Incidental Mutation 'IGL01973:Ccdc150'
| ID |
182618 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc150
|
| Ensembl Gene |
ENSMUSG00000025983 |
| Gene Name |
coiled-coil domain containing 150 |
| Synonyms |
4930511H11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL01973
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
54289842-54407886 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 54339647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027128]
[ENSMUST00000160472]
|
| AlphaFold |
Q8CDI7 |
| Predicted Effect |
probably null
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 |
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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
A |
G |
12: 17,061,172 (GRCm39) |
W59R |
probably damaging |
Het |
| Adam17 |
C |
T |
12: 21,399,944 (GRCm39) |
R154K |
probably damaging |
Het |
| Ajm1 |
G |
T |
2: 25,469,584 (GRCm39) |
S109* |
probably null |
Het |
| Atp9b |
A |
T |
18: 80,801,518 (GRCm39) |
F791I |
probably benign |
Het |
| Atr |
T |
G |
9: 95,753,727 (GRCm39) |
S776R |
probably damaging |
Het |
| AW554918 |
A |
T |
18: 25,553,056 (GRCm39) |
T487S |
probably damaging |
Het |
| Bckdhb |
T |
A |
9: 83,873,789 (GRCm39) |
F217Y |
probably benign |
Het |
| Cacna1i |
G |
A |
15: 80,266,234 (GRCm39) |
A1574T |
probably damaging |
Het |
| Clca4c-ps |
A |
T |
3: 144,585,593 (GRCm39) |
|
noncoding transcript |
Het |
| Clec4a1 |
T |
C |
6: 122,907,680 (GRCm39) |
S123P |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,940,093 (GRCm39) |
Y1279C |
probably damaging |
Het |
| Cox8c |
T |
A |
12: 102,865,626 (GRCm39) |
M1K |
probably null |
Het |
| Crat |
G |
T |
2: 30,295,493 (GRCm39) |
S370Y |
probably damaging |
Het |
| Cts7 |
A |
T |
13: 61,503,414 (GRCm39) |
D183E |
probably benign |
Het |
| Cyp1a2 |
C |
A |
9: 57,589,678 (GRCm39) |
W45C |
probably damaging |
Het |
| Eml5 |
T |
A |
12: 98,829,539 (GRCm39) |
I492L |
probably benign |
Het |
| Fbxl4 |
T |
G |
4: 22,422,766 (GRCm39) |
L456R |
probably damaging |
Het |
| Flt1 |
G |
T |
5: 147,620,699 (GRCm39) |
H148Q |
probably benign |
Het |
| Galnt3 |
T |
C |
2: 65,914,606 (GRCm39) |
M604V |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,518,731 (GRCm39) |
V279A |
probably damaging |
Het |
| Heatr1 |
C |
A |
13: 12,444,680 (GRCm39) |
H1543Q |
probably benign |
Het |
| Ighg2b |
C |
T |
12: 113,271,305 (GRCm39) |
V83I |
unknown |
Het |
| Jcad |
A |
G |
18: 4,675,514 (GRCm39) |
Q1092R |
probably benign |
Het |
| Kirrel3 |
A |
G |
9: 34,927,764 (GRCm39) |
E6G |
probably damaging |
Het |
| Klhl22 |
A |
G |
16: 17,610,575 (GRCm39) |
S609G |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,904,021 (GRCm39) |
Y346C |
probably damaging |
Het |
| Maneal |
T |
C |
4: 124,752,948 (GRCm39) |
D233G |
probably benign |
Het |
| Mcm3ap |
T |
C |
10: 76,306,951 (GRCm39) |
S355P |
probably benign |
Het |
| Mtus2 |
C |
T |
5: 148,240,286 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,575,383 (GRCm39) |
T1380A |
probably benign |
Het |
| Nedd4 |
T |
A |
9: 72,644,216 (GRCm39) |
M661K |
possibly damaging |
Het |
| Nomo1 |
T |
C |
7: 45,732,651 (GRCm39) |
|
probably benign |
Het |
| Ntmt2 |
A |
G |
1: 163,544,689 (GRCm39) |
I98T |
probably benign |
Het |
| Ntsr2 |
T |
A |
12: 16,706,775 (GRCm39) |
W268R |
probably benign |
Het |
| Nup188 |
A |
C |
2: 30,229,862 (GRCm39) |
Q1360P |
possibly damaging |
Het |
| Or2c1 |
A |
T |
16: 3,657,641 (GRCm39) |
Q268L |
probably damaging |
Het |
| Or6k6 |
A |
G |
1: 173,945,099 (GRCm39) |
F161S |
probably damaging |
Het |
| Pabpc1 |
A |
T |
15: 36,599,519 (GRCm39) |
V392E |
probably benign |
Het |
| Pcdhb11 |
C |
A |
18: 37,556,565 (GRCm39) |
R632S |
probably damaging |
Het |
| Phf11 |
A |
G |
14: 59,488,578 (GRCm39) |
V73A |
probably benign |
Het |
| Pnpla6 |
T |
A |
8: 3,567,619 (GRCm39) |
M87K |
probably damaging |
Het |
| Prkd1 |
C |
T |
12: 50,413,162 (GRCm39) |
G670R |
probably damaging |
Het |
| Raf1 |
G |
A |
6: 115,653,530 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
T |
A |
3: 78,999,116 (GRCm39) |
|
probably null |
Het |
| Rnf215 |
A |
T |
11: 4,086,615 (GRCm39) |
H164L |
probably damaging |
Het |
| Slc24a3 |
T |
C |
2: 145,086,947 (GRCm39) |
V19A |
probably benign |
Het |
| Tbc1d16 |
A |
T |
11: 119,047,533 (GRCm39) |
V396E |
probably benign |
Het |
| Tecpr1 |
T |
C |
5: 144,134,806 (GRCm39) |
|
probably benign |
Het |
| Thap12 |
T |
A |
7: 98,365,706 (GRCm39) |
Y625N |
possibly damaging |
Het |
| Tshz2 |
A |
T |
2: 169,726,603 (GRCm39) |
M400L |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,372,101 (GRCm39) |
Y850C |
possibly damaging |
Het |
| Ugt1a7c |
A |
G |
1: 88,022,856 (GRCm39) |
D5G |
probably benign |
Het |
| Vmn2r10 |
C |
T |
5: 109,143,543 (GRCm39) |
M802I |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,391,973 (GRCm39) |
Y220H |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,673,825 (GRCm39) |
M1625K |
probably damaging |
Het |
| Zfp677 |
T |
A |
17: 21,617,169 (GRCm39) |
N75K |
probably damaging |
Het |
| Zzz3 |
T |
C |
3: 152,134,007 (GRCm39) |
V355A |
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 |
|
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 |
|
R9576:Ccdc150
|
UTSW |
1 |
54,407,544 (GRCm39) |
nonsense |
probably null |
|
|
R9747:Ccdc150
|
UTSW |
1 |
54,299,107 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation