Incidental Mutation 'R3700:Coro6'
| ID |
473268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coro6
|
| Ensembl Gene |
ENSMUSG00000020836 |
| Gene Name |
coronin 6 |
| Synonyms |
clipin E |
| MMRRC Submission |
040693-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3700 (G1)
|
| Quality Score |
106 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77353237-77361310 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77358129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 238
(F238S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021190]
[ENSMUST00000037593]
[ENSMUST00000052515]
[ENSMUST00000079770]
[ENSMUST00000092892]
[ENSMUST00000102493]
[ENSMUST00000108391]
[ENSMUST00000145934]
[ENSMUST00000130255]
|
| AlphaFold |
Q920M5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021190
AA Change: F238S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021190
Gene: ENSMUSG00000020836
AA Change: F238S
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
4 |
68 |
7.45e-34 |
SMART |
|
WD40
|
67 |
110 |
2.1e-7 |
SMART |
|
WD40
|
120 |
160 |
2.07e-6 |
SMART |
|
WD40
|
163 |
203 |
2.73e-6 |
SMART |
|
DUF1900
|
257 |
391 |
1.19e-91 |
SMART |
|
low complexity region
|
414 |
429 |
N/A |
INTRINSIC |
|
coiled coil region
|
430 |
463 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037593
|
| SMART Domains |
Protein: ENSMUSP00000073584
Gene: ENSMUSG00000037907
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
13 |
43 |
3.16e2 |
SMART |
|
ANK
|
47 |
76 |
2.85e-5 |
SMART |
|
ANK
|
80 |
109 |
1.17e2 |
SMART |
|
Pfam:GPCR_chapero_1
|
163 |
491 |
5.5e-111 |
PFAM |
|
UIM
|
503 |
522 |
1.81e-1 |
SMART |
|
low complexity region
|
552 |
580 |
N/A |
INTRINSIC |
|
UIM
|
585 |
604 |
3.15e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052515
|
| SMART Domains |
Protein: ENSMUSP00000056862
Gene: ENSMUSG00000020836
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
4 |
68 |
7.45e-34 |
SMART |
|
WD40
|
67 |
110 |
2.1e-7 |
SMART |
|
WD40
|
120 |
160 |
2.07e-6 |
SMART |
|
WD40
|
163 |
203 |
2.73e-6 |
SMART |
|
DUF1900
|
217 |
351 |
1.19e-91 |
SMART |
|
low complexity region
|
374 |
389 |
N/A |
INTRINSIC |
|
coiled coil region
|
390 |
424 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079770
|
| SMART Domains |
Protein: ENSMUSP00000078703
Gene: ENSMUSG00000020836
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
4 |
68 |
7.45e-34 |
SMART |
|
WD40
|
67 |
110 |
2.1e-7 |
SMART |
|
WD40
|
120 |
160 |
2.07e-6 |
SMART |
|
WD40
|
163 |
203 |
2.73e-6 |
SMART |
|
DUF1900
|
217 |
351 |
1.19e-91 |
SMART |
|
low complexity region
|
374 |
389 |
N/A |
INTRINSIC |
|
coiled coil region
|
390 |
423 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092892
|
| SMART Domains |
Protein: ENSMUSP00000090568
Gene: ENSMUSG00000037907
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
13 |
43 |
3.16e2 |
SMART |
|
ANK
|
47 |
76 |
2.85e-5 |
SMART |
|
ANK
|
80 |
109 |
1.17e2 |
SMART |
|
Pfam:GPCR_chapero_1
|
163 |
490 |
3.2e-110 |
PFAM |
|
UIM
|
503 |
522 |
1.81e-1 |
SMART |
|
low complexity region
|
673 |
686 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102493
|
| SMART Domains |
Protein: ENSMUSP00000099551
Gene: ENSMUSG00000020836
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
4 |
68 |
7.45e-34 |
SMART |
|
WD40
|
67 |
110 |
2.1e-7 |
SMART |
|
WD40
|
120 |
160 |
2.07e-6 |
SMART |
|
WD40
|
163 |
203 |
2.73e-6 |
SMART |
|
DUF1900
|
257 |
391 |
1.19e-91 |
SMART |
|
low complexity region
|
414 |
429 |
N/A |
INTRINSIC |
|
coiled coil region
|
430 |
463 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108391
|
| SMART Domains |
Protein: ENSMUSP00000104028
Gene: ENSMUSG00000020836
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
4 |
68 |
7.45e-34 |
SMART |
|
WD40
|
67 |
110 |
2.1e-7 |
SMART |
|
WD40
|
120 |
160 |
2.07e-6 |
SMART |
|
WD40
|
163 |
203 |
2.73e-6 |
SMART |
|
DUF1900
|
257 |
391 |
1.19e-91 |
SMART |
|
low complexity region
|
414 |
429 |
N/A |
INTRINSIC |
|
coiled coil region
|
430 |
463 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135227
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143872
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145934
|
| SMART Domains |
Protein: ENSMUSP00000119633
Gene: ENSMUSG00000037907
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GPCR_chapero_1
|
2 |
276 |
9.7e-90 |
PFAM |
|
UIM
|
288 |
307 |
1.81e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130255
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
G |
A |
18: 65,438,222 (GRCm39) |
T1524I |
probably damaging |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Arhgap26 |
T |
A |
18: 39,253,237 (GRCm39) |
F221L |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,208,361 (GRCm39) |
S36G |
probably damaging |
Het |
| Bcl11a |
A |
G |
11: 24,113,890 (GRCm39) |
D411G |
probably damaging |
Het |
| Cdh23 |
C |
A |
10: 60,163,149 (GRCm39) |
|
probably null |
Het |
| Cnnm2 |
T |
A |
19: 46,750,990 (GRCm39) |
I260N |
probably damaging |
Het |
| Ddah1 |
G |
A |
3: 145,597,250 (GRCm39) |
M162I |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,387,937 (GRCm39) |
I3132T |
possibly damaging |
Het |
| Drgx |
A |
T |
14: 32,350,818 (GRCm39) |
E218V |
probably damaging |
Het |
| Dync2i1 |
C |
T |
12: 116,175,462 (GRCm39) |
W905* |
probably null |
Het |
| Eif3f |
A |
T |
7: 108,539,482 (GRCm39) |
I251F |
probably benign |
Het |
| Ephx4 |
T |
C |
5: 107,550,673 (GRCm39) |
F11L |
probably benign |
Het |
| Esp1 |
T |
C |
17: 41,041,998 (GRCm39) |
S97P |
unknown |
Het |
| Fbxw10 |
A |
T |
11: 62,759,983 (GRCm39) |
|
probably null |
Het |
| Hsp90ab1 |
T |
C |
17: 45,882,440 (GRCm39) |
T85A |
possibly damaging |
Het |
| Idh2 |
T |
C |
7: 79,748,895 (GRCm39) |
K129E |
probably damaging |
Het |
| Kcnj6 |
A |
G |
16: 94,633,865 (GRCm39) |
I64T |
probably damaging |
Het |
| Klk1b5 |
T |
A |
7: 43,500,251 (GRCm39) |
C280S |
probably damaging |
Het |
| Lhx2 |
T |
A |
2: 38,250,111 (GRCm39) |
L269H |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,653,185 (GRCm39) |
|
probably null |
Het |
| Lss |
T |
A |
10: 76,382,026 (GRCm39) |
L484Q |
probably damaging |
Het |
| Mmp14 |
G |
A |
14: 54,669,389 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,400,986 (GRCm39) |
T534A |
unknown |
Het |
| Mysm1 |
T |
C |
4: 94,858,889 (GRCm39) |
K87E |
probably benign |
Het |
| Or6d13 |
T |
A |
6: 116,517,489 (GRCm39) |
V25E |
probably benign |
Het |
| Or6f2 |
C |
G |
7: 139,756,127 (GRCm39) |
F37L |
possibly damaging |
Het |
| Pcolce |
T |
C |
5: 137,607,309 (GRCm39) |
T61A |
probably damaging |
Het |
| Phc3 |
C |
A |
3: 30,968,277 (GRCm39) |
D920Y |
probably damaging |
Het |
| Pi4kb |
T |
C |
3: 94,901,599 (GRCm39) |
I422T |
probably benign |
Het |
| Piezo1 |
C |
T |
8: 123,221,642 (GRCm39) |
R584H |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,693,781 (GRCm39) |
F768Y |
probably damaging |
Het |
| Ppp1r21 |
T |
C |
17: 88,889,882 (GRCm39) |
S709P |
possibly damaging |
Het |
| Prdx6 |
T |
C |
1: 161,074,858 (GRCm39) |
D74G |
probably damaging |
Het |
| Rlf |
A |
G |
4: 121,008,060 (GRCm39) |
F307L |
possibly damaging |
Het |
| Skic2 |
T |
C |
17: 35,068,879 (GRCm39) |
E40G |
probably benign |
Het |
| Snapin |
G |
A |
3: 90,397,499 (GRCm39) |
R91* |
probably null |
Het |
| Sort1 |
T |
A |
3: 108,263,955 (GRCm39) |
L838* |
probably null |
Het |
| Sstr4 |
A |
G |
2: 148,238,273 (GRCm39) |
I295V |
possibly damaging |
Het |
| Stk39 |
T |
A |
2: 68,222,462 (GRCm39) |
I201F |
probably damaging |
Het |
| Tasp1 |
T |
C |
2: 139,752,474 (GRCm39) |
T322A |
probably benign |
Het |
| Tepsin |
C |
T |
11: 119,982,579 (GRCm39) |
C491Y |
possibly damaging |
Het |
| Tlr9 |
G |
A |
9: 106,101,278 (GRCm39) |
V190M |
probably damaging |
Het |
| Ttf2 |
A |
G |
3: 100,858,324 (GRCm39) |
L755P |
probably damaging |
Het |
| Txn2 |
G |
A |
15: 77,811,976 (GRCm39) |
T60M |
possibly damaging |
Het |
| Vmn1r10 |
A |
G |
6: 57,091,287 (GRCm39) |
N293S |
probably benign |
Het |
| Vmn1r232 |
A |
G |
17: 21,134,465 (GRCm39) |
L45P |
probably benign |
Het |
| Vmn2r111 |
C |
T |
17: 22,790,142 (GRCm39) |
W288* |
probably null |
Het |
| Vmn2r118 |
T |
C |
17: 55,915,421 (GRCm39) |
S510G |
possibly damaging |
Het |
| Zgpat |
T |
A |
2: 181,007,439 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
G |
T |
11: 72,777,598 (GRCm39) |
G1810C |
probably null |
Het |
|
| Other mutations in Coro6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Coro6
|
APN |
11 |
77,359,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01086:Coro6
|
APN |
11 |
77,357,374 (GRCm39) |
nonsense |
probably null |
|
|
IGL03184:Coro6
|
APN |
11 |
77,354,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:Coro6
|
UTSW |
11 |
77,354,916 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1712:Coro6
|
UTSW |
11 |
77,360,293 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1738:Coro6
|
UTSW |
11 |
77,360,251 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2900:Coro6
|
UTSW |
11 |
77,358,639 (GRCm39) |
missense |
probably benign |
|
|
R3081:Coro6
|
UTSW |
11 |
77,359,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4503:Coro6
|
UTSW |
11 |
77,360,272 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4740:Coro6
|
UTSW |
11 |
77,360,025 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4749:Coro6
|
UTSW |
11 |
77,359,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5501:Coro6
|
UTSW |
11 |
77,358,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5996:Coro6
|
UTSW |
11 |
77,357,322 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6590:Coro6
|
UTSW |
11 |
77,356,606 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6619:Coro6
|
UTSW |
11 |
77,357,030 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6690:Coro6
|
UTSW |
11 |
77,356,606 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7052:Coro6
|
UTSW |
11 |
77,357,056 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7207:Coro6
|
UTSW |
11 |
77,358,089 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7775:Coro6
|
UTSW |
11 |
77,356,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8743:Coro6
|
UTSW |
11 |
77,357,265 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8865:Coro6
|
UTSW |
11 |
77,359,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9169:Coro6
|
UTSW |
11 |
77,359,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9384:Coro6
|
UTSW |
11 |
77,360,218 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0064:Coro6
|
UTSW |
11 |
77,359,434 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Coro6
|
UTSW |
11 |
77,358,691 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Coro6
|
UTSW |
11 |
77,359,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2017-04-14 |
Incidental Mutation