Incidental Mutation 'R1670:Coro7'
ID |
187577 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Coro7
|
Ensembl Gene |
ENSMUSG00000039637 |
Gene Name |
coronin 7 |
Synonyms |
0610011B16Rik |
MMRRC Submission |
039706-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R1670 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
4444748-4497584 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 4446097 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 876
(S876F)
|
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 |
possibly damaging
Transcript: ENSMUST00000038552
AA Change: S876F
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000048489 Gene: ENSMUSG00000039637 AA Change: S876F
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 |
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: ENSMUST00000150028
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150724
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151156
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156889
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229767
|
Meta Mutation Damage Score |
0.1300 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.3%
|
Validation Efficiency |
97% (74/76) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
G |
6: 142,540,448 (GRCm39) |
V1497A |
possibly damaging |
Het |
Adam15 |
T |
C |
3: 89,255,817 (GRCm39) |
|
probably benign |
Het |
Angel2 |
T |
A |
1: 190,674,360 (GRCm39) |
S371T |
probably benign |
Het |
Atr |
T |
A |
9: 95,743,509 (GRCm39) |
N49K |
probably benign |
Het |
Bace2 |
G |
A |
16: 97,213,335 (GRCm39) |
M228I |
probably damaging |
Het |
Bdp1 |
A |
C |
13: 100,163,941 (GRCm39) |
|
probably null |
Het |
Calr |
A |
T |
8: 85,570,748 (GRCm39) |
D302E |
probably benign |
Het |
Camta1 |
T |
C |
4: 151,164,228 (GRCm39) |
D340G |
probably benign |
Het |
Car11 |
C |
T |
7: 45,352,949 (GRCm39) |
T236I |
possibly damaging |
Het |
Cfap69 |
A |
T |
5: 5,636,409 (GRCm39) |
S275T |
probably benign |
Het |
Cib2 |
G |
A |
9: 54,455,653 (GRCm39) |
R104W |
probably damaging |
Het |
CN725425 |
T |
C |
15: 91,130,018 (GRCm39) |
S294P |
possibly damaging |
Het |
Cspg4 |
G |
A |
9: 56,804,687 (GRCm39) |
V1833M |
probably damaging |
Het |
Dennd6b |
C |
A |
15: 89,069,540 (GRCm39) |
|
probably benign |
Het |
Dhx30 |
A |
T |
9: 109,914,341 (GRCm39) |
Y979N |
possibly damaging |
Het |
Dnaaf9 |
G |
A |
2: 130,554,299 (GRCm39) |
P187S |
probably damaging |
Het |
Dnah8 |
A |
T |
17: 30,944,098 (GRCm39) |
I1772F |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 6,993,942 (GRCm39) |
I3976N |
possibly damaging |
Het |
Ebi3 |
T |
C |
17: 56,261,479 (GRCm39) |
I125T |
probably damaging |
Het |
Elfn2 |
C |
T |
15: 78,556,568 (GRCm39) |
A660T |
probably benign |
Het |
F12 |
C |
T |
13: 55,569,346 (GRCm39) |
C209Y |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fgfr2 |
T |
A |
7: 129,782,187 (GRCm39) |
D413V |
probably damaging |
Het |
Gdf10 |
T |
A |
14: 33,654,000 (GRCm39) |
I169N |
possibly damaging |
Het |
Gdnf |
T |
C |
15: 7,845,130 (GRCm39) |
V41A |
probably benign |
Het |
Gm9857 |
A |
T |
3: 108,847,478 (GRCm39) |
|
probably benign |
Het |
Gpatch11 |
A |
G |
17: 79,146,529 (GRCm39) |
E58G |
possibly damaging |
Het |
Gpr55 |
A |
G |
1: 85,869,137 (GRCm39) |
V148A |
possibly damaging |
Het |
Gucy1b1 |
A |
G |
3: 81,952,767 (GRCm39) |
I222T |
probably benign |
Het |
Hnf4a |
T |
C |
2: 163,404,496 (GRCm39) |
S227P |
probably damaging |
Het |
Hsfy2 |
A |
G |
1: 56,675,548 (GRCm39) |
S330P |
possibly damaging |
Het |
Hycc1 |
T |
A |
5: 24,204,989 (GRCm39) |
M1L |
possibly damaging |
Het |
Ift122 |
T |
C |
6: 115,900,844 (GRCm39) |
V1054A |
probably benign |
Het |
Il27 |
T |
A |
7: 126,188,647 (GRCm39) |
E175D |
probably benign |
Het |
Lactb2 |
A |
T |
1: 13,730,641 (GRCm39) |
S12T |
probably damaging |
Het |
Lrfn2 |
T |
C |
17: 49,403,605 (GRCm39) |
V576A |
probably benign |
Het |
Mansc4 |
C |
G |
6: 146,976,689 (GRCm39) |
R309T |
possibly damaging |
Het |
Med12l |
AACAGCA |
AACAGCAACAGCA |
3: 59,183,379 (GRCm39) |
|
probably benign |
Het |
Mrpl16 |
C |
T |
19: 11,751,959 (GRCm39) |
R240* |
probably null |
Het |
Muc17 |
A |
G |
5: 137,172,843 (GRCm39) |
V70A |
probably benign |
Het |
Ndnf |
A |
G |
6: 65,680,054 (GRCm39) |
D111G |
probably benign |
Het |
Nek4 |
T |
C |
14: 30,704,384 (GRCm39) |
F688S |
probably damaging |
Het |
Nkx2-6 |
T |
A |
14: 69,412,126 (GRCm39) |
M98K |
probably benign |
Het |
Nup188 |
T |
C |
2: 30,230,667 (GRCm39) |
S1402P |
probably benign |
Het |
Or10j2 |
T |
A |
1: 173,098,467 (GRCm39) |
S242T |
probably damaging |
Het |
Or2t48 |
A |
T |
11: 58,420,237 (GRCm39) |
S192T |
probably damaging |
Het |
Or4f14b |
C |
T |
2: 111,775,264 (GRCm39) |
C179Y |
probably damaging |
Het |
Or52i2 |
A |
G |
7: 102,319,609 (GRCm39) |
T161A |
possibly damaging |
Het |
Or5ac23 |
A |
T |
16: 59,149,607 (GRCm39) |
N88K |
probably benign |
Het |
Or5ac24 |
T |
C |
16: 59,165,790 (GRCm39) |
I91M |
possibly damaging |
Het |
Or5m9b |
T |
A |
2: 85,905,594 (GRCm39) |
V170D |
probably benign |
Het |
Parp10 |
A |
T |
15: 76,126,270 (GRCm39) |
V306E |
probably benign |
Het |
Pcnx3 |
A |
G |
19: 5,723,343 (GRCm39) |
L1284P |
probably damaging |
Het |
Pld1 |
A |
T |
3: 28,103,389 (GRCm39) |
I365F |
probably benign |
Het |
Pnisr |
A |
G |
4: 21,865,893 (GRCm39) |
D294G |
probably damaging |
Het |
Pogz |
C |
T |
3: 94,786,160 (GRCm39) |
T863I |
probably benign |
Het |
Ptprn2 |
A |
C |
12: 116,685,792 (GRCm39) |
T84P |
possibly damaging |
Het |
Rln1 |
C |
T |
19: 29,309,468 (GRCm39) |
E104K |
possibly damaging |
Het |
Rnf38 |
A |
G |
4: 44,138,681 (GRCm39) |
S271P |
probably damaging |
Het |
Rngtt |
A |
G |
4: 33,368,660 (GRCm39) |
T398A |
probably benign |
Het |
Rprd2 |
G |
T |
3: 95,672,115 (GRCm39) |
T1096K |
probably damaging |
Het |
Sema3e |
C |
T |
5: 14,212,199 (GRCm39) |
|
probably benign |
Het |
Sema5a |
T |
A |
15: 32,548,945 (GRCm39) |
C140S |
probably damaging |
Het |
Shpk |
A |
C |
11: 73,113,757 (GRCm39) |
D390A |
probably benign |
Het |
Slc22a20 |
C |
T |
19: 6,022,876 (GRCm39) |
|
probably benign |
Het |
Steap2 |
A |
G |
5: 5,727,393 (GRCm39) |
V314A |
possibly damaging |
Het |
Stxbp5l |
A |
G |
16: 37,111,289 (GRCm39) |
|
probably null |
Het |
Tgm3 |
G |
T |
2: 129,883,688 (GRCm39) |
E449* |
probably null |
Het |
Tmem68 |
A |
C |
4: 3,560,627 (GRCm39) |
L186V |
probably damaging |
Het |
Ttc41 |
T |
A |
10: 86,612,116 (GRCm39) |
W1130R |
possibly damaging |
Het |
Ttpal |
T |
C |
2: 163,457,286 (GRCm39) |
F253L |
possibly damaging |
Het |
Vmn2r99 |
G |
T |
17: 19,582,514 (GRCm39) |
V40F |
probably benign |
Het |
Xkr9 |
G |
A |
1: 13,771,167 (GRCm39) |
V228M |
probably damaging |
Het |
Zc3h7b |
C |
T |
15: 81,661,268 (GRCm39) |
A369V |
probably benign |
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 |
|
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'- GCATTGCCTCAAAGGCTCAAGTGG -3'
(R):5'- AACCCCTGGAGAGCAAGTTCTGTG -3'
Sequencing Primer
(F):5'- TCAAGTGGACACCAGGCTG -3'
(R):5'- ttgtatacttaacacatgcagtatcc -3'
|
Posted On |
2014-05-09 |