Incidental Mutation 'IGL00952:Coro6'
ID |
28579 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Coro6
|
Ensembl Gene |
ENSMUSG00000020836 |
Gene Name |
coronin 6 |
Synonyms |
clipin E |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00952
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
77353237-77361310 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 77359291 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 288
(D288V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104028
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021190]
[ENSMUST00000037593]
[ENSMUST00000052515]
[ENSMUST00000079770]
[ENSMUST00000092892]
[ENSMUST00000102493]
[ENSMUST00000108391]
[ENSMUST00000130255]
[ENSMUST00000145934]
|
AlphaFold |
Q920M5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021190
AA Change: D288V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021190 Gene: ENSMUSG00000020836 AA Change: D288V
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 damaging
Transcript: ENSMUST00000052515
AA Change: D248V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000056862 Gene: ENSMUSG00000020836 AA Change: D248V
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 damaging
Transcript: ENSMUST00000079770
AA Change: D248V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078703 Gene: ENSMUSG00000020836 AA Change: D248V
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 damaging
Transcript: ENSMUST00000102493
AA Change: D288V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099551 Gene: ENSMUSG00000020836 AA Change: D288V
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 damaging
Transcript: ENSMUST00000108391
AA Change: D288V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104028 Gene: ENSMUSG00000020836 AA Change: D288V
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: ENSMUST00000127291
|
SMART Domains |
Protein: ENSMUSP00000118247 Gene: ENSMUSG00000037907
Domain | Start | End | E-Value | Type |
Pfam:GPCR_chapero_1
|
1 |
120 |
9.7e-31 |
PFAM |
low complexity region
|
121 |
133 |
N/A |
INTRINSIC |
low complexity region
|
184 |
200 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130255
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009J06Rik |
T |
G |
6: 40,941,733 (GRCm39) |
I4S |
probably benign |
Het |
Abca8b |
A |
G |
11: 109,859,886 (GRCm39) |
|
probably null |
Het |
Aftph |
A |
T |
11: 20,677,483 (GRCm39) |
V42E |
probably damaging |
Het |
AI467606 |
A |
G |
7: 126,691,874 (GRCm39) |
S150G |
probably damaging |
Het |
Art4 |
T |
C |
6: 136,831,818 (GRCm39) |
N108D |
possibly damaging |
Het |
B9d1 |
G |
A |
11: 61,403,504 (GRCm39) |
V167I |
possibly damaging |
Het |
Ccdc47 |
A |
T |
11: 106,094,358 (GRCm39) |
|
probably null |
Het |
Ccdc96 |
T |
A |
5: 36,642,424 (GRCm39) |
|
probably benign |
Het |
Cfap44 |
A |
G |
16: 44,241,638 (GRCm39) |
I670V |
probably benign |
Het |
Col18a1 |
T |
G |
10: 76,905,813 (GRCm39) |
K909Q |
possibly damaging |
Het |
Col8a2 |
A |
G |
4: 126,203,584 (GRCm39) |
Y59C |
probably damaging |
Het |
Cul4a |
C |
T |
8: 13,196,562 (GRCm39) |
L739F |
probably damaging |
Het |
Dmxl2 |
C |
T |
9: 54,324,166 (GRCm39) |
V1073I |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,160,386 (GRCm39) |
T115A |
possibly damaging |
Het |
Fdx2 |
A |
G |
9: 20,984,558 (GRCm39) |
|
probably null |
Het |
Flnc |
C |
T |
6: 29,459,546 (GRCm39) |
Q2549* |
probably null |
Het |
Foxn2 |
T |
C |
17: 88,783,308 (GRCm39) |
C188R |
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Ilf3 |
T |
C |
9: 21,307,347 (GRCm39) |
L343P |
probably damaging |
Het |
Itgb2l |
C |
T |
16: 96,227,950 (GRCm39) |
G518S |
probably damaging |
Het |
Itpr2 |
T |
A |
6: 146,060,459 (GRCm39) |
I2486F |
probably damaging |
Het |
Kat2a |
A |
G |
11: 100,596,977 (GRCm39) |
V681A |
probably damaging |
Het |
Kif17 |
A |
G |
4: 137,990,019 (GRCm39) |
N69S |
possibly damaging |
Het |
Kif26b |
G |
A |
1: 178,759,770 (GRCm39) |
D2106N |
probably damaging |
Het |
Klf6 |
A |
G |
13: 5,911,680 (GRCm39) |
T15A |
probably benign |
Het |
Lyst |
A |
G |
13: 13,852,692 (GRCm39) |
T2231A |
probably benign |
Het |
Mark4 |
T |
C |
7: 19,165,749 (GRCm39) |
T515A |
possibly damaging |
Het |
Mast3 |
A |
T |
8: 71,233,327 (GRCm39) |
|
probably benign |
Het |
Nalcn |
T |
C |
14: 123,586,201 (GRCm39) |
K722R |
probably benign |
Het |
Ncf2 |
G |
A |
1: 152,711,857 (GRCm39) |
E524K |
probably benign |
Het |
Or56a3b |
A |
G |
7: 104,771,614 (GRCm39) |
|
probably null |
Het |
Or5p81 |
A |
G |
7: 108,267,445 (GRCm39) |
N274S |
possibly damaging |
Het |
Or5w12 |
A |
T |
2: 87,502,159 (GRCm39) |
I184N |
probably damaging |
Het |
Or8c17 |
A |
T |
9: 38,179,801 (GRCm39) |
|
probably benign |
Het |
Plcg2 |
A |
T |
8: 118,333,956 (GRCm39) |
M910L |
probably benign |
Het |
Pramel14 |
T |
C |
4: 143,719,894 (GRCm39) |
H157R |
probably benign |
Het |
Rai1 |
A |
T |
11: 60,078,818 (GRCm39) |
K961* |
probably null |
Het |
Rsph14 |
T |
C |
10: 74,865,601 (GRCm39) |
D112G |
probably benign |
Het |
Sgo1 |
T |
A |
17: 53,994,275 (GRCm39) |
D59V |
probably damaging |
Het |
Slc22a29 |
A |
T |
19: 8,195,221 (GRCm39) |
V138E |
probably damaging |
Het |
Slc9a1 |
T |
A |
4: 133,143,693 (GRCm39) |
V393D |
probably damaging |
Het |
Smg6 |
A |
G |
11: 74,819,974 (GRCm39) |
R82G |
probably benign |
Het |
Sppl3 |
T |
C |
5: 115,212,935 (GRCm39) |
S55P |
probably benign |
Het |
Srsf12 |
A |
C |
4: 33,226,103 (GRCm39) |
Q122P |
possibly damaging |
Het |
Tas1r2 |
T |
C |
4: 139,382,563 (GRCm39) |
M67T |
probably benign |
Het |
Thnsl1 |
G |
A |
2: 21,216,767 (GRCm39) |
V174I |
possibly damaging |
Het |
Thumpd1 |
A |
G |
7: 119,316,232 (GRCm39) |
V239A |
possibly damaging |
Het |
Tnxb |
T |
G |
17: 34,932,102 (GRCm39) |
Y2212D |
probably damaging |
Het |
Trim40 |
T |
C |
17: 37,193,289 (GRCm39) |
*213W |
probably null |
Het |
Ttc16 |
T |
C |
2: 32,660,259 (GRCm39) |
D183G |
probably damaging |
Het |
|
Other mutations in Coro6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R3700:Coro6
|
UTSW |
11 |
77,358,129 (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 |
|
Posted On |
2013-04-17 |