Incidental Mutation 'IGL02494:Ccdc14'
| ID |
295777 |
| 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 # |
IGL02494
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
34510986-34545572 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34543784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 714
(Y714C)
|
| 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: Y762C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023532
Gene: ENSMUSG00000022833
AA Change: Y762C
| 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: Y714C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldob |
C |
T |
4: 49,541,138 (GRCm39) |
C178Y |
possibly damaging |
Het |
| Arg2 |
A |
G |
12: 79,198,697 (GRCm39) |
R242G |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,973,525 (GRCm39) |
L2528* |
probably null |
Het |
| Astn2 |
T |
A |
4: 65,910,585 (GRCm39) |
M468L |
probably benign |
Het |
| Bglap2 |
A |
T |
3: 88,285,243 (GRCm39) |
C74* |
probably null |
Het |
| Cand1 |
A |
G |
10: 119,049,522 (GRCm39) |
V408A |
probably benign |
Het |
| Ccdc88c |
C |
T |
12: 100,911,734 (GRCm39) |
G707D |
probably benign |
Het |
| Cdk13 |
G |
A |
13: 17,913,710 (GRCm39) |
R890* |
probably null |
Het |
| Cep192 |
A |
G |
18: 67,937,453 (GRCm39) |
E61G |
probably benign |
Het |
| Ctdspl |
T |
C |
9: 118,866,484 (GRCm39) |
L181P |
probably damaging |
Het |
| Dock7 |
C |
T |
4: 98,877,471 (GRCm39) |
V442M |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,408,871 (GRCm39) |
V1860A |
probably damaging |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Fscn2 |
G |
A |
11: 120,253,228 (GRCm39) |
V232M |
probably benign |
Het |
| Gemin5 |
A |
T |
11: 58,012,583 (GRCm39) |
C1458S |
probably benign |
Het |
| Glrb |
A |
G |
3: 80,752,539 (GRCm39) |
V408A |
probably benign |
Het |
| Gtse1 |
C |
T |
15: 85,751,704 (GRCm39) |
P299L |
probably damaging |
Het |
| Hcfc1r1 |
T |
A |
17: 23,893,559 (GRCm39) |
M46K |
probably damaging |
Het |
| Hdc |
A |
G |
2: 126,436,041 (GRCm39) |
F610S |
probably benign |
Het |
| Hip1 |
A |
T |
5: 135,473,645 (GRCm39) |
C224* |
probably null |
Het |
| Hsd17b10 |
G |
T |
X: 150,787,230 (GRCm39) |
A241S |
probably benign |
Het |
| Igsf10 |
G |
T |
3: 59,235,427 (GRCm39) |
Q1585K |
probably damaging |
Het |
| Kat2b |
T |
C |
17: 53,960,233 (GRCm39) |
Y514H |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,862,486 (GRCm39) |
I58M |
probably benign |
Het |
| Lcat |
C |
A |
8: 106,668,571 (GRCm39) |
|
probably benign |
Het |
| Naca |
G |
A |
10: 127,877,179 (GRCm39) |
|
probably benign |
Het |
| Nbea |
T |
C |
3: 55,712,772 (GRCm39) |
K2102E |
probably benign |
Het |
| Ocrl |
G |
A |
X: 47,022,315 (GRCm39) |
D262N |
probably benign |
Het |
| Or1e35 |
A |
C |
11: 73,797,550 (GRCm39) |
I256S |
possibly damaging |
Het |
| Or4b1b |
G |
A |
2: 90,112,295 (GRCm39) |
S208F |
probably benign |
Het |
| Or4n4 |
A |
T |
14: 50,519,683 (GRCm39) |
V9D |
probably damaging |
Het |
| Or7c19 |
C |
A |
8: 85,957,312 (GRCm39) |
L63I |
possibly damaging |
Het |
| Patj |
T |
A |
4: 98,592,224 (GRCm39) |
|
probably benign |
Het |
| Pcdhb17 |
G |
A |
18: 37,618,347 (GRCm39) |
A46T |
possibly damaging |
Het |
| Phf8 |
T |
C |
X: 150,408,227 (GRCm39) |
V859A |
probably benign |
Het |
| Plec |
T |
A |
15: 76,060,979 (GRCm39) |
E3054V |
probably damaging |
Het |
| Prr12 |
C |
A |
7: 44,678,270 (GRCm39) |
K1958N |
unknown |
Het |
| Psmf1 |
A |
G |
2: 151,582,929 (GRCm39) |
|
probably null |
Het |
| Rsu1 |
T |
C |
2: 13,222,002 (GRCm39) |
|
probably null |
Het |
| Samm50 |
T |
C |
15: 84,080,015 (GRCm39) |
V31A |
probably benign |
Het |
| St14 |
A |
G |
9: 31,019,941 (GRCm39) |
V56A |
possibly damaging |
Het |
| Trpc1 |
T |
C |
9: 95,590,360 (GRCm39) |
N699S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,574,144 (GRCm39) |
M25583K |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,585,798 (GRCm39) |
V993A |
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 |
|
IGL02648:Ccdc14
|
APN |
16 |
34,517,528 (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