Incidental Mutation 'R9416:Ccdc150'
| ID |
712027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc150
|
| Ensembl Gene |
ENSMUSG00000025983 |
| Gene Name |
coiled-coil domain containing 150 |
| Synonyms |
4930511H11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R9416 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
54289842-54407886 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54317990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 310
(S310P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027128]
[ENSMUST00000160472]
|
| AlphaFold |
Q8CDI7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027128
AA Change: S310P
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027128
Gene: ENSMUSG00000025983
AA Change: S310P
| 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: S310P
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125195
Gene: ENSMUSG00000025983
AA Change: S310P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
C |
T |
4: 86,342,477 (GRCm39) |
T1672I |
probably damaging |
Het |
| Ahnak |
T |
G |
19: 8,990,266 (GRCm39) |
M3850R |
unknown |
Het |
| Cacna1s |
T |
A |
1: 136,022,689 (GRCm39) |
L874Q |
possibly damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,274,479 (GRCm39) |
D622V |
probably benign |
Het |
| Cecr2 |
A |
T |
6: 120,735,538 (GRCm39) |
N148Y |
|
Het |
| Celsr2 |
T |
C |
3: 108,322,084 (GRCm39) |
T243A |
probably damaging |
Het |
| Coro1b |
C |
T |
19: 4,201,473 (GRCm39) |
T279I |
probably damaging |
Het |
| Cyp51 |
A |
G |
5: 4,150,198 (GRCm39) |
I175T |
probably damaging |
Het |
| Dnajc21 |
T |
C |
15: 10,462,048 (GRCm39) |
I118V |
possibly damaging |
Het |
| Dtna |
T |
C |
18: 23,780,112 (GRCm39) |
|
probably null |
Het |
| Etl4 |
A |
G |
2: 20,748,784 (GRCm39) |
K374R |
probably benign |
Het |
| Fance |
G |
A |
17: 28,537,327 (GRCm39) |
C53Y |
probably damaging |
Het |
| Gm14496 |
G |
T |
2: 181,640,647 (GRCm39) |
C538F |
probably damaging |
Het |
| Gon4l |
T |
A |
3: 88,803,538 (GRCm39) |
V1383D |
probably benign |
Het |
| Gpr6 |
C |
A |
10: 40,946,944 (GRCm39) |
D213Y |
possibly damaging |
Het |
| Has2 |
A |
G |
15: 56,531,684 (GRCm39) |
Y344H |
probably damaging |
Het |
| Kcnh2 |
A |
T |
5: 24,537,964 (GRCm39) |
M133K |
probably benign |
Het |
| Kdm5a |
A |
G |
6: 120,365,056 (GRCm39) |
H152R |
probably damaging |
Het |
| Klhl33 |
C |
T |
14: 51,130,225 (GRCm39) |
R163H |
probably damaging |
Het |
| Lax1 |
T |
A |
1: 133,611,752 (GRCm39) |
Q61L |
probably benign |
Het |
| Lct |
T |
C |
1: 128,228,329 (GRCm39) |
T1055A |
possibly damaging |
Het |
| Lrrc8c |
A |
G |
5: 105,756,163 (GRCm39) |
Y646C |
possibly damaging |
Het |
| Mtarc1 |
T |
C |
1: 184,527,633 (GRCm39) |
T274A |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,902,577 (GRCm39) |
V51A |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,137,215 (GRCm39) |
S250P |
|
Het |
| Nim1k |
A |
T |
13: 120,189,362 (GRCm39) |
C16S |
probably benign |
Het |
| Oosp1 |
T |
C |
19: 11,664,769 (GRCm39) |
T96A |
probably damaging |
Het |
| Or1e1c |
T |
C |
11: 73,265,790 (GRCm39) |
S75P |
probably damaging |
Het |
| Or2q1 |
G |
T |
6: 42,795,197 (GRCm39) |
R264L |
probably benign |
Het |
| Or8k17 |
T |
A |
2: 86,066,744 (GRCm39) |
Q138L |
probably damaging |
Het |
| Pik3c2b |
C |
T |
1: 133,005,187 (GRCm39) |
R563C |
probably damaging |
Het |
| Ppp1r18 |
CGAGGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGAGGA |
17: 36,184,743 (GRCm39) |
|
probably benign |
Het |
| Prps1l1 |
T |
A |
12: 35,035,089 (GRCm39) |
M68K |
|
Het |
| Prr11 |
A |
T |
11: 86,992,254 (GRCm39) |
L207* |
probably null |
Het |
| Psme3 |
T |
C |
11: 101,211,559 (GRCm39) |
Y202H |
probably damaging |
Het |
| Ptma |
A |
G |
1: 86,455,694 (GRCm39) |
S57G |
unknown |
Het |
| Rab24 |
A |
G |
13: 55,468,049 (GRCm39) |
V33A |
unknown |
Het |
| Reep6 |
A |
G |
10: 80,166,091 (GRCm39) |
T83A |
probably benign |
Het |
| Semp2l2b |
C |
T |
10: 21,943,752 (GRCm39) |
R76Q |
probably benign |
Het |
| Shroom4 |
GCAACAACAACAACAACAACAACAACA |
GCAACAACAACAACAACAACAACA |
X: 6,536,131 (GRCm39) |
|
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,925,390 (GRCm39) |
K357R |
probably benign |
Het |
| Slc2a4 |
T |
A |
11: 69,836,728 (GRCm39) |
H167L |
probably benign |
Het |
| Slc8a3 |
T |
A |
12: 81,361,838 (GRCm39) |
H327L |
probably benign |
Het |
| Slf1 |
G |
A |
13: 77,194,656 (GRCm39) |
L890F |
|
Het |
| Smchd1 |
A |
C |
17: 71,701,791 (GRCm39) |
I1067R |
probably benign |
Het |
| Stk33 |
T |
A |
7: 108,940,689 (GRCm39) |
N7I |
probably benign |
Het |
| Tex47 |
T |
C |
5: 7,355,194 (GRCm39) |
M125T |
possibly damaging |
Het |
| Thada |
A |
T |
17: 84,766,292 (GRCm39) |
L38* |
probably null |
Het |
| Thbs1 |
A |
G |
2: 117,947,983 (GRCm39) |
D381G |
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,203,603 (GRCm39) |
V1009D |
|
Het |
| Usp17la |
A |
T |
7: 104,508,531 (GRCm39) |
|
probably benign |
Het |
| Zfp438 |
A |
T |
18: 5,214,054 (GRCm39) |
N301K |
probably benign |
Het |
| Zfp606 |
T |
A |
7: 12,227,907 (GRCm39) |
I676N |
possibly 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 |
|
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 |
|
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 |
|
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'- TCCTCTCTGTGACAATAAGGTTG -3'
(R):5'- AGTAAGGTCTTACCCAACCTGTAC -3'
Sequencing Primer
(F):5'- GGTTGAAAATTTTACCTCCCATGTG -3'
(R):5'- GGGTTGTAGGAAGTAGCAC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation