Incidental Mutation 'R0080:Coro7'
| ID |
19650 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coro7
|
| Ensembl Gene |
ENSMUSG00000039637 |
| Gene Name |
coronin 7 |
| Synonyms |
0610011B16Rik |
| MMRRC Submission |
038367-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R0080 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4444748-4497584 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4448328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 714
(L714Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048489
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038552]
[ENSMUST00000135823]
|
| AlphaFold |
Q9D2V7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038552
AA Change: L714Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048489
Gene: ENSMUSG00000039637
AA Change: L714Q
| 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: 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: ENSMUST00000139072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150028
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151156
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150724
|
| Meta Mutation Damage Score |
0.3806 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 93.1%
- 20x: 79.7%
|
| Validation Efficiency |
88% (175/200) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4732465J04Rik |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC |
10: 95,630,440 (GRCm39) |
|
probably null |
Het |
| Adam17 |
A |
C |
12: 21,379,049 (GRCm39) |
|
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,099,497 (GRCm39) |
|
probably benign |
Het |
| Adgb |
T |
C |
10: 10,253,583 (GRCm39) |
|
probably benign |
Het |
| Antkmt |
T |
C |
17: 26,010,548 (GRCm39) |
I89V |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,896,205 (GRCm39) |
D118G |
probably null |
Het |
| D2hgdh |
A |
G |
1: 93,754,177 (GRCm39) |
Y50C |
probably damaging |
Het |
| Dsg1b |
T |
G |
18: 20,530,424 (GRCm39) |
S360A |
probably damaging |
Het |
| Ednra |
T |
C |
8: 78,401,688 (GRCm39) |
I201V |
probably benign |
Het |
| Ggt6 |
A |
G |
11: 72,328,021 (GRCm39) |
T136A |
possibly damaging |
Het |
| Gnb5 |
A |
T |
9: 75,221,636 (GRCm39) |
E28V |
possibly damaging |
Het |
| Golgb1 |
T |
C |
16: 36,718,973 (GRCm39) |
L293P |
probably damaging |
Het |
| Gpr179 |
A |
G |
11: 97,242,295 (GRCm39) |
V183A |
probably benign |
Het |
| Grk6 |
T |
C |
13: 55,606,723 (GRCm39) |
S474P |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,487,435 (GRCm39) |
S3477G |
probably benign |
Het |
| Hoatz |
T |
C |
9: 51,013,102 (GRCm39) |
T57A |
probably benign |
Het |
| Irx3 |
T |
C |
8: 92,526,954 (GRCm39) |
D250G |
possibly damaging |
Het |
| Jsrp1 |
T |
G |
10: 80,646,349 (GRCm39) |
M70L |
probably benign |
Het |
| Kcmf1 |
G |
T |
6: 72,827,470 (GRCm39) |
|
probably null |
Het |
| Med23 |
T |
C |
10: 24,788,715 (GRCm39) |
V1368A |
probably benign |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nos1 |
G |
T |
5: 118,031,943 (GRCm39) |
C297F |
probably damaging |
Het |
| Oas1d |
G |
A |
5: 121,054,955 (GRCm39) |
A176T |
possibly damaging |
Het |
| Odf2l |
A |
T |
3: 144,830,084 (GRCm39) |
I19F |
possibly damaging |
Het |
| Or6c1b |
T |
C |
10: 129,273,140 (GRCm39) |
I153T |
possibly damaging |
Het |
| Or6c209 |
G |
A |
10: 129,483,522 (GRCm39) |
C175Y |
probably benign |
Het |
| Pfkfb2 |
A |
T |
1: 130,642,279 (GRCm39) |
S5R |
probably benign |
Het |
| Pign |
G |
T |
1: 105,480,130 (GRCm39) |
A848E |
probably damaging |
Het |
| Pomgnt2 |
A |
T |
9: 121,811,326 (GRCm39) |
V485E |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,583,361 (GRCm39) |
K4764N |
probably damaging |
Het |
| Scgb1b19 |
A |
G |
7: 32,987,067 (GRCm39) |
T73A |
probably damaging |
Het |
| Slc35d3 |
T |
C |
10: 19,724,944 (GRCm39) |
E304G |
probably damaging |
Het |
| Snta1 |
A |
G |
2: 154,225,757 (GRCm39) |
V209A |
probably benign |
Het |
| Spdye4b |
A |
T |
5: 143,181,430 (GRCm39) |
D95V |
probably damaging |
Het |
| Srek1 |
T |
C |
13: 103,880,194 (GRCm39) |
T455A |
unknown |
Het |
| Tie1 |
T |
A |
4: 118,341,550 (GRCm39) |
E254V |
probably damaging |
Het |
| Tigd4 |
A |
G |
3: 84,501,452 (GRCm39) |
H123R |
probably benign |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Trim60 |
C |
T |
8: 65,453,251 (GRCm39) |
A333T |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,232,339 (GRCm39) |
R779S |
probably benign |
Het |
| Wdr91 |
T |
C |
6: 34,883,620 (GRCm39) |
R132G |
possibly damaging |
Het |
| Zfp445 |
A |
G |
9: 122,681,421 (GRCm39) |
V840A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGATGTGAAGCTGTTGCACTC -3'
(R):5'- CTTAGGCTATGCAGCCCAGAAAGG -3'
Sequencing Primer
(F):5'- AGCTGTTGCACTCCAGGAAG -3'
(R):5'- CCAGAAAGGAGCAGGGTCTC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation