Incidental Mutation 'R3054:Ccdc150'
| ID |
265054 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc150
|
| Ensembl Gene |
ENSMUSG00000025983 |
| Gene Name |
coiled-coil domain containing 150 |
| Synonyms |
4930511H11Rik |
| MMRRC Submission |
040563-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R3054 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
54289842-54407886 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54328001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 361
(N361S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027128]
[ENSMUST00000160472]
|
| AlphaFold |
Q8CDI7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027128
AA Change: N361S
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000027128
Gene: ENSMUSG00000025983
AA Change: N361S
| 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: N361S
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000125195
Gene: ENSMUSG00000025983
AA Change: N361S
| 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 |
0.0696 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730596B20Rik |
A |
T |
6: 52,156,108 (GRCm39) |
|
probably benign |
Het |
| Aldh1l2 |
T |
C |
10: 83,338,336 (GRCm39) |
K528E |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,254,653 (GRCm39) |
C235R |
probably damaging |
Het |
| Armc6 |
C |
A |
8: 70,677,799 (GRCm39) |
V177L |
probably benign |
Het |
| Asb7 |
A |
T |
7: 66,328,959 (GRCm39) |
V27D |
probably damaging |
Het |
| Bard1 |
A |
G |
1: 71,127,390 (GRCm39) |
V73A |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,419,076 (GRCm39) |
L7P |
probably benign |
Het |
| Cst3 |
A |
G |
2: 148,713,951 (GRCm39) |
S118P |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,638,254 (GRCm39) |
D84G |
probably damaging |
Het |
| Ddo |
A |
G |
10: 40,507,738 (GRCm39) |
N45S |
probably benign |
Het |
| Drd4 |
T |
C |
7: 140,874,392 (GRCm39) |
V319A |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,871,792 (GRCm39) |
R3533H |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,912,802 (GRCm39) |
I3369F |
probably damaging |
Het |
| Gm5591 |
T |
C |
7: 38,220,058 (GRCm39) |
S272G |
probably benign |
Het |
| Gm8444 |
A |
T |
15: 81,727,845 (GRCm39) |
|
probably benign |
Het |
| Gm9776 |
A |
G |
13: 94,495,158 (GRCm39) |
|
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Larp1b |
A |
T |
3: 40,918,535 (GRCm39) |
I59F |
probably benign |
Het |
| Ltn1 |
C |
T |
16: 87,200,961 (GRCm39) |
A1092T |
probably benign |
Het |
| Map1b |
A |
G |
13: 99,569,250 (GRCm39) |
V1157A |
unknown |
Het |
| Mboat1 |
A |
T |
13: 30,379,724 (GRCm39) |
M92L |
probably benign |
Het |
| Meis3 |
G |
T |
7: 15,916,378 (GRCm39) |
L284F |
probably damaging |
Het |
| Muc20 |
T |
C |
16: 32,599,403 (GRCm39) |
F3317L |
probably benign |
Het |
| Muc5b |
G |
T |
7: 141,417,778 (GRCm39) |
V3575F |
probably damaging |
Het |
| Polr1e |
C |
T |
4: 45,018,724 (GRCm39) |
T18I |
possibly damaging |
Het |
| Ppp4r1 |
G |
T |
17: 66,143,074 (GRCm39) |
A764S |
probably damaging |
Het |
| Psg29 |
A |
G |
7: 16,942,727 (GRCm39) |
T243A |
probably benign |
Het |
| Ptprn2 |
T |
C |
12: 116,685,753 (GRCm39) |
Y71H |
probably damaging |
Het |
| Radx |
T |
A |
X: 138,412,306 (GRCm39) |
V439E |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sh3bp1 |
C |
T |
15: 78,795,622 (GRCm39) |
P584S |
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,373,807 (GRCm39) |
V971A |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,862,163 (GRCm39) |
H35Q |
probably damaging |
Het |
| Strn |
A |
T |
17: 78,990,321 (GRCm39) |
V65D |
probably damaging |
Het |
| Sumf1 |
T |
C |
6: 108,130,165 (GRCm39) |
N185D |
probably benign |
Het |
| Timm29 |
T |
C |
9: 21,504,887 (GRCm39) |
M185T |
probably damaging |
Het |
| Tjp3 |
T |
C |
10: 81,116,341 (GRCm39) |
K251R |
probably benign |
Het |
| Tubgcp6 |
A |
T |
15: 89,006,806 (GRCm39) |
M72K |
probably damaging |
Het |
| Utp14b |
T |
A |
1: 78,642,442 (GRCm39) |
D113E |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,646,507 (GRCm39) |
E1537G |
probably damaging |
Het |
| Zfr |
A |
G |
15: 12,154,593 (GRCm39) |
N592S |
probably damaging |
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 |
|
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 |
|
R4031:Ccdc150
|
UTSW |
1 |
54,317,970 (GRCm39) |
missense |
probably benign |
0.31 |
|
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'- TGGGGCTTCCATGATCAATAACTC -3'
(R):5'- GTTCAGCATGCGATAAATGAAACTG -3'
Sequencing Primer
(F):5'- GGCTTCCATGATCAATAACTCATAGG -3'
(R):5'- GCATGCGATAAATGAAACTGTTTTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation