Incidental Mutation 'R5193:Ccdc7a'
ID |
399848 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc7a
|
Ensembl Gene |
ENSMUSG00000025808 |
Gene Name |
coiled-coil domain containing 7A |
Synonyms |
4930540C21Rik, 4930517G15Rik, Ccdc7 |
MMRRC Submission |
042769-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R5193 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
129460715-129791973 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 129715278 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 269
(I269L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149790
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095158]
[ENSMUST00000125112]
[ENSMUST00000214889]
|
AlphaFold |
Q9D541 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095158
AA Change: I269L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000092780 Gene: ENSMUSG00000025808 AA Change: I269L
Domain | Start | End | E-Value | Type |
Pfam:BioT2
|
1 |
166 |
3e-79 |
PFAM |
SCOP:d1sig__
|
191 |
370 |
1e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125112
AA Change: I269L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000117961 Gene: ENSMUSG00000025808 AA Change: I269L
Domain | Start | End | E-Value | Type |
Pfam:BioT2
|
1 |
166 |
4.3e-83 |
PFAM |
SCOP:d1sig__
|
191 |
333 |
9e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214889
AA Change: I269L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12 |
A |
T |
2: 150,677,226 (GRCm39) |
*56R |
probably null |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Arfgap3 |
C |
T |
15: 83,216,898 (GRCm39) |
A156T |
probably benign |
Het |
Bpifc |
T |
C |
10: 85,836,497 (GRCm39) |
T3A |
probably benign |
Het |
Cd151 |
A |
G |
7: 141,050,606 (GRCm39) |
Y253C |
probably damaging |
Het |
Cenpl |
C |
A |
1: 160,911,037 (GRCm39) |
S328* |
probably null |
Het |
Cfl1 |
T |
A |
19: 5,542,580 (GRCm39) |
V20D |
probably damaging |
Het |
Clec14a |
A |
G |
12: 58,315,400 (GRCm39) |
L74P |
probably damaging |
Het |
Cnn1 |
A |
T |
9: 22,019,132 (GRCm39) |
D196V |
probably damaging |
Het |
Cst13 |
C |
A |
2: 148,670,143 (GRCm39) |
C104* |
probably null |
Het |
Det1 |
A |
G |
7: 78,493,302 (GRCm39) |
V234A |
probably damaging |
Het |
Efnb2 |
A |
G |
8: 8,673,162 (GRCm39) |
M165T |
probably damaging |
Het |
Fbxo10 |
T |
A |
4: 45,051,573 (GRCm39) |
K339* |
probably null |
Het |
Fnta |
A |
T |
8: 26,501,246 (GRCm39) |
|
probably null |
Het |
Fsip2 |
A |
T |
2: 82,813,338 (GRCm39) |
Y3219F |
possibly damaging |
Het |
Gprin2 |
C |
T |
14: 33,916,832 (GRCm39) |
V313M |
possibly damaging |
Het |
Hars1 |
A |
G |
18: 36,900,358 (GRCm39) |
L448S |
possibly damaging |
Het |
Hipk3 |
A |
G |
2: 104,260,345 (GRCm39) |
I1166T |
possibly damaging |
Het |
Il31ra |
T |
C |
13: 112,660,864 (GRCm39) |
E602G |
probably benign |
Het |
Kctd15 |
A |
G |
7: 34,344,282 (GRCm39) |
L123P |
probably damaging |
Het |
Kifbp |
T |
C |
10: 62,395,175 (GRCm39) |
D489G |
possibly damaging |
Het |
Krt1 |
C |
A |
15: 101,754,357 (GRCm39) |
S631I |
unknown |
Het |
Lancl1 |
T |
A |
1: 67,060,173 (GRCm39) |
Y84F |
probably benign |
Het |
Lcor |
A |
G |
19: 41,570,969 (GRCm39) |
D54G |
probably damaging |
Het |
Mafa |
G |
T |
15: 75,619,666 (GRCm39) |
P36T |
unknown |
Het |
Magi2 |
G |
A |
5: 20,563,970 (GRCm39) |
|
probably null |
Het |
Mcm9 |
T |
A |
10: 53,492,134 (GRCm39) |
I396F |
probably damaging |
Het |
Mrgprh |
T |
C |
17: 13,095,942 (GRCm39) |
F61L |
probably damaging |
Het |
Or10g1b |
A |
G |
14: 52,628,069 (GRCm39) |
W54R |
probably benign |
Het |
Or1e16 |
TAGCGGTCGTA |
T |
11: 73,286,479 (GRCm39) |
|
probably null |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or51a7 |
T |
A |
7: 102,615,143 (GRCm39) |
F279I |
possibly damaging |
Het |
Or5w17 |
A |
T |
2: 87,583,448 (GRCm39) |
D296E |
possibly damaging |
Het |
Pcsk5 |
T |
A |
19: 17,542,174 (GRCm39) |
T806S |
possibly damaging |
Het |
Pigc |
T |
C |
1: 161,798,465 (GRCm39) |
I149T |
possibly damaging |
Het |
Pou5f2 |
C |
A |
13: 78,173,083 (GRCm39) |
N8K |
probably benign |
Het |
Pou6f2 |
T |
C |
13: 18,300,129 (GRCm39) |
|
probably benign |
Het |
Prl3d2 |
T |
A |
13: 27,306,312 (GRCm39) |
M13K |
possibly damaging |
Het |
Pzp |
T |
C |
6: 128,479,297 (GRCm39) |
N619D |
probably benign |
Het |
Rnps1 |
G |
A |
17: 24,637,517 (GRCm39) |
S53N |
probably benign |
Het |
Scaf8 |
C |
G |
17: 3,240,440 (GRCm39) |
A604G |
probably benign |
Het |
Scn10a |
T |
C |
9: 119,438,721 (GRCm39) |
N1716S |
probably damaging |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Slc34a1 |
A |
G |
13: 24,003,845 (GRCm39) |
|
probably null |
Het |
Syne2 |
A |
G |
12: 76,141,194 (GRCm39) |
D6102G |
probably damaging |
Het |
Tbc1d16 |
A |
T |
11: 119,049,646 (GRCm39) |
D283E |
probably benign |
Het |
Tet1 |
T |
C |
10: 62,674,026 (GRCm39) |
D1350G |
probably benign |
Het |
Trpa1 |
A |
G |
1: 14,946,141 (GRCm39) |
Y997H |
possibly damaging |
Het |
Tyro3 |
T |
C |
2: 119,640,998 (GRCm39) |
L494P |
probably damaging |
Het |
Uba6 |
G |
T |
5: 86,272,281 (GRCm39) |
Q803K |
probably benign |
Het |
Vgll2 |
T |
A |
10: 51,904,088 (GRCm39) |
L317Q |
possibly damaging |
Het |
Wdr62 |
A |
T |
7: 29,964,592 (GRCm39) |
I384N |
probably damaging |
Het |
Wdtc1 |
G |
A |
4: 133,021,678 (GRCm39) |
R619* |
probably null |
Het |
Xkr6 |
A |
G |
14: 64,056,356 (GRCm39) |
D89G |
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 |
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 |
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'- ACTTGATGTATCTTGCAGGTTGGTA -3'
(R):5'- TCAGAATGTTGTTCTCCCCACCT -3'
Sequencing Primer
(F):5'- CTCCCCTTCTTTGAGGAAAAGGG -3'
(R):5'- TCTTGGTATACCTTGCATCATAGG -3'
|
Posted On |
2016-07-06 |