Incidental Mutation 'IGL00885:Coro7'
ID |
29120 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Coro7
|
Ensembl Gene |
ENSMUSG00000039637 |
Gene Name |
coronin 7 |
Synonyms |
0610011B16Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
IGL00885
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
4444748-4497584 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 4452890 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 286
(Y286F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048489
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038552]
[ENSMUST00000038770]
[ENSMUST00000135823]
|
AlphaFold |
Q9D2V7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038552
AA Change: Y286F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000048489 Gene: ENSMUSG00000039637 AA Change: Y286F
Domain | Start | End | E-Value | Type |
DUF1899
|
3 |
64 |
6.41e-15 |
SMART |
WD40
|
66 |
106 |
1.83e-7 |
SMART |
WD40
|
115 |
154 |
4.13e0 |
SMART |
WD40
|
157 |
196 |
1.78e-5 |
SMART |
DUF1900
|
251 |
385 |
4.49e-60 |
SMART |
low complexity region
|
427 |
456 |
N/A |
INTRINSIC |
DUF1899
|
463 |
528 |
1.2e-19 |
SMART |
WD40
|
531 |
570 |
3.64e-2 |
SMART |
WD40
|
580 |
620 |
8.55e-8 |
SMART |
WD40
|
623 |
662 |
1.16e-9 |
SMART |
low complexity region
|
667 |
679 |
N/A |
INTRINSIC |
DUF1900
|
718 |
854 |
6.69e-68 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000038770
|
SMART Domains |
Protein: ENSMUSP00000045162 Gene: ENSMUSG00000039646
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
LRRNT
|
24 |
57 |
4.05e-5 |
SMART |
LRR_TYP
|
76 |
99 |
8.15e-6 |
SMART |
LRR_TYP
|
100 |
123 |
6.23e-2 |
SMART |
LRR_TYP
|
124 |
147 |
6.42e-4 |
SMART |
LRR
|
169 |
192 |
1.99e0 |
SMART |
low complexity region
|
197 |
206 |
N/A |
INTRINSIC |
LRR
|
216 |
238 |
6.22e0 |
SMART |
LRR
|
239 |
263 |
1.16e2 |
SMART |
LRR
|
264 |
287 |
1.15e1 |
SMART |
LRRCT
|
299 |
351 |
2.03e-11 |
SMART |
EGF
|
409 |
443 |
2.79e-4 |
SMART |
FN3
|
460 |
544 |
2.72e-3 |
SMART |
transmembrane domain
|
578 |
600 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127125
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130125
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135823
|
SMART Domains |
Protein: ENSMUSP00000118310 Gene: ENSMUSG00000039637
Domain | Start | End | E-Value | Type |
DUF1899
|
3 |
64 |
6.41e-15 |
SMART |
WD40
|
66 |
106 |
1.83e-7 |
SMART |
WD40
|
115 |
154 |
4.13e0 |
SMART |
WD40
|
157 |
196 |
1.78e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138044
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139072
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144815
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151156
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143723
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal but exhibit disruption of the Golgi apparatus. Mutant fibroblasts show increased cell spreading and cellular F-actin content, increased cell polarization and migration, and enhanced wound healing in a scratch-wound assay. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf2 |
A |
T |
17: 43,025,206 (GRCm39) |
|
probably benign |
Het |
Adora2a |
T |
G |
10: 75,169,285 (GRCm39) |
F250V |
probably damaging |
Het |
Atp8b5 |
T |
C |
4: 43,355,567 (GRCm39) |
S516P |
probably damaging |
Het |
Btbd16 |
A |
G |
7: 130,390,552 (GRCm39) |
I150V |
probably damaging |
Het |
Capn13 |
A |
T |
17: 73,646,420 (GRCm39) |
I331N |
possibly damaging |
Het |
Capzb |
A |
G |
4: 139,014,361 (GRCm39) |
S233G |
probably benign |
Het |
Clasp2 |
A |
G |
9: 113,740,484 (GRCm39) |
R1171G |
probably damaging |
Het |
Col16a1 |
T |
G |
4: 129,990,703 (GRCm39) |
I1419S |
probably damaging |
Het |
Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
Cyp11b2 |
T |
C |
15: 74,725,364 (GRCm39) |
T252A |
probably benign |
Het |
Daam1 |
T |
A |
12: 71,990,865 (GRCm39) |
C160S |
unknown |
Het |
Ephx4 |
T |
C |
5: 107,553,991 (GRCm39) |
|
probably benign |
Het |
Fbxo47 |
A |
T |
11: 97,768,946 (GRCm39) |
D63E |
probably benign |
Het |
Fgf3 |
A |
T |
7: 144,394,521 (GRCm39) |
|
probably benign |
Het |
Fstl4 |
C |
T |
11: 53,039,809 (GRCm39) |
T331I |
possibly damaging |
Het |
Gpr158 |
T |
C |
2: 21,653,832 (GRCm39) |
F467S |
probably damaging |
Het |
Igfbpl1 |
C |
T |
4: 45,826,478 (GRCm39) |
V106I |
probably damaging |
Het |
Ikzf2 |
T |
C |
1: 69,578,481 (GRCm39) |
T271A |
possibly damaging |
Het |
Kat14 |
T |
A |
2: 144,236,175 (GRCm39) |
N302K |
probably benign |
Het |
Kmt2c |
G |
T |
5: 25,614,169 (GRCm39) |
Q184K |
possibly damaging |
Het |
Moxd2 |
A |
G |
6: 40,861,113 (GRCm39) |
|
probably benign |
Het |
Nbeal2 |
C |
A |
9: 110,467,729 (GRCm39) |
E479D |
probably damaging |
Het |
Neo1 |
A |
G |
9: 58,795,746 (GRCm39) |
L1231P |
probably damaging |
Het |
Nfatc3 |
C |
T |
8: 106,825,809 (GRCm39) |
P620L |
probably damaging |
Het |
Nol9 |
T |
C |
4: 152,126,057 (GRCm39) |
F253L |
probably damaging |
Het |
Nutm2 |
T |
A |
13: 50,628,896 (GRCm39) |
S653R |
probably benign |
Het |
Or2n1e |
A |
C |
17: 38,585,790 (GRCm39) |
I43L |
probably benign |
Het |
Or9i16 |
A |
T |
19: 13,865,532 (GRCm39) |
M14K |
probably benign |
Het |
Plcg1 |
A |
G |
2: 160,600,003 (GRCm39) |
D921G |
probably benign |
Het |
Plpp4 |
A |
T |
7: 128,923,257 (GRCm39) |
I101F |
probably damaging |
Het |
Psg17 |
A |
T |
7: 18,554,091 (GRCm39) |
L53Q |
probably damaging |
Het |
Ptpn4 |
A |
T |
1: 119,730,093 (GRCm39) |
I20N |
possibly damaging |
Het |
R3hdm1 |
A |
T |
1: 128,164,175 (GRCm39) |
I1030L |
probably damaging |
Het |
Rpl7 |
A |
C |
1: 16,172,807 (GRCm39) |
S171A |
possibly damaging |
Het |
Snx25 |
G |
A |
8: 46,491,513 (GRCm39) |
T859M |
probably damaging |
Het |
Spata31e5 |
T |
C |
1: 28,815,926 (GRCm39) |
E702G |
unknown |
Het |
Tmem94 |
A |
G |
11: 115,686,154 (GRCm39) |
M990V |
probably damaging |
Het |
Tnnt2 |
A |
G |
1: 135,774,502 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,540,029 (GRCm39) |
H34319R |
possibly damaging |
Het |
Vmn1r72 |
A |
G |
7: 11,404,424 (GRCm39) |
V8A |
probably benign |
Het |
Zbtb41 |
A |
G |
1: 139,358,062 (GRCm39) |
T457A |
probably benign |
Het |
|
Other mutations in Coro7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00428:Coro7
|
APN |
16 |
4,452,500 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02944:Coro7
|
APN |
16 |
4,453,276 (GRCm39) |
missense |
probably benign |
0.14 |
IGL03104:Coro7
|
APN |
16 |
4,446,990 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03153:Coro7
|
APN |
16 |
4,453,246 (GRCm39) |
critical splice donor site |
probably null |
|
R0022:Coro7
|
UTSW |
16 |
4,451,168 (GRCm39) |
missense |
probably benign |
0.01 |
R0022:Coro7
|
UTSW |
16 |
4,451,168 (GRCm39) |
missense |
probably benign |
0.01 |
R0071:Coro7
|
UTSW |
16 |
4,488,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R0071:Coro7
|
UTSW |
16 |
4,488,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R0080:Coro7
|
UTSW |
16 |
4,448,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R0193:Coro7
|
UTSW |
16 |
4,445,368 (GRCm39) |
unclassified |
probably benign |
|
R0242:Coro7
|
UTSW |
16 |
4,448,042 (GRCm39) |
splice site |
probably benign |
|
R0318:Coro7
|
UTSW |
16 |
4,493,671 (GRCm39) |
missense |
probably benign |
0.09 |
R0554:Coro7
|
UTSW |
16 |
4,450,121 (GRCm39) |
missense |
possibly damaging |
0.63 |
R0666:Coro7
|
UTSW |
16 |
4,449,775 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0835:Coro7
|
UTSW |
16 |
4,450,118 (GRCm39) |
missense |
probably benign |
0.12 |
R0968:Coro7
|
UTSW |
16 |
4,487,919 (GRCm39) |
splice site |
probably benign |
|
R1670:Coro7
|
UTSW |
16 |
4,446,097 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1709:Coro7
|
UTSW |
16 |
4,452,305 (GRCm39) |
splice site |
probably null |
|
R1848:Coro7
|
UTSW |
16 |
4,448,298 (GRCm39) |
missense |
probably damaging |
0.99 |
R1884:Coro7
|
UTSW |
16 |
4,446,683 (GRCm39) |
unclassified |
probably benign |
|
R1935:Coro7
|
UTSW |
16 |
4,446,596 (GRCm39) |
missense |
probably benign |
|
R1937:Coro7
|
UTSW |
16 |
4,446,596 (GRCm39) |
missense |
probably benign |
|
R1939:Coro7
|
UTSW |
16 |
4,446,596 (GRCm39) |
missense |
probably benign |
|
R1967:Coro7
|
UTSW |
16 |
4,452,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R1969:Coro7
|
UTSW |
16 |
4,451,620 (GRCm39) |
missense |
probably benign |
0.19 |
R1970:Coro7
|
UTSW |
16 |
4,451,620 (GRCm39) |
missense |
probably benign |
0.19 |
R3034:Coro7
|
UTSW |
16 |
4,450,155 (GRCm39) |
missense |
probably damaging |
0.99 |
R4638:Coro7
|
UTSW |
16 |
4,450,151 (GRCm39) |
missense |
probably damaging |
0.96 |
R4710:Coro7
|
UTSW |
16 |
4,452,797 (GRCm39) |
intron |
probably benign |
|
R4723:Coro7
|
UTSW |
16 |
4,449,858 (GRCm39) |
missense |
probably benign |
0.00 |
R4789:Coro7
|
UTSW |
16 |
4,446,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R5493:Coro7
|
UTSW |
16 |
4,450,351 (GRCm39) |
missense |
probably damaging |
0.99 |
R5619:Coro7
|
UTSW |
16 |
4,494,799 (GRCm39) |
critical splice donor site |
probably null |
|
R5756:Coro7
|
UTSW |
16 |
4,450,148 (GRCm39) |
missense |
probably damaging |
0.97 |
R5974:Coro7
|
UTSW |
16 |
4,449,753 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6010:Coro7
|
UTSW |
16 |
4,487,820 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6038:Coro7
|
UTSW |
16 |
4,497,414 (GRCm39) |
critical splice donor site |
probably null |
|
R6038:Coro7
|
UTSW |
16 |
4,497,414 (GRCm39) |
critical splice donor site |
probably null |
|
R6906:Coro7
|
UTSW |
16 |
4,451,168 (GRCm39) |
missense |
probably benign |
0.00 |
R6925:Coro7
|
UTSW |
16 |
4,446,538 (GRCm39) |
critical splice donor site |
probably null |
|
R7069:Coro7
|
UTSW |
16 |
4,497,475 (GRCm39) |
start codon destroyed |
probably damaging |
0.99 |
R7326:Coro7
|
UTSW |
16 |
4,449,912 (GRCm39) |
missense |
probably damaging |
0.96 |
R7421:Coro7
|
UTSW |
16 |
4,486,615 (GRCm39) |
missense |
probably benign |
0.19 |
R7521:Coro7
|
UTSW |
16 |
4,449,346 (GRCm39) |
missense |
probably benign |
0.00 |
R7773:Coro7
|
UTSW |
16 |
4,449,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R7846:Coro7
|
UTSW |
16 |
4,488,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R8240:Coro7
|
UTSW |
16 |
4,486,660 (GRCm39) |
missense |
probably damaging |
0.96 |
R8726:Coro7
|
UTSW |
16 |
4,486,619 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8762:Coro7
|
UTSW |
16 |
4,452,203 (GRCm39) |
missense |
probably benign |
|
R9383:Coro7
|
UTSW |
16 |
4,452,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R9451:Coro7
|
UTSW |
16 |
4,488,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R9553:Coro7
|
UTSW |
16 |
4,486,624 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Posted On |
2013-04-17 |