Incidental Mutation 'R6141:Ccdc14'
| ID |
488595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc14
|
| Ensembl Gene |
ENSMUSG00000022833 |
| Gene Name |
coiled-coil domain containing 14 |
| Synonyms |
G630039H03Rik |
| MMRRC Submission |
044288-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.474)
|
| Stock # |
R6141 (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 A
at 34526932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 279
(I279N)
|
| 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: I327N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023532
Gene: ENSMUSG00000022833
AA Change: I327N
| 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: I279N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232341
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232489
|
| Meta Mutation Damage Score |
0.2168 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
A |
T |
7: 42,097,483 (GRCm39) |
C4S |
probably damaging |
Het |
| Abhd5 |
A |
T |
9: 122,206,998 (GRCm39) |
T95S |
probably benign |
Het |
| Ambra1 |
A |
T |
2: 91,706,099 (GRCm39) |
N795Y |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,464,102 (GRCm39) |
N1289D |
possibly damaging |
Het |
| Cavin2 |
T |
C |
1: 51,340,097 (GRCm39) |
L258P |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,394,807 (GRCm39) |
T233A |
possibly damaging |
Het |
| Cntn5 |
A |
T |
9: 10,144,162 (GRCm39) |
L169Q |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,458,545 (GRCm39) |
S157G |
possibly damaging |
Het |
| Defb22 |
A |
T |
2: 152,327,722 (GRCm39) |
N154K |
unknown |
Het |
| Eepd1 |
T |
A |
9: 25,394,280 (GRCm39) |
D181E |
probably benign |
Het |
| Etfa |
T |
C |
9: 55,372,103 (GRCm39) |
H286R |
probably damaging |
Het |
| Gm44419 |
T |
A |
6: 65,127,940 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch4 |
C |
T |
3: 87,962,047 (GRCm39) |
R155* |
probably null |
Het |
| Grik1 |
T |
G |
16: 87,693,760 (GRCm39) |
R862S |
probably benign |
Het |
| Hectd1 |
A |
C |
12: 51,792,875 (GRCm39) |
|
probably null |
Het |
| Ift122 |
T |
C |
6: 115,892,972 (GRCm39) |
W919R |
probably damaging |
Het |
| Iqgap2 |
A |
T |
13: 95,858,194 (GRCm39) |
|
probably null |
Het |
| Kcnq4 |
A |
T |
4: 120,573,066 (GRCm39) |
I245N |
probably damaging |
Het |
| Map3k3 |
G |
T |
11: 105,987,874 (GRCm39) |
R21L |
probably benign |
Het |
| Mllt10 |
T |
C |
2: 18,215,604 (GRCm39) |
V1063A |
probably damaging |
Het |
| Msr1 |
A |
T |
8: 40,084,360 (GRCm39) |
V65E |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,113,903 (GRCm39) |
D17V |
probably damaging |
Het |
| Naaladl1 |
T |
A |
19: 6,159,785 (GRCm39) |
|
probably null |
Het |
| Naip6 |
T |
C |
13: 100,444,741 (GRCm39) |
Y239C |
possibly damaging |
Het |
| Nckap1 |
C |
A |
2: 80,360,551 (GRCm39) |
D533Y |
probably damaging |
Het |
| Ndufs2 |
T |
C |
1: 171,064,185 (GRCm39) |
E375G |
probably damaging |
Het |
| Nsd1 |
T |
C |
13: 55,439,097 (GRCm39) |
V1605A |
probably damaging |
Het |
| Or4k42 |
A |
G |
2: 111,320,464 (GRCm39) |
I13T |
probably benign |
Het |
| Or52ae9 |
C |
A |
7: 103,389,994 (GRCm39) |
R151L |
probably damaging |
Het |
| Or5ac17 |
T |
A |
16: 59,036,916 (GRCm39) |
H20L |
probably benign |
Het |
| Or5b114-ps1 |
A |
T |
19: 13,352,647 (GRCm39) |
Y107F |
probably benign |
Het |
| Or7e176 |
T |
A |
9: 20,171,754 (GRCm39) |
M206K |
probably benign |
Het |
| Pcp2 |
G |
A |
8: 3,673,543 (GRCm39) |
|
probably null |
Het |
| Pdgfra |
A |
G |
5: 75,334,057 (GRCm39) |
S377G |
probably damaging |
Het |
| Reep5 |
A |
T |
18: 34,505,511 (GRCm39) |
Y53* |
probably null |
Het |
| Ric1 |
T |
C |
19: 29,572,842 (GRCm39) |
S761P |
probably damaging |
Het |
| Satb1 |
T |
C |
17: 52,082,404 (GRCm39) |
T417A |
possibly damaging |
Het |
| Slc1a7 |
T |
A |
4: 107,859,379 (GRCm39) |
M156K |
possibly damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,041,789 (GRCm39) |
E123G |
probably damaging |
Het |
| Slc66a1 |
A |
G |
4: 139,027,556 (GRCm39) |
V262A |
probably benign |
Het |
| Snupn |
C |
A |
9: 56,890,108 (GRCm39) |
Q310K |
possibly damaging |
Het |
| Stard13 |
A |
T |
5: 150,965,707 (GRCm39) |
V916E |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,082,556 (GRCm39) |
R674G |
possibly damaging |
Het |
| Tnfsf11 |
A |
G |
14: 78,545,299 (GRCm39) |
Y11H |
probably damaging |
Het |
| Tnr |
T |
A |
1: 159,714,692 (GRCm39) |
V857E |
probably benign |
Het |
| Tubgcp5 |
A |
G |
7: 55,456,526 (GRCm39) |
I373V |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,090,160 (GRCm39) |
R414S |
possibly damaging |
Het |
| Vmn2r100 |
T |
C |
17: 19,742,576 (GRCm39) |
S317P |
probably benign |
Het |
| Wdr49 |
A |
T |
3: 75,230,989 (GRCm39) |
F558I |
probably benign |
Het |
| Zfyve16 |
A |
G |
13: 92,648,105 (GRCm39) |
I983T |
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 |
|
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 |
|
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'- CTCACACGTTGAAGGCTTGC -3'
(R):5'- CACATGTGTGCTTAAATGCTTTCC -3'
Sequencing Primer
(F):5'- CTTTAGGAAGTTCAGACTGATGC -3'
(R):5'- AAATGCTTTCCTTCATTTGTGGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation