Incidental Mutation 'IGL03014:Ccdc150'
| ID |
453292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc150
|
| Ensembl Gene |
ENSMUSG00000025983 |
| Gene Name |
coiled-coil domain containing 150 |
| Synonyms |
4930511H11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL03014 (G1)
|
| Quality Score |
198 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
54250683-54368727 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 54290702 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 395
(V395F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027128]
[ENSMUST00000160472]
|
| AlphaFold |
Q8CDI7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027128
AA Change: V395F
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027128
Gene: ENSMUSG00000025983
AA Change: V395F
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
160 |
250 |
N/A |
INTRINSIC |
|
coiled coil region
|
288 |
314 |
N/A |
INTRINSIC |
|
coiled coil region
|
418 |
676 |
N/A |
INTRINSIC |
|
coiled coil region
|
727 |
952 |
N/A |
INTRINSIC |
|
coiled coil region
|
985 |
1048 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160472
AA Change: V395F
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125195
Gene: ENSMUSG00000025983
AA Change: V395F
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
160 |
250 |
N/A |
INTRINSIC |
|
coiled coil region
|
288 |
314 |
N/A |
INTRINSIC |
|
coiled coil region
|
418 |
551 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
96% (51/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930452B06Rik |
A |
G |
14: 8,431,608 (GRCm38) |
*675Q |
probably null |
Het |
| 4933416I08Rik |
TCC |
TCCC |
X: 53,690,895 (GRCm38) |
|
noncoding transcript |
Het |
| AW112010 |
A |
G |
19: 11,048,092 (GRCm38) |
|
noncoding transcript |
Het |
| BC003331 |
C |
A |
1: 150,383,053 (GRCm38) |
|
probably benign |
Het |
| Ccdc134 |
T |
C |
15: 82,130,105 (GRCm38) |
L13P |
probably damaging |
Het |
| Cdh22 |
G |
T |
2: 165,112,411 (GRCm38) |
S730* |
probably null |
Het |
| Chrng |
G |
T |
1: 87,211,037 (GRCm38) |
|
probably null |
Het |
| Cilp |
TGGG |
TGG |
9: 65,280,130 (GRCm38) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,237,086 (GRCm38) |
|
probably null |
Het |
| Csmd2 |
G |
T |
4: 128,296,429 (GRCm38) |
M387I |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,565,525 (GRCm38) |
|
probably benign |
Het |
| D130043K22Rik |
C |
T |
13: 24,858,092 (GRCm38) |
P335S |
possibly damaging |
Het |
| Dctn1 |
A |
G |
6: 83,197,369 (GRCm38) |
|
probably benign |
Het |
| Dock11 |
G |
T |
X: 36,047,046 (GRCm38) |
|
probably benign |
Het |
| Dsn1 |
A |
T |
2: 156,996,819 (GRCm38) |
M292K |
possibly damaging |
Het |
| Efemp1 |
A |
G |
11: 28,926,218 (GRCm38) |
Y461C |
probably damaging |
Het |
| Efl1 |
A |
G |
7: 82,651,886 (GRCm38) |
T33A |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,265,919 (GRCm38) |
|
probably benign |
Het |
| Fcna |
G |
C |
2: 25,630,681 (GRCm38) |
|
probably benign |
Het |
| Hecw1 |
T |
A |
13: 14,245,808 (GRCm38) |
Y1010F |
probably damaging |
Het |
| Igha |
A |
G |
12: 113,259,093 (GRCm38) |
V236A |
unknown |
Het |
| Igsf9b |
T |
C |
9: 27,322,636 (GRCm38) |
M377T |
probably benign |
Het |
| Itga9 |
A |
G |
9: 118,628,144 (GRCm38) |
T108A |
probably benign |
Het |
| Kcna3 |
A |
T |
3: 107,037,890 (GRCm38) |
M490L |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,539,967 (GRCm38) |
Y886F |
possibly damaging |
Het |
| Lcorl |
T |
C |
5: 45,774,029 (GRCm38) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 84,702,671 (GRCm38) |
P3L |
possibly damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Olfr33 |
A |
T |
7: 102,713,546 (GRCm38) |
V289E |
probably null |
Het |
| Olfr43 |
G |
A |
11: 74,206,827 (GRCm38) |
L130F |
probably damaging |
Het |
| Pex10 |
A |
G |
4: 155,070,619 (GRCm38) |
|
probably benign |
Het |
| Plcl2 |
G |
A |
17: 50,611,001 (GRCm38) |
V943M |
possibly damaging |
Het |
| Prkcd |
T |
A |
14: 30,607,337 (GRCm38) |
T164S |
probably damaging |
Het |
| Ptprn2 |
T |
A |
12: 117,248,688 (GRCm38) |
L910Q |
probably damaging |
Het |
| Rab1b |
T |
C |
19: 5,104,895 (GRCm38) |
I41V |
probably benign |
Het |
| Scpep1 |
T |
A |
11: 88,933,445 (GRCm38) |
|
probably null |
Het |
| Sergef |
T |
C |
7: 46,590,756 (GRCm38) |
T288A |
probably damaging |
Het |
| Setdb1 |
G |
A |
3: 95,341,415 (GRCm38) |
P397S |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,139,411 (GRCm38) |
D230E |
probably damaging |
Het |
| Sin3a |
C |
A |
9: 57,095,255 (GRCm38) |
|
probably benign |
Het |
| Smad5 |
T |
C |
13: 56,735,941 (GRCm38) |
L380P |
probably damaging |
Het |
| Speer4c |
A |
C |
5: 15,714,216 (GRCm38) |
|
probably benign |
Het |
| Stard9 |
A |
T |
2: 120,702,194 (GRCm38) |
|
probably benign |
Het |
| Tek |
A |
G |
4: 94,827,263 (GRCm38) |
D346G |
probably benign |
Het |
| Trav7d-4 |
T |
A |
14: 52,769,896 (GRCm38) |
W12R |
unknown |
Het |
| Trmt1l |
G |
T |
1: 151,457,930 (GRCm38) |
W728L |
probably damaging |
Het |
| Ubash3a |
C |
A |
17: 31,239,224 (GRCm38) |
T559K |
probably damaging |
Het |
| Vmn1r72 |
T |
A |
7: 11,669,784 (GRCm38) |
I246F |
possibly damaging |
Het |
| Zfp618 |
A |
T |
4: 63,080,088 (GRCm38) |
Q109L |
probably damaging |
Het |
|
| Other mutations in Ccdc150 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00712:Ccdc150
|
APN |
1 |
54,272,550 (GRCm38) |
splice site |
probably benign |
|
|
IGL00819:Ccdc150
|
APN |
1 |
54,263,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01973:Ccdc150
|
APN |
1 |
54,300,488 (GRCm38) |
splice site |
probably null |
|
|
IGL02352:Ccdc150
|
APN |
1 |
54,272,521 (GRCm38) |
missense |
probably benign |
0.25 |
|
IGL02359:Ccdc150
|
APN |
1 |
54,272,521 (GRCm38) |
missense |
probably benign |
0.25 |
|
IGL02620:Ccdc150
|
APN |
1 |
54,263,545 (GRCm38) |
nonsense |
probably null |
|
|
IGL02673:Ccdc150
|
APN |
1 |
54,328,990 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL03148:Ccdc150
|
APN |
1 |
54,278,715 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL03185:Ccdc150
|
APN |
1 |
54,300,323 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0066:Ccdc150
|
UTSW |
1 |
54,356,691 (GRCm38) |
missense |
probably benign |
|
|
R0066:Ccdc150
|
UTSW |
1 |
54,356,691 (GRCm38) |
missense |
probably benign |
|
|
R0217:Ccdc150
|
UTSW |
1 |
54,300,430 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R0582:Ccdc150
|
UTSW |
1 |
54,329,511 (GRCm38) |
missense |
probably benign |
|
|
R0687:Ccdc150
|
UTSW |
1 |
54,285,631 (GRCm38) |
splice site |
probably null |
|
|
R0790:Ccdc150
|
UTSW |
1 |
54,277,776 (GRCm38) |
splice site |
probably benign |
|
|
R1146:Ccdc150
|
UTSW |
1 |
54,364,971 (GRCm38) |
splice site |
probably benign |
|
|
R1288:Ccdc150
|
UTSW |
1 |
54,364,458 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1763:Ccdc150
|
UTSW |
1 |
54,354,636 (GRCm38) |
missense |
probably benign |
0.42 |
|
R1855:Ccdc150
|
UTSW |
1 |
54,367,910 (GRCm38) |
intron |
probably benign |
|
|
R1957:Ccdc150
|
UTSW |
1 |
54,263,909 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2180:Ccdc150
|
UTSW |
1 |
54,272,547 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2226:Ccdc150
|
UTSW |
1 |
54,364,925 (GRCm38) |
missense |
probably null |
0.11 |
|
R3054:Ccdc150
|
UTSW |
1 |
54,288,842 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R3055:Ccdc150
|
UTSW |
1 |
54,288,842 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R3056:Ccdc150
|
UTSW |
1 |
54,288,842 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R3409:Ccdc150
|
UTSW |
1 |
54,356,773 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3411:Ccdc150
|
UTSW |
1 |
54,356,773 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3812:Ccdc150
|
UTSW |
1 |
54,368,310 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4031:Ccdc150
|
UTSW |
1 |
54,278,811 (GRCm38) |
missense |
probably benign |
0.31 |
|
R4356:Ccdc150
|
UTSW |
1 |
54,353,054 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4617:Ccdc150
|
UTSW |
1 |
54,355,754 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4757:Ccdc150
|
UTSW |
1 |
54,278,715 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R4957:Ccdc150
|
UTSW |
1 |
54,364,868 (GRCm38) |
intron |
probably benign |
|
|
R5028:Ccdc150
|
UTSW |
1 |
54,263,477 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5512:Ccdc150
|
UTSW |
1 |
54,354,647 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5757:Ccdc150
|
UTSW |
1 |
54,263,620 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5943:Ccdc150
|
UTSW |
1 |
54,300,367 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5948:Ccdc150
|
UTSW |
1 |
54,277,714 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R6033:Ccdc150
|
UTSW |
1 |
54,285,628 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6033:Ccdc150
|
UTSW |
1 |
54,285,628 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6065:Ccdc150
|
UTSW |
1 |
54,263,599 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6390:Ccdc150
|
UTSW |
1 |
54,368,017 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6399:Ccdc150
|
UTSW |
1 |
54,263,957 (GRCm38) |
splice site |
probably null |
|
|
R6988:Ccdc150
|
UTSW |
1 |
54,355,709 (GRCm38) |
nonsense |
probably null |
|
|
R7248:Ccdc150
|
UTSW |
1 |
54,304,898 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7319:Ccdc150
|
UTSW |
1 |
54,263,337 (GRCm38) |
splice site |
probably null |
|
|
R7322:Ccdc150
|
UTSW |
1 |
54,259,966 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7366:Ccdc150
|
UTSW |
1 |
54,300,382 (GRCm38) |
nonsense |
probably null |
|
|
R7647:Ccdc150
|
UTSW |
1 |
54,356,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7981:Ccdc150
|
UTSW |
1 |
54,368,392 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8002:Ccdc150
|
UTSW |
1 |
54,272,497 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8201:Ccdc150
|
UTSW |
1 |
54,329,487 (GRCm38) |
missense |
probably benign |
0.10 |
|
R8688:Ccdc150
|
UTSW |
1 |
54,367,973 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8719:Ccdc150
|
UTSW |
1 |
54,263,509 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8963:Ccdc150
|
UTSW |
1 |
54,272,482 (GRCm38) |
missense |
probably benign |
0.14 |
|
R9178:Ccdc150
|
UTSW |
1 |
54,272,485 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9200:Ccdc150
|
UTSW |
1 |
54,260,038 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9332:Ccdc150
|
UTSW |
1 |
54,277,751 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9367:Ccdc150
|
UTSW |
1 |
54,285,601 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9416:Ccdc150
|
UTSW |
1 |
54,278,831 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9430:Ccdc150
|
UTSW |
1 |
54,281,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9576:Ccdc150
|
UTSW |
1 |
54,368,385 (GRCm38) |
nonsense |
probably null |
|
|
R9747:Ccdc150
|
UTSW |
1 |
54,259,948 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTTCACAAAATATGTTCAAGGCTGG -3'
(R):5'- TGAACAAAGGTGCACACGTG -3'
Sequencing Primer
(F):5'- TCAAGGCTGGTATATAATACTTCCTC -3'
(R):5'- TCATTCTGCACAGCTTGG -3'
|
| Posted On |
2017-02-01 |
Incidental Mutation