Incidental Mutation 'R6619:Coro6'
ID |
524292 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Coro6
|
Ensembl Gene |
ENSMUSG00000020836 |
Gene Name |
coronin 6 |
Synonyms |
clipin E |
MMRRC Submission |
044742-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6619 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
77353237-77361310 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 77357030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 111
(I111V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104028
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021190]
[ENSMUST00000037593]
[ENSMUST00000052515]
[ENSMUST00000079770]
[ENSMUST00000092892]
[ENSMUST00000102493]
[ENSMUST00000108391]
[ENSMUST00000145934]
[ENSMUST00000130255]
|
AlphaFold |
Q920M5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021190
AA Change: I111V
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000021190 Gene: ENSMUSG00000020836 AA Change: I111V
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
AA Change: I111V
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000056862 Gene: ENSMUSG00000020836 AA Change: I111V
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 |
possibly damaging
Transcript: ENSMUST00000079770
AA Change: I111V
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000078703 Gene: ENSMUSG00000020836 AA Change: I111V
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 |
possibly damaging
Transcript: ENSMUST00000102493
AA Change: I111V
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000099551 Gene: ENSMUSG00000020836 AA Change: I111V
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 |
possibly damaging
Transcript: ENSMUST00000108391
AA Change: I111V
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104028 Gene: ENSMUSG00000020836 AA Change: I111V
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: 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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143872
|
Meta Mutation Damage Score |
0.4682 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp13a5 |
G |
A |
16: 29,167,833 (GRCm39) |
P109S |
probably benign |
Het |
Baiap2l1 |
T |
C |
5: 144,222,916 (GRCm39) |
K106R |
probably benign |
Het |
Crocc2 |
A |
G |
1: 93,118,223 (GRCm39) |
E382G |
probably benign |
Het |
Dhrs7l |
A |
T |
12: 72,668,724 (GRCm39) |
N44K |
possibly damaging |
Het |
Dnah5 |
C |
A |
15: 28,409,266 (GRCm39) |
N3561K |
probably benign |
Het |
Dsc2 |
T |
A |
18: 20,165,335 (GRCm39) |
E879D |
probably benign |
Het |
Frk |
A |
G |
10: 34,481,835 (GRCm39) |
Y375C |
probably benign |
Het |
Herc2 |
A |
T |
7: 55,717,840 (GRCm39) |
R61* |
probably null |
Het |
Jarid2 |
A |
G |
13: 45,027,872 (GRCm39) |
D146G |
probably damaging |
Het |
Lancl2 |
C |
A |
6: 57,699,566 (GRCm39) |
T127K |
probably damaging |
Het |
Large1 |
G |
A |
8: 73,609,892 (GRCm39) |
Q359* |
probably null |
Het |
Mast2 |
C |
A |
4: 116,173,694 (GRCm39) |
E521* |
probably null |
Het |
Mrc1 |
T |
A |
2: 14,299,597 (GRCm39) |
|
probably null |
Het |
Obi1 |
T |
C |
14: 104,759,993 (GRCm39) |
H19R |
possibly damaging |
Het |
Or4z4 |
A |
G |
19: 12,076,727 (GRCm39) |
I92T |
probably damaging |
Het |
Or5ak23 |
T |
C |
2: 85,244,425 (GRCm39) |
N266S |
probably benign |
Het |
Or6c38 |
A |
T |
10: 128,929,323 (GRCm39) |
D173E |
possibly damaging |
Het |
Or8k38 |
T |
C |
2: 86,488,406 (GRCm39) |
Y132C |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
P2ry14 |
T |
C |
3: 59,023,154 (GRCm39) |
Y102C |
probably damaging |
Het |
Pcdhga6 |
T |
A |
18: 37,842,702 (GRCm39) |
D807E |
probably benign |
Het |
Pcdhgb4 |
T |
A |
18: 37,854,737 (GRCm39) |
N377K |
probably damaging |
Het |
Phf13 |
T |
A |
4: 152,076,114 (GRCm39) |
N263Y |
probably damaging |
Het |
Rab19 |
T |
A |
6: 39,365,060 (GRCm39) |
S107T |
probably damaging |
Het |
Rasgrf2 |
A |
T |
13: 92,165,027 (GRCm39) |
F380I |
probably damaging |
Het |
Reep1 |
T |
C |
6: 71,784,826 (GRCm39) |
|
probably benign |
Het |
Rpgrip1l |
C |
T |
8: 91,959,499 (GRCm39) |
E1134K |
possibly damaging |
Het |
Serpina3m |
A |
T |
12: 104,357,766 (GRCm39) |
Y230F |
probably benign |
Het |
Skint3 |
T |
C |
4: 112,111,061 (GRCm39) |
I62T |
probably damaging |
Het |
Smg6 |
T |
C |
11: 74,823,279 (GRCm39) |
|
probably null |
Het |
Sp4 |
G |
A |
12: 118,263,077 (GRCm39) |
T323I |
possibly damaging |
Het |
Strc |
A |
G |
2: 121,198,913 (GRCm39) |
I1378T |
probably damaging |
Het |
Tepsin |
C |
T |
11: 119,986,428 (GRCm39) |
G128D |
probably benign |
Het |
Togaram2 |
A |
G |
17: 71,996,266 (GRCm39) |
N89D |
probably damaging |
Het |
Trim36 |
T |
C |
18: 46,321,475 (GRCm39) |
T191A |
probably damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,077,980 (GRCm39) |
|
probably null |
Het |
Zfp418 |
G |
A |
7: 7,184,895 (GRCm39) |
C286Y |
probably damaging |
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 |
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 |
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 |
PCR Primer
(F):5'- GCACTCTGAAGTTTTCTTGACAG -3'
(R):5'- AGTGACCAGGCGTATCATCC -3'
Sequencing Primer
(F):5'- TTCTTGACAGAGTAAGGCAGTC -3'
(R):5'- GCGTATCATCCGAGGCTCTC -3'
|
Posted On |
2018-06-22 |