Incidental Mutation 'IGL03188:Ccdc154'
ID |
412543 |
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 # |
IGL03188
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
25381435-25390887 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to T
at 25383067 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138090
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040729]
[ENSMUST00000073277]
[ENSMUST00000160961]
[ENSMUST00000182292]
[ENSMUST00000182621]
[ENSMUST00000183178]
|
AlphaFold |
Q6RUT8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040729
|
SMART Domains |
Protein: ENSMUSP00000035964 Gene: ENSMUSG00000036636
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
74 |
N/A |
INTRINSIC |
Pfam:Voltage_CLC
|
183 |
594 |
1.5e-96 |
PFAM |
CBS
|
632 |
687 |
8.38e-4 |
SMART |
CBS
|
742 |
790 |
1.77e-11 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000073277
|
SMART Domains |
Protein: ENSMUSP00000073002 Gene: ENSMUSG00000059562
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 |
noncoding transcript
Transcript: ENSMUST00000159426
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160961
|
SMART Domains |
Protein: ENSMUSP00000124194 Gene: ENSMUSG00000036636
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
25 |
N/A |
INTRINSIC |
low complexity region
|
40 |
54 |
N/A |
INTRINSIC |
Pfam:Voltage_CLC
|
163 |
574 |
1.5e-93 |
PFAM |
CBS
|
612 |
667 |
8.38e-4 |
SMART |
CBS
|
722 |
770 |
1.77e-11 |
SMART |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts18 |
C |
A |
8: 114,425,656 (GRCm39) |
C1202F |
probably damaging |
Het |
Ago2 |
C |
T |
15: 72,995,182 (GRCm39) |
V466I |
probably benign |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Aptx |
A |
T |
4: 40,695,143 (GRCm39) |
|
probably null |
Het |
Aurka |
A |
T |
2: 172,205,688 (GRCm39) |
D123E |
possibly damaging |
Het |
Btaf1 |
T |
C |
19: 36,926,508 (GRCm39) |
I60T |
possibly damaging |
Het |
Cct5 |
T |
C |
15: 31,598,148 (GRCm39) |
N55S |
probably benign |
Het |
Cntnap3 |
A |
G |
13: 64,929,559 (GRCm39) |
S547P |
probably damaging |
Het |
Efl1 |
T |
A |
7: 82,320,909 (GRCm39) |
I114N |
probably damaging |
Het |
Gprin1 |
T |
C |
13: 54,886,465 (GRCm39) |
D603G |
probably benign |
Het |
Il16 |
A |
G |
7: 83,337,371 (GRCm39) |
S115P |
probably benign |
Het |
Kalrn |
C |
A |
16: 34,134,562 (GRCm39) |
V401L |
probably benign |
Het |
Kcnq4 |
T |
A |
4: 120,561,623 (GRCm39) |
K482I |
possibly damaging |
Het |
L3mbtl3 |
C |
T |
10: 26,218,515 (GRCm39) |
A114T |
unknown |
Het |
Lig1 |
G |
A |
7: 13,045,032 (GRCm39) |
|
probably benign |
Het |
Lnx1 |
G |
A |
5: 74,780,924 (GRCm39) |
T199M |
probably damaging |
Het |
Mapk13 |
A |
G |
17: 28,995,557 (GRCm39) |
|
probably benign |
Het |
Mfsd2b |
A |
T |
12: 4,916,538 (GRCm39) |
|
probably null |
Het |
Mrpl3 |
A |
G |
9: 104,934,264 (GRCm39) |
D137G |
probably benign |
Het |
Muc15 |
A |
G |
2: 110,562,044 (GRCm39) |
D160G |
probably benign |
Het |
Myh4 |
T |
C |
11: 67,137,369 (GRCm39) |
|
probably null |
Het |
Nipa2 |
T |
G |
7: 55,582,680 (GRCm39) |
N355T |
probably benign |
Het |
Or11h4 |
A |
T |
14: 50,974,315 (GRCm39) |
Y101* |
probably null |
Het |
Or2v2 |
T |
C |
11: 49,004,536 (GRCm39) |
N6D |
probably damaging |
Het |
Or51a43 |
A |
G |
7: 103,717,945 (GRCm39) |
S98P |
possibly damaging |
Het |
Or5p60 |
T |
C |
7: 107,723,841 (GRCm39) |
T210A |
probably benign |
Het |
Pfkm |
G |
T |
15: 98,021,124 (GRCm39) |
|
probably null |
Het |
Ppip5k1 |
A |
G |
2: 121,157,327 (GRCm39) |
|
probably benign |
Het |
Ppp1r18 |
A |
G |
17: 36,178,857 (GRCm39) |
D244G |
possibly damaging |
Het |
Rimoc1 |
A |
G |
15: 4,018,187 (GRCm39) |
Y163H |
probably damaging |
Het |
Scn2a |
T |
C |
2: 65,501,997 (GRCm39) |
S107P |
probably damaging |
Het |
Scn5a |
A |
T |
9: 119,351,632 (GRCm39) |
I783N |
probably damaging |
Het |
Snx1 |
A |
G |
9: 66,001,734 (GRCm39) |
W307R |
probably damaging |
Het |
Spata31g1 |
A |
G |
4: 42,971,225 (GRCm39) |
Y186C |
possibly damaging |
Het |
Stk11ip |
G |
A |
1: 75,511,079 (GRCm39) |
V928M |
probably benign |
Het |
Tgm4 |
A |
G |
9: 122,874,101 (GRCm39) |
M114V |
probably null |
Het |
Trpm2 |
G |
A |
10: 77,754,743 (GRCm39) |
R1248C |
probably benign |
Het |
Txnrd1 |
T |
C |
10: 82,720,880 (GRCm39) |
I347T |
possibly damaging |
Het |
Unc5a |
A |
G |
13: 55,147,316 (GRCm39) |
S106G |
probably damaging |
Het |
Vmn2r85 |
T |
C |
10: 130,254,612 (GRCm39) |
M691V |
probably benign |
Het |
Zfp58 |
T |
A |
13: 67,639,528 (GRCm39) |
Q321L |
probably benign |
Het |
|
Other mutations in Ccdc154 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02117:Ccdc154
|
APN |
17 |
25,386,792 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02427:Ccdc154
|
APN |
17 |
25,390,731 (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 |
2016-08-02 |