Incidental Mutation 'I0000:Ccdc61'
| ID |
7849 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc61
|
| Ensembl Gene |
ENSMUSG00000074358 |
| Gene Name |
coiled-coil domain containing 61 |
| Synonyms |
C530028I08Rik, LOC232933 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.211)
|
| Stock # |
I0000 (G3)
of strain
635
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18624808-18644340 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18637474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 51
(I51T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098780]
[ENSMUST00000135467]
[ENSMUST00000139077]
[ENSMUST00000150065]
|
| AlphaFold |
Q3UJV1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098780
AA Change: I51T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096377
Gene: ENSMUSG00000074358
AA Change: I51T
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
173 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
242 |
N/A |
INTRINSIC |
|
coiled coil region
|
243 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
332 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
447 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135467
AA Change: I51T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139077
AA Change: I51T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150065
AA Change: I51T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6253 |
| Coding Region Coverage |
|
| Validation Efficiency |
67% (62/92) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,376,716 (GRCm39) |
V1933A |
probably damaging |
Het |
| Acsm4 |
T |
A |
7: 119,310,415 (GRCm39) |
F467I |
probably damaging |
Het |
| Ankrd55 |
A |
T |
13: 112,485,259 (GRCm39) |
|
probably benign |
Het |
| Bfsp1 |
T |
C |
2: 143,687,888 (GRCm39) |
Y179C |
probably damaging |
Het |
| Ccdc81 |
A |
G |
7: 89,547,259 (GRCm39) |
L43P |
probably damaging |
Het |
| Ddias |
A |
G |
7: 92,515,848 (GRCm39) |
V15A |
possibly damaging |
Het |
| Dpp6 |
A |
T |
5: 27,603,920 (GRCm39) |
T62S |
probably benign |
Het |
| Ereg |
G |
A |
5: 91,237,068 (GRCm39) |
C129Y |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,888,688 (GRCm39) |
G2745S |
probably damaging |
Het |
| Gzf1 |
C |
T |
2: 148,528,540 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,786,477 (GRCm39) |
|
probably benign |
Het |
| Hsd17b4 |
A |
G |
18: 50,293,295 (GRCm39) |
D278G |
probably benign |
Homo |
| Ifitm3 |
A |
G |
7: 140,590,441 (GRCm39) |
S40P |
possibly damaging |
Het |
| Klf5 |
C |
T |
14: 99,540,911 (GRCm39) |
T307M |
probably damaging |
Homo |
| Lnpep |
A |
T |
17: 17,799,233 (GRCm39) |
C141S |
probably damaging |
Homo |
| Mmp19 |
A |
T |
10: 128,634,329 (GRCm39) |
D362V |
probably benign |
Het |
| Or4a72 |
T |
C |
2: 89,405,497 (GRCm39) |
Y191C |
probably damaging |
Het |
| Pnpla6 |
G |
A |
8: 3,592,322 (GRCm39) |
A1222T |
probably benign |
Het |
| Rbm26 |
C |
A |
14: 105,391,003 (GRCm39) |
R161L |
unknown |
Homo |
| Selenon |
G |
A |
4: 134,270,012 (GRCm39) |
|
probably benign |
Het |
| Septin11 |
A |
G |
5: 93,313,118 (GRCm39) |
T322A |
probably benign |
Het |
| Sh3bp4 |
T |
A |
1: 89,065,518 (GRCm39) |
D37E |
probably benign |
Het |
| Tango2 |
G |
A |
16: 18,130,530 (GRCm39) |
R80W |
possibly damaging |
Homo |
| Tjap1 |
C |
T |
17: 46,569,955 (GRCm39) |
C345Y |
probably damaging |
Homo |
| Wdr62 |
T |
C |
7: 29,944,752 (GRCm39) |
D455G |
probably benign |
Het |
| Zbtb48 |
A |
G |
4: 152,104,315 (GRCm39) |
I671T |
probably benign |
Het |
| Zfp318 |
T |
C |
17: 46,710,485 (GRCm39) |
L736P |
probably damaging |
Homo |
|
| Other mutations in Ccdc61 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01933:Ccdc61
|
APN |
7 |
18,626,483 (GRCm39) |
missense |
probably benign |
|
|
IGL02029:Ccdc61
|
APN |
7 |
18,637,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02550:Ccdc61
|
APN |
7 |
18,627,227 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0055:Ccdc61
|
UTSW |
7 |
18,626,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0055:Ccdc61
|
UTSW |
7 |
18,626,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0392:Ccdc61
|
UTSW |
7 |
18,625,027 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0578:Ccdc61
|
UTSW |
7 |
18,637,400 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1740:Ccdc61
|
UTSW |
7 |
18,637,862 (GRCm39) |
splice site |
probably benign |
|
|
R2230:Ccdc61
|
UTSW |
7 |
18,625,032 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5964:Ccdc61
|
UTSW |
7 |
18,634,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6345:Ccdc61
|
UTSW |
7 |
18,643,914 (GRCm39) |
splice site |
probably null |
|
|
R6893:Ccdc61
|
UTSW |
7 |
18,626,488 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7466:Ccdc61
|
UTSW |
7 |
18,625,030 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9224:Ccdc61
|
UTSW |
7 |
18,637,746 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9588:Ccdc61
|
UTSW |
7 |
18,644,266 (GRCm39) |
critical splice donor site |
probably benign |
|
|
| Posted On |
2012-11-05 |
Incidental Mutation