Incidental Mutation 'IGL03278:Ccdc134'
ID |
415491 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc134
|
Ensembl Gene |
ENSMUSG00000068114 |
Gene Name |
coiled-coil domain containing 134 |
Synonyms |
2310042L06Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
IGL03278
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
82012123-82026404 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 82015682 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 54
(A54V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089174]
[ENSMUST00000089178]
[ENSMUST00000186125]
[ENSMUST00000188048]
[ENSMUST00000189540]
[ENSMUST00000229119]
[ENSMUST00000229411]
[ENSMUST00000229597]
[ENSMUST00000229384]
|
AlphaFold |
Q8C7V8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089174
AA Change: A54V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000086578 Gene: ENSMUSG00000068114 AA Change: A54V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:ERK-JNK_inhib
|
23 |
223 |
1.7e-71 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000089178
|
SMART Domains |
Protein: ENSMUSP00000086582 Gene: ENSMUSG00000068117
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
30 |
N/A |
INTRINSIC |
SCOP:d1gw5a_
|
123 |
498 |
1e-3 |
SMART |
low complexity region
|
956 |
966 |
N/A |
INTRINSIC |
low complexity region
|
1025 |
1045 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186125
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188048
|
SMART Domains |
Protein: ENSMUSP00000139689 Gene: ENSMUSG00000068117
Domain | Start | End | E-Value | Type |
low complexity region
|
523 |
536 |
N/A |
INTRINSIC |
low complexity region
|
595 |
615 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189540
|
SMART Domains |
Protein: ENSMUSP00000140479 Gene: ENSMUSG00000068117
Domain | Start | End | E-Value | Type |
low complexity region
|
523 |
536 |
N/A |
INTRINSIC |
low complexity region
|
595 |
615 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229119
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229411
AA Change: A54V
PolyPhen 2
Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229597
AA Change: A54V
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229788
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229384
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230582
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229456
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display embryonic lethality during organogenesis with impaired liver and vascular development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
A |
12: 71,205,599 (GRCm39) |
|
probably benign |
Het |
Acss2 |
A |
G |
2: 155,403,921 (GRCm39) |
D676G |
possibly damaging |
Het |
Antxr1 |
A |
G |
6: 87,181,439 (GRCm39) |
|
probably benign |
Het |
Ccdc40 |
A |
T |
11: 119,133,336 (GRCm39) |
I465F |
probably damaging |
Het |
Cdk5rap1 |
A |
T |
2: 154,212,622 (GRCm39) |
S79T |
probably benign |
Het |
Col6a6 |
T |
C |
9: 105,586,651 (GRCm39) |
E1790G |
probably benign |
Het |
Cops8 |
C |
A |
1: 90,532,087 (GRCm39) |
|
probably null |
Het |
Dnah7a |
T |
C |
1: 53,536,124 (GRCm39) |
T2640A |
probably benign |
Het |
F2 |
G |
A |
2: 91,465,527 (GRCm39) |
A86V |
probably benign |
Het |
Fhip1b |
C |
A |
7: 105,034,331 (GRCm39) |
M433I |
possibly damaging |
Het |
Gabrb1 |
T |
G |
5: 72,026,939 (GRCm39) |
D113E |
probably damaging |
Het |
Git2 |
C |
A |
5: 114,883,640 (GRCm39) |
|
probably benign |
Het |
Git2 |
A |
T |
5: 114,883,641 (GRCm39) |
|
probably null |
Het |
Gm4847 |
A |
T |
1: 166,462,605 (GRCm39) |
I295N |
probably benign |
Het |
H2-M10.6 |
C |
A |
17: 37,124,715 (GRCm39) |
H211N |
probably damaging |
Het |
Hmgcr |
A |
G |
13: 96,793,270 (GRCm39) |
|
probably benign |
Het |
Larp1 |
T |
C |
11: 57,934,882 (GRCm39) |
|
probably benign |
Het |
Lrguk |
A |
G |
6: 34,093,381 (GRCm39) |
E634G |
possibly damaging |
Het |
Nanog |
A |
G |
6: 122,688,704 (GRCm39) |
Y95C |
probably damaging |
Het |
Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
Nfe2l1 |
C |
A |
11: 96,713,018 (GRCm39) |
R55L |
probably benign |
Het |
Or1f19 |
C |
T |
16: 3,410,971 (GRCm39) |
A237V |
possibly damaging |
Het |
Pkmyt1 |
A |
G |
17: 23,953,221 (GRCm39) |
E259G |
probably damaging |
Het |
Pld4 |
A |
G |
12: 112,733,165 (GRCm39) |
N247S |
probably damaging |
Het |
Prdm4 |
A |
T |
10: 85,743,622 (GRCm39) |
M211K |
probably damaging |
Het |
Rab37 |
A |
C |
11: 115,050,517 (GRCm39) |
I121L |
possibly damaging |
Het |
Rabl6 |
T |
C |
2: 25,473,834 (GRCm39) |
|
probably benign |
Het |
Slc34a3 |
A |
T |
2: 25,122,059 (GRCm39) |
V154E |
probably benign |
Het |
Slc38a9 |
T |
G |
13: 112,826,052 (GRCm39) |
|
probably benign |
Het |
Sptlc3 |
G |
A |
2: 139,431,579 (GRCm39) |
G367D |
probably damaging |
Het |
Stk24 |
T |
C |
14: 121,540,182 (GRCm39) |
K139R |
possibly damaging |
Het |
Tacc2 |
T |
C |
7: 130,335,298 (GRCm39) |
|
probably null |
Het |
Tap1 |
A |
T |
17: 34,410,457 (GRCm39) |
K378M |
probably damaging |
Het |
Tfr2 |
A |
T |
5: 137,569,298 (GRCm39) |
R10* |
probably null |
Het |
Trim38 |
A |
G |
13: 23,974,979 (GRCm39) |
D306G |
possibly damaging |
Het |
Ttc6 |
A |
T |
12: 57,668,812 (GRCm39) |
K418I |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,581,313 (GRCm39) |
L3731Q |
probably damaging |
Het |
Vmn2r89 |
A |
T |
14: 51,692,557 (GRCm39) |
Y120F |
probably damaging |
Het |
Vps35 |
A |
T |
8: 86,021,590 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ccdc134 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02746:Ccdc134
|
APN |
15 |
82,015,938 (GRCm39) |
intron |
probably benign |
|
IGL02941:Ccdc134
|
APN |
15 |
82,025,151 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03071:Ccdc134
|
APN |
15 |
82,018,826 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL03308:Ccdc134
|
APN |
15 |
82,015,721 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03014:Ccdc134
|
UTSW |
15 |
82,014,306 (GRCm39) |
missense |
probably damaging |
0.99 |
R0077:Ccdc134
|
UTSW |
15 |
82,015,938 (GRCm39) |
intron |
probably benign |
|
R0243:Ccdc134
|
UTSW |
15 |
82,025,147 (GRCm39) |
missense |
probably damaging |
0.98 |
R1107:Ccdc134
|
UTSW |
15 |
82,018,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R1107:Ccdc134
|
UTSW |
15 |
82,018,892 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1588:Ccdc134
|
UTSW |
15 |
82,019,337 (GRCm39) |
missense |
probably benign |
0.03 |
R3874:Ccdc134
|
UTSW |
15 |
82,015,643 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6696:Ccdc134
|
UTSW |
15 |
82,015,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R7448:Ccdc134
|
UTSW |
15 |
82,025,149 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7814:Ccdc134
|
UTSW |
15 |
82,015,724 (GRCm39) |
missense |
probably damaging |
0.96 |
R8088:Ccdc134
|
UTSW |
15 |
82,015,990 (GRCm39) |
intron |
probably benign |
|
|
Posted On |
2016-08-02 |