Incidental Mutation 'R8372:Ccdc7a'
ID |
646494 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc7a
|
Ensembl Gene |
ENSMUSG00000025808 |
Gene Name |
coiled-coil domain containing 7A |
Synonyms |
4930540C21Rik, 4930517G15Rik, Ccdc7 |
MMRRC Submission |
067875-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R8372 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
129460715-129791973 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 129547585 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 1289
(E1289G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149790
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000214889]
|
AlphaFold |
Q9D541 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214889
AA Change: E1289G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
G |
16: 4,682,152 (GRCm39) |
D155G |
probably damaging |
Het |
Adgrg7 |
T |
A |
16: 56,616,114 (GRCm39) |
|
probably benign |
Het |
Agap2 |
T |
C |
10: 126,925,185 (GRCm39) |
S833P |
unknown |
Het |
B4galnt2 |
T |
C |
11: 95,760,106 (GRCm39) |
E307G |
possibly damaging |
Het |
Bcl9l |
A |
G |
9: 44,418,528 (GRCm39) |
M826V |
probably benign |
Het |
C2cd3 |
C |
T |
7: 100,104,487 (GRCm39) |
Q2167* |
probably null |
Het |
Cep290 |
T |
C |
10: 100,385,203 (GRCm39) |
V1893A |
probably benign |
Het |
Clec4g |
T |
C |
8: 3,757,990 (GRCm39) |
|
probably benign |
Het |
Cspg4 |
A |
G |
9: 56,794,479 (GRCm39) |
E738G |
probably damaging |
Het |
Cyth4 |
A |
G |
15: 78,481,335 (GRCm39) |
|
probably benign |
Het |
Dab2 |
A |
C |
15: 6,446,406 (GRCm39) |
S8R |
possibly damaging |
Het |
Dclk3 |
A |
G |
9: 111,314,081 (GRCm39) |
D719G |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,111,514 (GRCm39) |
V2540A |
possibly damaging |
Het |
Elavl1 |
T |
C |
8: 4,339,664 (GRCm39) |
N306S |
probably damaging |
Het |
Ercc6l2 |
T |
C |
13: 64,001,563 (GRCm39) |
V459A |
probably damaging |
Het |
Fcgr2b |
A |
G |
1: 170,793,330 (GRCm39) |
V233A |
probably benign |
Het |
Gfm2 |
T |
C |
13: 97,301,552 (GRCm39) |
S452P |
possibly damaging |
Het |
Gpr15 |
A |
G |
16: 58,538,850 (GRCm39) |
F80L |
probably benign |
Het |
Ighv13-2 |
A |
T |
12: 114,321,681 (GRCm39) |
C19* |
probably null |
Het |
Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
Klhl33 |
C |
T |
14: 51,129,689 (GRCm39) |
R312Q |
probably damaging |
Het |
Klhl9 |
A |
G |
4: 88,639,596 (GRCm39) |
L215P |
probably damaging |
Het |
Krtap20-1 |
G |
C |
16: 88,812,385 (GRCm39) |
G57R |
unknown |
Het |
Or9k2b |
A |
G |
10: 130,016,656 (GRCm39) |
F31S |
probably damaging |
Het |
Parp8 |
T |
A |
13: 116,991,786 (GRCm39) |
Q872H |
probably damaging |
Het |
Plxnb2 |
A |
G |
15: 89,042,696 (GRCm39) |
S1531P |
probably damaging |
Het |
Psg16 |
A |
G |
7: 16,829,240 (GRCm39) |
T275A |
probably benign |
Het |
Ptprk |
A |
G |
10: 28,230,688 (GRCm39) |
T260A |
possibly damaging |
Het |
Rapgef1 |
G |
A |
2: 29,600,243 (GRCm39) |
G655S |
probably damaging |
Het |
Rbm15b |
T |
C |
9: 106,762,762 (GRCm39) |
M19V |
|
Het |
Rbm42 |
A |
G |
7: 30,340,631 (GRCm39) |
S447P |
unknown |
Het |
Rsf1 |
T |
C |
7: 97,311,624 (GRCm39) |
S785P |
|
Het |
Scnn1a |
A |
G |
6: 125,320,681 (GRCm39) |
N578S |
probably damaging |
Het |
Slc39a7 |
T |
C |
17: 34,249,639 (GRCm39) |
N169D |
probably damaging |
Het |
Spp1 |
A |
G |
5: 104,588,122 (GRCm39) |
T175A |
probably benign |
Het |
Tigd5 |
A |
G |
15: 75,782,337 (GRCm39) |
H233R |
probably benign |
Het |
Tmprss3 |
C |
T |
17: 31,403,671 (GRCm39) |
V377I |
probably benign |
Het |
Vmn1r75 |
A |
T |
7: 11,614,657 (GRCm39) |
I130F |
probably benign |
Het |
Xpo4 |
A |
G |
14: 57,835,341 (GRCm39) |
|
probably null |
Het |
Xrn1 |
A |
G |
9: 95,906,166 (GRCm39) |
T1186A |
probably benign |
Het |
Zcchc4 |
T |
C |
5: 52,953,506 (GRCm39) |
Y172H |
probably damaging |
Het |
|
Other mutations in Ccdc7a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00491:Ccdc7a
|
APN |
8 |
129,753,235 (GRCm39) |
splice site |
probably benign |
|
IGL01019:Ccdc7a
|
APN |
8 |
129,788,099 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01553:Ccdc7a
|
APN |
8 |
129,753,072 (GRCm39) |
splice site |
probably benign |
|
IGL01577:Ccdc7a
|
APN |
8 |
129,715,244 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03114:Ccdc7a
|
APN |
8 |
129,753,170 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL03323:Ccdc7a
|
APN |
8 |
129,785,244 (GRCm39) |
missense |
probably benign |
0.02 |
R1517:Ccdc7a
|
UTSW |
8 |
129,788,162 (GRCm39) |
missense |
probably damaging |
0.99 |
R1804:Ccdc7a
|
UTSW |
8 |
129,715,247 (GRCm39) |
nonsense |
probably null |
|
R1957:Ccdc7a
|
UTSW |
8 |
129,706,616 (GRCm39) |
missense |
probably damaging |
0.99 |
R4926:Ccdc7a
|
UTSW |
8 |
129,706,535 (GRCm39) |
intron |
probably benign |
|
R4981:Ccdc7a
|
UTSW |
8 |
129,711,464 (GRCm39) |
missense |
probably benign |
0.35 |
R5193:Ccdc7a
|
UTSW |
8 |
129,715,278 (GRCm39) |
missense |
probably benign |
0.02 |
R5273:Ccdc7a
|
UTSW |
8 |
129,788,090 (GRCm39) |
frame shift |
probably null |
|
R5486:Ccdc7a
|
UTSW |
8 |
129,711,884 (GRCm39) |
missense |
probably damaging |
0.98 |
R5505:Ccdc7a
|
UTSW |
8 |
129,706,655 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5562:Ccdc7a
|
UTSW |
8 |
129,785,266 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5704:Ccdc7a
|
UTSW |
8 |
129,706,577 (GRCm39) |
splice site |
probably benign |
|
R6256:Ccdc7a
|
UTSW |
8 |
129,662,074 (GRCm39) |
splice site |
probably null |
|
R6273:Ccdc7a
|
UTSW |
8 |
129,513,819 (GRCm39) |
missense |
probably damaging |
0.97 |
R6366:Ccdc7a
|
UTSW |
8 |
129,582,473 (GRCm39) |
missense |
unknown |
|
R6455:Ccdc7a
|
UTSW |
8 |
129,559,091 (GRCm39) |
missense |
probably damaging |
0.97 |
R6778:Ccdc7a
|
UTSW |
8 |
129,547,601 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6882:Ccdc7a
|
UTSW |
8 |
129,523,809 (GRCm39) |
intron |
probably benign |
|
R6891:Ccdc7a
|
UTSW |
8 |
129,753,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R6906:Ccdc7a
|
UTSW |
8 |
129,662,162 (GRCm39) |
missense |
unknown |
|
R7028:Ccdc7a
|
UTSW |
8 |
129,608,075 (GRCm39) |
missense |
unknown |
|
R7046:Ccdc7a
|
UTSW |
8 |
129,774,100 (GRCm39) |
missense |
probably damaging |
0.99 |
R7073:Ccdc7a
|
UTSW |
8 |
129,618,866 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7268:Ccdc7a
|
UTSW |
8 |
129,607,633 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7454:Ccdc7a
|
UTSW |
8 |
129,670,997 (GRCm39) |
missense |
unknown |
|
R7643:Ccdc7a
|
UTSW |
8 |
129,616,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R7733:Ccdc7a
|
UTSW |
8 |
129,719,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R7792:Ccdc7a
|
UTSW |
8 |
129,618,918 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7902:Ccdc7a
|
UTSW |
8 |
129,562,654 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7946:Ccdc7a
|
UTSW |
8 |
129,643,627 (GRCm39) |
missense |
probably damaging |
0.97 |
R7983:Ccdc7a
|
UTSW |
8 |
129,607,559 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8032:Ccdc7a
|
UTSW |
8 |
129,551,864 (GRCm39) |
missense |
unknown |
|
R8108:Ccdc7a
|
UTSW |
8 |
129,706,634 (GRCm39) |
missense |
unknown |
|
R8345:Ccdc7a
|
UTSW |
8 |
129,525,245 (GRCm39) |
missense |
probably benign |
0.01 |
R8379:Ccdc7a
|
UTSW |
8 |
129,691,417 (GRCm39) |
missense |
probably benign |
0.03 |
R8472:Ccdc7a
|
UTSW |
8 |
129,754,138 (GRCm39) |
missense |
probably damaging |
0.99 |
R8478:Ccdc7a
|
UTSW |
8 |
129,487,850 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8536:Ccdc7a
|
UTSW |
8 |
129,516,601 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8671:Ccdc7a
|
UTSW |
8 |
129,646,948 (GRCm39) |
missense |
probably damaging |
0.99 |
R8696:Ccdc7a
|
UTSW |
8 |
129,715,244 (GRCm39) |
missense |
probably damaging |
0.96 |
R8813:Ccdc7a
|
UTSW |
8 |
129,549,942 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8859:Ccdc7a
|
UTSW |
8 |
129,788,113 (GRCm39) |
missense |
probably benign |
0.44 |
R9208:Ccdc7a
|
UTSW |
8 |
129,472,482 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9222:Ccdc7a
|
UTSW |
8 |
129,525,610 (GRCm39) |
missense |
unknown |
|
R9262:Ccdc7a
|
UTSW |
8 |
129,486,277 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9299:Ccdc7a
|
UTSW |
8 |
129,616,319 (GRCm39) |
missense |
probably benign |
0.27 |
R9337:Ccdc7a
|
UTSW |
8 |
129,616,319 (GRCm39) |
missense |
probably benign |
0.27 |
R9357:Ccdc7a
|
UTSW |
8 |
129,671,136 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9516:Ccdc7a
|
UTSW |
8 |
129,555,774 (GRCm39) |
missense |
unknown |
|
R9579:Ccdc7a
|
UTSW |
8 |
129,774,134 (GRCm39) |
nonsense |
probably null |
|
R9672:Ccdc7a
|
UTSW |
8 |
129,671,016 (GRCm39) |
missense |
unknown |
|
R9777:Ccdc7a
|
UTSW |
8 |
129,618,860 (GRCm39) |
missense |
possibly damaging |
0.90 |
RF008:Ccdc7a
|
UTSW |
8 |
129,691,434 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Ccdc7a
|
UTSW |
8 |
129,753,144 (GRCm39) |
missense |
probably benign |
0.41 |
Z1177:Ccdc7a
|
UTSW |
8 |
129,534,405 (GRCm39) |
missense |
possibly damaging |
0.66 |
Z1190:Ccdc7a
|
UTSW |
8 |
129,546,376 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTACAGGACAAGCATGGTGGG -3'
(R):5'- GCTGGGCATTAGAGAAGATTGATC -3'
Sequencing Primer
(F):5'- CATGGTGGGCTCATAATATAGGC -3'
(R):5'- ACTGAGAGAATTGGCCTCTTCCAG -3'
|
Posted On |
2020-09-02 |