Incidental Mutation 'R3155:Ccdc14'
| ID |
263478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc14
|
| Ensembl Gene |
ENSMUSG00000022833 |
| Gene Name |
coiled-coil domain containing 14 |
| Synonyms |
G630039H03Rik |
| MMRRC Submission |
040606-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.471)
|
| Stock # |
R3155 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
34510986-34545572 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34544222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 860
(D860G)
|
| 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: D908G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023532
Gene: ENSMUSG00000022833
AA Change: D908G
| 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: D860G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.1411 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
T |
C |
1: 85,859,104 (GRCm39) |
|
probably benign |
Het |
| Aco1 |
T |
C |
4: 40,182,915 (GRCm39) |
V487A |
probably damaging |
Het |
| Adh1 |
A |
G |
3: 137,986,250 (GRCm39) |
E79G |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,821,425 (GRCm39) |
N608S |
probably benign |
Het |
| Ahctf1 |
G |
A |
1: 179,583,148 (GRCm39) |
R43C |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,987,541 (GRCm39) |
I2942L |
possibly damaging |
Het |
| Anxa9 |
A |
T |
3: 95,209,716 (GRCm39) |
D134E |
probably benign |
Het |
| Cdhr3 |
T |
A |
12: 33,099,152 (GRCm39) |
I480F |
possibly damaging |
Het |
| Cldn34a |
C |
T |
X: 151,346,840 (GRCm39) |
H171Y |
probably benign |
Het |
| Cyp2d9 |
T |
A |
15: 82,336,843 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
T |
A |
7: 130,651,887 (GRCm39) |
Y376* |
probably null |
Het |
| Fancm |
T |
C |
12: 65,163,195 (GRCm39) |
I1453T |
probably benign |
Het |
| Fbxw11 |
A |
G |
11: 32,689,244 (GRCm39) |
I456V |
possibly damaging |
Het |
| Fut2 |
A |
T |
7: 45,300,091 (GRCm39) |
L227Q |
probably damaging |
Het |
| Gbp5 |
T |
C |
3: 142,208,888 (GRCm39) |
|
probably null |
Het |
| Glrp1 |
C |
A |
1: 88,430,976 (GRCm39) |
Q131H |
unknown |
Het |
| Gm6871 |
T |
C |
7: 41,223,079 (GRCm39) |
N3S |
probably benign |
Het |
| H2-Eb1 |
C |
A |
17: 34,533,348 (GRCm39) |
T190K |
probably damaging |
Het |
| Kdr |
T |
A |
5: 76,129,065 (GRCm39) |
I194F |
probably benign |
Het |
| Klhdc7a |
A |
G |
4: 139,694,500 (GRCm39) |
V149A |
probably benign |
Het |
| Lrit3 |
A |
G |
3: 129,585,044 (GRCm39) |
F238S |
probably benign |
Het |
| Map10 |
A |
T |
8: 126,398,313 (GRCm39) |
I569F |
possibly damaging |
Het |
| Myh6 |
A |
G |
14: 55,182,125 (GRCm39) |
I1761T |
probably damaging |
Het |
| Npc1l1 |
A |
C |
11: 6,171,840 (GRCm39) |
D874E |
probably benign |
Het |
| Or4k15c |
T |
C |
14: 50,321,982 (GRCm39) |
D52G |
probably benign |
Het |
| Or8c17 |
T |
A |
9: 38,179,836 (GRCm39) |
M1K |
probably null |
Het |
| Pawr |
A |
G |
10: 108,245,370 (GRCm39) |
T193A |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 101,089,559 (GRCm39) |
K255E |
possibly damaging |
Het |
| Rbp3 |
A |
T |
14: 33,679,071 (GRCm39) |
K1006N |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
A |
G |
2: 145,702,771 (GRCm39) |
K489R |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,006,529 (GRCm39) |
V817A |
probably damaging |
Het |
| Rusc1 |
T |
C |
3: 88,999,038 (GRCm39) |
D248G |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Stk4 |
T |
A |
2: 163,993,663 (GRCm39) |
M98K |
probably benign |
Het |
| Taf15 |
T |
A |
11: 83,393,599 (GRCm39) |
H307Q |
probably benign |
Het |
| Urgcp |
A |
T |
11: 5,666,327 (GRCm39) |
F670L |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,959 (GRCm39) |
T673A |
probably damaging |
Het |
| Zfp324 |
G |
A |
7: 12,702,817 (GRCm39) |
M60I |
probably 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 |
|
|
R2337:Ccdc14
|
UTSW |
16 |
34,525,388 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2504:Ccdc14
|
UTSW |
16 |
34,542,220 (GRCm39) |
nonsense |
probably null |
|
|
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'- TGCTGAGCACGCAAAGGAAC -3'
(R):5'- ACCACAGTACTTGCTCATCTAC -3'
Sequencing Primer
(F):5'- GGAACAGGCCACACATCATGG -3'
(R):5'- CTCAGCAACTGTTGGTTTTTAAAAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation