Incidental Mutation 'R6906:Ccdc7a'
| ID |
538781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc7a
|
| Ensembl Gene |
ENSMUSG00000025808 |
| Gene Name |
coiled-coil domain containing 7A |
| Synonyms |
4930540C21Rik, 4930517G15Rik, Ccdc7 |
| MMRRC Submission |
044998-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R6906 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
129460715-129791973 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 129662162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 547
(V547L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000214889]
|
| AlphaFold |
Q9D541 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000214889
AA Change: V547L
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
| Validation Efficiency |
98% (45/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
A |
G |
5: 24,773,840 (GRCm39) |
F350L |
possibly damaging |
Het |
| Ahnak2 |
T |
A |
12: 112,748,933 (GRCm39) |
T305S |
probably benign |
Het |
| Anp32a |
A |
G |
9: 62,284,851 (GRCm39) |
|
probably benign |
Het |
| Aplf |
A |
G |
6: 87,607,068 (GRCm39) |
S449P |
possibly damaging |
Het |
| Arl6ip4 |
A |
G |
5: 124,254,614 (GRCm39) |
R36G |
possibly damaging |
Het |
| Ascc1 |
G |
A |
10: 59,840,674 (GRCm39) |
D12N |
probably benign |
Het |
| Bin1 |
C |
A |
18: 32,554,978 (GRCm39) |
H243Q |
probably benign |
Het |
| Ccdc168 |
C |
T |
1: 44,095,173 (GRCm39) |
S1975N |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,702,302 (GRCm39) |
N1207K |
probably benign |
Het |
| Coro7 |
C |
A |
16: 4,451,168 (GRCm39) |
R507L |
probably benign |
Het |
| Crtap |
T |
A |
9: 114,210,700 (GRCm39) |
K291N |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,710,569 (GRCm39) |
T1569A |
probably benign |
Het |
| Dmrta1 |
A |
G |
4: 89,580,203 (GRCm39) |
T388A |
probably benign |
Het |
| Ehd3 |
T |
C |
17: 74,137,333 (GRCm39) |
F501L |
probably damaging |
Het |
| Fbn2 |
A |
C |
18: 58,204,891 (GRCm39) |
L1184R |
possibly damaging |
Het |
| Fhip1b |
G |
A |
7: 105,037,476 (GRCm39) |
T369I |
probably damaging |
Het |
| Hsf1 |
T |
C |
15: 76,361,919 (GRCm39) |
|
probably null |
Het |
| Hycc1 |
A |
T |
5: 24,204,956 (GRCm39) |
W12R |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,762,437 (GRCm39) |
H810R |
possibly damaging |
Het |
| Lrp5 |
A |
T |
19: 3,672,638 (GRCm39) |
I557N |
probably damaging |
Het |
| Lypd1 |
T |
C |
1: 125,838,196 (GRCm39) |
E41G |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,724,853 (GRCm39) |
Y443C |
probably damaging |
Het |
| Muc2 |
A |
G |
7: 141,284,976 (GRCm39) |
D871G |
probably damaging |
Het |
| Nup85 |
T |
A |
11: 115,471,769 (GRCm39) |
Y198N |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,923,744 (GRCm39) |
M6578L |
possibly damaging |
Het |
| Or8h7 |
T |
C |
2: 86,721,091 (GRCm39) |
T143A |
probably benign |
Het |
| Osbpl5 |
G |
C |
7: 143,248,065 (GRCm39) |
Q667E |
probably damaging |
Het |
| Ovgp1 |
T |
A |
3: 105,894,189 (GRCm39) |
|
probably benign |
Het |
| Prl8a2 |
T |
A |
13: 27,532,900 (GRCm39) |
N37K |
probably benign |
Het |
| Ptprf |
A |
T |
4: 118,126,474 (GRCm39) |
I93N |
possibly damaging |
Het |
| Rnf112 |
T |
C |
11: 61,341,215 (GRCm39) |
S457G |
probably null |
Het |
| Sema3e |
A |
G |
5: 14,290,601 (GRCm39) |
D562G |
probably damaging |
Het |
| Sesn3 |
A |
G |
9: 14,236,937 (GRCm39) |
M472V |
probably damaging |
Het |
| Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
| Shc3 |
T |
C |
13: 51,620,595 (GRCm39) |
T144A |
probably damaging |
Het |
| Sis |
A |
G |
3: 72,826,818 (GRCm39) |
L1287P |
probably damaging |
Het |
| Srrm2 |
C |
T |
17: 24,039,337 (GRCm39) |
P2090S |
probably damaging |
Het |
| Syne2 |
T |
G |
12: 76,042,760 (GRCm39) |
D3910E |
possibly damaging |
Het |
| Tcaim |
C |
T |
9: 122,663,839 (GRCm39) |
T443I |
probably benign |
Het |
| Tex19.1 |
T |
C |
11: 121,037,948 (GRCm39) |
V102A |
probably benign |
Het |
| Tpd52l1 |
T |
G |
10: 31,208,950 (GRCm39) |
T168P |
possibly damaging |
Het |
| Trdn |
G |
A |
10: 33,109,944 (GRCm39) |
C294Y |
probably benign |
Het |
| Trmt1l |
T |
C |
1: 151,327,926 (GRCm39) |
Y479H |
probably benign |
Het |
| Vmn1r171 |
G |
A |
7: 23,331,804 (GRCm39) |
V10I |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,351,128 (GRCm39) |
D80E |
possibly damaging |
Het |
| Zcchc4 |
A |
G |
5: 52,980,976 (GRCm39) |
K473E |
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2018-11-06 |
Incidental Mutation