Incidental Mutation 'IGL02648:Ccdc14'
| ID |
302009 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc14
|
| Ensembl Gene |
ENSMUSG00000022833 |
| Gene Name |
coiled-coil domain containing 14 |
| Synonyms |
G630039H03Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.471)
|
| Stock # |
IGL02648
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
34510986-34545572 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34517528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 70
(L70S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023532]
[ENSMUST00000231609]
|
| AlphaFold |
Q8K2J4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023532
AA Change: L118S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023532
Gene: ENSMUSG00000022833
AA Change: L118S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
|
Pfam:CCDC14
|
96 |
934 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231364
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231609
AA Change: L70S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232489
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
A |
T |
4: 144,344,392 (GRCm39) |
|
probably null |
Het |
| Acp4 |
A |
G |
7: 43,904,414 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,659,738 (GRCm39) |
M1997K |
probably benign |
Het |
| Arhgdib |
T |
C |
6: 136,910,647 (GRCm39) |
D38G |
probably damaging |
Het |
| Bbox1 |
T |
G |
2: 110,135,871 (GRCm39) |
D36A |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,734,457 (GRCm39) |
K104R |
probably damaging |
Het |
| Cacna1i |
G |
A |
15: 80,182,839 (GRCm39) |
C75Y |
probably damaging |
Het |
| Ccdc88a |
T |
G |
11: 29,451,051 (GRCm39) |
V1580G |
probably benign |
Het |
| Cdadc1 |
C |
A |
14: 59,823,812 (GRCm39) |
D227Y |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,242,976 (GRCm39) |
Y1415C |
probably damaging |
Het |
| Cngb3 |
A |
G |
4: 19,428,489 (GRCm39) |
N493S |
probably benign |
Het |
| Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,303 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
C |
T |
12: 16,758,683 (GRCm39) |
V678M |
probably damaging |
Het |
| Gucy2c |
G |
A |
6: 136,706,211 (GRCm39) |
R497* |
probably null |
Het |
| Itgad |
T |
C |
7: 127,782,546 (GRCm39) |
|
probably benign |
Het |
| Lgr4 |
C |
A |
2: 109,842,718 (GRCm39) |
T877K |
probably damaging |
Het |
| Lrig3 |
A |
G |
10: 125,802,463 (GRCm39) |
D40G |
probably benign |
Het |
| Myo3b |
T |
C |
2: 69,935,716 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
G |
2: 52,161,093 (GRCm39) |
Y2193H |
possibly damaging |
Het |
| Or4b1 |
T |
A |
2: 89,979,697 (GRCm39) |
I218F |
possibly damaging |
Het |
| Or8b3b |
T |
C |
9: 38,584,312 (GRCm39) |
M143V |
probably benign |
Het |
| Pard6b |
A |
G |
2: 167,940,847 (GRCm39) |
Q278R |
probably benign |
Het |
| Pate10 |
A |
T |
9: 35,652,405 (GRCm39) |
M21L |
probably benign |
Het |
| Pkd2l1 |
T |
C |
19: 44,143,975 (GRCm39) |
Y366C |
possibly damaging |
Het |
| Prl2c1 |
A |
G |
13: 28,041,542 (GRCm39) |
D188G |
probably benign |
Het |
| Prl3a1 |
G |
T |
13: 27,454,218 (GRCm39) |
M65I |
probably benign |
Het |
| Psg26 |
T |
A |
7: 18,216,691 (GRCm39) |
E49D |
probably benign |
Het |
| Rapgef3 |
G |
A |
15: 97,656,273 (GRCm39) |
R38W |
probably damaging |
Het |
| Rrn3 |
T |
C |
16: 13,629,453 (GRCm39) |
F590L |
probably benign |
Het |
| Serpina12 |
T |
C |
12: 104,004,267 (GRCm39) |
K122E |
probably benign |
Het |
| Slc39a6 |
T |
C |
18: 24,715,424 (GRCm39) |
I699V |
probably damaging |
Het |
| Tmem259 |
G |
A |
10: 79,813,651 (GRCm39) |
P443S |
probably damaging |
Het |
| Vmn1r75 |
T |
A |
7: 11,615,091 (GRCm39) |
F274L |
probably benign |
Het |
|
| Other mutations in Ccdc14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01364:Ccdc14
|
APN |
16 |
34,543,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02338:Ccdc14
|
APN |
16 |
34,542,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02494:Ccdc14
|
APN |
16 |
34,543,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0632:Ccdc14
|
UTSW |
16 |
34,542,019 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1199:Ccdc14
|
UTSW |
16 |
34,544,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Ccdc14
|
UTSW |
16 |
34,527,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1469:Ccdc14
|
UTSW |
16 |
34,527,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2012:Ccdc14
|
UTSW |
16 |
34,511,092 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2087:Ccdc14
|
UTSW |
16 |
34,516,015 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2337:Ccdc14
|
UTSW |
16 |
34,525,388 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2504:Ccdc14
|
UTSW |
16 |
34,542,220 (GRCm39) |
nonsense |
probably null |
|
|
R3155:Ccdc14
|
UTSW |
16 |
34,544,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Ccdc14
|
UTSW |
16 |
34,526,865 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4645:Ccdc14
|
UTSW |
16 |
34,542,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4835:Ccdc14
|
UTSW |
16 |
34,525,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5186:Ccdc14
|
UTSW |
16 |
34,541,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5214:Ccdc14
|
UTSW |
16 |
34,525,225 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5319:Ccdc14
|
UTSW |
16 |
34,543,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5921:Ccdc14
|
UTSW |
16 |
34,526,761 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5945:Ccdc14
|
UTSW |
16 |
34,543,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6141:Ccdc14
|
UTSW |
16 |
34,526,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6662:Ccdc14
|
UTSW |
16 |
34,511,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6925:Ccdc14
|
UTSW |
16 |
34,511,119 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6958:Ccdc14
|
UTSW |
16 |
34,511,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6970:Ccdc14
|
UTSW |
16 |
34,529,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:Ccdc14
|
UTSW |
16 |
34,543,989 (GRCm39) |
nonsense |
probably null |
|
|
R7845:Ccdc14
|
UTSW |
16 |
34,535,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7889:Ccdc14
|
UTSW |
16 |
34,544,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7903:Ccdc14
|
UTSW |
16 |
34,525,280 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8093:Ccdc14
|
UTSW |
16 |
34,530,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8207:Ccdc14
|
UTSW |
16 |
34,525,413 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8368:Ccdc14
|
UTSW |
16 |
34,543,742 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9060:Ccdc14
|
UTSW |
16 |
34,517,486 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9128:Ccdc14
|
UTSW |
16 |
34,527,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9163:Ccdc14
|
UTSW |
16 |
34,511,118 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9294:Ccdc14
|
UTSW |
16 |
34,517,728 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9318:Ccdc14
|
UTSW |
16 |
34,525,288 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9659:Ccdc14
|
UTSW |
16 |
34,541,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9781:Ccdc14
|
UTSW |
16 |
34,543,984 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1088:Ccdc14
|
UTSW |
16 |
34,511,174 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
Z1176:Ccdc14
|
UTSW |
16 |
34,526,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ccdc14
|
UTSW |
16 |
34,544,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation