Incidental Mutation 'R5650:Coro1b'
| ID |
441403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coro1b
|
| Ensembl Gene |
ENSMUSG00000024835 |
| Gene Name |
coronin, actin binding protein 1B |
| Synonyms |
coronin 2 |
| MMRRC Submission |
043296-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5650 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
4198618-4204034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4200610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 209
(T209I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008893
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008893]
[ENSMUST00000061086]
[ENSMUST00000096338]
[ENSMUST00000123874]
|
| AlphaFold |
Q9WUM3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000008893
AA Change: T209I
PolyPhen 2
Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000008893
Gene: ENSMUSG00000024835
AA Change: T209I
| 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: ENSMUST00000142878
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148733
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148189
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143613
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
T |
C |
6: 85,597,253 (GRCm39) |
L693P |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,614,136 (GRCm39) |
T2524A |
probably damaging |
Het |
| Cdr2 |
A |
G |
7: 120,557,559 (GRCm39) |
I322T |
probably damaging |
Het |
| Cep76 |
A |
T |
18: 67,758,136 (GRCm39) |
C385S |
probably damaging |
Het |
| Cercam |
C |
T |
2: 29,771,827 (GRCm39) |
S549F |
probably damaging |
Het |
| Dlec1 |
G |
T |
9: 118,972,662 (GRCm39) |
E1462* |
probably null |
Het |
| Dlgap5 |
C |
T |
14: 47,649,196 (GRCm39) |
G166D |
probably benign |
Het |
| Ep400 |
C |
T |
5: 110,843,818 (GRCm39) |
|
probably null |
Het |
| Fam3d |
A |
T |
14: 8,357,142 (GRCm38) |
V96E |
probably damaging |
Het |
| Fgr |
T |
G |
4: 132,727,533 (GRCm39) |
V478G |
probably benign |
Het |
| Fmo9 |
T |
A |
1: 166,491,015 (GRCm39) |
I437F |
probably damaging |
Het |
| Gabrd |
A |
T |
4: 155,473,081 (GRCm39) |
V64E |
probably damaging |
Het |
| Gsap |
A |
G |
5: 21,456,051 (GRCm39) |
Y385C |
probably damaging |
Het |
| H4c4 |
A |
T |
13: 23,765,778 (GRCm39) |
N65I |
possibly damaging |
Het |
| Hat1 |
T |
C |
2: 71,264,378 (GRCm39) |
V272A |
probably benign |
Het |
| Helz |
T |
A |
11: 107,485,972 (GRCm39) |
M127K |
probably null |
Het |
| Hsp90b1 |
G |
A |
10: 86,529,367 (GRCm39) |
A310V |
probably damaging |
Het |
| Hspa4 |
T |
C |
11: 53,155,919 (GRCm39) |
Y662C |
probably damaging |
Het |
| Kif7 |
C |
T |
7: 79,360,727 (GRCm39) |
R216H |
probably damaging |
Het |
| Klhl33 |
A |
G |
14: 51,129,285 (GRCm39) |
I648T |
probably benign |
Het |
| Knl1 |
T |
A |
2: 118,912,031 (GRCm39) |
L1716* |
probably null |
Het |
| Lgals9 |
T |
A |
11: 78,863,980 (GRCm39) |
N55I |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,136,110 (GRCm39) |
T606S |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,667,467 (GRCm39) |
|
probably null |
Het |
| Mip |
A |
T |
10: 128,061,934 (GRCm39) |
I62F |
possibly damaging |
Het |
| Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
| Npepl1 |
T |
C |
2: 173,963,329 (GRCm39) |
F454L |
possibly damaging |
Het |
| Or10h28 |
A |
T |
17: 33,487,858 (GRCm39) |
E53D |
probably benign |
Het |
| Or1j21 |
T |
A |
2: 36,683,277 (GRCm39) |
S10T |
probably benign |
Het |
| Or5ae1 |
T |
A |
7: 84,565,626 (GRCm39) |
I213N |
possibly damaging |
Het |
| Or8b1b |
A |
T |
9: 38,376,023 (GRCm39) |
K229* |
probably null |
Het |
| Oxct1 |
T |
A |
15: 4,172,332 (GRCm39) |
V466D |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,144,792 (GRCm39) |
I2768F |
probably damaging |
Het |
| Pitpnm1 |
C |
A |
19: 4,153,319 (GRCm39) |
D158E |
possibly damaging |
Het |
| Plekho2 |
T |
C |
9: 65,464,018 (GRCm39) |
N277S |
probably benign |
Het |
| Rab33b |
T |
C |
3: 51,400,837 (GRCm39) |
Y104H |
probably damaging |
Het |
| Rpap1 |
T |
C |
2: 119,604,331 (GRCm39) |
S473G |
probably benign |
Het |
| Serpina1b |
T |
A |
12: 103,694,694 (GRCm39) |
|
probably null |
Het |
| Slc25a17 |
A |
T |
15: 81,213,377 (GRCm39) |
|
probably null |
Het |
| Slc43a2 |
T |
C |
11: 75,436,633 (GRCm39) |
C160R |
probably damaging |
Het |
| Slc7a4 |
G |
T |
16: 17,393,548 (GRCm39) |
L84M |
possibly damaging |
Het |
| Slco1a4 |
T |
A |
6: 141,755,120 (GRCm39) |
I561F |
possibly damaging |
Het |
| Sowahc |
GGGAGGAGGAGGAGGAGGAGGAGGAGGA |
GGGAGGAGGAGGAGGAGGAGGAGGA |
10: 59,059,313 (GRCm39) |
|
probably benign |
Het |
| Specc1 |
T |
C |
11: 62,008,793 (GRCm39) |
I183T |
probably damaging |
Het |
| Sucla2 |
A |
G |
14: 73,828,569 (GRCm39) |
K362E |
probably benign |
Het |
| Tcf12 |
A |
T |
9: 71,792,584 (GRCm39) |
|
probably null |
Het |
| Tlr11 |
C |
T |
14: 50,598,658 (GRCm39) |
P215S |
probably benign |
Het |
| Tmem41b |
A |
G |
7: 109,574,072 (GRCm39) |
S198P |
probably damaging |
Het |
| Tubgcp3 |
A |
G |
8: 12,698,670 (GRCm39) |
F427S |
probably damaging |
Het |
| Wdr81 |
T |
A |
11: 75,335,574 (GRCm39) |
S1752C |
probably damaging |
Het |
| Zbtb7a |
A |
G |
10: 80,980,883 (GRCm39) |
Y359C |
probably damaging |
Het |
| Zfp37 |
T |
C |
4: 62,110,002 (GRCm39) |
Y354C |
probably damaging |
Het |
| Zmpste24 |
T |
A |
4: 120,940,074 (GRCm39) |
I191F |
possibly 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 |
|
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 |
|
|
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'- AGGTTGTGACAATGTGGTACTTATC -3'
(R):5'- TGCTACATCACTCACTGGGTC -3'
Sequencing Primer
(F):5'- ACTTATCTGGAATGTGGGCAC -3'
(R):5'- GTTCACTCATGCGGCTGAAAC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation