Incidental Mutation 'R6690:Coro6'
ID |
530388 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Coro6
|
Ensembl Gene |
ENSMUSG00000020836 |
Gene Name |
coronin 6 |
Synonyms |
clipin E |
MMRRC Submission |
044808-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6690 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
77353237-77361310 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 77356606 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 105
(T105A)
|
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 benign
Transcript: ENSMUST00000021190
AA Change: T105A
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000021190 Gene: ENSMUSG00000020836 AA Change: T105A
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: T105A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000056862 Gene: ENSMUSG00000020836 AA Change: T105A
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
AA Change: T105A
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000078703 Gene: ENSMUSG00000020836 AA Change: T105A
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
AA Change: T105A
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000099551 Gene: ENSMUSG00000020836 AA Change: T105A
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
AA Change: T105A
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000104028 Gene: ENSMUSG00000020836 AA Change: T105A
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: ENSMUST00000130255
|
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 |
|
Meta Mutation Damage Score |
0.2108 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
T |
2: 69,115,062 (GRCm39) |
G628D |
probably damaging |
Het |
Ahnak |
G |
T |
19: 8,986,945 (GRCm39) |
G2743V |
probably benign |
Het |
Akr1c14 |
A |
T |
13: 4,113,713 (GRCm39) |
T82S |
possibly damaging |
Het |
Ccdc7b |
A |
G |
8: 129,904,700 (GRCm39) |
T113A |
probably benign |
Het |
Cep152 |
A |
T |
2: 125,406,290 (GRCm39) |
L1414Q |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,464,694 (GRCm39) |
E658G |
possibly damaging |
Het |
Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
Cux1 |
A |
G |
5: 136,368,971 (GRCm39) |
I232T |
probably damaging |
Het |
Dmrt1 |
A |
G |
19: 25,523,449 (GRCm39) |
T267A |
probably benign |
Het |
Fam149a |
G |
T |
8: 45,802,071 (GRCm39) |
A387E |
probably damaging |
Het |
Fat4 |
G |
A |
3: 39,037,688 (GRCm39) |
G3780D |
probably damaging |
Het |
Igf2r |
A |
T |
17: 12,910,824 (GRCm39) |
L1998* |
probably null |
Het |
Iqcf6 |
C |
T |
9: 106,504,501 (GRCm39) |
T55I |
possibly damaging |
Het |
Mterf3 |
G |
A |
13: 67,065,110 (GRCm39) |
L264F |
probably damaging |
Het |
Or10k2 |
G |
T |
8: 84,267,904 (GRCm39) |
V44L |
probably benign |
Het |
Or8g32 |
A |
G |
9: 39,305,845 (GRCm39) |
I253V |
probably benign |
Het |
Pcdhgb7 |
A |
T |
18: 37,886,050 (GRCm39) |
I407F |
probably benign |
Het |
Pip4k2b |
T |
C |
11: 97,620,393 (GRCm39) |
D114G |
probably damaging |
Het |
Plbd1 |
G |
T |
6: 136,612,598 (GRCm39) |
N198K |
probably damaging |
Het |
Prkcb |
T |
C |
7: 121,888,737 (GRCm39) |
I57T |
probably damaging |
Het |
Ralgapa1 |
C |
T |
12: 55,769,558 (GRCm39) |
|
probably null |
Het |
Slc26a8 |
A |
G |
17: 28,863,629 (GRCm39) |
I710T |
possibly damaging |
Het |
Smc2 |
A |
T |
4: 52,449,375 (GRCm39) |
I179L |
probably benign |
Het |
Tmub2 |
C |
T |
11: 102,178,345 (GRCm39) |
H83Y |
probably damaging |
Het |
Trip11 |
C |
A |
12: 101,851,710 (GRCm39) |
D785Y |
possibly damaging |
Het |
Vill |
A |
G |
9: 118,890,975 (GRCm39) |
T194A |
probably benign |
Het |
Vmn2r59 |
T |
C |
7: 41,695,890 (GRCm39) |
D174G |
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 |
R6619:Coro6
|
UTSW |
11 |
77,357,030 (GRCm39) |
missense |
possibly damaging |
0.85 |
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'- GGTAAACAAATCTACTGCCCACTTC -3'
(R):5'- AGGGCCCCAAGTTATCCATG -3'
Sequencing Primer
(F):5'- TACTTAACAAGTGCTGGGCC -3'
(R):5'- CCATGGTTATAATTAGTTCTAGGCAG -3'
|
Posted On |
2018-08-01 |