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: 0.070)
|
| 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 |
Incidental Mutation