Incidental Mutation 'R3081:Coro6'
| ID |
265443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coro6
|
| Ensembl Gene |
ENSMUSG00000020836 |
| Gene Name |
coronin 6 |
| Synonyms |
clipin E |
| MMRRC Submission |
040571-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3081 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77353237-77361310 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77359738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 336
(F336S)
|
| 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 |
probably damaging
Transcript: ENSMUST00000021190
AA Change: F336S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021190
Gene: ENSMUSG00000020836
AA Change: F336S
| 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: F296S
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000056862
Gene: ENSMUSG00000020836
AA Change: F296S
| 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: F296S
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078703
Gene: ENSMUSG00000020836
AA Change: F296S
| 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: F336S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099551
Gene: ENSMUSG00000020836
AA Change: F336S
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108391
AA Change: F336S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104028
Gene: ENSMUSG00000020836
AA Change: F336S
| 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: ENSMUST00000143872
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135227
|
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.9334 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamdc |
T |
A |
7: 97,214,432 (GRCm39) |
T48S |
probably benign |
Het |
| Abcc3 |
T |
A |
11: 94,247,802 (GRCm39) |
L1230F |
probably damaging |
Het |
| Abcf3 |
T |
A |
16: 20,378,114 (GRCm39) |
I542N |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,226,508 (GRCm39) |
L932P |
probably damaging |
Het |
| Arhgap45 |
G |
A |
10: 79,862,281 (GRCm39) |
R583H |
probably damaging |
Het |
| Asl |
T |
C |
5: 130,042,245 (GRCm39) |
Y277C |
probably damaging |
Het |
| Bcl9 |
A |
T |
3: 97,112,989 (GRCm39) |
N1155K |
possibly damaging |
Het |
| Carm1 |
C |
A |
9: 21,490,692 (GRCm39) |
|
probably null |
Het |
| Cdkn2aip |
T |
C |
8: 48,164,532 (GRCm39) |
K394E |
probably damaging |
Het |
| Cfap70 |
A |
G |
14: 20,470,830 (GRCm39) |
Y472H |
probably damaging |
Het |
| Cfap77 |
T |
A |
2: 28,852,662 (GRCm39) |
K203N |
probably damaging |
Het |
| Cldn14 |
T |
C |
16: 93,716,192 (GRCm39) |
K218R |
probably damaging |
Het |
| Derl1 |
C |
A |
15: 57,739,007 (GRCm39) |
|
probably benign |
Het |
| Dixdc1 |
G |
A |
9: 50,622,259 (GRCm39) |
A25V |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,181,610 (GRCm39) |
H1651L |
probably benign |
Het |
| Dock6 |
A |
G |
9: 21,750,496 (GRCm39) |
F473L |
possibly damaging |
Het |
| Dzip3 |
T |
C |
16: 48,747,921 (GRCm39) |
H1163R |
probably damaging |
Het |
| Efcab9 |
T |
C |
11: 32,473,689 (GRCm39) |
D35G |
probably benign |
Het |
| Evpl |
T |
C |
11: 116,111,678 (GRCm39) |
D2004G |
probably damaging |
Het |
| Faiml |
A |
G |
9: 99,114,527 (GRCm39) |
C121R |
probably damaging |
Het |
| Fastkd3 |
T |
C |
13: 68,732,987 (GRCm39) |
V436A |
probably benign |
Het |
| Fbxl5 |
A |
G |
5: 43,908,222 (GRCm39) |
Y660H |
probably damaging |
Het |
| Glt8d1 |
T |
C |
14: 30,728,617 (GRCm39) |
V15A |
probably benign |
Het |
| Gpr25 |
A |
C |
1: 136,187,623 (GRCm39) |
I330S |
possibly damaging |
Het |
| Hdac5 |
A |
T |
11: 102,096,436 (GRCm39) |
V257E |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 102,980,750 (GRCm39) |
S1462C |
probably damaging |
Het |
| Mgat3 |
A |
G |
15: 80,096,055 (GRCm39) |
D294G |
probably benign |
Het |
| Mylk2 |
A |
G |
2: 152,761,274 (GRCm39) |
N459S |
probably benign |
Het |
| Myo3b |
A |
C |
2: 70,086,927 (GRCm39) |
|
probably benign |
Het |
| Naip6 |
T |
C |
13: 100,436,961 (GRCm39) |
T521A |
probably benign |
Het |
| Nfxl1 |
C |
T |
5: 72,686,378 (GRCm39) |
A608T |
possibly damaging |
Het |
| Nmd3 |
A |
G |
3: 69,631,732 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
C |
T |
13: 49,831,868 (GRCm39) |
|
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,668,051 (GRCm39) |
M34K |
probably damaging |
Het |
| Or8b12i |
C |
A |
9: 20,082,061 (GRCm39) |
G269W |
probably benign |
Het |
| Or8b42 |
T |
A |
9: 38,342,352 (GRCm39) |
M258K |
possibly damaging |
Het |
| Or8g34 |
G |
A |
9: 39,373,226 (GRCm39) |
M166I |
probably benign |
Het |
| Pcdhgb2 |
T |
C |
18: 37,824,566 (GRCm39) |
F519S |
probably damaging |
Het |
| Phf11c |
A |
G |
14: 59,618,933 (GRCm39) |
V284A |
probably benign |
Het |
| Rasl11a |
G |
T |
5: 146,784,113 (GRCm39) |
C186F |
probably benign |
Het |
| Rps18-ps3 |
T |
C |
8: 107,989,469 (GRCm39) |
|
noncoding transcript |
Het |
| Rusc1 |
A |
G |
3: 88,999,030 (GRCm39) |
S251P |
possibly damaging |
Het |
| Rxfp3 |
T |
C |
15: 11,037,303 (GRCm39) |
E23G |
probably benign |
Het |
| Senp6 |
G |
A |
9: 80,051,124 (GRCm39) |
A1134T |
probably benign |
Het |
| Slc22a4 |
A |
G |
11: 53,898,615 (GRCm39) |
V159A |
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,850,907 (GRCm39) |
N407S |
probably benign |
Het |
| Ssc4d |
T |
C |
5: 135,994,578 (GRCm39) |
T51A |
possibly damaging |
Het |
| Stip1 |
C |
T |
19: 7,013,016 (GRCm39) |
A23T |
probably benign |
Het |
| Tecta |
A |
T |
9: 42,289,290 (GRCm39) |
M425K |
possibly damaging |
Het |
| Tmed4 |
T |
C |
11: 6,224,151 (GRCm39) |
H115R |
probably benign |
Het |
| Tmem255b |
T |
A |
8: 13,501,048 (GRCm39) |
L74H |
probably damaging |
Het |
| Trav6n-5 |
A |
T |
14: 53,342,741 (GRCm39) |
H93L |
possibly damaging |
Het |
| Tsen54 |
T |
A |
11: 115,710,990 (GRCm39) |
D187E |
probably benign |
Het |
| Ttc39d |
A |
G |
17: 80,524,982 (GRCm39) |
Y547C |
probably damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,656,089 (GRCm39) |
N775S |
probably damaging |
Het |
| Vps13a |
G |
T |
19: 16,642,101 (GRCm39) |
N2175K |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,167,717 (GRCm39) |
|
probably benign |
Het |
| Zfp180 |
A |
T |
7: 23,804,928 (GRCm39) |
Q449L |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCCAGCATTGTCCTACTAGC -3'
(R):5'- AGCCACTCATCAGCTTCCAG -3'
Sequencing Primer
(F):5'- TAGCCTGACATTCCAACAGAGGTG -3'
(R):5'- ACTCATCAGCTTCCAGGGCAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation