Incidental Mutation 'R1855:Ccdc150'
| ID |
205999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc150
|
| Ensembl Gene |
ENSMUSG00000025983 |
| Gene Name |
coiled-coil domain containing 150 |
| Synonyms |
4930511H11Rik |
| MMRRC Submission |
039879-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R1855 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
54250683-54368727 bp(+) (GRCm38) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 54367910 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.4%
|
| Validation Efficiency |
97% (72/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
A |
1: 11,747,971 (GRCm38) |
L285Q |
probably damaging |
Het |
| Acaca |
T |
C |
11: 84,371,554 (GRCm38) |
L1994P |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,901,369 (GRCm38) |
|
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,210,304 (GRCm38) |
E574G |
probably benign |
Het |
| Ankrd1 |
T |
C |
19: 36,119,235 (GRCm38) |
K64R |
probably damaging |
Het |
| Arhgap23 |
T |
C |
11: 97,448,697 (GRCm38) |
I163T |
probably damaging |
Het |
| Ascc3 |
A |
T |
10: 50,617,922 (GRCm38) |
Q151L |
probably benign |
Het |
| Atad2 |
G |
A |
15: 58,097,289 (GRCm38) |
P971L |
possibly damaging |
Het |
| C1s1 |
A |
C |
6: 124,534,356 (GRCm38) |
|
probably null |
Het |
| Cdhr3 |
A |
T |
12: 33,060,352 (GRCm38) |
I311N |
probably damaging |
Het |
| Chad |
T |
A |
11: 94,565,477 (GRCm38) |
L127H |
probably damaging |
Het |
| Clasp1 |
G |
A |
1: 118,508,894 (GRCm38) |
A303T |
probably damaging |
Het |
| Clptm1 |
A |
G |
7: 19,638,209 (GRCm38) |
V234A |
probably benign |
Het |
| Cnih3 |
C |
A |
1: 181,454,621 (GRCm38) |
S140* |
probably null |
Het |
| Col24a1 |
G |
A |
3: 145,459,140 (GRCm38) |
G1033D |
probably damaging |
Het |
| Csnk1a1 |
T |
A |
18: 61,575,427 (GRCm38) |
|
probably null |
Het |
| Cttnbp2 |
T |
A |
6: 18,378,413 (GRCm38) |
I1475L |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,411,669 (GRCm38) |
V3728A |
possibly damaging |
Het |
| Dock9 |
C |
A |
14: 121,640,159 (GRCm38) |
V391F |
probably damaging |
Het |
| Ehmt2 |
A |
T |
17: 34,910,776 (GRCm38) |
I949F |
probably damaging |
Het |
| Eif4g1 |
C |
A |
16: 20,687,161 (GRCm38) |
T1025K |
possibly damaging |
Het |
| Enpp2 |
C |
T |
15: 54,845,823 (GRCm38) |
E803K |
probably damaging |
Het |
| Esrrg |
A |
T |
1: 188,211,098 (GRCm38) |
M423L |
probably damaging |
Het |
| Etnppl |
A |
T |
3: 130,620,722 (GRCm38) |
I89F |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,312,387 (GRCm38) |
T57I |
probably benign |
Het |
| Fbln7 |
A |
G |
2: 128,893,835 (GRCm38) |
T248A |
possibly damaging |
Het |
| Galnt9 |
C |
T |
5: 110,615,524 (GRCm38) |
T465M |
probably damaging |
Het |
| Grcc10 |
A |
G |
6: 124,740,578 (GRCm38) |
V57A |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,391,426 (GRCm38) |
M614K |
possibly damaging |
Het |
| Itch |
C |
T |
2: 155,172,454 (GRCm38) |
|
probably benign |
Het |
| Kdm6b |
C |
A |
11: 69,407,286 (GRCm38) |
A167S |
probably damaging |
Het |
| Kidins220 |
C |
T |
12: 25,056,591 (GRCm38) |
R1348C |
probably damaging |
Het |
| Kif17 |
T |
C |
4: 138,288,271 (GRCm38) |
L577P |
probably benign |
Het |
| Krt25 |
A |
T |
11: 99,318,315 (GRCm38) |
L258Q |
probably damaging |
Het |
| Marchf10 |
T |
C |
11: 105,390,392 (GRCm38) |
T356A |
probably benign |
Het |
| Mical2 |
G |
A |
7: 112,345,282 (GRCm38) |
A940T |
probably benign |
Het |
| Mrpl4 |
A |
G |
9: 21,003,371 (GRCm38) |
E81G |
possibly damaging |
Het |
| Mtcl1 |
A |
G |
17: 66,379,514 (GRCm38) |
V447A |
probably benign |
Het |
| Mtor |
C |
A |
4: 148,553,089 (GRCm38) |
N2502K |
probably benign |
Het |
| Notch4 |
G |
A |
17: 34,580,962 (GRCm38) |
D966N |
probably benign |
Het |
| Oip5 |
C |
A |
2: 119,611,790 (GRCm38) |
K214N |
probably benign |
Het |
| Or8a1b |
A |
T |
9: 37,711,970 (GRCm38) |
F103Y |
possibly damaging |
Het |
| Pabir2 |
T |
A |
X: 53,254,056 (GRCm38) |
Q201H |
probably benign |
Het |
| Pak5 |
A |
T |
2: 136,087,509 (GRCm38) |
S585T |
probably benign |
Het |
| Pard3 |
T |
A |
8: 127,447,812 (GRCm38) |
|
probably null |
Het |
| Pcnx2 |
A |
T |
8: 125,807,996 (GRCm38) |
|
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,515,192 (GRCm38) |
Y939C |
possibly damaging |
Het |
| Pde1a |
A |
G |
2: 79,898,064 (GRCm38) |
|
probably null |
Het |
| Pde9a |
C |
T |
17: 31,455,120 (GRCm38) |
P60S |
probably damaging |
Het |
| Pikfyve |
C |
A |
1: 65,258,798 (GRCm38) |
T1562K |
probably benign |
Het |
| Plekhg6 |
A |
T |
6: 125,375,839 (GRCm38) |
M115K |
probably damaging |
Het |
| Pogz |
C |
T |
3: 94,878,849 (GRCm38) |
T863I |
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,754,994 (GRCm38) |
W85R |
probably damaging |
Het |
| Rnf123 |
C |
A |
9: 108,061,791 (GRCm38) |
R826L |
probably damaging |
Het |
| Slc1a6 |
T |
A |
10: 78,812,924 (GRCm38) |
V493E |
probably damaging |
Het |
| Slc22a2 |
A |
G |
17: 12,586,812 (GRCm38) |
D150G |
probably damaging |
Het |
| Snap47 |
C |
T |
11: 59,428,333 (GRCm38) |
|
probably benign |
Het |
| Spata22 |
A |
G |
11: 73,340,559 (GRCm38) |
D213G |
probably benign |
Het |
| St6galnac2 |
T |
A |
11: 116,690,315 (GRCm38) |
R60S |
probably benign |
Het |
| Stk32c |
A |
G |
7: 139,121,447 (GRCm38) |
F263S |
probably damaging |
Het |
| Supt6 |
T |
C |
11: 78,232,540 (GRCm38) |
I104V |
possibly damaging |
Het |
| Tex2 |
T |
C |
11: 106,546,876 (GRCm38) |
E158G |
possibly damaging |
Het |
| Tiam2 |
C |
T |
17: 3,415,135 (GRCm38) |
R380C |
probably damaging |
Het |
| Trim25 |
C |
T |
11: 89,015,581 (GRCm38) |
T410I |
probably benign |
Het |
| Usp18 |
T |
A |
6: 121,262,117 (GRCm38) |
C212S |
probably benign |
Het |
| Vmn1r2 |
A |
G |
4: 3,172,588 (GRCm38) |
Y169C |
probably damaging |
Het |
| Wdr33 |
A |
T |
18: 31,906,856 (GRCm38) |
|
probably benign |
Het |
| Xpr1 |
A |
G |
1: 155,283,256 (GRCm38) |
Y597H |
probably benign |
Het |
| Yy1 |
CGGG |
CGGGGGGGGG |
12: 108,793,990 (GRCm38) |
|
probably benign |
Het |
| Zfp54 |
T |
A |
17: 21,434,142 (GRCm38) |
Y299* |
probably null |
Het |
| Zfp566 |
T |
G |
7: 30,078,502 (GRCm38) |
S85R |
probably benign |
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 |
|
|
R1146:Ccdc150
|
UTSW |
1 |
54,364,971 (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 |
|
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'- TGACAAGGTGCACGGATAGC -3'
(R):5'- CGGTGAGAAGGCTTCTGTAG -3'
Sequencing Primer
(F):5'- CAGGAGCCTGCATGTGTC -3'
(R):5'- CTTCTGTAGTTTGGAGCAGAGAAGC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation