Incidental Mutation 'IGL03104:Coro7'
| ID |
418885 |
| 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 # |
IGL03104
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
4444748-4497584 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4446990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 793
(E793V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048489
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014445]
[ENSMUST00000038552]
[ENSMUST00000135823]
[ENSMUST00000156889]
|
| AlphaFold |
Q9D2V7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014445
|
| SMART Domains |
Protein: ENSMUSP00000014445
Gene: ENSMUSG00000014301
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pam16
|
1 |
125 |
4.9e-63 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038552
AA Change: E793V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048489
Gene: ENSMUSG00000039637
AA Change: E793V
| 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 |
noncoding transcript
Transcript: ENSMUST00000127120
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127125
|
| 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: ENSMUST00000139072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151156
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150028
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156889
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229767
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
C |
A |
1: 58,321,918 (GRCm39) |
T70K |
probably benign |
Het |
| Armt1 |
T |
A |
10: 4,389,615 (GRCm39) |
Y91N |
possibly damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,120,934 (GRCm39) |
L46S |
probably damaging |
Het |
| Baz1a |
A |
G |
12: 54,941,743 (GRCm39) |
S1488P |
probably damaging |
Het |
| Ctnnbl1 |
G |
T |
2: 157,732,885 (GRCm39) |
R555L |
probably damaging |
Het |
| Dclk2 |
A |
G |
3: 86,743,666 (GRCm39) |
C268R |
probably damaging |
Het |
| Dock7 |
A |
T |
4: 98,847,260 (GRCm39) |
M1684K |
possibly damaging |
Het |
| Dock8 |
T |
A |
19: 25,178,384 (GRCm39) |
C2092* |
probably null |
Het |
| Dtx1 |
T |
A |
5: 120,833,030 (GRCm39) |
Q136L |
possibly damaging |
Het |
| Egln3 |
C |
T |
12: 54,249,981 (GRCm39) |
|
probably benign |
Het |
| Eml5 |
A |
T |
12: 98,827,504 (GRCm39) |
Y575* |
probably null |
Het |
| Entpd5 |
A |
T |
12: 84,431,022 (GRCm39) |
V310E |
probably damaging |
Het |
| Fkbp5 |
A |
G |
17: 28,634,946 (GRCm39) |
F188L |
probably damaging |
Het |
| Frrs1 |
T |
C |
3: 116,675,431 (GRCm39) |
S120P |
probably benign |
Het |
| Gadl1 |
T |
C |
9: 115,903,108 (GRCm39) |
I479T |
possibly damaging |
Het |
| Gfra2 |
A |
T |
14: 71,205,725 (GRCm39) |
M106L |
probably benign |
Het |
| Gm17455 |
T |
A |
10: 60,239,060 (GRCm39) |
C108* |
probably null |
Het |
| Grhpr |
A |
G |
4: 44,983,867 (GRCm39) |
|
probably benign |
Het |
| Hsp90ab1 |
G |
A |
17: 45,882,449 (GRCm39) |
R82C |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,226,905 (GRCm39) |
Y2256C |
probably damaging |
Het |
| Ivd |
A |
T |
2: 118,703,384 (GRCm39) |
I160F |
probably benign |
Het |
| Krtap5-5 |
A |
G |
7: 141,783,450 (GRCm39) |
C67R |
unknown |
Het |
| Lhx4 |
A |
T |
1: 155,580,967 (GRCm39) |
V186E |
probably damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,631,958 (GRCm39) |
I1294T |
possibly damaging |
Het |
| Map3k5 |
C |
T |
10: 20,007,801 (GRCm39) |
S1202L |
probably benign |
Het |
| Mdfic |
T |
A |
6: 15,770,319 (GRCm39) |
N108K |
probably damaging |
Het |
| Mov10 |
G |
A |
3: 104,704,623 (GRCm39) |
R763W |
probably damaging |
Het |
| Mto1 |
T |
C |
9: 78,356,802 (GRCm39) |
S106P |
probably damaging |
Het |
| Naca |
C |
T |
10: 127,876,233 (GRCm39) |
|
probably benign |
Het |
| Or10j27 |
A |
G |
1: 172,958,526 (GRCm39) |
V86A |
probably benign |
Het |
| Or8s10 |
A |
G |
15: 98,336,127 (GRCm39) |
Y259C |
possibly damaging |
Het |
| Pan2 |
T |
C |
10: 128,151,532 (GRCm39) |
|
probably benign |
Het |
| Pold1 |
T |
C |
7: 44,190,004 (GRCm39) |
Y394C |
probably damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,388,904 (GRCm39) |
S377T |
probably benign |
Het |
| Sirpd |
G |
T |
3: 15,397,283 (GRCm39) |
|
probably benign |
Het |
| Slc36a3 |
A |
G |
11: 55,015,946 (GRCm39) |
S403P |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,297,231 (GRCm39) |
T480A |
probably damaging |
Het |
| Slu7 |
G |
A |
11: 43,332,883 (GRCm39) |
V315I |
probably benign |
Het |
| St6galnac3 |
T |
C |
3: 152,911,115 (GRCm39) |
E282G |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,509,685 (GRCm39) |
V855A |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,962,717 (GRCm39) |
D350G |
probably benign |
Het |
| Vmn1r53 |
T |
A |
6: 90,200,944 (GRCm39) |
K127* |
probably null |
Het |
| Vmn1r72 |
T |
G |
7: 11,403,812 (GRCm39) |
H212P |
probably damaging |
Het |
| Vmn2r86 |
T |
A |
10: 130,282,501 (GRCm39) |
Q705L |
probably damaging |
Het |
| Vps33b |
C |
T |
7: 79,925,831 (GRCm39) |
R93C |
probably damaging |
Het |
| Wdr91 |
T |
A |
6: 34,882,491 (GRCm39) |
E219D |
probably benign |
Het |
| Zan |
G |
A |
5: 137,461,762 (GRCm39) |
T1139I |
unknown |
Het |
| Zc3hav1 |
T |
A |
6: 38,317,278 (GRCm39) |
K107N |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,187,784 (GRCm39) |
E1150G |
possibly damaging |
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 |
|
IGL00885:Coro7
|
APN |
16 |
4,452,890 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02944:Coro7
|
APN |
16 |
4,453,276 (GRCm39) |
missense |
probably benign |
0.14 |
|
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 |
2016-08-02 |
Incidental Mutation