Incidental Mutation 'R4957:Ccdc150'
| ID |
381616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc150
|
| Ensembl Gene |
ENSMUSG00000025983 |
| Gene Name |
coiled-coil domain containing 150 |
| Synonyms |
4930511H11Rik |
| MMRRC Submission |
042554-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R4957 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
54289842-54407886 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 54404027 bp (GRCm39)
|
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
| Validation Efficiency |
99% (80/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
G |
C |
1: 120,096,840 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
C |
T |
1: 120,096,850 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
G |
T |
1: 120,096,849 (GRCm39) |
|
probably benign |
Het |
| 6820408C15Rik |
T |
A |
2: 152,286,013 (GRCm39) |
V342D |
probably damaging |
Het |
| Arhgap33 |
C |
T |
7: 30,231,786 (GRCm39) |
G101R |
probably damaging |
Het |
| Atf7ip |
C |
T |
6: 136,583,808 (GRCm39) |
R1280C |
probably damaging |
Het |
| Cacnb4 |
T |
C |
2: 52,448,303 (GRCm39) |
H8R |
probably damaging |
Het |
| Cd74 |
A |
G |
18: 60,942,109 (GRCm39) |
N113D |
probably benign |
Het |
| Cdc25b |
T |
C |
2: 131,035,525 (GRCm39) |
V341A |
possibly damaging |
Het |
| Clptm1l |
T |
A |
13: 73,759,315 (GRCm39) |
I245N |
possibly damaging |
Het |
| Clptm1l |
T |
C |
13: 73,760,547 (GRCm39) |
I310T |
probably damaging |
Het |
| Creb5 |
A |
T |
6: 53,670,907 (GRCm39) |
|
probably null |
Het |
| Crebbp |
T |
C |
16: 3,935,231 (GRCm39) |
Q460R |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 117,965,124 (GRCm39) |
I2306N |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Elovl1 |
A |
T |
4: 118,289,120 (GRCm39) |
H215L |
probably damaging |
Het |
| Enkd1 |
A |
G |
8: 106,431,121 (GRCm39) |
I202T |
probably benign |
Het |
| Epha7 |
C |
T |
4: 28,871,892 (GRCm39) |
A407V |
probably damaging |
Het |
| Ercc3 |
G |
T |
18: 32,376,170 (GRCm39) |
G130W |
probably damaging |
Het |
| Fbxl8 |
A |
G |
8: 105,994,827 (GRCm39) |
E113G |
probably damaging |
Het |
| Frmpd1 |
T |
G |
4: 45,273,099 (GRCm39) |
N339K |
probably damaging |
Het |
| Frrs1 |
G |
A |
3: 116,678,897 (GRCm39) |
D240N |
probably benign |
Het |
| Gemin2 |
A |
G |
12: 59,063,954 (GRCm39) |
S105G |
probably benign |
Het |
| Glra1 |
T |
A |
11: 55,418,224 (GRCm39) |
I257F |
probably damaging |
Het |
| Gmcl1 |
G |
A |
6: 86,687,503 (GRCm39) |
P354S |
probably damaging |
Het |
| Gpr15 |
G |
T |
16: 58,538,537 (GRCm39) |
A184E |
probably damaging |
Het |
| Grm7 |
G |
A |
6: 111,335,824 (GRCm39) |
G745E |
probably damaging |
Het |
| H2-T10 |
T |
A |
17: 36,428,308 (GRCm39) |
|
probably benign |
Het |
| Hdac5 |
C |
A |
11: 102,096,082 (GRCm39) |
|
probably benign |
Het |
| Ift22 |
G |
A |
5: 136,937,070 (GRCm39) |
|
probably benign |
Het |
| Ighg3 |
T |
C |
12: 113,324,750 (GRCm39) |
E34G |
unknown |
Het |
| Itga11 |
A |
T |
9: 62,674,930 (GRCm39) |
T821S |
probably benign |
Het |
| Lmod2 |
T |
C |
6: 24,603,871 (GRCm39) |
V282A |
possibly damaging |
Het |
| Maml2 |
A |
G |
9: 13,531,572 (GRCm39) |
K262R |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,250,910 (GRCm39) |
|
probably benign |
Het |
| Mnat1 |
A |
G |
12: 73,170,652 (GRCm39) |
Y14C |
probably damaging |
Het |
| Mtdh |
A |
T |
15: 34,083,281 (GRCm39) |
T34S |
possibly damaging |
Het |
| Ncaph |
T |
C |
2: 126,963,177 (GRCm39) |
D352G |
possibly damaging |
Het |
| Or2t43 |
A |
G |
11: 58,457,344 (GRCm39) |
Y276H |
probably damaging |
Het |
| Or4f17-ps1 |
C |
A |
2: 111,358,569 (GRCm39) |
N321K |
probably benign |
Het |
| Or5m9b |
T |
A |
2: 85,905,854 (GRCm39) |
Y257N |
probably damaging |
Het |
| Or9g8 |
T |
C |
2: 85,607,459 (GRCm39) |
F177S |
probably damaging |
Het |
| Pcdhb13 |
T |
A |
18: 37,577,837 (GRCm39) |
D738E |
possibly damaging |
Het |
| Pla2g4f |
C |
T |
2: 120,130,980 (GRCm39) |
R825Q |
probably benign |
Het |
| Pnliprp2 |
C |
T |
19: 58,763,577 (GRCm39) |
L409F |
possibly damaging |
Het |
| Prlr |
G |
T |
15: 10,319,281 (GRCm39) |
C70F |
probably damaging |
Het |
| Ptpn14 |
C |
T |
1: 189,583,469 (GRCm39) |
T772I |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,799,966 (GRCm39) |
Q927R |
probably damaging |
Het |
| Scarf1 |
A |
G |
11: 75,416,460 (GRCm39) |
E634G |
probably benign |
Het |
| Scart1 |
T |
C |
7: 139,808,435 (GRCm39) |
V782A |
probably damaging |
Het |
| Skic3 |
T |
G |
13: 76,333,232 (GRCm39) |
|
probably null |
Het |
| Slc39a14 |
A |
T |
14: 70,553,260 (GRCm39) |
S158R |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,365,194 (GRCm39) |
T176S |
probably benign |
Het |
| Srsf10 |
T |
C |
4: 135,583,541 (GRCm39) |
S2P |
probably damaging |
Het |
| Tcam1 |
T |
A |
11: 106,173,705 (GRCm39) |
C50S |
probably damaging |
Het |
| Tcf7l2 |
A |
G |
19: 55,919,864 (GRCm39) |
|
probably null |
Het |
| Tdrd3 |
T |
A |
14: 87,743,223 (GRCm39) |
H390Q |
probably benign |
Het |
| Tlk2 |
T |
C |
11: 105,144,185 (GRCm39) |
|
probably null |
Het |
| Tnc |
G |
C |
4: 63,894,793 (GRCm39) |
P1531R |
probably damaging |
Het |
| Tnfrsf1b |
C |
A |
4: 144,973,327 (GRCm39) |
Q15H |
probably damaging |
Het |
| Tnfrsf1b |
T |
G |
4: 144,973,328 (GRCm39) |
Q15P |
possibly damaging |
Het |
| Tssk4 |
A |
T |
14: 55,889,266 (GRCm39) |
E264V |
probably damaging |
Het |
| Ugt3a1 |
G |
A |
15: 9,365,274 (GRCm39) |
V296I |
probably benign |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn2r8 |
T |
G |
5: 108,947,129 (GRCm39) |
E541A |
probably benign |
Het |
| Ybx1 |
A |
T |
4: 119,136,135 (GRCm39) |
|
probably benign |
Het |
| Zfp39 |
T |
A |
11: 58,782,057 (GRCm39) |
Y235F |
possibly damaging |
Het |
| Zfp422 |
T |
A |
6: 116,603,904 (GRCm39) |
K32* |
probably null |
Het |
| Zpbp2 |
T |
A |
11: 98,442,150 (GRCm39) |
|
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 |
|
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 |
|
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'- ATTTTAGCACCCTGGCAGTG -3'
(R):5'- TTCTGCAGGGTATTCATCTCAG -3'
Sequencing Primer
(F):5'- ACCCTGGCAGTGGCTGTG -3'
(R):5'- AATCTCTGGATGCTCAAGGAC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation