Incidental Mutation 'R4031:Ccdc150'
| ID |
313467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc150
|
| Ensembl Gene |
ENSMUSG00000025983 |
| Gene Name |
coiled-coil domain containing 150 |
| Synonyms |
4930511H11Rik |
| MMRRC Submission |
040960-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R4031 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
54289842-54407886 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 54317970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 303
(M303K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027128]
[ENSMUST00000160472]
|
| AlphaFold |
Q8CDI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027128
AA Change: M303K
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000027128
Gene: ENSMUSG00000025983
AA Change: M303K
| 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 benign
Transcript: ENSMUST00000160472
AA Change: M303K
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000125195
Gene: ENSMUSG00000025983
AA Change: M303K
| 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: ENSMUST00000161988
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
95% (52/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
G |
T |
8: 87,244,077 (GRCm39) |
F1025L |
probably damaging |
Het |
| Acss2 |
C |
T |
2: 155,399,130 (GRCm39) |
T477I |
probably damaging |
Het |
| Aplp2 |
G |
A |
9: 31,069,026 (GRCm39) |
P601L |
probably benign |
Het |
| Arl2bp |
T |
C |
8: 95,394,281 (GRCm39) |
I32T |
probably damaging |
Het |
| Avpi1 |
C |
A |
19: 42,113,180 (GRCm39) |
|
probably benign |
Het |
| C030005K15Rik |
T |
C |
10: 97,561,404 (GRCm39) |
Y109C |
unknown |
Het |
| Chrna5 |
T |
C |
9: 54,905,370 (GRCm39) |
W61R |
probably damaging |
Het |
| Copa |
T |
C |
1: 171,935,942 (GRCm39) |
V428A |
probably damaging |
Het |
| Crybb3 |
A |
G |
5: 113,227,735 (GRCm39) |
Y29H |
probably damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,691,980 (GRCm39) |
D89G |
probably damaging |
Het |
| Disp2 |
T |
C |
2: 118,622,361 (GRCm39) |
I1031T |
probably benign |
Het |
| Elf1 |
A |
C |
14: 79,806,723 (GRCm39) |
K161Q |
probably damaging |
Het |
| Fndc1 |
A |
T |
17: 7,988,584 (GRCm39) |
Y1159* |
probably null |
Het |
| Hspa12a |
T |
C |
19: 58,789,289 (GRCm39) |
N449S |
probably benign |
Het |
| Hyal4 |
A |
G |
6: 24,756,223 (GRCm39) |
E147G |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,336,679 (GRCm39) |
I5152T |
probably benign |
Het |
| Ighv9-1 |
C |
T |
12: 114,057,844 (GRCm39) |
A19T |
probably benign |
Het |
| Kcnt1 |
T |
G |
2: 25,806,060 (GRCm39) |
S1216R |
possibly damaging |
Het |
| Kdm5d |
T |
A |
Y: 916,910 (GRCm39) |
V435E |
probably damaging |
Het |
| Klhl30 |
G |
A |
1: 91,288,879 (GRCm39) |
R546H |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,592,860 (GRCm39) |
G3753D |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,275,105 (GRCm39) |
L6303P |
probably damaging |
Het |
| Mblac2 |
T |
C |
13: 81,898,208 (GRCm39) |
S195P |
possibly damaging |
Het |
| Mindy3 |
A |
C |
2: 12,405,894 (GRCm39) |
|
probably null |
Het |
| Neurod1 |
C |
T |
2: 79,284,370 (GRCm39) |
D338N |
probably benign |
Het |
| Polr1e |
A |
T |
4: 45,018,685 (GRCm39) |
E5V |
probably benign |
Het |
| Polr2b |
G |
A |
5: 77,496,252 (GRCm39) |
R1141H |
possibly damaging |
Het |
| Ppp2r2a |
T |
C |
14: 67,266,425 (GRCm39) |
S79G |
probably damaging |
Het |
| Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
| Rap1gds1 |
T |
C |
3: 138,756,353 (GRCm39) |
|
probably benign |
Het |
| Rsph10b |
A |
G |
5: 143,922,486 (GRCm39) |
|
probably null |
Het |
| Slc26a10 |
A |
G |
10: 127,013,871 (GRCm39) |
V297A |
possibly damaging |
Het |
| Slc26a5 |
T |
C |
5: 22,052,189 (GRCm39) |
K47E |
probably damaging |
Het |
| Slurp1 |
T |
C |
15: 74,599,336 (GRCm39) |
E58G |
probably damaging |
Het |
| Spo11 |
T |
A |
2: 172,828,625 (GRCm39) |
|
probably benign |
Het |
| Tm9sf4 |
T |
C |
2: 153,040,264 (GRCm39) |
|
probably benign |
Het |
| Trak1 |
T |
C |
9: 121,280,736 (GRCm39) |
I272T |
probably damaging |
Het |
| Tshz1 |
T |
C |
18: 84,032,954 (GRCm39) |
K485E |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,039,018 (GRCm39) |
S671T |
possibly damaging |
Het |
| Usp43 |
G |
T |
11: 67,804,659 (GRCm39) |
A186D |
probably damaging |
Het |
| Vmn2r107 |
G |
A |
17: 20,595,483 (GRCm39) |
V679I |
probably benign |
Het |
| Vsig10l |
C |
T |
7: 43,114,798 (GRCm39) |
A333V |
probably damaging |
Het |
| Vwa3a |
G |
A |
7: 120,367,455 (GRCm39) |
|
probably null |
Het |
| Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,928,029 (GRCm39) |
T1141A |
probably damaging |
Het |
| Zfp236 |
T |
A |
18: 82,642,590 (GRCm39) |
E1052V |
probably damaging |
Het |
| Zfp317 |
A |
T |
9: 19,558,008 (GRCm39) |
H163L |
possibly damaging |
Het |
| Zfp975 |
G |
A |
7: 42,312,377 (GRCm39) |
Q79* |
probably null |
Het |
|
| Other mutations in Ccdc150 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00712:Ccdc150
|
APN |
1 |
54,311,709 (GRCm39) |
splice site |
probably benign |
|
|
IGL00819:Ccdc150
|
APN |
1 |
54,302,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01973:Ccdc150
|
APN |
1 |
54,339,647 (GRCm39) |
splice site |
probably null |
|
|
IGL02352:Ccdc150
|
APN |
1 |
54,311,680 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02359:Ccdc150
|
APN |
1 |
54,311,680 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02620:Ccdc150
|
APN |
1 |
54,302,704 (GRCm39) |
nonsense |
probably null |
|
|
IGL02673:Ccdc150
|
APN |
1 |
54,368,149 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03148:Ccdc150
|
APN |
1 |
54,317,874 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03185:Ccdc150
|
APN |
1 |
54,339,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03014:Ccdc150
|
UTSW |
1 |
54,329,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0066:Ccdc150
|
UTSW |
1 |
54,395,850 (GRCm39) |
missense |
probably benign |
|
|
R0066:Ccdc150
|
UTSW |
1 |
54,395,850 (GRCm39) |
missense |
probably benign |
|
|
R0217:Ccdc150
|
UTSW |
1 |
54,339,589 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0582:Ccdc150
|
UTSW |
1 |
54,368,670 (GRCm39) |
missense |
probably benign |
|
|
R0687:Ccdc150
|
UTSW |
1 |
54,324,790 (GRCm39) |
splice site |
probably null |
|
|
R0790:Ccdc150
|
UTSW |
1 |
54,316,935 (GRCm39) |
splice site |
probably benign |
|
|
R1146:Ccdc150
|
UTSW |
1 |
54,404,130 (GRCm39) |
splice site |
probably benign |
|
|
R1288:Ccdc150
|
UTSW |
1 |
54,403,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Ccdc150
|
UTSW |
1 |
54,393,795 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1855:Ccdc150
|
UTSW |
1 |
54,407,069 (GRCm39) |
intron |
probably benign |
|
|
R1957:Ccdc150
|
UTSW |
1 |
54,303,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2180:Ccdc150
|
UTSW |
1 |
54,311,706 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2226:Ccdc150
|
UTSW |
1 |
54,404,084 (GRCm39) |
missense |
probably null |
0.11 |
|
R3054:Ccdc150
|
UTSW |
1 |
54,328,001 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R3055:Ccdc150
|
UTSW |
1 |
54,328,001 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R3056:Ccdc150
|
UTSW |
1 |
54,328,001 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R3409:Ccdc150
|
UTSW |
1 |
54,395,932 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3411:Ccdc150
|
UTSW |
1 |
54,395,932 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3812:Ccdc150
|
UTSW |
1 |
54,407,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4356:Ccdc150
|
UTSW |
1 |
54,392,213 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4617:Ccdc150
|
UTSW |
1 |
54,394,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4757:Ccdc150
|
UTSW |
1 |
54,317,874 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4957:Ccdc150
|
UTSW |
1 |
54,404,027 (GRCm39) |
intron |
probably benign |
|
|
R5028:Ccdc150
|
UTSW |
1 |
54,302,636 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5512:Ccdc150
|
UTSW |
1 |
54,393,806 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5757:Ccdc150
|
UTSW |
1 |
54,302,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5943:Ccdc150
|
UTSW |
1 |
54,339,526 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5948:Ccdc150
|
UTSW |
1 |
54,316,873 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6033:Ccdc150
|
UTSW |
1 |
54,324,787 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6033:Ccdc150
|
UTSW |
1 |
54,324,787 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6065:Ccdc150
|
UTSW |
1 |
54,302,758 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6390:Ccdc150
|
UTSW |
1 |
54,407,176 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6399:Ccdc150
|
UTSW |
1 |
54,303,116 (GRCm39) |
splice site |
probably null |
|
|
R6988:Ccdc150
|
UTSW |
1 |
54,394,868 (GRCm39) |
nonsense |
probably null |
|
|
R7248:Ccdc150
|
UTSW |
1 |
54,344,057 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7319:Ccdc150
|
UTSW |
1 |
54,302,496 (GRCm39) |
splice site |
probably null |
|
|
R7322:Ccdc150
|
UTSW |
1 |
54,299,125 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7366:Ccdc150
|
UTSW |
1 |
54,339,541 (GRCm39) |
nonsense |
probably null |
|
|
R7647:Ccdc150
|
UTSW |
1 |
54,395,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7981:Ccdc150
|
UTSW |
1 |
54,407,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8002:Ccdc150
|
UTSW |
1 |
54,311,656 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8201:Ccdc150
|
UTSW |
1 |
54,368,646 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8688:Ccdc150
|
UTSW |
1 |
54,407,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8719:Ccdc150
|
UTSW |
1 |
54,302,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8963:Ccdc150
|
UTSW |
1 |
54,311,641 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9178:Ccdc150
|
UTSW |
1 |
54,311,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9200:Ccdc150
|
UTSW |
1 |
54,299,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9332:Ccdc150
|
UTSW |
1 |
54,316,910 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9367:Ccdc150
|
UTSW |
1 |
54,324,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9416:Ccdc150
|
UTSW |
1 |
54,317,990 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9430:Ccdc150
|
UTSW |
1 |
54,320,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9576:Ccdc150
|
UTSW |
1 |
54,407,544 (GRCm39) |
nonsense |
probably null |
|
|
R9747:Ccdc150
|
UTSW |
1 |
54,299,107 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTTCCTCTCTGTGACAATAAGG -3'
(R):5'- AGGTCTTACCCAACCTGTACC -3'
Sequencing Primer
(F):5'- GGTTGAAAATTTTACCTCCCATGTG -3'
(R):5'- GGTTGTAGGAAGTAGCACC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation