Incidental Mutation 'R9357:Ccdc7a'
| ID |
708460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc7a
|
| Ensembl Gene |
ENSMUSG00000025808 |
| Gene Name |
coiled-coil domain containing 7A |
| Synonyms |
4930540C21Rik, 4930517G15Rik, Ccdc7 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R9357 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
129460715-129791973 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 129671136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000214889]
|
| AlphaFold |
Q9D541 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000214889
|
| Meta Mutation Damage Score |
0.9489 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,901,696 (GRCm39) |
V900A |
probably benign |
Het |
| Adam28 |
C |
T |
14: 68,879,479 (GRCm39) |
A190T |
probably benign |
Het |
| Ager |
T |
C |
17: 34,817,541 (GRCm39) |
V116A |
probably damaging |
Het |
| Agt |
G |
T |
8: 125,291,065 (GRCm39) |
H81N |
probably benign |
Het |
| Apc2 |
T |
C |
10: 80,146,872 (GRCm39) |
V642A |
probably damaging |
Het |
| Atg4b |
C |
T |
1: 93,713,648 (GRCm39) |
T325M |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,150,711 (GRCm39) |
S1470G |
probably benign |
Het |
| Cacul1 |
A |
G |
19: 60,533,942 (GRCm39) |
I220T |
probably benign |
Het |
| Cnnm1 |
A |
C |
19: 43,429,827 (GRCm39) |
D315A |
probably damaging |
Het |
| Fbxo24 |
A |
G |
5: 137,611,096 (GRCm39) |
F565L |
probably damaging |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,211 (GRCm39) |
S73T |
probably damaging |
Het |
| Gbp7 |
T |
C |
3: 142,248,889 (GRCm39) |
V384A |
probably benign |
Het |
| Gcnt2 |
A |
T |
13: 41,041,732 (GRCm39) |
H297L |
possibly damaging |
Het |
| Glo1 |
T |
C |
17: 30,831,518 (GRCm39) |
E3G |
probably benign |
Het |
| Gsdmc4 |
T |
C |
15: 63,772,196 (GRCm39) |
D161G |
probably benign |
Het |
| Ifi213 |
T |
A |
1: 173,396,392 (GRCm39) |
M561L |
probably benign |
Het |
| Ighv1-63 |
A |
G |
12: 115,459,478 (GRCm39) |
S40P |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,260,814 (GRCm39) |
L971P |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,336,917 (GRCm39) |
I1285N |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,566,708 (GRCm39) |
Y2004* |
probably null |
Het |
| Mindy1 |
C |
T |
3: 95,202,590 (GRCm39) |
L394F |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,852,450 (GRCm39) |
D846G |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,463,268 (GRCm39) |
E500G |
probably damaging |
Het |
| Myo18a |
C |
T |
11: 77,733,014 (GRCm39) |
T1348M |
probably damaging |
Het |
| Myo7b |
A |
T |
18: 32,093,129 (GRCm39) |
I2027N |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,069,580 (GRCm39) |
|
probably null |
Het |
| Obscn |
G |
A |
11: 58,929,592 (GRCm39) |
R5208C |
probably damaging |
Het |
| Parg |
G |
A |
14: 31,996,874 (GRCm39) |
D827N |
probably damaging |
Het |
| Pcdha6 |
A |
T |
18: 37,102,226 (GRCm39) |
H473L |
probably benign |
Het |
| Pde4dip |
A |
G |
3: 97,625,645 (GRCm39) |
S1318P |
probably benign |
Het |
| Ppan |
T |
C |
9: 20,801,220 (GRCm39) |
S166P |
possibly damaging |
Het |
| Ppargc1b |
C |
A |
18: 61,448,939 (GRCm39) |
A128S |
probably damaging |
Het |
| Rdh16f2 |
T |
A |
10: 127,712,915 (GRCm39) |
D304E |
possibly damaging |
Het |
| Sh3pxd2a |
A |
T |
19: 47,260,448 (GRCm39) |
L435Q |
probably damaging |
Het |
| Slc35d1 |
A |
T |
4: 103,065,333 (GRCm39) |
Y183N |
|
Het |
| Sspo |
T |
C |
6: 48,443,989 (GRCm39) |
S2166P |
possibly damaging |
Het |
| Tent5a |
A |
T |
9: 85,208,672 (GRCm39) |
N50K |
probably benign |
Het |
| Twf2 |
T |
C |
9: 106,092,100 (GRCm39) |
F319S |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,607,147 (GRCm39) |
T4014M |
probably benign |
Het |
| Vmn1r3 |
T |
G |
4: 3,185,149 (GRCm39) |
T53P |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,880,428 (GRCm39) |
E86G |
probably benign |
Het |
| Wdtc1 |
A |
G |
4: 133,023,782 (GRCm39) |
Y530H |
probably damaging |
Het |
| Xdh |
A |
G |
17: 74,214,711 (GRCm39) |
F745L |
probably damaging |
Het |
| Xdh |
A |
C |
17: 74,233,541 (GRCm39) |
|
probably null |
Het |
| Zfp358 |
T |
C |
8: 3,545,568 (GRCm39) |
L50P |
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 |
|
|
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 |
|
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'- CACATGGACTGTTTAGCCTTTC -3'
(R):5'- TCAGGATGCATTACCATCTTTGACTTG -3'
Sequencing Primer
(F):5'- GCTAAAAATTTCCCTCATCCCATG -3'
(R):5'- GCTTGCCTAATATCTTTGTC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation