Incidental Mutation 'R7643:Ccdc7a'
ID |
590356 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc7a
|
Ensembl Gene |
ENSMUSG00000025808 |
Gene Name |
coiled-coil domain containing 7A |
Synonyms |
4930540C21Rik, 4930517G15Rik, Ccdc7 |
MMRRC Submission |
045700-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R7643 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
129460715-129791973 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 129616292 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Glutamic Acid
at position 937
(G937E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149790
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000214889]
|
AlphaFold |
Q9D541 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214889
AA Change: G937E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406C07Rik |
A |
G |
9: 15,209,156 (GRCm39) |
F46S |
probably damaging |
Het |
Acaca |
T |
C |
11: 84,229,182 (GRCm39) |
Y1670H |
probably damaging |
Het |
Acrbp |
G |
A |
6: 125,030,795 (GRCm39) |
R272Q |
possibly damaging |
Het |
Adcy6 |
T |
A |
15: 98,491,449 (GRCm39) |
Q1050L |
probably benign |
Het |
Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
Ankrd13b |
A |
G |
11: 77,363,911 (GRCm39) |
V395A |
probably benign |
Het |
Ap3b2 |
T |
C |
7: 81,126,820 (GRCm39) |
K310R |
probably benign |
Het |
Bnc2 |
T |
C |
4: 84,424,811 (GRCm39) |
D123G |
probably benign |
Het |
Bst1 |
G |
A |
5: 43,997,791 (GRCm39) |
M263I |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,373,415 (GRCm39) |
M1232V |
probably benign |
Het |
Cfhr1 |
A |
G |
1: 139,481,323 (GRCm39) |
Y186H |
possibly damaging |
Het |
Dnah7c |
A |
T |
1: 46,641,973 (GRCm39) |
H1203L |
probably benign |
Het |
Emc7 |
A |
G |
2: 112,285,624 (GRCm39) |
E71G |
probably benign |
Het |
Exoc3l4 |
G |
A |
12: 111,388,369 (GRCm39) |
|
probably benign |
Het |
Fam83c |
A |
G |
2: 155,672,924 (GRCm39) |
F278L |
possibly damaging |
Het |
Gabpb2 |
C |
A |
3: 95,107,536 (GRCm39) |
V180L |
probably benign |
Het |
Gbp2b |
G |
T |
3: 142,309,370 (GRCm39) |
Q160H |
probably benign |
Het |
Gm19965 |
C |
G |
1: 116,749,959 (GRCm39) |
Q547E |
unknown |
Het |
Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
Gon4l |
T |
A |
3: 88,810,114 (GRCm39) |
D1774E |
probably damaging |
Het |
Gpr15 |
A |
C |
16: 58,538,179 (GRCm39) |
Y303* |
probably null |
Het |
Greb1 |
T |
C |
12: 16,761,997 (GRCm39) |
D461G |
probably damaging |
Het |
Gria4 |
T |
C |
9: 4,793,950 (GRCm39) |
N36S |
probably benign |
Het |
Hacd1 |
T |
C |
2: 14,049,602 (GRCm39) |
I119V |
probably damaging |
Het |
Ing5 |
T |
A |
1: 93,740,155 (GRCm39) |
D101E |
probably damaging |
Het |
Irak4 |
T |
A |
15: 94,456,709 (GRCm39) |
N297K |
probably benign |
Het |
Itga7 |
A |
G |
10: 128,789,370 (GRCm39) |
D971G |
probably benign |
Het |
Klf5 |
A |
G |
14: 99,550,614 (GRCm39) |
E397G |
possibly damaging |
Het |
Krtap29-1 |
C |
T |
11: 99,869,024 (GRCm39) |
G286S |
probably damaging |
Het |
Lrp2bp |
A |
T |
8: 46,473,564 (GRCm39) |
|
probably null |
Het |
Marchf4 |
T |
G |
1: 72,486,379 (GRCm39) |
Q266H |
probably damaging |
Het |
Med23 |
A |
G |
10: 24,781,863 (GRCm39) |
T1056A |
probably benign |
Het |
Megf11 |
T |
C |
9: 64,613,914 (GRCm39) |
L1079P |
probably damaging |
Het |
Mycbp2 |
G |
T |
14: 103,583,701 (GRCm39) |
L85I |
probably benign |
Het |
Nlgn2 |
G |
T |
11: 69,718,711 (GRCm39) |
Q290K |
probably damaging |
Het |
Nox4 |
A |
T |
7: 86,972,962 (GRCm39) |
E323V |
probably damaging |
Het |
Nup93 |
T |
C |
8: 95,013,247 (GRCm39) |
|
probably null |
Het |
Or10d5b |
T |
A |
9: 39,886,117 (GRCm39) |
M1L |
unknown |
Het |
Or14a257 |
C |
T |
7: 86,138,776 (GRCm39) |
|
probably null |
Het |
Or51e1 |
C |
T |
7: 102,358,745 (GRCm39) |
T93I |
probably benign |
Het |
Otop3 |
T |
C |
11: 115,230,474 (GRCm39) |
L117P |
probably damaging |
Het |
Pde6c |
C |
A |
19: 38,129,869 (GRCm39) |
Q260K |
probably damaging |
Het |
Plb1 |
C |
T |
5: 32,404,901 (GRCm39) |
Q20* |
probably null |
Het |
Qser1 |
A |
T |
2: 104,617,322 (GRCm39) |
Y1163* |
probably null |
Het |
Rbm12 |
A |
T |
2: 155,940,137 (GRCm39) |
I45N |
unknown |
Het |
Rictor |
T |
A |
15: 6,798,750 (GRCm39) |
Y332* |
probably null |
Het |
Rpp14 |
C |
A |
14: 8,090,325 (GRCm38) |
S83* |
probably null |
Het |
Sel1l3 |
C |
T |
5: 53,280,504 (GRCm39) |
|
probably null |
Het |
Setd2 |
T |
C |
9: 110,396,908 (GRCm39) |
|
probably null |
Het |
Spink5 |
A |
G |
18: 44,143,319 (GRCm39) |
T759A |
probably benign |
Het |
Spon2 |
T |
A |
5: 33,374,800 (GRCm39) |
E2V |
probably benign |
Het |
Tdrd1 |
T |
C |
19: 56,826,140 (GRCm39) |
S144P |
probably damaging |
Het |
Tex15 |
A |
C |
8: 34,065,148 (GRCm39) |
Y1526S |
probably damaging |
Het |
Tex55 |
A |
G |
16: 38,648,225 (GRCm39) |
Y295H |
probably benign |
Het |
Tnfrsf21 |
T |
C |
17: 43,348,807 (GRCm39) |
S140P |
probably benign |
Het |
Trav6-2 |
T |
A |
14: 52,904,899 (GRCm39) |
M11K |
probably benign |
Het |
Trp53bp1 |
G |
T |
2: 121,078,295 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,565,171 (GRCm39) |
N28352S |
possibly damaging |
Het |
Uckl1 |
T |
C |
2: 181,214,899 (GRCm39) |
I292V |
probably benign |
Het |
Unc13b |
T |
A |
4: 43,216,333 (GRCm39) |
S211T |
probably benign |
Het |
Zcchc4 |
T |
C |
5: 52,965,635 (GRCm39) |
I313T |
possibly damaging |
Het |
Zfp106 |
C |
T |
2: 120,343,215 (GRCm39) |
R1811K |
probably benign |
Het |
Zfp599 |
G |
T |
9: 22,161,188 (GRCm39) |
Q326K |
probably benign |
Het |
Zscan4e |
A |
T |
7: 11,043,452 (GRCm39) |
M108K |
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 |
|
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'- ATTACTTCCTTGGTATTCATGGACC -3'
(R):5'- TAGCACATCTTATCTAGCATCACAGTC -3'
Sequencing Primer
(F):5'- CCTTGGTATTCATGGACCATAATC -3'
(R):5'- CTGGATGCTTCATAAATCTGTTT -3'
|
Posted On |
2019-10-24 |