Incidental Mutation 'R4789:Coro7'
| ID |
367357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coro7
|
| Ensembl Gene |
ENSMUSG00000039637 |
| Gene Name |
coronin 7 |
| Synonyms |
0610011B16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R4789 (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 C
at 4446085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 880
(Y880C)
|
| 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 |
probably damaging
Transcript: ENSMUST00000038552
AA Change: Y880C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000048489
Gene: ENSMUSG00000039637
AA Change: Y880C
| 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 |
noncoding transcript
Transcript: ENSMUST00000229767
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156889
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004F10Rik |
C |
A |
7: 115,692,757 (GRCm39) |
D20E |
probably benign |
Het |
| Abcb9 |
T |
A |
5: 124,216,853 (GRCm39) |
M455L |
probably benign |
Het |
| Add2 |
G |
A |
6: 86,095,752 (GRCm39) |
V475M |
probably benign |
Het |
| Apoh |
T |
A |
11: 108,300,064 (GRCm39) |
Y238N |
probably damaging |
Het |
| Arpp21 |
A |
G |
9: 111,896,360 (GRCm39) |
S681P |
probably benign |
Het |
| Atp1a3 |
A |
C |
7: 24,698,389 (GRCm39) |
F149C |
probably damaging |
Het |
| B9d1 |
A |
G |
11: 61,397,186 (GRCm39) |
D27G |
probably benign |
Het |
| Bfar |
T |
A |
16: 13,503,001 (GRCm39) |
M1K |
probably null |
Het |
| Bok |
T |
C |
1: 93,616,963 (GRCm39) |
V103A |
probably damaging |
Het |
| Brca1 |
A |
C |
11: 101,414,758 (GRCm39) |
H1125Q |
probably benign |
Het |
| Card9 |
T |
A |
2: 26,247,632 (GRCm39) |
M218L |
probably damaging |
Het |
| Cers1 |
T |
C |
8: 70,776,018 (GRCm39) |
V303A |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,814,534 (GRCm39) |
I493V |
unknown |
Het |
| Cyp2b19 |
T |
C |
7: 26,463,801 (GRCm39) |
Y318H |
probably benign |
Het |
| Dennd3 |
T |
A |
15: 73,394,131 (GRCm39) |
L52Q |
probably damaging |
Het |
| Dlat |
A |
T |
9: 50,570,670 (GRCm39) |
C33S |
probably benign |
Het |
| Dmxl2 |
T |
A |
9: 54,287,099 (GRCm39) |
Q2646L |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,610,295 (GRCm39) |
N1703D |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,518,998 (GRCm39) |
H1241L |
probably damaging |
Het |
| Fbxl17 |
T |
G |
17: 63,794,910 (GRCm39) |
I391L |
probably benign |
Het |
| Fdxacb1 |
A |
G |
9: 50,681,418 (GRCm39) |
D113G |
possibly damaging |
Het |
| Flii |
A |
G |
11: 60,605,919 (GRCm39) |
S1185P |
probably benign |
Het |
| Gm14496 |
A |
T |
2: 181,637,577 (GRCm39) |
Q217L |
possibly damaging |
Het |
| Heatr9 |
A |
T |
11: 83,410,018 (GRCm39) |
D74E |
probably benign |
Het |
| Heca |
C |
A |
10: 17,783,895 (GRCm39) |
E91* |
probably null |
Het |
| Ikzf4 |
T |
G |
10: 128,468,575 (GRCm39) |
T635P |
probably benign |
Het |
| Kif17 |
C |
T |
4: 138,008,688 (GRCm39) |
P382S |
probably damaging |
Het |
| Kmt5b |
T |
C |
19: 3,865,330 (GRCm39) |
V775A |
probably benign |
Het |
| Mapk8ip2 |
T |
A |
15: 89,343,241 (GRCm39) |
F661Y |
probably damaging |
Het |
| Mapkap1 |
A |
G |
2: 34,423,859 (GRCm39) |
E111G |
possibly damaging |
Het |
| Med9 |
T |
A |
11: 59,839,266 (GRCm39) |
N58K |
probably benign |
Het |
| Mid2 |
T |
A |
X: 139,578,981 (GRCm39) |
Y61N |
probably damaging |
Het |
| Mief1 |
T |
A |
15: 80,132,080 (GRCm39) |
Y50* |
probably null |
Het |
| Mios |
T |
C |
6: 8,235,429 (GRCm39) |
M859T |
probably benign |
Het |
| Muc5ac |
G |
T |
7: 141,352,619 (GRCm39) |
C702F |
possibly damaging |
Het |
| Nkiras1 |
T |
C |
14: 18,276,935 (GRCm38) |
|
probably benign |
Het |
| Or11i1 |
A |
C |
3: 106,729,608 (GRCm39) |
I89R |
possibly damaging |
Het |
| Or11i1 |
T |
A |
3: 106,729,624 (GRCm39) |
M84L |
possibly damaging |
Het |
| Or56a3b |
T |
G |
7: 104,771,520 (GRCm39) |
H285Q |
probably null |
Het |
| Or5ae2 |
T |
A |
7: 84,506,509 (GRCm39) |
C311S |
probably benign |
Het |
| Pcsk5 |
C |
T |
19: 17,410,963 (GRCm39) |
V1810M |
probably benign |
Het |
| Pex1 |
T |
C |
5: 3,680,270 (GRCm39) |
V964A |
probably damaging |
Het |
| Pgm2l1 |
A |
T |
7: 99,916,794 (GRCm39) |
M471L |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,738,314 (GRCm39) |
T2182A |
probably damaging |
Het |
| Plscr1l1 |
G |
A |
9: 92,233,084 (GRCm39) |
C69Y |
probably damaging |
Het |
| Polr1b |
T |
A |
2: 128,951,257 (GRCm39) |
I290K |
probably benign |
Het |
| Prkg1 |
T |
A |
19: 31,563,045 (GRCm39) |
M119L |
probably damaging |
Het |
| Rbl1 |
A |
G |
2: 157,019,275 (GRCm39) |
V490A |
probably benign |
Het |
| Shtn1 |
G |
C |
19: 59,039,305 (GRCm39) |
R45G |
probably damaging |
Het |
| Slc10a6 |
T |
A |
5: 103,776,848 (GRCm39) |
Y84F |
probably benign |
Het |
| Slc25a23 |
T |
C |
17: 57,366,597 (GRCm39) |
D26G |
probably damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,152,320 (GRCm39) |
K52E |
probably damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,247,951 (GRCm39) |
F501L |
probably benign |
Het |
| Slfn5 |
T |
A |
11: 82,847,226 (GRCm39) |
M37K |
probably benign |
Het |
| Sptbn1 |
A |
C |
11: 30,067,759 (GRCm39) |
F1818L |
probably benign |
Het |
| Taf3 |
T |
C |
2: 9,956,770 (GRCm39) |
T466A |
probably damaging |
Het |
| Thbs2 |
C |
T |
17: 14,891,750 (GRCm39) |
G929D |
probably damaging |
Het |
| Tmc3 |
A |
T |
7: 83,271,746 (GRCm39) |
D995V |
probably damaging |
Het |
| Tmem262 |
T |
C |
19: 6,130,452 (GRCm39) |
F59L |
possibly damaging |
Het |
| Triobp |
A |
G |
15: 78,875,228 (GRCm39) |
D137G |
probably damaging |
Het |
| Tspear |
T |
C |
10: 77,702,199 (GRCm39) |
F211L |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,728,670 (GRCm39) |
|
probably benign |
Het |
| Ugt2b5 |
T |
A |
5: 87,287,550 (GRCm39) |
M206L |
probably benign |
Het |
| Ush1g |
A |
T |
11: 115,209,466 (GRCm39) |
S243T |
probably damaging |
Het |
| Usp19 |
A |
T |
9: 108,370,433 (GRCm39) |
T86S |
possibly damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,506,149 (GRCm39) |
V255A |
probably benign |
Het |
| Wdr11 |
G |
A |
7: 129,220,394 (GRCm39) |
W594* |
probably null |
Het |
| Wnk3 |
T |
A |
X: 149,993,933 (GRCm39) |
Y331* |
probably null |
Het |
| Zfp429 |
A |
T |
13: 67,538,523 (GRCm39) |
I307K |
probably benign |
Het |
| Zkscan14 |
T |
A |
5: 145,132,444 (GRCm39) |
K362N |
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 |
|
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'- GACCAAGGGCTTAGGTCTTC -3'
(R):5'- GGTGAACAGGGGCTTTAATAAC -3'
Sequencing Primer
(F):5'- TGTGACTCCCTACCCAGAG -3'
(R):5'- CAGGGGCTTTAATAACTTGTTAATGC -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation