Incidental Mutation 'R8108:Ccdc7a'
ID |
630735 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc7a
|
Ensembl Gene |
ENSMUSG00000025808 |
Gene Name |
coiled-coil domain containing 7A |
Synonyms |
4930540C21Rik, 4930517G15Rik, Ccdc7 |
MMRRC Submission |
067537-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R8108 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
129460715-129791973 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 129706634 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 332
(T332A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092780
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095158]
[ENSMUST00000125112]
[ENSMUST00000214889]
|
AlphaFold |
Q9D541 |
Predicted Effect |
unknown
Transcript: ENSMUST00000095158
AA Change: T332A
|
SMART Domains |
Protein: ENSMUSP00000092780 Gene: ENSMUSG00000025808 AA Change: T332A
Domain | Start | End | E-Value | Type |
Pfam:BioT2
|
1 |
166 |
3e-79 |
PFAM |
SCOP:d1sig__
|
191 |
370 |
1e-5 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000125112
AA Change: T332A
|
SMART Domains |
Protein: ENSMUSP00000117961 Gene: ENSMUSG00000025808 AA Change: T332A
Domain | Start | End | E-Value | Type |
Pfam:BioT2
|
1 |
166 |
4.3e-83 |
PFAM |
SCOP:d1sig__
|
191 |
333 |
9e-5 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214889
AA Change: T332A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.0%
- 20x: 97.3%
|
Validation Efficiency |
99% (72/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm4 |
A |
T |
4: 144,397,239 (GRCm39) |
N164K |
probably benign |
Het |
Acot1 |
T |
A |
12: 84,064,135 (GRCm39) |
H414Q |
probably benign |
Het |
Actrt2 |
A |
T |
4: 154,751,493 (GRCm39) |
D214E |
probably benign |
Het |
Afg2a |
T |
C |
3: 37,485,931 (GRCm39) |
S218P |
probably benign |
Het |
Chd9 |
C |
T |
8: 91,659,852 (GRCm39) |
H271Y |
unknown |
Het |
Depdc5 |
T |
G |
5: 33,102,393 (GRCm39) |
D966E |
probably benign |
Het |
Dolpp1 |
A |
G |
2: 30,286,258 (GRCm39) |
Y119C |
probably benign |
Het |
Dscam |
G |
C |
16: 96,445,079 (GRCm39) |
D1537E |
probably benign |
Het |
Dusp16 |
A |
G |
6: 134,716,836 (GRCm39) |
I157T |
probably benign |
Het |
Dyrk2 |
T |
C |
10: 118,695,734 (GRCm39) |
D508G |
probably benign |
Het |
Endov |
T |
C |
11: 119,398,237 (GRCm39) |
V334A |
probably benign |
Het |
Ep400 |
A |
T |
5: 110,835,749 (GRCm39) |
V1956E |
unknown |
Het |
Erich3 |
A |
T |
3: 154,425,752 (GRCm39) |
Y83F |
possibly damaging |
Het |
Fbrsl1 |
T |
C |
5: 110,526,245 (GRCm39) |
|
probably null |
Het |
Gm1110 |
T |
C |
9: 26,831,957 (GRCm39) |
I65V |
probably damaging |
Het |
Gm28374 |
A |
G |
19: 6,132,230 (GRCm39) |
V19A |
|
Het |
Gpr107 |
C |
A |
2: 31,074,881 (GRCm39) |
H336Q |
probably damaging |
Het |
Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
Grm1 |
C |
A |
10: 10,595,876 (GRCm39) |
R584L |
probably benign |
Het |
Gse1 |
T |
C |
8: 120,956,549 (GRCm39) |
S347P |
unknown |
Het |
Ier3ip1 |
T |
A |
18: 77,028,221 (GRCm39) |
I69K |
possibly damaging |
Het |
Impact |
T |
G |
18: 13,117,388 (GRCm39) |
L154V |
probably benign |
Het |
Katnb1 |
T |
C |
8: 95,820,573 (GRCm39) |
F141S |
possibly damaging |
Het |
Kifap3 |
T |
A |
1: 163,624,931 (GRCm39) |
N162K |
probably damaging |
Het |
Klhl5 |
A |
G |
5: 65,305,930 (GRCm39) |
|
probably null |
Het |
Klre1 |
A |
G |
6: 129,561,185 (GRCm39) |
D182G |
probably benign |
Het |
Krt42 |
T |
A |
11: 100,157,783 (GRCm39) |
Y227F |
probably benign |
Het |
Lhcgr |
T |
A |
17: 89,049,478 (GRCm39) |
K683* |
probably null |
Het |
Lrrc37a |
G |
A |
11: 103,393,883 (GRCm39) |
S514F |
probably benign |
Het |
Lrrc9 |
G |
T |
12: 72,500,833 (GRCm39) |
L186F |
probably damaging |
Het |
Metrn |
A |
G |
17: 26,014,004 (GRCm39) |
V274A |
probably benign |
Het |
Mettl25 |
A |
T |
10: 105,659,040 (GRCm39) |
F414L |
possibly damaging |
Het |
Mixl1 |
A |
G |
1: 180,524,267 (GRCm39) |
V104A |
probably damaging |
Het |
Myo9b |
T |
A |
8: 71,800,986 (GRCm39) |
M1047K |
probably damaging |
Het |
Nbea |
G |
A |
3: 55,726,736 (GRCm39) |
A2081V |
probably benign |
Het |
Ndufs1 |
A |
T |
1: 63,189,171 (GRCm39) |
D551E |
possibly damaging |
Het |
Nectin3 |
T |
C |
16: 46,284,484 (GRCm39) |
T67A |
possibly damaging |
Het |
Nme8 |
C |
T |
13: 19,835,130 (GRCm39) |
V519I |
probably benign |
Het |
Npat |
G |
T |
9: 53,482,429 (GRCm39) |
G1379V |
probably benign |
Het |
Obscn |
T |
A |
11: 58,952,460 (GRCm39) |
T3870S |
probably benign |
Het |
Or1e20-ps1 |
T |
A |
11: 73,324,680 (GRCm39) |
H124L |
unknown |
Het |
Or4g7 |
T |
C |
2: 111,309,579 (GRCm39) |
V150A |
possibly damaging |
Het |
Or5g23 |
T |
C |
2: 85,439,093 (GRCm39) |
R54G |
possibly damaging |
Het |
Or5k14 |
T |
C |
16: 58,692,599 (GRCm39) |
M305V |
probably benign |
Het |
Or7h8 |
T |
A |
9: 20,123,747 (GRCm39) |
M34K |
possibly damaging |
Het |
Or8b46 |
A |
G |
9: 38,450,706 (GRCm39) |
N172D |
probably damaging |
Het |
Parp8 |
A |
T |
13: 117,003,609 (GRCm39) |
Y769* |
probably null |
Het |
Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
Pdzd2 |
G |
A |
15: 12,373,592 (GRCm39) |
S2181L |
probably benign |
Het |
Phldb1 |
T |
C |
9: 44,622,458 (GRCm39) |
E65G |
probably damaging |
Het |
Ppif |
C |
T |
14: 25,698,750 (GRCm39) |
T157M |
probably damaging |
Het |
Ppp3ca |
T |
A |
3: 136,637,986 (GRCm39) |
|
probably null |
Het |
Proser1 |
T |
A |
3: 53,379,509 (GRCm39) |
|
probably null |
Het |
Reg3d |
T |
A |
6: 78,353,062 (GRCm39) |
K174* |
probably null |
Het |
Rubcn |
A |
T |
16: 32,677,320 (GRCm39) |
L55Q |
probably damaging |
Het |
Sec14l3 |
T |
C |
11: 4,016,198 (GRCm39) |
L39P |
probably damaging |
Het |
Ska3 |
A |
G |
14: 58,063,559 (GRCm39) |
I4T |
probably damaging |
Het |
Slc30a10 |
A |
G |
1: 185,196,351 (GRCm39) |
I338V |
possibly damaging |
Het |
Slc35g1 |
C |
G |
19: 38,391,277 (GRCm39) |
S186R |
probably damaging |
Het |
Slc35g1 |
T |
A |
19: 38,391,279 (GRCm39) |
L187H |
probably damaging |
Het |
Tbc1d5 |
T |
C |
17: 51,049,114 (GRCm39) |
I659V |
probably benign |
Het |
Tbl3 |
G |
T |
17: 24,919,890 (GRCm39) |
D751E |
probably benign |
Het |
Tdrd3 |
T |
A |
14: 87,723,702 (GRCm39) |
D311E |
possibly damaging |
Het |
Tenm4 |
T |
C |
7: 96,503,935 (GRCm39) |
F1335S |
probably benign |
Het |
Tm2d1 |
A |
T |
4: 98,263,260 (GRCm39) |
C83S |
probably damaging |
Het |
Tnfrsf22 |
A |
T |
7: 143,192,110 (GRCm39) |
V192D |
unknown |
Het |
Trpm6 |
A |
G |
19: 18,789,154 (GRCm39) |
T575A |
probably damaging |
Het |
Uri1 |
T |
C |
7: 37,681,098 (GRCm39) |
D102G |
possibly damaging |
Het |
Vmn2r1 |
T |
A |
3: 64,010,471 (GRCm39) |
C570S |
probably damaging |
Het |
Vps13a |
C |
T |
19: 16,618,151 (GRCm39) |
V2906I |
probably damaging |
Het |
Zfp472 |
T |
C |
17: 33,196,977 (GRCm39) |
Y351H |
possibly damaging |
Het |
Zfp874a |
G |
T |
13: 67,591,353 (GRCm39) |
Y110* |
probably null |
Het |
Zfp986 |
T |
A |
4: 145,625,875 (GRCm39) |
N178K |
probably benign |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAACCCCTTACCTCTTGCAG -3'
(R):5'- GTGCAAGTACTCCCCACTTAAG -3'
Sequencing Primer
(F):5'- ACTCACCATTTCTAATCCTGTAACAG -3'
(R):5'- GTACTCCCCACTTAAGTACAAATAGG -3'
|
Posted On |
2020-06-30 |