Incidental Mutation 'R1146:Ccdc150'
| ID |
165086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc150
|
| Ensembl Gene |
ENSMUSG00000025983 |
| Gene Name |
coiled-coil domain containing 150 |
| Synonyms |
4930511H11Rik |
| MMRRC Submission |
039219-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R1146 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
54250683-54368727 bp(+) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 54364971 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027128]
[ENSMUST00000160472]
|
| AlphaFold |
Q8CDI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027128
|
| SMART Domains |
Protein: ENSMUSP00000027128
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 |
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
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.5%
- 10x: 95.4%
- 20x: 88.7%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,531,676 (GRCm38) |
V1848E |
probably damaging |
Het |
| Alpk3 |
A |
G |
7: 81,077,595 (GRCm38) |
K158E |
probably damaging |
Het |
| Arrdc4 |
T |
A |
7: 68,740,008 (GRCm38) |
E356D |
probably damaging |
Het |
| Asb4 |
A |
G |
6: 5,423,591 (GRCm38) |
N246S |
probably damaging |
Het |
| Ctsj |
G |
A |
13: 61,002,498 (GRCm38) |
P230L |
probably benign |
Het |
| Dync1i2 |
C |
T |
2: 71,227,820 (GRCm38) |
|
probably benign |
Het |
| Eme1 |
A |
G |
11: 94,645,451 (GRCm38) |
L564P |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,312,387 (GRCm38) |
T57I |
probably benign |
Het |
| Frg1 |
A |
G |
8: 41,411,217 (GRCm38) |
|
probably benign |
Het |
| Fzd2 |
A |
T |
11: 102,605,380 (GRCm38) |
S217C |
possibly damaging |
Het |
| Gaa |
G |
T |
11: 119,274,904 (GRCm38) |
R81L |
probably damaging |
Het |
| Gfral |
A |
G |
9: 76,167,059 (GRCm38) |
V368A |
probably benign |
Het |
| Gm10774 |
T |
C |
2: 126,709,472 (GRCm38) |
Y29C |
probably benign |
Het |
| Gucy1a2 |
T |
A |
9: 3,759,830 (GRCm38) |
N545K |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 56,146,696 (GRCm38) |
S1939P |
probably benign |
Het |
| Ifnk |
T |
C |
4: 35,152,231 (GRCm38) |
I53T |
probably benign |
Het |
| Iqub |
G |
A |
6: 24,505,628 (GRCm38) |
L94F |
possibly damaging |
Het |
| Kpna1 |
C |
T |
16: 36,033,379 (GRCm38) |
R460* |
probably null |
Het |
| Masp1 |
T |
C |
16: 23,492,115 (GRCm38) |
E189G |
probably damaging |
Het |
| Mogat1 |
A |
G |
1: 78,523,613 (GRCm38) |
I105V |
probably benign |
Het |
| Mpi |
A |
G |
9: 57,545,189 (GRCm38) |
|
probably benign |
Het |
| Msh2 |
C |
A |
17: 87,680,060 (GRCm38) |
D209E |
probably benign |
Het |
| Nsf |
G |
A |
11: 103,828,538 (GRCm38) |
T646I |
probably damaging |
Het |
| Olfr1257 |
C |
T |
2: 89,881,206 (GRCm38) |
P127S |
probably damaging |
Het |
| Olfr1416 |
G |
A |
1: 92,479,890 (GRCm38) |
H244Y |
probably damaging |
Het |
| Olfr1449 |
T |
A |
19: 12,934,965 (GRCm38) |
S76T |
possibly damaging |
Het |
| Olfr980 |
A |
T |
9: 40,006,094 (GRCm38) |
V285D |
possibly damaging |
Het |
| Otogl |
T |
A |
10: 107,886,513 (GRCm38) |
I327F |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,854,982 (GRCm38) |
D832G |
probably damaging |
Het |
| Pax5 |
G |
T |
4: 44,697,512 (GRCm38) |
|
probably benign |
Het |
| Pfkfb4 |
A |
G |
9: 109,007,726 (GRCm38) |
E163G |
probably benign |
Het |
| Phc1 |
T |
C |
6: 122,323,457 (GRCm38) |
|
probably benign |
Het |
| Piwil1 |
T |
C |
5: 128,747,893 (GRCm38) |
S552P |
probably benign |
Het |
| Ppfia3 |
A |
C |
7: 45,352,215 (GRCm38) |
D424E |
probably benign |
Het |
| Prss16 |
A |
G |
13: 22,006,968 (GRCm38) |
|
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,443,594 (GRCm38) |
V1007D |
probably damaging |
Het |
| Rbsn |
A |
G |
6: 92,201,730 (GRCm38) |
|
probably null |
Het |
| Rexo1 |
C |
T |
10: 80,544,405 (GRCm38) |
S919N |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,362,173 (GRCm38) |
N1152D |
probably damaging |
Het |
| Sel1l3 |
A |
T |
5: 53,117,103 (GRCm38) |
F1012I |
possibly damaging |
Het |
| Sema4c |
A |
G |
1: 36,550,565 (GRCm38) |
V539A |
probably benign |
Het |
| Sf3b5 |
A |
G |
10: 13,008,831 (GRCm38) |
E70G |
possibly damaging |
Het |
| Tmcc2 |
TTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGC |
1: 132,357,755 (GRCm38) |
|
probably benign |
Het |
| Tor1aip2 |
T |
C |
1: 156,064,737 (GRCm38) |
V263A |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,922,907 (GRCm38) |
E380G |
probably damaging |
Het |
| Usp16 |
C |
T |
16: 87,474,648 (GRCm38) |
T364M |
possibly damaging |
Het |
| Wwox |
T |
C |
8: 114,712,036 (GRCm38) |
S281P |
probably damaging |
Het |
| Zfp110 |
A |
G |
7: 12,846,794 (GRCm38) |
|
probably null |
Het |
| Zfp335 |
G |
A |
2: 164,896,123 (GRCm38) |
A856V |
probably benign |
Het |
| Zfp652 |
G |
A |
11: 95,749,782 (GRCm38) |
E178K |
possibly 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 |
|
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 |
|
|
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'- GTTACGTCTGTGGCATCATCTTTGC -3'
(R):5'- ACTGGGGTCTAGGATCAACAGAGC -3'
Sequencing Primer
(F):5'- CTATTACCAGTGGGCTAGATAGG -3'
(R):5'- ggatcaacagagccaggaac -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation