Incidental Mutation 'R2337:Ccdc14'
ID |
246600 |
Institutional Source |
Beutler Lab
|
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 # |
R2337 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
34510986-34545572 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34525388 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 179
(H179R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156124
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023532]
[ENSMUST00000231609]
|
AlphaFold |
Q8K2J4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023532
AA Change: H227R
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000023532 Gene: ENSMUSG00000022833 AA Change: H227R
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 benign
Transcript: ENSMUST00000231609
AA Change: H179R
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232341
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232489
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
9930111J21Rik2 |
T |
C |
11: 48,911,131 (GRCm39) |
N434S |
probably benign |
Het |
Acaca |
T |
C |
11: 84,148,023 (GRCm39) |
S691P |
possibly damaging |
Het |
Arid5b |
T |
C |
10: 67,933,607 (GRCm39) |
D765G |
possibly damaging |
Het |
Ccdc177 |
C |
T |
12: 80,805,465 (GRCm39) |
A270T |
unknown |
Het |
Cdh16 |
G |
T |
8: 105,348,902 (GRCm39) |
T65K |
probably benign |
Het |
Dag1 |
G |
T |
9: 108,084,596 (GRCm39) |
Y848* |
probably null |
Het |
Dnhd1 |
C |
T |
7: 105,352,674 (GRCm39) |
T2609I |
probably benign |
Het |
Eif1ad5 |
T |
A |
12: 87,946,948 (GRCm39) |
V130E |
unknown |
Het |
Fat4 |
A |
G |
3: 39,034,160 (GRCm39) |
Y2604C |
probably damaging |
Het |
Fhad1 |
T |
C |
4: 141,649,655 (GRCm39) |
D164G |
possibly damaging |
Het |
Fnip1 |
G |
A |
11: 54,366,563 (GRCm39) |
D109N |
probably damaging |
Het |
Gfm1 |
A |
G |
3: 67,342,847 (GRCm39) |
D127G |
probably damaging |
Het |
Gsap |
T |
A |
5: 21,493,628 (GRCm39) |
I755N |
probably damaging |
Het |
Hdgfl2 |
T |
C |
17: 56,403,987 (GRCm39) |
V281A |
possibly damaging |
Het |
Hmg20b |
T |
C |
10: 81,184,347 (GRCm39) |
E50G |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,111,083 (GRCm39) |
D1498G |
probably damaging |
Het |
Poc5 |
T |
C |
13: 96,547,111 (GRCm39) |
V458A |
probably damaging |
Het |
Tada2b |
T |
C |
5: 36,634,258 (GRCm39) |
M107V |
probably benign |
Het |
Tle6 |
T |
C |
10: 81,428,490 (GRCm39) |
|
probably null |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Xkr7 |
G |
A |
2: 152,896,318 (GRCm39) |
V391M |
possibly damaging |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTACACATGAATTTTGACTGGG -3'
(R):5'- CCAGAATGTGGTGTTGCCTG -3'
Sequencing Primer
(F):5'- CACATGAATTTTGACTGGGGAAAC -3'
(R):5'- TGTTGCCTGAGAGCCTACG -3'
|
Posted On |
2014-10-30 |