Incidental Mutation 'IGL02117:Ccdc154'
ID |
280428 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc154
|
Ensembl Gene |
ENSMUSG00000059562 |
Gene Name |
coiled-coil domain containing 154 |
Synonyms |
ntl, LOC207209 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
IGL02117
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
25381435-25390887 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 25386792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138090
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073277]
[ENSMUST00000182292]
[ENSMUST00000182621]
[ENSMUST00000183178]
|
AlphaFold |
Q6RUT8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073277
AA Change: V298A
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000073002 Gene: ENSMUSG00000059562 AA Change: V298A
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
33 |
N/A |
INTRINSIC |
Pfam:DUF4631
|
48 |
578 |
1.4e-263 |
PFAM |
low complexity region
|
631 |
642 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000182292
|
SMART Domains |
Protein: ENSMUSP00000138191 Gene: ENSMUSG00000059562
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
33 |
N/A |
INTRINSIC |
Pfam:DUF4631
|
47 |
571 |
1.3e-250 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000182621
|
SMART Domains |
Protein: ENSMUSP00000138090 Gene: ENSMUSG00000059562
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
33 |
N/A |
INTRINSIC |
Pfam:DUF4631
|
47 |
573 |
2.9e-252 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183178
|
SMART Domains |
Protein: ENSMUSP00000138659 Gene: ENSMUSG00000059562
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
33 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
T |
A |
2: 151,315,466 (GRCm39) |
M71L |
probably benign |
Het |
Abcb11 |
A |
G |
2: 69,154,169 (GRCm39) |
|
probably benign |
Het |
Ago4 |
T |
C |
4: 126,410,645 (GRCm39) |
T249A |
probably benign |
Het |
Ahr |
A |
T |
12: 35,562,922 (GRCm39) |
C92* |
probably null |
Het |
Arhgap17 |
G |
A |
7: 122,885,996 (GRCm39) |
|
probably benign |
Het |
Arid1a |
G |
T |
4: 133,420,126 (GRCm39) |
T992K |
unknown |
Het |
Camk2a |
A |
G |
18: 61,111,061 (GRCm39) |
I83M |
probably damaging |
Het |
Chtf18 |
T |
C |
17: 25,941,177 (GRCm39) |
H607R |
possibly damaging |
Het |
Col25a1 |
T |
C |
3: 130,313,422 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
C |
T |
1: 24,276,574 (GRCm39) |
Q530* |
probably null |
Het |
Cryl1 |
G |
T |
14: 57,523,904 (GRCm39) |
D219E |
probably damaging |
Het |
Cul3 |
A |
T |
1: 80,300,781 (GRCm39) |
|
probably benign |
Het |
Cul9 |
C |
A |
17: 46,851,301 (GRCm39) |
R373L |
probably benign |
Het |
Exo1 |
A |
G |
1: 175,721,309 (GRCm39) |
Y316C |
possibly damaging |
Het |
Fam114a1 |
G |
A |
5: 65,187,465 (GRCm39) |
V408M |
probably benign |
Het |
Hmcn2 |
A |
T |
2: 31,347,185 (GRCm39) |
S4792C |
possibly damaging |
Het |
Hps5 |
A |
G |
7: 46,432,940 (GRCm39) |
F260S |
probably damaging |
Het |
Hrh4 |
T |
C |
18: 13,155,477 (GRCm39) |
S339P |
probably benign |
Het |
Ist1 |
A |
T |
8: 110,405,584 (GRCm39) |
L152Q |
probably damaging |
Het |
Marco |
A |
G |
1: 120,418,683 (GRCm39) |
V190A |
probably benign |
Het |
Mdn1 |
T |
C |
4: 32,709,364 (GRCm39) |
V1711A |
probably benign |
Het |
Mmp9 |
A |
G |
2: 164,791,644 (GRCm39) |
Y179C |
probably damaging |
Het |
Mrgprb5 |
A |
G |
7: 47,818,742 (GRCm39) |
|
probably benign |
Het |
Mrgprx1 |
G |
T |
7: 47,671,371 (GRCm39) |
C125* |
probably null |
Het |
Msh6 |
A |
G |
17: 88,298,234 (GRCm39) |
|
probably benign |
Het |
Myot |
C |
A |
18: 44,488,177 (GRCm39) |
R441S |
probably benign |
Het |
Or11g7 |
A |
G |
14: 50,691,399 (GRCm39) |
R297G |
possibly damaging |
Het |
Paf1 |
A |
G |
7: 28,098,115 (GRCm39) |
|
probably benign |
Het |
Pde11a |
A |
G |
2: 75,821,606 (GRCm39) |
L891P |
probably damaging |
Het |
Prkar2a |
T |
A |
9: 108,596,460 (GRCm39) |
I135N |
probably damaging |
Het |
Rap1gap |
C |
T |
4: 137,454,355 (GRCm39) |
T646M |
probably damaging |
Het |
Rgs7bp |
T |
C |
13: 105,088,087 (GRCm39) |
D229G |
possibly damaging |
Het |
Rhobtb3 |
C |
T |
13: 76,025,547 (GRCm39) |
S523N |
probably damaging |
Het |
Setd7 |
A |
T |
3: 51,428,826 (GRCm39) |
Y335N |
probably damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Socs4 |
T |
C |
14: 47,528,264 (GRCm39) |
Y400H |
probably damaging |
Het |
Spag16 |
A |
T |
1: 69,909,479 (GRCm39) |
H192L |
probably damaging |
Het |
Ssh1 |
A |
T |
5: 114,084,541 (GRCm39) |
C566* |
probably null |
Het |
Stap1 |
T |
G |
5: 86,234,552 (GRCm39) |
I98S |
possibly damaging |
Het |
Tgs1 |
C |
T |
4: 3,585,836 (GRCm39) |
H238Y |
probably damaging |
Het |
Tifab |
T |
C |
13: 56,324,275 (GRCm39) |
Y56C |
probably benign |
Het |
Tssk2 |
A |
G |
16: 17,717,653 (GRCm39) |
E352G |
probably benign |
Het |
Vmn2r57 |
A |
T |
7: 41,049,874 (GRCm39) |
V625D |
probably benign |
Het |
Wbp1l |
T |
C |
19: 46,632,876 (GRCm39) |
Y75H |
probably benign |
Het |
Wnt5a |
T |
C |
14: 28,228,077 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ccdc154 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02427:Ccdc154
|
APN |
17 |
25,390,731 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL03188:Ccdc154
|
APN |
17 |
25,383,067 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0256:Ccdc154
|
UTSW |
17 |
25,389,606 (GRCm39) |
missense |
probably benign |
0.19 |
R0328:Ccdc154
|
UTSW |
17 |
25,390,779 (GRCm39) |
missense |
probably benign |
0.25 |
R0583:Ccdc154
|
UTSW |
17 |
25,387,398 (GRCm39) |
missense |
possibly damaging |
0.60 |
R0671:Ccdc154
|
UTSW |
17 |
25,386,259 (GRCm39) |
splice site |
probably benign |
|
R0898:Ccdc154
|
UTSW |
17 |
25,383,055 (GRCm39) |
splice site |
probably benign |
|
R1758:Ccdc154
|
UTSW |
17 |
25,382,156 (GRCm39) |
missense |
probably damaging |
0.99 |
R2165:Ccdc154
|
UTSW |
17 |
25,389,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R2169:Ccdc154
|
UTSW |
17 |
25,389,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R4810:Ccdc154
|
UTSW |
17 |
25,382,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R4853:Ccdc154
|
UTSW |
17 |
25,389,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R4959:Ccdc154
|
UTSW |
17 |
25,389,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R4973:Ccdc154
|
UTSW |
17 |
25,389,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R5040:Ccdc154
|
UTSW |
17 |
25,383,566 (GRCm39) |
missense |
probably benign |
0.04 |
R5153:Ccdc154
|
UTSW |
17 |
25,387,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R5179:Ccdc154
|
UTSW |
17 |
25,390,137 (GRCm39) |
missense |
probably benign |
0.43 |
R5709:Ccdc154
|
UTSW |
17 |
25,389,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R5852:Ccdc154
|
UTSW |
17 |
25,382,183 (GRCm39) |
missense |
probably benign |
|
R5886:Ccdc154
|
UTSW |
17 |
25,390,792 (GRCm39) |
missense |
probably benign |
|
R6191:Ccdc154
|
UTSW |
17 |
25,386,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R7101:Ccdc154
|
UTSW |
17 |
25,382,442 (GRCm39) |
missense |
probably benign |
0.00 |
R7888:Ccdc154
|
UTSW |
17 |
25,383,578 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7896:Ccdc154
|
UTSW |
17 |
25,390,800 (GRCm39) |
missense |
probably benign |
0.00 |
R8331:Ccdc154
|
UTSW |
17 |
25,386,927 (GRCm39) |
missense |
probably benign |
0.29 |
R8334:Ccdc154
|
UTSW |
17 |
25,390,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R8845:Ccdc154
|
UTSW |
17 |
25,390,138 (GRCm39) |
missense |
probably damaging |
0.98 |
R8880:Ccdc154
|
UTSW |
17 |
25,389,129 (GRCm39) |
missense |
probably benign |
0.04 |
R9040:Ccdc154
|
UTSW |
17 |
25,382,793 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9153:Ccdc154
|
UTSW |
17 |
25,382,152 (GRCm39) |
missense |
probably damaging |
0.99 |
R9262:Ccdc154
|
UTSW |
17 |
25,389,160 (GRCm39) |
missense |
probably damaging |
0.97 |
R9564:Ccdc154
|
UTSW |
17 |
25,387,381 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9621:Ccdc154
|
UTSW |
17 |
25,386,355 (GRCm39) |
missense |
probably damaging |
1.00 |
R9654:Ccdc154
|
UTSW |
17 |
25,386,684 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Posted On |
2015-04-16 |