Incidental Mutation 'R6010:Coro7'
ID |
479731 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Coro7
|
Ensembl Gene |
ENSMUSG00000039637 |
Gene Name |
coronin 7 |
Synonyms |
0610011B16Rik |
MMRRC Submission |
044187-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R6010 (G1)
|
Quality Score |
187.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
4444748-4497584 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4487820 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 130
(E130G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048489
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038552]
[ENSMUST00000090480]
[ENSMUST00000135823]
|
AlphaFold |
Q9D2V7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038552
AA Change: E130G
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000048489 Gene: ENSMUSG00000039637 AA Change: E130G
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: E130G
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000087966 Gene: ENSMUSG00000039637 AA Change: E130G
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 |
probably benign
Transcript: ENSMUST00000135823
AA Change: E130G
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000118310 Gene: ENSMUSG00000039637 AA Change: E130G
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
|
Meta Mutation Damage Score |
0.3255 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
Validation Efficiency |
100% (65/65) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl7a |
A |
G |
4: 56,743,870 (GRCm39) |
I132M |
possibly damaging |
Het |
Agap2 |
A |
T |
10: 126,926,779 (GRCm39) |
I939F |
probably damaging |
Het |
Ahctf1 |
A |
G |
1: 179,623,378 (GRCm39) |
V80A |
possibly damaging |
Het |
Atxn3 |
T |
C |
12: 101,914,285 (GRCm39) |
D67G |
probably damaging |
Het |
Avl9 |
G |
A |
6: 56,730,375 (GRCm39) |
V573M |
possibly damaging |
Het |
Baz1b |
G |
A |
5: 135,246,305 (GRCm39) |
E585K |
possibly damaging |
Het |
Brms1l |
T |
C |
12: 55,914,985 (GRCm39) |
F298S |
possibly damaging |
Het |
Camk2d |
G |
A |
3: 126,591,363 (GRCm39) |
V278I |
possibly damaging |
Het |
Car10 |
A |
G |
11: 93,490,149 (GRCm39) |
I297V |
possibly damaging |
Het |
Cfap65 |
C |
T |
1: 74,962,190 (GRCm39) |
C677Y |
probably damaging |
Het |
Cfap74 |
T |
A |
4: 155,538,495 (GRCm39) |
D872E |
possibly damaging |
Het |
Cgrrf1 |
A |
C |
14: 47,091,158 (GRCm39) |
Q227H |
probably damaging |
Het |
Chil4 |
A |
G |
3: 106,121,711 (GRCm39) |
I46T |
probably damaging |
Het |
Chpf2 |
A |
T |
5: 24,796,917 (GRCm39) |
H621L |
probably damaging |
Het |
Cluap1 |
C |
T |
16: 3,755,437 (GRCm39) |
R351W |
possibly damaging |
Het |
Cnot6 |
A |
T |
11: 49,574,066 (GRCm39) |
Y201* |
probably null |
Het |
Col15a1 |
T |
C |
4: 47,245,630 (GRCm39) |
V127A |
probably benign |
Het |
Col6a3 |
C |
T |
1: 90,701,219 (GRCm39) |
V2566I |
unknown |
Het |
Cope |
T |
A |
8: 70,761,162 (GRCm39) |
M88K |
probably damaging |
Het |
Cops4 |
A |
G |
5: 100,691,776 (GRCm39) |
I358M |
possibly damaging |
Het |
Csrp3 |
A |
G |
7: 48,485,213 (GRCm39) |
|
probably null |
Het |
Cyp4f39 |
T |
C |
17: 32,701,160 (GRCm39) |
F217L |
probably damaging |
Het |
Dmac1 |
A |
G |
4: 75,196,473 (GRCm39) |
S6P |
unknown |
Het |
Drd4 |
A |
T |
7: 140,874,709 (GRCm39) |
I367F |
probably damaging |
Het |
Efcc1 |
T |
A |
6: 87,730,711 (GRCm39) |
|
probably null |
Het |
Emid1 |
A |
T |
11: 5,085,389 (GRCm39) |
M119K |
possibly damaging |
Het |
Fbn2 |
C |
T |
18: 58,202,596 (GRCm39) |
D1237N |
probably benign |
Het |
Fbxl18 |
C |
A |
5: 142,858,153 (GRCm39) |
R761L |
probably damaging |
Het |
Gbp10 |
A |
C |
5: 105,372,205 (GRCm39) |
L185R |
probably damaging |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
Gucd1 |
G |
T |
10: 75,256,600 (GRCm39) |
|
probably benign |
Het |
Helb |
G |
A |
10: 119,941,788 (GRCm39) |
T300M |
probably damaging |
Het |
Ifna11 |
A |
T |
4: 88,738,278 (GRCm39) |
H28L |
probably benign |
Het |
Kalrn |
T |
A |
16: 33,830,950 (GRCm39) |
N723I |
probably benign |
Het |
Kcnb2 |
C |
T |
1: 15,780,790 (GRCm39) |
S554F |
possibly damaging |
Het |
Med1 |
A |
C |
11: 98,049,188 (GRCm39) |
V536G |
probably damaging |
Het |
Nanog |
A |
C |
6: 122,690,255 (GRCm39) |
N195T |
probably benign |
Het |
Neu1 |
C |
T |
17: 35,151,031 (GRCm39) |
S94F |
probably damaging |
Het |
Nop58 |
T |
A |
1: 59,740,071 (GRCm39) |
S154R |
probably damaging |
Het |
Npl |
A |
T |
1: 153,388,314 (GRCm39) |
L239* |
probably null |
Het |
Nrg1 |
G |
A |
8: 32,308,600 (GRCm39) |
T483M |
probably damaging |
Het |
Nup98 |
G |
T |
7: 101,829,636 (GRCm39) |
F391L |
probably damaging |
Het |
Or4c122 |
A |
T |
2: 89,079,087 (GRCm39) |
I305K |
probably benign |
Het |
Or5ar1 |
T |
C |
2: 85,671,905 (GRCm39) |
I77V |
probably benign |
Het |
Or5d47 |
A |
T |
2: 87,804,886 (GRCm39) |
V41E |
probably damaging |
Het |
Or5g26 |
T |
C |
2: 85,494,374 (GRCm39) |
I135V |
probably benign |
Het |
Pacsin2 |
A |
G |
15: 83,266,020 (GRCm39) |
V59A |
possibly damaging |
Het |
Pcsk9 |
C |
T |
4: 106,311,469 (GRCm39) |
R254H |
possibly damaging |
Het |
Pierce2 |
A |
T |
9: 72,887,488 (GRCm39) |
|
probably null |
Het |
Psme2 |
C |
A |
14: 55,824,980 (GRCm39) |
|
probably null |
Het |
Ptprc |
T |
A |
1: 138,028,794 (GRCm39) |
H468L |
probably benign |
Het |
Rbp3 |
T |
A |
14: 33,676,604 (GRCm39) |
I184N |
probably damaging |
Het |
Serpinb1c |
A |
G |
13: 33,066,042 (GRCm39) |
L301P |
probably damaging |
Het |
Smim6 |
G |
T |
11: 115,804,219 (GRCm39) |
G2V |
probably damaging |
Het |
Snrpb2 |
A |
G |
2: 142,912,815 (GRCm39) |
D146G |
possibly damaging |
Het |
Svep1 |
T |
A |
4: 58,115,832 (GRCm39) |
S954C |
possibly damaging |
Het |
Telo2 |
G |
T |
17: 25,323,852 (GRCm39) |
T568N |
possibly damaging |
Het |
Tpp2 |
T |
C |
1: 43,990,373 (GRCm39) |
|
probably null |
Het |
Upf1 |
A |
G |
8: 70,789,675 (GRCm39) |
V720A |
probably damaging |
Het |
Vmn1r81 |
T |
C |
7: 11,994,349 (GRCm39) |
I86M |
possibly damaging |
Het |
Vps8 |
T |
A |
16: 21,363,955 (GRCm39) |
|
probably benign |
Het |
Wdr70 |
T |
C |
15: 7,916,900 (GRCm39) |
|
probably null |
Het |
Zfp385c |
A |
T |
11: 100,548,363 (GRCm39) |
S30T |
probably benign |
Het |
Zfp607a |
T |
A |
7: 27,577,254 (GRCm39) |
L108* |
probably null |
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 |
|
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 |
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'- GTACTCTTACCCACTGAGCC -3'
(R):5'- TTGATAGGACCAGGATAGCTTTGG -3'
Sequencing Primer
(F):5'- TTACCCACTGAGCCATCTCAC -3'
(R):5'- CCAGGATAGCTTTGGGCAGGTC -3'
|
Posted On |
2017-06-26 |