Incidental Mutation 'R6882:Ccdc7a'
ID |
543678 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc7a
|
Ensembl Gene |
ENSMUSG00000025808 |
Gene Name |
coiled-coil domain containing 7A |
Synonyms |
4930540C21Rik, 4930517G15Rik, Ccdc7 |
MMRRC Submission |
044977-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R6882 (G1)
|
Quality Score |
181.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
129460715-129791973 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 129523809 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150983
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000195093]
[ENSMUST00000214889]
[ENSMUST00000216104]
|
AlphaFold |
Q9D541 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000195093
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214889
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216104
|
Predicted Effect |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
Validation Efficiency |
100% (63/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr10 |
A |
G |
12: 71,003,125 (GRCm39) |
E238G |
probably benign |
Het |
Adgrf5 |
T |
A |
17: 43,761,271 (GRCm39) |
C989S |
probably damaging |
Het |
Ank2 |
T |
G |
3: 126,739,406 (GRCm39) |
|
probably benign |
Het |
C2cd6 |
T |
C |
1: 59,105,318 (GRCm39) |
D320G |
probably damaging |
Het |
Cacnb2 |
T |
A |
2: 14,829,110 (GRCm39) |
I15N |
probably benign |
Het |
Cage1 |
T |
A |
13: 38,206,534 (GRCm39) |
Q437L |
probably damaging |
Het |
Capn15 |
G |
T |
17: 26,179,153 (GRCm39) |
|
probably null |
Het |
Cbll1 |
A |
G |
12: 31,537,484 (GRCm39) |
Y424H |
probably damaging |
Het |
Ccdc166 |
T |
C |
15: 75,853,466 (GRCm39) |
H167R |
possibly damaging |
Het |
Cdkl4 |
T |
A |
17: 80,851,175 (GRCm39) |
T176S |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,447,054 (GRCm39) |
E2321G |
possibly damaging |
Het |
Col6a5 |
G |
A |
9: 105,817,469 (GRCm39) |
Q281* |
probably null |
Het |
Csmd2 |
A |
G |
4: 128,343,062 (GRCm39) |
T1485A |
probably benign |
Het |
Dmxl1 |
A |
G |
18: 49,976,851 (GRCm39) |
|
probably null |
Het |
Dnah3 |
A |
G |
7: 119,570,407 (GRCm39) |
I2271T |
possibly damaging |
Het |
Elavl2 |
A |
G |
4: 91,196,952 (GRCm39) |
I42T |
probably damaging |
Het |
Epn3 |
C |
T |
11: 94,382,186 (GRCm39) |
A568T |
probably benign |
Het |
Etv3 |
T |
C |
3: 87,436,577 (GRCm39) |
F111L |
probably damaging |
Het |
Fnip1 |
A |
G |
11: 54,400,724 (GRCm39) |
E1041G |
probably damaging |
Het |
Fosl2 |
T |
C |
5: 32,310,208 (GRCm39) |
V219A |
possibly damaging |
Het |
Foxj2 |
T |
A |
6: 122,805,464 (GRCm39) |
|
probably null |
Het |
Gm8947 |
G |
A |
1: 151,068,880 (GRCm39) |
A238T |
possibly damaging |
Het |
Golgb1 |
C |
A |
16: 36,734,352 (GRCm39) |
Q1200K |
probably benign |
Het |
Igkv4-55 |
A |
G |
6: 69,584,289 (GRCm39) |
Y108H |
probably damaging |
Het |
Iglc1 |
G |
A |
16: 18,880,599 (GRCm39) |
|
probably benign |
Het |
Ints13 |
G |
T |
6: 146,464,939 (GRCm39) |
R221S |
probably null |
Het |
Ipo11 |
T |
C |
13: 107,037,190 (GRCm39) |
|
probably null |
Het |
Kcnn2 |
A |
T |
18: 45,692,505 (GRCm39) |
H27L |
possibly damaging |
Het |
Kcns3 |
C |
T |
12: 11,142,049 (GRCm39) |
V217M |
probably benign |
Het |
Klra9 |
A |
T |
6: 130,155,985 (GRCm39) |
C257S |
probably damaging |
Het |
Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
Lmbr1l |
A |
G |
15: 98,805,467 (GRCm39) |
F345L |
probably damaging |
Het |
Lrrc18 |
A |
C |
14: 32,730,646 (GRCm39) |
I62L |
probably benign |
Het |
Mr1 |
A |
G |
1: 155,008,199 (GRCm39) |
W259R |
possibly damaging |
Het |
Myo15a |
G |
A |
11: 60,414,832 (GRCm39) |
R3325H |
probably damaging |
Het |
Nid2 |
A |
G |
14: 19,839,775 (GRCm39) |
D788G |
probably damaging |
Het |
Or2y1c |
A |
T |
11: 49,361,290 (GRCm39) |
Y104F |
probably benign |
Het |
Or5an10 |
C |
A |
19: 12,275,934 (GRCm39) |
Q187H |
probably damaging |
Het |
Or5h24 |
A |
T |
16: 58,918,990 (GRCm39) |
C122S |
unknown |
Het |
Or6d12 |
T |
C |
6: 116,493,395 (GRCm39) |
V219A |
probably benign |
Het |
Pbld1 |
T |
C |
10: 62,897,241 (GRCm39) |
L11P |
probably benign |
Het |
Pcnt |
T |
C |
10: 76,263,662 (GRCm39) |
E434G |
probably benign |
Het |
Prg4 |
G |
A |
1: 150,329,246 (GRCm39) |
T174M |
probably damaging |
Het |
Prkdc |
G |
A |
16: 15,601,127 (GRCm39) |
|
probably null |
Het |
Prkdc |
T |
A |
16: 15,626,020 (GRCm39) |
S3349T |
probably benign |
Het |
Prpf38a |
C |
A |
4: 108,427,365 (GRCm39) |
E199D |
probably benign |
Het |
Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
Rhbg |
T |
A |
3: 88,152,527 (GRCm39) |
H339L |
probably damaging |
Het |
Rnf183 |
A |
G |
4: 62,346,261 (GRCm39) |
I179T |
probably benign |
Het |
Sh3bp5l |
G |
T |
11: 58,222,525 (GRCm39) |
A7S |
probably benign |
Het |
Slc12a3 |
T |
A |
8: 95,092,546 (GRCm39) |
I989N |
possibly damaging |
Het |
Sycp3 |
C |
T |
10: 88,308,791 (GRCm39) |
R246* |
probably null |
Het |
Tmprss11b |
T |
A |
5: 86,819,530 (GRCm39) |
|
probably null |
Het |
Tmx4 |
T |
C |
2: 134,485,922 (GRCm39) |
T2A |
possibly damaging |
Het |
Tnfsf10 |
T |
C |
3: 27,380,182 (GRCm39) |
L82S |
possibly damaging |
Het |
Tnni3k |
T |
A |
3: 154,663,357 (GRCm39) |
I332F |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,644,539 (GRCm39) |
T13072S |
probably benign |
Het |
Vmn2r1 |
A |
T |
3: 63,997,529 (GRCm39) |
Y395F |
possibly damaging |
Het |
Zbbx |
A |
G |
3: 74,979,019 (GRCm39) |
V476A |
probably benign |
Het |
Zfp341 |
T |
C |
2: 154,479,943 (GRCm39) |
C465R |
probably damaging |
Het |
Zfp398 |
A |
G |
6: 47,843,016 (GRCm39) |
D224G |
probably damaging |
Het |
Zfp407 |
G |
T |
18: 84,361,194 (GRCm39) |
|
probably null |
Het |
Zfp52 |
T |
C |
17: 21,775,309 (GRCm39) |
M1T |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTACTGTATAGACACAAAGTGGC -3'
(R):5'- AAAAGTCAACCTCTGCTCGG -3'
Sequencing Primer
(F):5'- CTGTATAGACACAAAGTGGCAGAAG -3'
(R):5'- CTCTGCTCGGAAGAAACGTGTG -3'
|
Posted On |
2019-05-08 |