Incidental Mutation 'R7322:Ccdc150'
| ID |
568187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc150
|
| Ensembl Gene |
ENSMUSG00000025983 |
| Gene Name |
coiled-coil domain containing 150 |
| Synonyms |
4930511H11Rik |
| MMRRC Submission |
045417-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R7322 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
54289842-54407886 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54299125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 34
(T34A)
|
| 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: T34A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000027128
Gene: ENSMUSG00000025983
AA Change: T34A
| 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: T34A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000125195
Gene: ENSMUSG00000025983
AA Change: T34A
| 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: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
T |
4: 53,067,151 (GRCm39) |
V1352D |
probably damaging |
Het |
| Adam33 |
C |
T |
2: 130,895,614 (GRCm39) |
C567Y |
probably damaging |
Het |
| Alppl2 |
C |
A |
1: 87,015,184 (GRCm39) |
G422C |
probably benign |
Het |
| Ang |
T |
A |
14: 51,338,868 (GRCm39) |
I3K |
unknown |
Het |
| Ankrd10 |
A |
T |
8: 11,665,841 (GRCm39) |
V253E |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,527,004 (GRCm39) |
I806V |
probably benign |
Het |
| Atp10b |
T |
C |
11: 43,103,374 (GRCm39) |
L586P |
probably damaging |
Het |
| Bdkrb1 |
T |
C |
12: 105,570,563 (GRCm39) |
V43A |
possibly damaging |
Het |
| Brinp3 |
C |
T |
1: 146,558,426 (GRCm39) |
R117* |
probably null |
Het |
| Brwd1 |
A |
T |
16: 95,867,319 (GRCm39) |
M172K |
probably damaging |
Het |
| Bsn |
G |
A |
9: 108,003,620 (GRCm39) |
R262* |
probably null |
Het |
| Bst2 |
A |
C |
8: 71,989,851 (GRCm39) |
L74R |
probably damaging |
Het |
| C1qa |
T |
C |
4: 136,623,465 (GRCm39) |
*246W |
probably null |
Het |
| Cadm2 |
G |
A |
16: 66,679,734 (GRCm39) |
T42M |
probably damaging |
Het |
| Ccdc178 |
G |
A |
18: 22,238,606 (GRCm39) |
T337M |
probably benign |
Het |
| Ccl8 |
T |
C |
11: 82,007,408 (GRCm39) |
V81A |
probably damaging |
Het |
| Dgcr6 |
A |
G |
16: 17,888,771 (GRCm39) |
T69A |
unknown |
Het |
| Dnah10 |
A |
G |
5: 124,898,333 (GRCm39) |
D3762G |
probably benign |
Het |
| Eif3d |
T |
C |
15: 77,845,876 (GRCm39) |
T382A |
probably benign |
Het |
| Epb41 |
A |
T |
4: 131,717,030 (GRCm39) |
Y375N |
probably damaging |
Het |
| Epb41l1 |
A |
T |
2: 156,345,771 (GRCm39) |
H258L |
probably damaging |
Het |
| Fbn1 |
A |
C |
2: 125,321,115 (GRCm39) |
I81S |
possibly damaging |
Het |
| Fzd5 |
A |
G |
1: 64,774,487 (GRCm39) |
S425P |
probably damaging |
Het |
| Gfra2 |
T |
A |
14: 71,205,831 (GRCm39) |
V398D |
probably benign |
Het |
| Gm3755 |
A |
G |
14: 18,620,904 (GRCm39) |
L130P |
|
Het |
| Grin3b |
A |
G |
10: 79,811,529 (GRCm39) |
Y705C |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,349,093 (GRCm39) |
D4944G |
probably damaging |
Het |
| Hoxd11 |
T |
C |
2: 74,514,355 (GRCm39) |
L295P |
probably damaging |
Het |
| Ighv1-81 |
C |
A |
12: 115,884,287 (GRCm39) |
G16C |
possibly damaging |
Het |
| Kcna5 |
T |
C |
6: 126,510,754 (GRCm39) |
D458G |
possibly damaging |
Het |
| Klb |
A |
T |
5: 65,540,707 (GRCm39) |
E933D |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,381,433 (GRCm39) |
M3855K |
probably benign |
Het |
| Map3k4 |
A |
T |
17: 12,489,833 (GRCm39) |
L533I |
probably damaging |
Het |
| Mrps6 |
C |
A |
16: 91,855,335 (GRCm39) |
Y4* |
probably null |
Het |
| Nabp1 |
A |
T |
1: 51,512,229 (GRCm39) |
V105E |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,435,896 (GRCm39) |
N876Y |
possibly damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,311,644 (GRCm39) |
S944G |
possibly damaging |
Het |
| Nr4a3 |
A |
T |
4: 48,083,238 (GRCm39) |
E590D |
probably benign |
Het |
| Or10h5 |
A |
G |
17: 33,434,673 (GRCm39) |
I215T |
probably damaging |
Het |
| Or1b1 |
T |
C |
2: 36,995,603 (GRCm39) |
R20G |
probably null |
Het |
| Or52ab2 |
T |
A |
7: 102,970,494 (GRCm39) |
V292E |
|
Het |
| Or5j1 |
A |
T |
2: 86,878,823 (GRCm39) |
Y252* |
probably null |
Het |
| Or8k22 |
C |
T |
2: 86,162,908 (GRCm39) |
S264N |
probably benign |
Het |
| Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,437,248 (GRCm39) |
D451G |
probably damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,146,129 (GRCm39) |
S142P |
probably benign |
Het |
| Postn |
T |
C |
3: 54,277,701 (GRCm39) |
L232P |
probably damaging |
Het |
| Prss8 |
T |
C |
7: 127,528,735 (GRCm39) |
T33A |
probably benign |
Het |
| Ptgr3 |
A |
G |
18: 84,113,260 (GRCm39) |
Y312C |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 79,053,130 (GRCm39) |
M1K |
probably null |
Het |
| Rasa3 |
T |
C |
8: 13,645,857 (GRCm39) |
N161S |
possibly damaging |
Het |
| Riox1 |
G |
A |
12: 83,997,442 (GRCm39) |
|
probably benign |
Het |
| Rmdn2 |
A |
T |
17: 79,929,040 (GRCm39) |
K97N |
probably damaging |
Het |
| Sgo1 |
A |
G |
17: 53,984,085 (GRCm39) |
L431P |
probably damaging |
Het |
| Slc9a8 |
T |
A |
2: 167,293,222 (GRCm39) |
V217E |
probably damaging |
Het |
| Slco2b1 |
C |
T |
7: 99,341,055 (GRCm39) |
G21D |
not run |
Het |
| Spata31d1d |
C |
A |
13: 59,874,790 (GRCm39) |
R915L |
probably benign |
Het |
| Stk17b |
A |
T |
1: 53,805,104 (GRCm39) |
N152K |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,030,798 (GRCm39) |
I3634N |
probably damaging |
Het |
| Tnfrsf9 |
A |
G |
4: 151,018,794 (GRCm39) |
D155G |
probably damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,770,731 (GRCm39) |
D840E |
probably benign |
Het |
| Tyk2 |
G |
A |
9: 21,021,500 (GRCm39) |
S902L |
probably benign |
Het |
| Unc119 |
T |
C |
11: 78,239,449 (GRCm39) |
S235P |
probably damaging |
Het |
| Vav1 |
A |
C |
17: 57,609,266 (GRCm39) |
D394A |
probably benign |
Het |
| Vezf1 |
T |
A |
11: 87,972,410 (GRCm39) |
I439K |
possibly damaging |
Het |
| Zfp335 |
A |
T |
2: 164,752,741 (GRCm39) |
M1K |
probably null |
Het |
| Zfp715 |
T |
C |
7: 42,960,562 (GRCm39) |
T10A |
possibly damaging |
Het |
| Zmynd11 |
C |
T |
13: 9,740,445 (GRCm39) |
E382K |
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 |
|
|
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'- TTGAGAAAATCAGGACCTACGTC -3'
(R):5'- GTGTCAAAGCTCATATGGAAACC -3'
Sequencing Primer
(F):5'- CGTCCATTTTCTAGGAAATAAGACAG -3'
(R):5'- CCAAAGGTATCTCTCTCATCTGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation