Incidental Mutation 'R4692:Coro1b'
| ID |
355002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coro1b
|
| Ensembl Gene |
ENSMUSG00000024835 |
| Gene Name |
coronin, actin binding protein 1B |
| Synonyms |
coronin 2 |
| MMRRC Submission |
041943-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4692 (G1)
|
| Quality Score |
215 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
4198618-4204034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4199418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 26
(Y26H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008893]
[ENSMUST00000096338]
[ENSMUST00000123874]
|
| AlphaFold |
Q9WUM3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008893
AA Change: Y26H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000008893
Gene: ENSMUSG00000024835
AA Change: Y26H
| 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: 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 damaging
Transcript: ENSMUST00000123874
AA Change: Y26H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118450
Gene: ENSMUSG00000024835
AA Change: Y26H
| 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: ENSMUST00000142878
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143613
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148733
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148189
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
T |
10: 28,849,882 (GRCm39) |
Y230* |
probably null |
Het |
| 9230104M06Rik |
A |
T |
12: 112,963,692 (GRCm39) |
|
probably benign |
Het |
| Arhgap20 |
A |
G |
9: 51,697,088 (GRCm39) |
D53G |
probably damaging |
Het |
| Arl2 |
T |
C |
19: 6,187,776 (GRCm39) |
T54A |
probably damaging |
Het |
| Baz2a |
G |
A |
10: 127,960,762 (GRCm39) |
G1521S |
probably damaging |
Het |
| Begain |
A |
G |
12: 108,999,818 (GRCm39) |
S523P |
probably damaging |
Het |
| Car10 |
T |
C |
11: 93,075,984 (GRCm39) |
|
probably null |
Het |
| Cenpe |
A |
G |
3: 134,922,140 (GRCm39) |
I66V |
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,286,864 (GRCm39) |
V895E |
unknown |
Het |
| Crebbp |
T |
C |
16: 3,932,727 (GRCm39) |
E1017G |
possibly damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,428,709 (GRCm39) |
S232P |
probably damaging |
Het |
| Cyp7b1 |
T |
A |
3: 18,126,728 (GRCm39) |
I473F |
probably damaging |
Het |
| Efcab5 |
A |
T |
11: 77,004,507 (GRCm39) |
I937N |
probably damaging |
Het |
| Fam53c |
A |
C |
18: 34,901,743 (GRCm39) |
E220A |
probably damaging |
Het |
| Gsn |
A |
G |
2: 35,188,883 (GRCm39) |
Y434C |
probably damaging |
Het |
| Igkv2-137 |
T |
C |
6: 67,532,971 (GRCm39) |
S45P |
possibly damaging |
Het |
| Katnip |
T |
C |
7: 125,466,841 (GRCm39) |
|
probably null |
Het |
| Kif13b |
C |
A |
14: 65,041,024 (GRCm39) |
T1704K |
probably benign |
Het |
| Mapk7 |
A |
G |
11: 61,380,068 (GRCm39) |
S697P |
possibly damaging |
Het |
| Mrgpra1 |
T |
A |
7: 46,985,446 (GRCm39) |
I78F |
probably damaging |
Het |
| N6amt1 |
T |
C |
16: 87,153,854 (GRCm39) |
V97A |
possibly damaging |
Het |
| Oas3 |
T |
C |
5: 120,907,420 (GRCm39) |
T406A |
probably benign |
Het |
| Or4f61 |
A |
G |
2: 111,923,026 (GRCm39) |
S7P |
probably damaging |
Het |
| Or8c17 |
C |
T |
9: 38,179,826 (GRCm39) |
Q6* |
probably null |
Het |
| Paxip1 |
T |
C |
5: 27,977,095 (GRCm39) |
|
probably benign |
Het |
| Pfn4 |
A |
T |
12: 4,824,486 (GRCm39) |
Y71F |
probably damaging |
Het |
| Plin4 |
C |
A |
17: 56,410,762 (GRCm39) |
G1090C |
probably damaging |
Het |
| Ptk2b |
C |
T |
14: 66,394,518 (GRCm39) |
G859S |
probably benign |
Het |
| Rbl2 |
T |
A |
8: 91,849,047 (GRCm39) |
D1084E |
probably damaging |
Het |
| Robo1 |
T |
G |
16: 72,757,090 (GRCm39) |
S350R |
probably damaging |
Het |
| Sbno2 |
A |
G |
10: 79,922,161 (GRCm39) |
V4A |
possibly damaging |
Het |
| Sh3rf1 |
T |
C |
8: 61,806,888 (GRCm39) |
|
probably null |
Het |
| Smgc |
T |
C |
15: 91,738,764 (GRCm39) |
V474A |
possibly damaging |
Het |
| Snx13 |
A |
G |
12: 35,136,917 (GRCm39) |
D126G |
possibly damaging |
Het |
| Sox9 |
C |
A |
11: 112,673,803 (GRCm39) |
H131Q |
probably benign |
Het |
| Spag6 |
T |
C |
2: 18,704,054 (GRCm39) |
I34T |
probably benign |
Het |
| Speer2 |
T |
A |
16: 69,654,860 (GRCm39) |
T202S |
possibly damaging |
Het |
| Sspo |
T |
A |
6: 48,459,621 (GRCm39) |
C3327S |
probably damaging |
Het |
| Vcpip1 |
G |
T |
1: 9,818,299 (GRCm39) |
A28E |
unknown |
Het |
| Vstm5 |
A |
T |
9: 15,168,718 (GRCm39) |
D94V |
probably damaging |
Het |
| Zfp329 |
T |
C |
7: 12,544,559 (GRCm39) |
K322E |
probably damaging |
Het |
| Zfp932 |
G |
A |
5: 110,157,052 (GRCm39) |
G250D |
probably damaging |
Het |
| Zscan26 |
A |
G |
13: 21,629,427 (GRCm39) |
C359R |
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 |
|
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 |
|
R4528:Coro1b
|
UTSW |
19 |
4,199,980 (GRCm39) |
missense |
probably benign |
0.23 |
|
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'- AGAGAGTGTTGGTCTGCACC -3'
(R):5'- TGTGACCAGAGTGTCCTCAG -3'
Sequencing Primer
(F):5'- ATGAGCCCTTTCTATAACTGGG -3'
(R):5'- TGACCAGAGTGTCCTCAGATGTC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation