Incidental Mutation 'R0318:Coro7'
| ID |
25552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coro7
|
| Ensembl Gene |
ENSMUSG00000039637 |
| Gene Name |
coronin 7 |
| Synonyms |
0610011B16Rik |
| MMRRC Submission |
038528-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R0318 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4444748-4497584 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4493671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 63
(H63L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038552]
[ENSMUST00000090480]
[ENSMUST00000135823]
|
| AlphaFold |
Q9D2V7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038552
AA Change: H63L
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000048489
Gene: ENSMUSG00000039637
AA Change: H63L
| 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: ENSMUST00000090480
AA Change: H63L
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000087966
Gene: ENSMUSG00000039637
AA Change: H63L
| 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: ENSMUST00000123031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127850
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135823
AA Change: H63L
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000118310
Gene: ENSMUSG00000039637
AA Change: H63L
| 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: ENSMUST00000144815
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.4%
- 20x: 86.5%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
T |
15: 57,892,370 (GRCm39) |
L79Q |
probably damaging |
Het |
| Add1 |
T |
C |
5: 34,782,684 (GRCm39) |
V130A |
probably damaging |
Het |
| Ankrd23 |
G |
T |
1: 36,573,153 (GRCm39) |
T73K |
probably benign |
Het |
| Blk |
A |
G |
14: 63,611,646 (GRCm39) |
Y430H |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,531,709 (GRCm39) |
V272M |
probably damaging |
Het |
| Cerk |
C |
T |
15: 86,035,766 (GRCm39) |
A254T |
possibly damaging |
Het |
| Ces2a |
G |
A |
8: 105,467,456 (GRCm39) |
A494T |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,234,482 (GRCm39) |
Y258C |
probably damaging |
Het |
| Chaf1a |
C |
T |
17: 56,369,227 (GRCm39) |
T486I |
possibly damaging |
Het |
| Colec12 |
A |
G |
18: 9,848,446 (GRCm39) |
N208S |
possibly damaging |
Het |
| Cps1 |
T |
A |
1: 67,216,173 (GRCm39) |
W833R |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,522,549 (GRCm39) |
W2707R |
probably damaging |
Het |
| Dbn1 |
C |
T |
13: 55,622,729 (GRCm39) |
E585K |
probably damaging |
Het |
| Ddx50 |
A |
T |
10: 62,478,616 (GRCm39) |
I190K |
probably damaging |
Het |
| Dnmt3l |
G |
A |
10: 77,890,889 (GRCm39) |
V264M |
probably damaging |
Het |
| Dnpep |
A |
G |
1: 75,293,270 (GRCm39) |
V33A |
probably damaging |
Het |
| Fam163a |
A |
G |
1: 155,955,715 (GRCm39) |
C26R |
probably damaging |
Het |
| Fam83h |
A |
G |
15: 75,875,478 (GRCm39) |
S620P |
probably benign |
Het |
| Fcna |
A |
G |
2: 25,515,071 (GRCm39) |
S263P |
probably benign |
Het |
| Fnip2 |
A |
T |
3: 79,419,685 (GRCm39) |
S165R |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,410 (GRCm39) |
T244A |
probably benign |
Het |
| Gpr152 |
T |
C |
19: 4,193,541 (GRCm39) |
S361P |
possibly damaging |
Het |
| Grm5 |
A |
T |
7: 87,252,175 (GRCm39) |
I142L |
probably damaging |
Het |
| Gucy2g |
A |
G |
19: 55,226,230 (GRCm39) |
S229P |
probably benign |
Het |
| Htr7 |
C |
T |
19: 35,946,886 (GRCm39) |
G376D |
probably damaging |
Het |
| Irgc |
T |
C |
7: 24,131,896 (GRCm39) |
D307G |
probably benign |
Het |
| Irs1 |
A |
T |
1: 82,266,381 (GRCm39) |
S612T |
probably benign |
Het |
| Maml2 |
C |
T |
9: 13,531,890 (GRCm39) |
T368I |
probably damaging |
Het |
| Mapkapk2 |
A |
G |
1: 131,025,072 (GRCm39) |
V64A |
probably damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Nptx1 |
C |
T |
11: 119,433,367 (GRCm39) |
E411K |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5ak25 |
C |
A |
2: 85,268,581 (GRCm39) |
R307M |
possibly damaging |
Het |
| Pcgf5 |
A |
T |
19: 36,389,590 (GRCm39) |
K22N |
possibly damaging |
Het |
| Psmd9 |
C |
A |
5: 123,372,712 (GRCm39) |
A65E |
possibly damaging |
Het |
| Sh3bp1 |
A |
G |
15: 78,795,907 (GRCm39) |
T679A |
probably damaging |
Het |
| Sipa1l2 |
G |
A |
8: 126,174,436 (GRCm39) |
P1281S |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc25a24 |
A |
G |
3: 109,064,316 (GRCm39) |
M222V |
probably benign |
Het |
| Smg9 |
T |
C |
7: 24,120,313 (GRCm39) |
F429S |
possibly damaging |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Sorl1 |
T |
A |
9: 41,993,250 (GRCm39) |
Y258F |
probably damaging |
Het |
| Srp72 |
C |
T |
5: 77,132,047 (GRCm39) |
T242I |
probably benign |
Het |
| Stc1 |
A |
T |
14: 69,275,867 (GRCm39) |
Q220L |
probably damaging |
Het |
| Tas2r122 |
T |
C |
6: 132,688,795 (GRCm39) |
T33A |
possibly damaging |
Het |
| Tbc1d10b |
A |
G |
7: 126,798,206 (GRCm39) |
L645P |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,665,619 (GRCm39) |
F47S |
probably benign |
Het |
| Timd4 |
T |
A |
11: 46,727,898 (GRCm39) |
H272Q |
probably benign |
Het |
| Ttll5 |
T |
G |
12: 85,923,368 (GRCm39) |
|
probably null |
Het |
| Veph1 |
G |
T |
3: 65,964,680 (GRCm39) |
S783Y |
probably damaging |
Het |
| Vmn1r230 |
T |
C |
17: 21,067,078 (GRCm39) |
L89S |
possibly damaging |
Het |
| Xcr1 |
A |
G |
9: 123,685,219 (GRCm39) |
V165A |
possibly damaging |
Het |
| Zfp286 |
T |
C |
11: 62,675,788 (GRCm39) |
D58G |
probably damaging |
Het |
| Zfyve26 |
C |
T |
12: 79,323,055 (GRCm39) |
R897H |
probably 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCCGATGGACTGGAACATCTAC -3'
(R):5'- AGCTGATAGCCCAAAGCTGACCTC -3'
Sequencing Primer
(F):5'- TGCAGGCCAGAGTTCCAAAC -3'
(R):5'- CATTCAGTGCAGATGGTTCAAGC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation