Incidental Mutation 'R9576:Ccdc150'
| ID |
722258 |
| 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 # |
R9576 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
54289842-54407886 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 54407544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 1107
(E1107*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027128]
[ENSMUST00000160472]
|
| AlphaFold |
Q8CDI7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027128
AA Change: E1107*
|
| SMART Domains |
Protein: ENSMUSP00000027128
Gene: ENSMUSG00000025983
AA Change: E1107*
| 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
|
| 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 |
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
A |
15: 81,947,843 (GRCm39) |
I580N |
probably benign |
Het |
| Aars1 |
T |
A |
8: 111,768,296 (GRCm39) |
Y222* |
probably null |
Het |
| Abi2 |
G |
T |
1: 60,449,008 (GRCm39) |
R16L |
possibly damaging |
Het |
| Adam9 |
C |
A |
8: 25,445,953 (GRCm39) |
V814F |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,691,608 (GRCm39) |
T1660A |
probably benign |
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Arhgap26 |
T |
A |
18: 39,253,207 (GRCm39) |
Y211* |
probably null |
Het |
| Ascc3 |
T |
C |
10: 50,494,254 (GRCm39) |
Y230H |
possibly damaging |
Het |
| Btg4 |
C |
A |
9: 51,030,436 (GRCm39) |
Q179K |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,911,749 (GRCm39) |
D695G |
possibly damaging |
Het |
| Cd200r4 |
A |
G |
16: 44,658,338 (GRCm39) |
T241A |
|
Het |
| Chd9 |
T |
A |
8: 91,659,294 (GRCm39) |
S85T |
unknown |
Het |
| Cltc |
G |
A |
11: 86,593,237 (GRCm39) |
S1542F |
probably benign |
Het |
| Col6a4 |
C |
A |
9: 105,945,271 (GRCm39) |
A948S |
probably benign |
Het |
| Crygb |
T |
C |
1: 65,119,686 (GRCm39) |
D98G |
probably benign |
Het |
| Ctbp2 |
A |
T |
7: 132,616,198 (GRCm39) |
S246T |
probably benign |
Het |
| Dcp1b |
T |
A |
6: 119,196,993 (GRCm39) |
Y563* |
probably null |
Het |
| Ddx59 |
T |
A |
1: 136,344,681 (GRCm39) |
Y117* |
probably null |
Het |
| Dhx30 |
A |
G |
9: 109,916,712 (GRCm39) |
L601P |
probably damaging |
Het |
| Dnah5 |
C |
T |
15: 28,272,286 (GRCm39) |
T1030M |
probably benign |
Het |
| Dpp10 |
A |
G |
1: 123,269,409 (GRCm39) |
S667P |
probably damaging |
Het |
| Epha7 |
G |
A |
4: 28,870,659 (GRCm39) |
C312Y |
probably damaging |
Het |
| Gbf1 |
A |
T |
19: 46,248,122 (GRCm39) |
T300S |
probably benign |
Het |
| Glp2r |
T |
C |
11: 67,655,622 (GRCm39) |
K40R |
probably benign |
Het |
| H2-Q5 |
G |
A |
17: 35,613,413 (GRCm39) |
V49M |
|
Het |
| Havcr1 |
T |
A |
11: 46,669,391 (GRCm39) |
V290E |
probably benign |
Het |
| Hc |
T |
A |
2: 34,873,767 (GRCm39) |
T1656S |
probably benign |
Het |
| Hfm1 |
A |
T |
5: 107,021,938 (GRCm39) |
I999N |
probably benign |
Het |
| Hoxc4 |
A |
T |
15: 102,944,384 (GRCm39) |
E254V |
probably benign |
Het |
| Il5ra |
T |
C |
6: 106,712,688 (GRCm39) |
N275S |
probably damaging |
Het |
| Itfg2 |
C |
A |
6: 128,389,950 (GRCm39) |
A272S |
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,212,505 (GRCm39) |
I1537N |
probably damaging |
Het |
| Jakmip3 |
A |
G |
7: 138,621,988 (GRCm39) |
E296G |
probably damaging |
Het |
| Jchain |
T |
G |
5: 88,673,976 (GRCm39) |
E56A |
probably damaging |
Het |
| Kcnh5 |
A |
T |
12: 74,944,307 (GRCm39) |
S981T |
probably benign |
Het |
| Kcnk2 |
CAAA |
CAA |
1: 188,988,891 (GRCm39) |
|
probably null |
Het |
| Klk1b4 |
A |
T |
7: 43,860,477 (GRCm39) |
D165V |
probably benign |
Het |
| Krt1c |
T |
A |
15: 101,719,792 (GRCm39) |
Y626F |
unknown |
Het |
| Lrrk2 |
T |
A |
15: 91,636,388 (GRCm39) |
L1454* |
probably null |
Het |
| Myb |
C |
T |
10: 21,030,612 (GRCm39) |
D62N |
probably benign |
Het |
| Myo18a |
T |
A |
11: 77,709,827 (GRCm39) |
I607N |
probably damaging |
Het |
| Nefh |
C |
T |
11: 4,891,222 (GRCm39) |
E466K |
possibly damaging |
Het |
| Nudc |
T |
C |
4: 133,262,989 (GRCm39) |
E118G |
probably benign |
Het |
| Or2aj6 |
A |
T |
16: 19,442,961 (GRCm39) |
D296E |
probably damaging |
Het |
| Or56a3 |
T |
C |
7: 104,735,760 (GRCm39) |
L279S |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Per1 |
T |
A |
11: 68,998,855 (GRCm39) |
M1142K |
probably damaging |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Plec |
C |
A |
15: 76,115,377 (GRCm39) |
A66S |
probably benign |
Het |
| Plekha7 |
T |
C |
7: 115,728,669 (GRCm39) |
Y1199C |
possibly damaging |
Het |
| Pou2f2 |
C |
A |
7: 24,796,569 (GRCm39) |
A302S |
probably benign |
Het |
| Prkag3 |
A |
T |
1: 74,787,082 (GRCm39) |
W59R |
|
Het |
| Rin3 |
T |
A |
12: 102,335,589 (GRCm39) |
L420* |
probably null |
Het |
| Sash1 |
T |
A |
10: 8,620,299 (GRCm39) |
M454L |
probably benign |
Het |
| Serpina3i |
A |
G |
12: 104,234,730 (GRCm39) |
T354A |
probably benign |
Het |
| Skap1 |
T |
C |
11: 96,472,030 (GRCm39) |
F101S |
probably benign |
Het |
| Slc16a8 |
T |
A |
15: 79,136,182 (GRCm39) |
Q340L |
probably damaging |
Het |
| Slc2a12 |
A |
T |
10: 22,578,004 (GRCm39) |
Q600L |
possibly damaging |
Het |
| Slc39a14 |
T |
G |
14: 70,556,235 (GRCm39) |
D47A |
probably benign |
Het |
| Slfn9 |
T |
A |
11: 82,878,211 (GRCm39) |
Y306F |
possibly damaging |
Het |
| Sos1 |
T |
C |
17: 80,742,367 (GRCm39) |
M387V |
probably benign |
Het |
| Srl |
A |
T |
16: 4,301,031 (GRCm39) |
L680Q |
probably damaging |
Het |
| Tas1r3 |
C |
T |
4: 155,946,822 (GRCm39) |
R261H |
probably benign |
Het |
| Tm7sf3 |
C |
A |
6: 146,511,335 (GRCm39) |
G385W |
probably damaging |
Het |
| Tmem191 |
C |
T |
16: 17,094,526 (GRCm39) |
R62* |
probably null |
Het |
| Triobp |
T |
C |
15: 78,844,266 (GRCm39) |
S161P |
probably damaging |
Het |
| Usp13 |
A |
T |
3: 32,969,135 (GRCm39) |
|
probably null |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Vmn1r230 |
C |
A |
17: 21,067,163 (GRCm39) |
C117* |
probably null |
Het |
| Vmn2r50 |
T |
C |
7: 9,771,190 (GRCm39) |
Q837R |
probably benign |
Het |
| Zfp618 |
T |
C |
4: 63,051,282 (GRCm39) |
S688P |
probably benign |
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 |
|
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 |
|
R9747:Ccdc150
|
UTSW |
1 |
54,299,107 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCGACAACTGCTGGGAAAC -3'
(R):5'- ACAAAGAGATGGGTTGGTTCTG -3'
Sequencing Primer
(F):5'- CACCTTTCCCAAACTATGTAGATC -3'
(R):5'- GGTTCTGCAGTAATAGAAAAGAGTTC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation