S_TKc
|
67 |
328 |
2.56e-103 |
SMART |
S_TK_X
|
329 |
384 |
1.69e-16 |
SMART |
|
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 |
probably benign
Transcript: ENSMUST00000127605
|
SMART Domains |
Protein: ENSMUSP00000123376 Gene: ENSMUSG00000024830
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
S_TKc
|
67 |
304 |
1.6e-72 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130469
|
SMART Domains |
Protein: ENSMUSP00000117446 Gene: ENSMUSG00000024830
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
67 |
153 |
2.7e-14 |
PFAM |
Pfam:Pkinase_Tyr
|
67 |
153 |
9.8e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143613
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148733
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141104
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135498
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142878
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140419
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135911
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148189
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134194
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154307
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137431
|
SMART Domains |
Protein: ENSMUSP00000116744 Gene: ENSMUSG00000024830
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
67 |
277 |
4.6e-31 |
PFAM |
Pfam:Pkinase
|
67 |
278 |
2.2e-62 |
PFAM |
|
Meta Mutation Damage Score |
0.1294 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (59/60) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Abca15 |
T |
C |
7: 119,981,949 (GRCm39) |
V1088A |
probably damaging |
Het |
Adgrl3 |
A |
G |
5: 81,660,391 (GRCm39) |
I319V |
probably benign |
Het |
Atraid |
A |
T |
5: 31,209,650 (GRCm39) |
|
probably benign |
Het |
Aurkaip1 |
A |
T |
4: 155,917,362 (GRCm39) |
K172N |
probably benign |
Het |
Bicd2 |
T |
A |
13: 49,538,438 (GRCm39) |
|
probably null |
Het |
Ccr1 |
C |
T |
9: 123,763,987 (GRCm39) |
R181H |
probably benign |
Het |
Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
Cldn34c4 |
A |
T |
X: 126,629,011 (GRCm39) |
V153E |
probably damaging |
Het |
Col4a4 |
C |
A |
1: 82,448,909 (GRCm39) |
|
probably null |
Het |
Dcc |
T |
A |
18: 71,959,240 (GRCm39) |
Q177H |
probably benign |
Het |
Ddx4 |
A |
G |
13: 112,750,295 (GRCm39) |
V386A |
probably benign |
Het |
Dynlrb1 |
G |
T |
2: 155,091,896 (GRCm39) |
|
probably benign |
Het |
Ehbp1 |
A |
T |
11: 22,045,898 (GRCm39) |
L592Q |
possibly damaging |
Het |
Fam20b |
T |
C |
1: 156,533,445 (GRCm39) |
D57G |
probably benign |
Het |
Fbxo33 |
A |
G |
12: 59,247,591 (GRCm39) |
|
probably benign |
Het |
Fndc4 |
A |
G |
5: 31,451,121 (GRCm39) |
I190T |
probably damaging |
Het |
Gad1 |
G |
T |
2: 70,420,192 (GRCm39) |
A359S |
probably benign |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm43517 |
A |
G |
12: 49,437,897 (GRCm39) |
|
probably benign |
Het |
Hectd1 |
A |
T |
12: 51,821,533 (GRCm39) |
V1052D |
possibly damaging |
Het |
Herc6 |
G |
A |
6: 57,624,054 (GRCm39) |
C608Y |
probably benign |
Het |
Itpr2 |
T |
A |
6: 146,045,746 (GRCm39) |
D2573V |
probably damaging |
Het |
Kank2 |
A |
G |
9: 21,706,415 (GRCm39) |
L201P |
probably damaging |
Het |
Kdm1a |
A |
C |
4: 136,279,273 (GRCm39) |
Y762* |
probably null |
Het |
Mef2c |
C |
T |
13: 83,723,821 (GRCm39) |
T9M |
probably damaging |
Het |
Ndst4 |
A |
G |
3: 125,403,131 (GRCm39) |
I413V |
probably benign |
Het |
Nlrp1b |
T |
C |
11: 71,052,588 (GRCm39) |
T947A |
probably damaging |
Het |
Nlrp5 |
C |
A |
7: 23,129,523 (GRCm39) |
N863K |
probably damaging |
Het |
Opn1sw |
A |
G |
6: 29,380,143 (GRCm39) |
I91T |
possibly damaging |
Het |
Or2y13 |
T |
C |
11: 49,414,955 (GRCm39) |
I135T |
probably benign |
Het |
Pmfbp1 |
A |
G |
8: 110,221,579 (GRCm39) |
K15E |
possibly damaging |
Het |
Ppp3cb |
A |
G |
14: 20,558,611 (GRCm39) |
C484R |
possibly damaging |
Het |
Rassf2 |
C |
A |
2: 131,846,299 (GRCm39) |
G153C |
probably damaging |
Het |
Rbm15b |
T |
C |
9: 106,762,936 (GRCm39) |
N411D |
possibly damaging |
Het |
Rbm47 |
A |
G |
5: 66,180,080 (GRCm39) |
M409T |
probably benign |
Het |
Sall1 |
C |
T |
8: 89,755,137 (GRCm39) |
V1281M |
probably benign |
Het |
Sall3 |
A |
T |
18: 81,015,348 (GRCm39) |
M860K |
probably damaging |
Het |
Sik2 |
A |
T |
9: 50,846,685 (GRCm39) |
|
probably benign |
Het |
Sim2 |
A |
G |
16: 93,910,213 (GRCm39) |
Y205C |
possibly damaging |
Het |
Styxl1 |
G |
A |
5: 135,788,019 (GRCm39) |
T92I |
unknown |
Het |
Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
Taok2 |
T |
C |
7: 126,473,897 (GRCm39) |
E403G |
possibly damaging |
Het |
Tedc2 |
A |
T |
17: 24,438,813 (GRCm39) |
V168E |
probably benign |
Het |
Tle6 |
A |
G |
10: 81,430,349 (GRCm39) |
|
probably null |
Het |
Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
Trim14 |
T |
A |
4: 46,523,709 (GRCm39) |
T110S |
probably benign |
Het |
Ucp1 |
T |
C |
8: 84,020,580 (GRCm39) |
I130T |
probably benign |
Het |
Urb2 |
A |
G |
8: 124,757,680 (GRCm39) |
H1129R |
probably benign |
Het |
Vmn2r111 |
C |
T |
17: 22,778,096 (GRCm39) |
G528R |
probably benign |
Het |
Wbp2nl |
A |
G |
15: 82,192,762 (GRCm39) |
M149V |
probably benign |
Het |
Xdh |
A |
T |
17: 74,223,874 (GRCm39) |
M506K |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTACTGCAGTTACTGATGTC -3'
(R):5'- AGGTGCAAACTGGCTGTGAC -3'
Sequencing Primer
(F):5'- CAGTTACTGATGTCCCCAGTGG -3'
(R):5'- AACTGCCTGGTGTGACCTG -3'
|
Posted On |
2015-05-15 |