Incidental Mutation 'R3411:Ccdc150'
| ID |
267687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc150
|
| Ensembl Gene |
ENSMUSG00000025983 |
| Gene Name |
coiled-coil domain containing 150 |
| Synonyms |
4930511H11Rik |
| MMRRC Submission |
040629-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R3411 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
54250683-54368727 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54356773 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 805
(D805G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027128]
[ENSMUST00000160472]
|
| AlphaFold |
Q8CDI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027128
AA Change: D805G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000027128
Gene: ENSMUSG00000025983
AA Change: D805G
| 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 |
noncoding transcript
Transcript: ENSMUST00000159682
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160472
|
| SMART Domains |
Protein: ENSMUSP00000125195
Gene: ENSMUSG00000025983
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163072
|
| Meta Mutation Damage Score |
0.0803 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
T |
12: 81,419,822 (GRCm38) |
V675D |
possibly damaging |
Het |
| Adamts16 |
T |
C |
13: 70,753,226 (GRCm38) |
T911A |
probably benign |
Het |
| Adgra1 |
T |
C |
7: 139,847,703 (GRCm38) |
F62S |
possibly damaging |
Het |
| Adgra3 |
A |
G |
5: 50,001,930 (GRCm38) |
V326A |
probably damaging |
Het |
| Aff1 |
T |
A |
5: 103,754,706 (GRCm38) |
M1K |
probably null |
Het |
| AI429214 |
C |
T |
8: 36,993,917 (GRCm38) |
S73L |
probably benign |
Het |
| Apc |
C |
A |
18: 34,269,259 (GRCm38) |
|
probably benign |
Het |
| Apcs |
T |
C |
1: 172,894,563 (GRCm38) |
Y72C |
probably damaging |
Het |
| Arid4a |
T |
C |
12: 71,061,525 (GRCm38) |
|
probably benign |
Het |
| Armcx4 |
C |
A |
X: 134,691,025 (GRCm38) |
Q561K |
probably benign |
Het |
| Atp5o |
C |
T |
16: 91,928,906 (GRCm38) |
R64H |
probably damaging |
Het |
| Bank1 |
G |
A |
3: 136,247,773 (GRCm38) |
|
probably benign |
Het |
| Ccdc88a |
T |
A |
11: 29,486,006 (GRCm38) |
C10S |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,269,817 (GRCm38) |
M3076K |
possibly damaging |
Het |
| Dnpep |
A |
G |
1: 75,316,626 (GRCm38) |
V33A |
probably damaging |
Het |
| Egfem1 |
C |
T |
3: 29,583,021 (GRCm38) |
T202I |
probably damaging |
Het |
| Fam120b |
T |
A |
17: 15,431,635 (GRCm38) |
|
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,963,179 (GRCm38) |
T1263A |
possibly damaging |
Het |
| Gm6802 |
C |
A |
12: 19,490,620 (GRCm38) |
|
noncoding transcript |
Het |
| Golga2 |
C |
A |
2: 32,302,942 (GRCm38) |
A424E |
probably damaging |
Het |
| Gpat2 |
G |
A |
2: 127,428,291 (GRCm38) |
V75M |
probably damaging |
Het |
| Grik5 |
T |
C |
7: 25,062,972 (GRCm38) |
D198G |
probably benign |
Het |
| Hcrtr2 |
A |
G |
9: 76,233,008 (GRCm38) |
F333L |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,266,524 (GRCm38) |
|
probably null |
Het |
| Htr1b |
A |
C |
9: 81,632,041 (GRCm38) |
V171G |
probably benign |
Het |
| Kalrn |
G |
T |
16: 34,212,272 (GRCm38) |
D1117E |
probably benign |
Het |
| Kcp |
T |
C |
6: 29,482,846 (GRCm38) |
N1408S |
possibly damaging |
Het |
| Klhl7 |
G |
T |
5: 24,138,321 (GRCm38) |
V212L |
probably damaging |
Het |
| Klra17 |
T |
A |
6: 129,874,846 (GRCm38) |
N21I |
probably damaging |
Het |
| Lrrc8d |
A |
T |
5: 105,826,706 (GRCm38) |
|
noncoding transcript |
Het |
| Mast2 |
C |
G |
4: 116,310,910 (GRCm38) |
E881Q |
possibly damaging |
Het |
| Mcm6 |
T |
C |
1: 128,351,585 (GRCm38) |
T155A |
probably benign |
Het |
| Mslnl |
T |
C |
17: 25,744,517 (GRCm38) |
F326L |
probably benign |
Het |
| Nlrp4c |
A |
G |
7: 6,092,570 (GRCm38) |
K816E |
possibly damaging |
Het |
| Olfr1047 |
T |
C |
2: 86,228,642 (GRCm38) |
S110G |
probably benign |
Het |
| Olfr1453 |
G |
C |
19: 13,028,047 (GRCm38) |
A94G |
probably benign |
Het |
| Olfr1510 |
T |
A |
14: 52,410,361 (GRCm38) |
R170S |
possibly damaging |
Het |
| Olfr494 |
A |
T |
7: 108,368,344 (GRCm38) |
I285F |
possibly damaging |
Het |
| Otoa |
A |
G |
7: 121,122,043 (GRCm38) |
Q427R |
probably damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,335,892 (GRCm38) |
E622G |
probably damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,345,413 (GRCm38) |
Y59H |
probably damaging |
Het |
| Psmc3 |
A |
C |
2: 91,055,918 (GRCm38) |
D159A |
probably damaging |
Het |
| Ripk4 |
T |
C |
16: 97,743,957 (GRCm38) |
T497A |
probably benign |
Het |
| Rpn2 |
C |
A |
2: 157,290,652 (GRCm38) |
A108E |
possibly damaging |
Het |
| Serpina3n |
A |
G |
12: 104,411,277 (GRCm38) |
E263G |
possibly damaging |
Het |
| Six4 |
A |
G |
12: 73,112,883 (GRCm38) |
F101S |
probably damaging |
Het |
| Slc16a4 |
G |
A |
3: 107,300,872 (GRCm38) |
E233K |
probably benign |
Het |
| Smu1 |
T |
C |
4: 40,752,008 (GRCm38) |
T183A |
probably benign |
Het |
| Sptb |
T |
G |
12: 76,610,815 (GRCm38) |
K1311Q |
possibly damaging |
Het |
| Styxl1 |
T |
C |
5: 135,765,764 (GRCm38) |
Y83C |
probably damaging |
Het |
| Sypl2 |
C |
T |
3: 108,216,729 (GRCm38) |
V166I |
possibly damaging |
Het |
| Tal2 |
A |
G |
4: 53,785,843 (GRCm38) |
N8S |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,852,530 (GRCm38) |
Y1314H |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,942,405 (GRCm38) |
N2415K |
possibly damaging |
Het |
| Usp53 |
T |
C |
3: 122,949,858 (GRCm38) |
|
probably null |
Het |
| Vmn2r65 |
T |
C |
7: 84,946,688 (GRCm38) |
I263V |
probably benign |
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 |
|
IGL03014:Ccdc150
|
UTSW |
1 |
54,290,702 (GRCm38) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- GGAGTAAAGACTGGCCTACTG -3'
(R):5'- ATGCTCCAGCCAGCTATTAC -3'
Sequencing Primer
(F):5'- TACTGACAGCCCTGGACTCATG -3'
(R):5'- ATGCTTTCAGTGACCGAGAG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation