Incidental Mutation 'R7845:Ccdc14'
ID |
606582 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc14
|
Ensembl Gene |
ENSMUSG00000022833 |
Gene Name |
coiled-coil domain containing 14 |
Synonyms |
G630039H03Rik |
MMRRC Submission |
045899-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.471)
|
Stock # |
R7845 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
34510986-34545572 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34535734 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 495
(L495P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023532
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023532]
[ENSMUST00000231609]
|
AlphaFold |
Q8K2J4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023532
AA Change: L495P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023532 Gene: ENSMUSG00000022833 AA Change: L495P
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
Pfam:CCDC14
|
96 |
934 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231609
AA Change: L447P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
96% (43/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
T |
C |
2: 151,314,229 (GRCm39) |
H483R |
probably damaging |
Het |
Acot2 |
G |
T |
12: 84,039,762 (GRCm39) |
G424* |
probably null |
Het |
Adat2 |
G |
T |
10: 13,428,741 (GRCm39) |
|
probably benign |
Het |
Arhgef18 |
T |
C |
8: 3,436,959 (GRCm39) |
Y250H |
probably damaging |
Het |
Bcl2l2 |
A |
G |
14: 55,122,308 (GRCm39) |
Y157C |
unknown |
Het |
Bglap2 |
T |
A |
3: 88,286,001 (GRCm39) |
|
probably benign |
Het |
Cobl |
T |
C |
11: 12,315,139 (GRCm39) |
D275G |
probably benign |
Het |
Cpne2 |
A |
G |
8: 95,277,832 (GRCm39) |
N72S |
probably benign |
Het |
D7Ertd443e |
A |
G |
7: 133,871,977 (GRCm39) |
F628S |
probably damaging |
Het |
Dars2 |
A |
T |
1: 160,869,318 (GRCm39) |
S644T |
probably benign |
Het |
Depdc5 |
A |
G |
5: 33,061,259 (GRCm39) |
|
probably null |
Het |
Dip2c |
A |
G |
13: 9,659,080 (GRCm39) |
S860G |
probably damaging |
Het |
Dnajc21 |
T |
G |
15: 10,447,227 (GRCm39) |
H507P |
probably damaging |
Het |
Eif2ak2 |
G |
T |
17: 79,171,327 (GRCm39) |
Q359K |
probably damaging |
Het |
Epha8 |
T |
C |
4: 136,663,712 (GRCm39) |
E448G |
probably benign |
Het |
Exoc3l |
G |
C |
8: 106,016,782 (GRCm39) |
S677R |
probably damaging |
Het |
Fads1 |
T |
A |
19: 10,171,405 (GRCm39) |
H345Q |
probably damaging |
Het |
Fam118a |
T |
A |
15: 84,930,052 (GRCm39) |
D93E |
possibly damaging |
Het |
Fam135a |
T |
C |
1: 24,068,738 (GRCm39) |
I710M |
probably benign |
Het |
Fbxw14 |
T |
A |
9: 109,116,671 (GRCm39) |
I13F |
probably damaging |
Het |
Gemin6 |
A |
G |
17: 80,533,090 (GRCm39) |
S8G |
probably benign |
Het |
Ints2 |
A |
T |
11: 86,129,089 (GRCm39) |
M498K |
possibly damaging |
Het |
Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
Mast1 |
C |
A |
8: 85,651,954 (GRCm39) |
E343* |
probably null |
Het |
Micu1 |
T |
C |
10: 59,675,607 (GRCm39) |
|
probably null |
Het |
Mis18bp1 |
A |
G |
12: 65,196,102 (GRCm39) |
I554T |
probably benign |
Het |
Mrps28 |
T |
A |
3: 8,988,775 (GRCm39) |
N28Y |
possibly damaging |
Het |
Mtpap |
T |
A |
18: 4,387,134 (GRCm39) |
S395T |
possibly damaging |
Het |
Muc16 |
A |
T |
9: 18,552,069 (GRCm39) |
H4741Q |
probably benign |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Or13p8 |
T |
C |
4: 118,584,158 (GRCm39) |
M238T |
probably benign |
Het |
Or4k44 |
C |
A |
2: 111,368,512 (GRCm39) |
G41* |
probably null |
Het |
Or51f23 |
G |
A |
7: 102,453,492 (GRCm39) |
R269Q |
not run |
Het |
Ptx4 |
T |
C |
17: 25,343,928 (GRCm39) |
Y393H |
possibly damaging |
Het |
Ranbp2 |
G |
A |
10: 58,282,844 (GRCm39) |
V15M |
probably damaging |
Het |
Rbp3 |
G |
T |
14: 33,678,421 (GRCm39) |
A790S |
probably benign |
Het |
Rfx6 |
T |
A |
10: 51,554,122 (GRCm39) |
S73T |
probably benign |
Het |
Sec14l3 |
T |
A |
11: 4,017,972 (GRCm39) |
M84K |
probably benign |
Het |
Sec23b |
T |
A |
2: 144,401,316 (GRCm39) |
V59E |
possibly damaging |
Het |
Slc2a1 |
T |
C |
4: 118,993,125 (GRCm39) |
V425A |
possibly damaging |
Het |
Stab2 |
A |
T |
10: 86,832,758 (GRCm39) |
V89D |
probably benign |
Het |
Stra8 |
A |
G |
6: 34,907,899 (GRCm39) |
D117G |
probably benign |
Het |
Syt17 |
A |
T |
7: 118,009,194 (GRCm39) |
I338N |
possibly damaging |
Het |
Tas2r136 |
T |
A |
6: 132,754,833 (GRCm39) |
Y98F |
probably benign |
Het |
Tsks |
C |
A |
7: 44,603,168 (GRCm39) |
|
probably null |
Het |
Wdr62 |
A |
G |
7: 29,964,667 (GRCm39) |
V359A |
possibly damaging |
Het |
Xrcc6 |
T |
C |
15: 81,900,678 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TGCCCCTGTTAACAGTTGGG -3'
(R):5'- CCCGACTATTTAAGATATCTGCACAC -3'
Sequencing Primer
(F):5'- CCCCTGTTAACAGTTGGGGTTTG -3'
(R):5'- TAGGGGCTTACTACAGACAGTTC -3'
|
Posted On |
2019-12-20 |