Incidental Mutation 'R8478:Ccdc7a'
| ID |
657383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc7a
|
| Ensembl Gene |
ENSMUSG00000025808 |
| Gene Name |
coiled-coil domain containing 7A |
| Synonyms |
4930540C21Rik, 4930517G15Rik, Ccdc7 |
| MMRRC Submission |
067922-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R8478 (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 129487850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 186
(K186E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000195093]
[ENSMUST00000214889]
[ENSMUST00000216104]
|
| AlphaFold |
Q9D541 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195093
AA Change: K113E
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213135
AA Change: K36E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214889
AA Change: K1551E
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216104
AA Change: K186E
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217343
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
A |
T |
9: 107,805,844 (GRCm39) |
I56F |
possibly damaging |
Het |
| Adgrl3 |
G |
T |
5: 81,942,348 (GRCm39) |
R1357L |
possibly damaging |
Het |
| Alpk1 |
T |
A |
3: 127,522,961 (GRCm39) |
D27V |
probably damaging |
Het |
| Als2 |
T |
C |
1: 59,225,175 (GRCm39) |
E986G |
probably damaging |
Het |
| Ankle2 |
T |
A |
5: 110,400,818 (GRCm39) |
L717Q |
possibly damaging |
Het |
| Arl8b |
A |
G |
6: 108,760,285 (GRCm39) |
T24A |
possibly damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,047,502 (GRCm39) |
I718T |
probably damaging |
Het |
| Atp6v0e2 |
T |
A |
6: 48,517,031 (GRCm39) |
N70K |
probably benign |
Het |
| Bcl11a |
A |
G |
11: 24,115,086 (GRCm39) |
S810G |
probably damaging |
Het |
| Bcl2a1d |
T |
G |
9: 88,605,488 (GRCm39) |
*173S |
probably null |
Het |
| Bltp1 |
A |
T |
3: 37,087,426 (GRCm39) |
D511V |
possibly damaging |
Het |
| Cacna1g |
A |
G |
11: 94,317,278 (GRCm39) |
Y1494H |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,764,515 (GRCm39) |
I817V |
probably benign |
Het |
| Chd5 |
C |
T |
4: 152,441,147 (GRCm39) |
R196* |
probably null |
Het |
| Chsy1 |
C |
T |
7: 65,820,748 (GRCm39) |
H328Y |
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,372,522 (GRCm39) |
S713T |
probably benign |
Het |
| Csrnp3 |
A |
T |
2: 65,708,400 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,332,001 (GRCm39) |
N86S |
probably benign |
Het |
| Epha3 |
T |
C |
16: 63,593,444 (GRCm39) |
T215A |
probably damaging |
Het |
| Fgf1 |
T |
C |
18: 38,987,944 (GRCm39) |
|
probably null |
Het |
| Fosl1 |
T |
C |
19: 5,504,947 (GRCm39) |
S145P |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,338,187 (GRCm39) |
V160E |
probably damaging |
Het |
| Galk2 |
A |
T |
2: 125,771,505 (GRCm39) |
K177* |
probably null |
Het |
| Gria1 |
T |
C |
11: 57,200,668 (GRCm39) |
Y782H |
probably damaging |
Het |
| Gria4 |
C |
T |
9: 4,793,882 (GRCm39) |
E59K |
probably damaging |
Het |
| Ighv1-11 |
A |
G |
12: 114,575,919 (GRCm39) |
Y99H |
possibly damaging |
Het |
| Insm2 |
A |
T |
12: 55,647,330 (GRCm39) |
Y358F |
probably damaging |
Het |
| Marveld3 |
C |
T |
8: 110,688,600 (GRCm39) |
G47D |
probably damaging |
Het |
| Mthfd1l |
A |
G |
10: 4,098,064 (GRCm39) |
D967G |
probably damaging |
Het |
| Nav2 |
G |
T |
7: 49,111,733 (GRCm39) |
M746I |
probably damaging |
Het |
| Niban1 |
C |
A |
1: 151,512,263 (GRCm39) |
T55K |
possibly damaging |
Het |
| Nmnat1 |
A |
G |
4: 149,557,841 (GRCm39) |
I67T |
possibly damaging |
Het |
| Nub1 |
G |
T |
5: 24,906,422 (GRCm39) |
R316L |
probably benign |
Het |
| Nxn |
A |
G |
11: 76,164,869 (GRCm39) |
V214A |
probably damaging |
Het |
| Or52n5 |
C |
A |
7: 104,588,477 (GRCm39) |
S248Y |
probably benign |
Het |
| Pelp1 |
A |
T |
11: 70,285,146 (GRCm39) |
D907E |
unknown |
Het |
| Pik3c2a |
A |
T |
7: 116,017,584 (GRCm39) |
S58T |
probably damaging |
Het |
| Pik3ca |
A |
G |
3: 32,505,997 (GRCm39) |
N703S |
probably benign |
Het |
| Polr3c |
G |
A |
3: 96,624,066 (GRCm39) |
|
probably benign |
Het |
| Pon1 |
C |
T |
6: 5,185,318 (GRCm39) |
G61R |
probably damaging |
Het |
| Pou2f1 |
A |
T |
1: 165,759,287 (GRCm39) |
M1K |
probably null |
Het |
| Prkdc |
T |
A |
16: 15,466,788 (GRCm39) |
C90S |
probably benign |
Het |
| Prokr1 |
A |
G |
6: 87,558,330 (GRCm39) |
Y352H |
probably benign |
Het |
| Rhod |
C |
T |
19: 4,476,719 (GRCm39) |
R134H |
probably damaging |
Het |
| Rufy3 |
C |
T |
5: 88,762,895 (GRCm39) |
R110W |
probably damaging |
Het |
| Sema4c |
A |
T |
1: 36,590,871 (GRCm39) |
M460K |
probably benign |
Het |
| Slc46a3 |
T |
C |
5: 147,815,963 (GRCm39) |
S455G |
probably benign |
Het |
| Smyd1 |
A |
T |
6: 71,193,811 (GRCm39) |
H371Q |
probably damaging |
Het |
| Steap1 |
A |
G |
5: 5,786,432 (GRCm39) |
M335T |
probably benign |
Het |
| Suox |
A |
G |
10: 128,506,921 (GRCm39) |
V369A |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,900,666 (GRCm39) |
I514V |
probably benign |
Het |
| Tie1 |
A |
T |
4: 118,341,979 (GRCm39) |
|
probably null |
Het |
| Tmem131l |
T |
C |
3: 83,805,769 (GRCm39) |
E1558G |
probably damaging |
Het |
| Tpcn1 |
G |
T |
5: 120,698,386 (GRCm39) |
H45Q |
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,870,857 (GRCm39) |
S327P |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,175,429 (GRCm39) |
V1176M |
possibly damaging |
Het |
| Utrn |
A |
G |
10: 12,524,892 (GRCm39) |
M2197T |
probably benign |
Het |
| Vmn1r50 |
G |
T |
6: 90,085,071 (GRCm39) |
C272F |
probably benign |
Het |
| Vmn2r10 |
A |
T |
5: 109,143,636 (GRCm39) |
N771K |
probably damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,257 (GRCm39) |
F691I |
possibly damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,340,281 (GRCm39) |
Q64R |
probably benign |
Het |
| Vmn2r95 |
G |
T |
17: 18,672,544 (GRCm39) |
L760F |
probably damaging |
Het |
| Wdr97 |
T |
C |
15: 76,247,629 (GRCm39) |
|
probably null |
Het |
| Xdh |
C |
A |
17: 74,213,053 (GRCm39) |
E863D |
probably benign |
Het |
| Ykt6 |
A |
G |
11: 5,912,407 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Zranb2 |
A |
G |
3: 157,251,745 (GRCm39) |
*321W |
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 |
|
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 |
|
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'- CTGGTTGTCCCACAGCTTAAG -3'
(R):5'- TGCCGGCTAAGTCACTTAGTC -3'
Sequencing Primer
(F):5'- GTTGTCCCACAGCTTAAGTACACTAG -3'
(R):5'- ATTTCAAGCCAGCATCGTGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation