Incidental Mutation 'R7046:Ccdc7a'
ID |
547324 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc7a
|
Ensembl Gene |
ENSMUSG00000025808 |
Gene Name |
coiled-coil domain containing 7A |
Synonyms |
4930540C21Rik, 4930517G15Rik, Ccdc7 |
MMRRC Submission |
045144-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R7046 (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 129774100 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 145
(E145G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149790
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095158]
[ENSMUST00000108747]
[ENSMUST00000125112]
[ENSMUST00000214889]
|
AlphaFold |
Q9D541 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095158
AA Change: E145G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000092780 Gene: ENSMUSG00000025808 AA Change: E145G
Domain | Start | End | E-Value | Type |
Pfam:BioT2
|
1 |
166 |
3e-79 |
PFAM |
SCOP:d1sig__
|
191 |
370 |
1e-5 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108747
AA Change: E145G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104379 Gene: ENSMUSG00000025808 AA Change: E145G
Domain | Start | End | E-Value | Type |
Pfam:BioT2
|
1 |
155 |
7.3e-70 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000125112
AA Change: E145G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117961 Gene: ENSMUSG00000025808 AA Change: E145G
Domain | Start | End | E-Value | Type |
Pfam:BioT2
|
1 |
166 |
4.3e-83 |
PFAM |
SCOP:d1sig__
|
191 |
333 |
9e-5 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214889
AA Change: E145G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (63/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
T |
C |
7: 45,772,364 (GRCm39) |
Y805C |
probably damaging |
Het |
Aoc1l3 |
T |
A |
6: 48,964,512 (GRCm39) |
D173E |
probably benign |
Het |
Cabp7 |
T |
A |
11: 4,688,886 (GRCm39) |
I195F |
probably damaging |
Het |
Camsap1 |
T |
C |
2: 25,835,201 (GRCm39) |
N317S |
probably damaging |
Het |
Ccdc127 |
T |
G |
13: 74,500,994 (GRCm39) |
L4V |
probably damaging |
Het |
Cdh10 |
T |
A |
15: 19,013,287 (GRCm39) |
V629D |
probably damaging |
Het |
Cdh23 |
A |
C |
10: 60,214,530 (GRCm39) |
L1497R |
probably damaging |
Het |
Chsy3 |
A |
G |
18: 59,542,875 (GRCm39) |
K671R |
probably benign |
Het |
Clca4b |
T |
C |
3: 144,621,367 (GRCm39) |
Y569C |
probably damaging |
Het |
Cnga1 |
T |
C |
5: 72,786,696 (GRCm39) |
|
probably benign |
Het |
Cyp51 |
T |
A |
5: 4,150,188 (GRCm39) |
E178D |
probably damaging |
Het |
Defa30 |
T |
A |
8: 21,625,471 (GRCm39) |
N78K |
probably benign |
Het |
Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
Dnah14 |
G |
T |
1: 181,450,568 (GRCm39) |
C727F |
probably benign |
Het |
Egf |
A |
T |
3: 129,548,607 (GRCm39) |
W3R |
unknown |
Het |
Egfem1 |
G |
A |
3: 29,136,364 (GRCm39) |
|
probably null |
Het |
Epb41l1 |
G |
T |
2: 156,368,812 (GRCm39) |
V682L |
possibly damaging |
Het |
Etv1 |
A |
G |
12: 38,834,369 (GRCm39) |
|
probably null |
Het |
Faap100 |
A |
G |
11: 120,268,200 (GRCm39) |
F191S |
possibly damaging |
Het |
Fmo1 |
T |
A |
1: 162,667,263 (GRCm39) |
D184V |
possibly damaging |
Het |
Ghrl |
A |
G |
6: 113,696,344 (GRCm39) |
L16P |
probably damaging |
Het |
Gria4 |
T |
A |
9: 4,420,278 (GRCm39) |
L861F |
probably damaging |
Het |
Gsr |
T |
A |
8: 34,185,090 (GRCm39) |
M428K |
probably damaging |
Het |
Hspa5 |
C |
T |
2: 34,663,204 (GRCm39) |
P127L |
probably damaging |
Het |
Kbtbd12 |
A |
G |
6: 88,595,497 (GRCm39) |
M111T |
possibly damaging |
Het |
Krtap21-1 |
G |
T |
16: 89,200,623 (GRCm39) |
Y6* |
probably null |
Het |
Lin9 |
A |
G |
1: 180,494,935 (GRCm39) |
D219G |
probably damaging |
Het |
Lrrc38 |
A |
G |
4: 143,076,739 (GRCm39) |
M1V |
probably null |
Het |
Macc1 |
T |
G |
12: 119,410,773 (GRCm39) |
F514V |
probably benign |
Het |
Madcam1 |
C |
T |
10: 79,504,139 (GRCm39) |
R242C |
probably benign |
Het |
Mfhas1 |
T |
C |
8: 36,131,944 (GRCm39) |
S1037P |
probably benign |
Het |
Micall2 |
C |
T |
5: 139,694,699 (GRCm39) |
|
probably benign |
Het |
Mtr |
C |
A |
13: 12,205,095 (GRCm39) |
A1122S |
possibly damaging |
Het |
Muc6 |
T |
A |
7: 141,226,456 (GRCm39) |
|
probably benign |
Het |
Myh15 |
T |
A |
16: 48,929,662 (GRCm39) |
C529* |
probably null |
Het |
Napsa |
T |
C |
7: 44,234,509 (GRCm39) |
V247A |
probably damaging |
Het |
Nr2c2 |
A |
G |
6: 92,135,338 (GRCm39) |
T309A |
probably damaging |
Het |
Or1e26 |
A |
T |
11: 73,480,558 (GRCm39) |
I2K |
probably benign |
Het |
Or1q1 |
T |
A |
2: 36,887,173 (GRCm39) |
V117E |
probably benign |
Het |
Or2n1b |
A |
T |
17: 38,459,691 (GRCm39) |
M71L |
probably benign |
Het |
Osgepl1 |
A |
T |
1: 53,360,710 (GRCm39) |
I384F |
possibly damaging |
Het |
Otud4 |
C |
T |
8: 80,377,671 (GRCm39) |
L111F |
possibly damaging |
Het |
Pds5b |
A |
G |
5: 150,673,385 (GRCm39) |
Y481C |
probably damaging |
Het |
Pdzrn4 |
T |
A |
15: 92,668,303 (GRCm39) |
Y818* |
probably null |
Het |
Pin1rt1 |
T |
C |
2: 104,544,767 (GRCm39) |
S122G |
probably benign |
Het |
Pkdcc |
A |
T |
17: 83,531,687 (GRCm39) |
Y487F |
probably damaging |
Het |
Plxna4 |
C |
T |
6: 32,493,440 (GRCm39) |
C392Y |
probably damaging |
Het |
Psd4 |
T |
G |
2: 24,284,985 (GRCm39) |
M283R |
probably benign |
Het |
Ralgds |
G |
T |
2: 28,430,741 (GRCm39) |
G68W |
probably damaging |
Het |
Rmdn2 |
T |
A |
17: 79,928,808 (GRCm39) |
I20N |
probably damaging |
Het |
Sestd1 |
A |
G |
2: 77,022,910 (GRCm39) |
V486A |
probably benign |
Het |
Skic8 |
T |
A |
9: 54,626,539 (GRCm39) |
D275V |
probably damaging |
Het |
Spmap2 |
G |
T |
10: 79,422,796 (GRCm39) |
D35E |
probably benign |
Het |
Tango6 |
A |
G |
8: 107,533,748 (GRCm39) |
H958R |
possibly damaging |
Het |
Taok3 |
C |
T |
5: 117,411,771 (GRCm39) |
R857C |
probably damaging |
Het |
Tasor |
A |
T |
14: 27,194,392 (GRCm39) |
L1197F |
probably damaging |
Het |
Trio |
T |
C |
15: 27,832,137 (GRCm39) |
E1245G |
probably damaging |
Het |
Usp19 |
C |
T |
9: 108,374,334 (GRCm39) |
H763Y |
possibly damaging |
Het |
Vmn1r185 |
A |
G |
7: 26,310,651 (GRCm39) |
S285P |
probably damaging |
Het |
Vmn1r45 |
T |
G |
6: 89,910,538 (GRCm39) |
Y144S |
probably benign |
Het |
Vwa3b |
G |
A |
1: 37,212,959 (GRCm39) |
E152K |
probably benign |
Het |
Xrcc5 |
G |
A |
1: 72,433,875 (GRCm39) |
M731I |
probably benign |
Het |
Zfp619 |
G |
A |
7: 39,186,787 (GRCm39) |
S939N |
possibly damaging |
Het |
Zfp874a |
C |
A |
13: 67,590,418 (GRCm39) |
C422F |
probably damaging |
Het |
Zfp948 |
A |
G |
17: 21,808,719 (GRCm39) |
D637G |
possibly 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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCAGAAAGTCAATCATAACTGTGC -3'
(R):5'- CACCCAAGTTTGAAGCAGC -3'
Sequencing Primer
(F):5'- GAGGTCATATTTGAAAGTACTC -3'
(R):5'- AAGATTGGTGATGATGTGAG -3'
|
Posted On |
2019-05-13 |