Incidental Mutation 'R5501:Coro6'
| ID |
430626 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coro6
|
| Ensembl Gene |
ENSMUSG00000020836 |
| Gene Name |
coronin 6 |
| Synonyms |
clipin E |
| MMRRC Submission |
043062-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5501 (G1)
|
| Quality Score |
185 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77353237-77361310 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77358622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 227
(F227S)
|
| 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 benign
Transcript: ENSMUST00000021190
|
| SMART Domains |
Protein: ENSMUSP00000021190
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: 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 damaging
Transcript: ENSMUST00000102493
AA Change: F227S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099551
Gene: ENSMUSG00000020836
AA Change: F227S
| 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: F227S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104028
Gene: ENSMUSG00000020836
AA Change: F227S
| 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: 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: 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: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
C |
8: 44,022,941 (GRCm39) |
L183* |
probably null |
Het |
| Alox12e |
G |
T |
11: 70,207,055 (GRCm39) |
Q584K |
probably benign |
Het |
| Atp1a4 |
A |
G |
1: 172,074,399 (GRCm39) |
S285P |
probably damaging |
Het |
| Cdt1 |
C |
T |
8: 123,297,239 (GRCm39) |
R311W |
probably damaging |
Het |
| Col25a1 |
A |
G |
3: 130,389,312 (GRCm39) |
T632A |
probably benign |
Het |
| Diras2 |
C |
T |
13: 52,661,786 (GRCm39) |
V174M |
probably benign |
Het |
| Dop1a |
A |
G |
9: 86,389,783 (GRCm39) |
D569G |
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,167,104 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 84,064,800 (GRCm39) |
V508A |
probably damaging |
Het |
| Edem1 |
T |
C |
6: 108,820,061 (GRCm39) |
|
probably null |
Het |
| Eef2k |
A |
G |
7: 120,488,471 (GRCm39) |
D452G |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,225,565 (GRCm39) |
R1539G |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 38,941,364 (GRCm39) |
S86G |
probably benign |
Het |
| Hpgd |
A |
T |
8: 56,751,391 (GRCm39) |
D73V |
probably benign |
Het |
| Ltb4r1 |
A |
G |
14: 56,005,539 (GRCm39) |
N281D |
probably damaging |
Het |
| Map7 |
T |
C |
10: 20,151,948 (GRCm39) |
S638P |
unknown |
Het |
| Mical1 |
G |
A |
10: 41,362,075 (GRCm39) |
A934T |
probably benign |
Het |
| Micu3 |
C |
A |
8: 40,807,341 (GRCm39) |
|
probably null |
Het |
| Mmp24 |
T |
A |
2: 155,640,056 (GRCm39) |
Y129N |
probably damaging |
Het |
| Mras |
A |
T |
9: 99,293,599 (GRCm39) |
Y14N |
probably damaging |
Het |
| Msmo1 |
A |
T |
8: 65,175,523 (GRCm39) |
I169N |
probably damaging |
Het |
| Mtrr |
G |
T |
13: 68,727,766 (GRCm39) |
T60K |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,230 (GRCm39) |
L180* |
probably null |
Het |
| Or5p6 |
G |
T |
7: 107,631,360 (GRCm39) |
Y63* |
probably null |
Het |
| Or7g30 |
T |
A |
9: 19,352,290 (GRCm39) |
I27N |
possibly damaging |
Het |
| Pam |
A |
T |
1: 97,768,090 (GRCm39) |
C8* |
probably null |
Het |
| Phrf1 |
T |
G |
7: 140,839,834 (GRCm39) |
S1169A |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,792,569 (GRCm39) |
T408A |
probably damaging |
Het |
| Plch1 |
G |
T |
3: 63,615,162 (GRCm39) |
Q778K |
probably damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,719,417 (GRCm39) |
V499A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Ryr3 |
C |
A |
2: 112,492,849 (GRCm39) |
S3736I |
possibly damaging |
Het |
| Serpinb13 |
T |
C |
1: 106,909,915 (GRCm39) |
F11L |
possibly damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Smcp |
A |
G |
3: 92,491,731 (GRCm39) |
C39R |
unknown |
Het |
| Sox9 |
T |
A |
11: 112,674,685 (GRCm39) |
L161Q |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,805,811 (GRCm39) |
|
probably null |
Het |
| Tlr3 |
C |
T |
8: 45,851,851 (GRCm39) |
D349N |
possibly damaging |
Het |
| Tmem131l |
G |
T |
3: 83,833,435 (GRCm39) |
N809K |
probably damaging |
Het |
| Tyk2 |
T |
C |
9: 21,032,908 (GRCm39) |
Y285C |
probably damaging |
Het |
| Usp15 |
T |
A |
10: 123,011,804 (GRCm39) |
N98Y |
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 |
|
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'- GAAGCTGAGTTCTTAGACTCCTTTTC -3'
(R):5'- TGCATGCAGTCACAGCAAAC -3'
Sequencing Primer
(F):5'- GAGTTCTTAGACTCCTTTTCCCCAC -3'
(R):5'- AACCTTCAGCCCTGTCGGAATG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation