Incidental Mutation 'R5756:Coro7'
ID |
445071 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Coro7
|
Ensembl Gene |
ENSMUSG00000039637 |
Gene Name |
coronin 7 |
Synonyms |
0610011B16Rik |
MMRRC Submission |
043359-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R5756 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
4444748-4497584 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 4450148 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 567
(R567Q)
|
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: R567Q
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000048489 Gene: ENSMUSG00000039637 AA Change: R567Q
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 |
0.6048 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
100% (60/60) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579C12Rik |
A |
G |
9: 89,010,919 (GRCm39) |
|
noncoding transcript |
Het |
Aqp6 |
A |
T |
15: 99,500,623 (GRCm39) |
I183F |
probably damaging |
Het |
Asap1 |
A |
T |
15: 64,039,556 (GRCm39) |
M218K |
probably damaging |
Het |
Astn2 |
G |
A |
4: 66,037,425 (GRCm39) |
|
probably benign |
Het |
Bmp5 |
A |
G |
9: 75,683,649 (GRCm39) |
D92G |
probably benign |
Het |
Cables1 |
A |
G |
18: 12,074,410 (GRCm39) |
D511G |
probably damaging |
Het |
Cacna1e |
A |
G |
1: 154,347,383 (GRCm39) |
M928T |
probably benign |
Het |
Calcoco1 |
T |
C |
15: 102,628,086 (GRCm39) |
N16S |
probably benign |
Het |
Catspere2 |
A |
T |
1: 177,943,793 (GRCm39) |
Q710L |
unknown |
Het |
Dgki |
C |
T |
6: 36,913,993 (GRCm39) |
|
probably benign |
Het |
Dusp11 |
T |
C |
6: 85,929,339 (GRCm39) |
I147V |
probably damaging |
Het |
Eif2ak4 |
T |
C |
2: 118,293,221 (GRCm39) |
I1259T |
possibly damaging |
Het |
Elapor2 |
A |
C |
5: 9,512,995 (GRCm39) |
K996N |
probably damaging |
Het |
Etfdh |
T |
C |
3: 79,521,063 (GRCm39) |
I219V |
probably benign |
Het |
Ffar4 |
C |
T |
19: 38,102,406 (GRCm39) |
T347I |
probably damaging |
Het |
Fgf3 |
G |
A |
7: 144,396,688 (GRCm39) |
S234N |
probably benign |
Het |
Fnta |
A |
T |
8: 26,499,735 (GRCm39) |
I155N |
possibly damaging |
Het |
Gcm2 |
G |
A |
13: 41,263,372 (GRCm39) |
T20M |
probably damaging |
Het |
Ggt5 |
A |
T |
10: 75,440,607 (GRCm39) |
M243L |
probably benign |
Het |
Ggta1 |
T |
C |
2: 35,292,395 (GRCm39) |
Y304C |
probably damaging |
Het |
Gm5454 |
A |
G |
13: 103,492,855 (GRCm39) |
|
noncoding transcript |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Hrc |
T |
C |
7: 44,986,130 (GRCm39) |
V427A |
possibly damaging |
Het |
Ibtk |
C |
G |
9: 85,613,307 (GRCm39) |
V219L |
possibly damaging |
Het |
Ift140 |
A |
G |
17: 25,247,787 (GRCm39) |
H215R |
possibly damaging |
Het |
Itln1 |
A |
G |
1: 171,344,485 (GRCm39) |
|
probably benign |
Het |
Kif13b |
T |
C |
14: 64,973,754 (GRCm39) |
I368T |
probably damaging |
Het |
Lars2 |
T |
C |
9: 123,267,264 (GRCm39) |
Y529H |
probably damaging |
Het |
Lrrc55 |
G |
A |
2: 85,026,727 (GRCm39) |
T99I |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,371,410 (GRCm39) |
I4156N |
probably damaging |
Het |
Myo1c |
T |
G |
11: 75,549,240 (GRCm39) |
M137R |
probably benign |
Het |
Or51i1 |
T |
C |
7: 103,670,889 (GRCm39) |
D212G |
probably damaging |
Het |
Or6c8b |
A |
G |
10: 128,882,095 (GRCm39) |
V279A |
probably benign |
Het |
Or8b54 |
T |
A |
9: 38,686,554 (GRCm39) |
M1K |
probably null |
Het |
Pde7a |
A |
G |
3: 19,319,009 (GRCm39) |
V12A |
probably benign |
Het |
Phyhip |
T |
G |
14: 70,704,532 (GRCm39) |
C250W |
probably damaging |
Het |
Pisd |
G |
A |
5: 32,895,842 (GRCm39) |
T412I |
probably damaging |
Het |
Polr3c |
T |
C |
3: 96,621,450 (GRCm39) |
N444S |
probably damaging |
Het |
Sart1 |
T |
C |
19: 5,430,497 (GRCm39) |
E750G |
probably damaging |
Het |
Sh3rf3 |
T |
C |
10: 58,940,204 (GRCm39) |
V675A |
probably damaging |
Het |
Slc4a11 |
G |
T |
2: 130,529,783 (GRCm39) |
D307E |
probably benign |
Het |
Slc6a16 |
A |
T |
7: 44,910,274 (GRCm39) |
I315F |
possibly damaging |
Het |
Smarca5 |
A |
C |
8: 81,437,233 (GRCm39) |
S708A |
probably benign |
Het |
Sv2c |
T |
C |
13: 96,122,475 (GRCm39) |
I434V |
probably benign |
Het |
Tars3 |
A |
G |
7: 65,325,724 (GRCm39) |
K433E |
probably benign |
Het |
Tbx15 |
A |
T |
3: 99,220,402 (GRCm39) |
I165F |
probably damaging |
Het |
Tep1 |
C |
T |
14: 51,074,836 (GRCm39) |
|
probably null |
Het |
Tex15 |
G |
A |
8: 34,065,861 (GRCm39) |
G1764S |
probably benign |
Het |
Tnfrsf19 |
A |
G |
14: 61,262,224 (GRCm39) |
L13P |
probably benign |
Het |
Tnnt3 |
G |
A |
7: 142,056,495 (GRCm39) |
|
probably null |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Usp24 |
T |
A |
4: 106,219,680 (GRCm39) |
I597K |
probably damaging |
Het |
Usp40 |
C |
T |
1: 87,879,413 (GRCm39) |
R960Q |
possibly damaging |
Het |
Vps53 |
A |
T |
11: 75,983,156 (GRCm39) |
|
probably benign |
Het |
Xylt1 |
C |
T |
7: 117,249,927 (GRCm39) |
T699I |
probably damaging |
Het |
Zfp81 |
A |
C |
17: 33,553,307 (GRCm39) |
Y502* |
probably null |
Het |
Zfyve26 |
T |
A |
12: 79,311,131 (GRCm39) |
H145L |
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 |
|
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 |
|
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'- TTAGATCATAGGAACTGGAAGCC -3'
(R):5'- TGGTCTGGGATCCCTTTGAC -3'
Sequencing Primer
(F):5'- AGCGCAGAGAGTAGATCTTTTC -3'
(R):5'- GGGATCCCTTTGACCCACAC -3'
|
Posted On |
2016-11-21 |