Incidental Mutation 'R1199:Ccdc14'
ID |
101253 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc14
|
Ensembl Gene |
ENSMUSG00000022833 |
Gene Name |
coiled-coil domain containing 14 |
Synonyms |
G630039H03Rik |
MMRRC Submission |
039269-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.471)
|
Stock # |
R1199 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
34510986-34545572 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 34544198 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 852
(T852M)
|
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: T900M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023532 Gene: ENSMUSG00000022833 AA Change: T900M
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: T852M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.1587 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.5%
|
Validation Efficiency |
96% (55/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700102P08Rik |
A |
T |
9: 108,270,676 (GRCm39) |
H80L |
possibly damaging |
Het |
A1bg |
A |
T |
15: 60,791,484 (GRCm39) |
|
probably null |
Het |
Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
Agrn |
T |
A |
4: 156,256,756 (GRCm39) |
Y1283F |
probably benign |
Het |
Akap6 |
T |
C |
12: 52,842,973 (GRCm39) |
V107A |
probably damaging |
Het |
Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
Btnl9 |
A |
T |
11: 49,071,574 (GRCm39) |
V83E |
probably damaging |
Het |
Camk2a |
T |
A |
18: 61,085,396 (GRCm39) |
C131* |
probably null |
Het |
Cntn4 |
T |
C |
6: 106,330,558 (GRCm39) |
|
probably benign |
Het |
Cp |
T |
G |
3: 20,031,316 (GRCm39) |
S585R |
probably damaging |
Het |
Cpt1b |
G |
A |
15: 89,303,213 (GRCm39) |
A614V |
probably benign |
Het |
Crygn |
T |
C |
5: 24,956,146 (GRCm39) |
Y153C |
probably damaging |
Het |
Dennd1a |
A |
T |
2: 37,851,728 (GRCm39) |
D53E |
probably damaging |
Het |
Deptor |
T |
C |
15: 55,115,406 (GRCm39) |
C357R |
probably benign |
Het |
Dnajc28 |
C |
A |
16: 91,415,530 (GRCm39) |
|
probably benign |
Het |
Eml6 |
G |
A |
11: 29,705,044 (GRCm39) |
A1500V |
possibly damaging |
Het |
Fgd5 |
T |
A |
6: 91,963,959 (GRCm39) |
L64Q |
possibly damaging |
Het |
Fgfbp1 |
A |
G |
5: 44,136,939 (GRCm39) |
Y118H |
probably damaging |
Het |
Ftcd |
G |
A |
10: 76,415,653 (GRCm39) |
R135H |
probably damaging |
Het |
Gm5174 |
A |
T |
10: 86,493,189 (GRCm39) |
|
noncoding transcript |
Het |
Gpr37l1 |
A |
T |
1: 135,094,710 (GRCm39) |
L178Q |
probably damaging |
Het |
Gtf2ird1 |
A |
G |
5: 134,439,918 (GRCm39) |
V104A |
possibly damaging |
Het |
Irs1 |
T |
A |
1: 82,267,347 (GRCm39) |
S290C |
probably damaging |
Het |
Kel |
C |
T |
6: 41,665,525 (GRCm39) |
V532I |
possibly damaging |
Het |
Kif1c |
A |
G |
11: 70,599,427 (GRCm39) |
E442G |
possibly damaging |
Het |
Klhdc10 |
T |
A |
6: 30,449,493 (GRCm39) |
V185D |
probably damaging |
Het |
Lpp |
C |
T |
16: 24,500,610 (GRCm39) |
R141C |
probably damaging |
Het |
Or52a5 |
A |
T |
7: 103,427,192 (GRCm39) |
M120K |
probably damaging |
Het |
Or5m13 |
A |
G |
2: 85,748,379 (GRCm39) |
I37V |
probably benign |
Het |
Pcnx2 |
G |
T |
8: 126,614,053 (GRCm39) |
P466H |
possibly damaging |
Het |
Pcsk1 |
A |
T |
13: 75,244,532 (GRCm39) |
|
probably benign |
Het |
Pkd2l2 |
T |
C |
18: 34,571,269 (GRCm39) |
|
probably null |
Het |
Pomt1 |
A |
G |
2: 32,140,504 (GRCm39) |
N454S |
probably benign |
Het |
Samhd1 |
A |
T |
2: 156,951,381 (GRCm39) |
I452N |
probably damaging |
Het |
Sez6 |
A |
G |
11: 77,844,711 (GRCm39) |
Q178R |
probably benign |
Het |
Slc25a44 |
A |
G |
3: 88,328,293 (GRCm39) |
V66A |
probably damaging |
Het |
Slc46a2 |
T |
C |
4: 59,914,189 (GRCm39) |
T245A |
probably benign |
Het |
Slc4a4 |
G |
A |
5: 89,363,653 (GRCm39) |
|
probably null |
Het |
Spata6 |
T |
A |
4: 111,656,342 (GRCm39) |
C329S |
possibly damaging |
Het |
Srrm2 |
A |
T |
17: 24,036,725 (GRCm39) |
|
probably benign |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Svil |
T |
A |
18: 5,059,217 (GRCm39) |
|
probably benign |
Het |
Tenm3 |
G |
T |
8: 48,688,617 (GRCm39) |
S2323R |
probably damaging |
Het |
Tsc1 |
G |
A |
2: 28,555,638 (GRCm39) |
R245Q |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,739,100 (GRCm39) |
V3813A |
probably benign |
Het |
Ttn |
G |
A |
2: 76,780,388 (GRCm39) |
T1121M |
possibly damaging |
Het |
Ush2a |
G |
A |
1: 188,491,992 (GRCm39) |
V3094I |
probably benign |
Het |
Vcan |
A |
G |
13: 89,827,913 (GRCm39) |
|
probably null |
Het |
Vmn1r189 |
A |
T |
13: 22,286,828 (GRCm39) |
L3Q |
probably damaging |
Het |
Vmn1r60 |
A |
C |
7: 5,547,971 (GRCm39) |
V43G |
probably damaging |
Het |
Vmn2r110 |
A |
G |
17: 20,803,525 (GRCm39) |
I350T |
probably benign |
Het |
Vmn2r86 |
T |
A |
10: 130,284,443 (GRCm39) |
|
probably benign |
Het |
Xrn1 |
A |
G |
9: 95,863,814 (GRCm39) |
|
probably benign |
Het |
Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTGGTAAGATCCCTGCTGCTGC -3'
(R):5'- CATCGACAGCCCTAGCTTGTAACAC -3'
Sequencing Primer
(F):5'- CTGCTGAGCACGCAAAG -3'
(R):5'- GTGAGGAACTCTCTGTGAAACTC -3'
|
Posted On |
2014-01-15 |