Incidental Mutation 'IGL03114:Ccdc7a'
ID |
419313 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc7a
|
Ensembl Gene |
ENSMUSG00000025808 |
Gene Name |
coiled-coil domain containing 7A |
Synonyms |
4930540C21Rik, 4930517G15Rik, Ccdc7 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
IGL03114
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
129460715-129791973 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 129753170 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 187
(N187S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092780
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095158]
[ENSMUST00000125112]
[ENSMUST00000214889]
|
AlphaFold |
Q9D541 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095158
AA Change: N187S
PolyPhen 2
Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000092780 Gene: ENSMUSG00000025808 AA Change: N187S
Domain | Start | End | E-Value | Type |
Pfam:BioT2
|
1 |
166 |
3e-79 |
PFAM |
SCOP:d1sig__
|
191 |
370 |
1e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125112
AA Change: N187S
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000117961 Gene: ENSMUSG00000025808 AA Change: N187S
Domain | Start | End | E-Value | Type |
Pfam:BioT2
|
1 |
166 |
4.3e-83 |
PFAM |
SCOP:d1sig__
|
191 |
333 |
9e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214889
AA Change: N187S
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
A |
T |
3: 59,651,144 (GRCm39) |
I89F |
possibly damaging |
Het |
Abca13 |
T |
A |
11: 9,478,999 (GRCm39) |
H4282Q |
probably benign |
Het |
Acta2 |
A |
G |
19: 34,222,310 (GRCm39) |
|
probably null |
Het |
Arl10 |
A |
G |
13: 54,723,579 (GRCm39) |
|
probably benign |
Het |
Avpr1a |
A |
G |
10: 122,285,623 (GRCm39) |
Y305C |
probably damaging |
Het |
Bmpr2 |
T |
A |
1: 59,906,603 (GRCm39) |
N565K |
probably damaging |
Het |
Boc |
A |
T |
16: 44,307,115 (GRCm39) |
S1035R |
probably benign |
Het |
Brd10 |
A |
T |
19: 29,694,532 (GRCm39) |
S1654T |
probably benign |
Het |
Cntn5 |
C |
T |
9: 9,748,457 (GRCm39) |
E680K |
probably damaging |
Het |
Copa |
T |
A |
1: 171,946,835 (GRCm39) |
Y1014* |
probably null |
Het |
Csmd3 |
A |
G |
15: 47,683,847 (GRCm39) |
S1662P |
probably damaging |
Het |
Cyp2e1 |
T |
C |
7: 140,353,042 (GRCm39) |
F360L |
possibly damaging |
Het |
Efnb3 |
A |
T |
11: 69,447,628 (GRCm39) |
|
probably benign |
Het |
Egf |
A |
T |
3: 129,530,529 (GRCm39) |
L211Q |
probably damaging |
Het |
Eno1 |
G |
A |
4: 150,325,583 (GRCm39) |
R56H |
probably benign |
Het |
Fyb2 |
A |
G |
4: 104,852,975 (GRCm39) |
T552A |
probably damaging |
Het |
Git2 |
G |
A |
5: 114,871,918 (GRCm39) |
|
probably benign |
Het |
Gtf2ird2 |
A |
G |
5: 134,245,752 (GRCm39) |
|
probably null |
Het |
Hyal4 |
A |
T |
6: 24,755,964 (GRCm39) |
I61L |
probably benign |
Het |
Kat14 |
T |
C |
2: 144,217,885 (GRCm39) |
|
probably null |
Het |
Kif13b |
T |
C |
14: 65,025,897 (GRCm39) |
V1418A |
probably benign |
Het |
Lcn12 |
T |
C |
2: 25,383,274 (GRCm39) |
K35E |
probably benign |
Het |
Lyrm7 |
G |
T |
11: 54,741,198 (GRCm39) |
N45K |
possibly damaging |
Het |
Mical2 |
G |
T |
7: 111,996,764 (GRCm39) |
G559V |
probably damaging |
Het |
Mtrr |
A |
T |
13: 68,712,441 (GRCm39) |
C648* |
probably null |
Het |
Muc5b |
C |
A |
7: 141,412,556 (GRCm39) |
S1834* |
probably null |
Het |
Mup16 |
G |
A |
4: 61,436,250 (GRCm39) |
T101M |
probably benign |
Het |
Myof |
A |
T |
19: 37,892,309 (GRCm39) |
L1148Q |
probably damaging |
Het |
Nags |
A |
T |
11: 102,039,814 (GRCm39) |
I501F |
probably damaging |
Het |
Nbeal1 |
A |
T |
1: 60,317,886 (GRCm39) |
Y672F |
probably damaging |
Het |
Ncapg2 |
A |
G |
12: 116,415,993 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
G |
11: 58,891,365 (GRCm39) |
S7056P |
unknown |
Het |
Or52s1 |
T |
C |
7: 102,861,928 (GRCm39) |
I287T |
probably damaging |
Het |
Pde2a |
C |
A |
7: 101,157,890 (GRCm39) |
|
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,163,343 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
C |
A |
1: 20,268,395 (GRCm39) |
D3328Y |
probably damaging |
Het |
Plxdc2 |
T |
C |
2: 16,654,935 (GRCm39) |
V178A |
probably damaging |
Het |
Prdx3 |
T |
C |
19: 60,861,556 (GRCm39) |
|
probably benign |
Het |
Prkce |
T |
A |
17: 86,961,983 (GRCm39) |
D694E |
probably damaging |
Het |
Prss1l |
T |
A |
6: 41,374,012 (GRCm39) |
C205S |
probably damaging |
Het |
Ptdss1 |
T |
A |
13: 67,142,058 (GRCm39) |
Y405* |
probably null |
Het |
Rad54l |
A |
T |
4: 115,955,729 (GRCm39) |
W608R |
probably damaging |
Het |
Rassf6 |
G |
T |
5: 90,756,649 (GRCm39) |
|
probably benign |
Het |
Sema5a |
A |
T |
15: 32,673,573 (GRCm39) |
I804F |
probably damaging |
Het |
Slc15a2 |
A |
T |
16: 36,572,267 (GRCm39) |
I668N |
probably damaging |
Het |
Thsd7b |
A |
G |
1: 130,116,288 (GRCm39) |
E1347G |
probably benign |
Het |
Tmco3 |
T |
C |
8: 13,348,205 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,551,996 (GRCm39) |
M31214V |
probably null |
Het |
Uck1 |
G |
A |
2: 32,148,334 (GRCm39) |
R161C |
probably benign |
Het |
Ugt2b5 |
T |
C |
5: 87,276,209 (GRCm39) |
Y355C |
probably damaging |
Het |
Usp48 |
C |
A |
4: 137,383,436 (GRCm39) |
T1031K |
probably damaging |
Het |
Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
Vmn1r202 |
T |
A |
13: 22,685,500 (GRCm39) |
|
probably benign |
Het |
Vmn2r90 |
T |
C |
17: 17,953,771 (GRCm39) |
I645T |
probably damaging |
Het |
Vps18 |
T |
C |
2: 119,124,132 (GRCm39) |
V353A |
possibly damaging |
Het |
Vwf |
C |
T |
6: 125,576,326 (GRCm39) |
Q469* |
probably null |
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 |
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 |
R8372:Ccdc7a
|
UTSW |
8 |
129,547,585 (GRCm39) |
missense |
possibly damaging |
0.82 |
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 |
|
Posted On |
2016-08-02 |