Incidental Mutation 'IGL03003:Ccdc93'
ID |
407430 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc93
|
Ensembl Gene |
ENSMUSG00000026339 |
Gene Name |
coiled-coil domain containing 93 |
Synonyms |
9230102M16Rik, 4633402D15Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.865)
|
Stock # |
IGL03003
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
121358796-121434189 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121390846 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 273
(S273P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108240
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036025]
[ENSMUST00000112621]
|
AlphaFold |
Q7TQK5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036025
AA Change: S274P
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000043442 Gene: ENSMUSG00000026339 AA Change: S274P
Domain | Start | End | E-Value | Type |
Pfam:KOG2701
|
27 |
206 |
2e-81 |
PFAM |
coiled coil region
|
316 |
426 |
N/A |
INTRINSIC |
coiled coil region
|
558 |
599 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112621
AA Change: S273P
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000108240 Gene: ENSMUSG00000026339 AA Change: S273P
Domain | Start | End | E-Value | Type |
Pfam:KOG2701
|
26 |
207 |
1.1e-86 |
PFAM |
coiled coil region
|
231 |
269 |
N/A |
INTRINSIC |
coiled coil region
|
315 |
425 |
N/A |
INTRINSIC |
coiled coil region
|
557 |
598 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
C |
T |
1: 130,671,509 (GRCm39) |
P577L |
probably damaging |
Het |
Aff3 |
A |
T |
1: 38,248,651 (GRCm39) |
S819T |
probably damaging |
Het |
Aftph |
G |
T |
11: 20,676,982 (GRCm39) |
S209* |
probably null |
Het |
Astn1 |
T |
A |
1: 158,439,965 (GRCm39) |
D844E |
probably benign |
Het |
Cc2d2a |
A |
G |
5: 43,828,608 (GRCm39) |
K29E |
probably benign |
Het |
Cd200r3 |
C |
A |
16: 44,764,139 (GRCm39) |
H2N |
probably benign |
Het |
Cd200r3 |
G |
T |
16: 44,764,138 (GRCm39) |
M1I |
probably null |
Het |
Col7a1 |
G |
A |
9: 108,804,024 (GRCm39) |
|
probably null |
Het |
Cyp3a41a |
T |
A |
5: 145,642,640 (GRCm39) |
M240L |
probably benign |
Het |
Dcstamp |
T |
C |
15: 39,617,906 (GRCm39) |
V105A |
possibly damaging |
Het |
Dmbt1 |
C |
A |
7: 130,684,409 (GRCm39) |
P635Q |
probably benign |
Het |
Dsg1a |
T |
A |
18: 20,469,876 (GRCm39) |
M634K |
probably benign |
Het |
Farp2 |
T |
C |
1: 93,495,140 (GRCm39) |
Y138H |
probably damaging |
Het |
Fga |
T |
C |
3: 82,940,037 (GRCm39) |
S564P |
probably damaging |
Het |
Gbf1 |
T |
C |
19: 46,244,094 (GRCm39) |
L142S |
probably damaging |
Het |
Gm5422 |
T |
C |
10: 31,126,840 (GRCm39) |
|
noncoding transcript |
Het |
Helz2 |
A |
G |
2: 180,882,046 (GRCm39) |
V249A |
probably damaging |
Het |
Hmcn2 |
C |
A |
2: 31,323,498 (GRCm39) |
T4204K |
probably damaging |
Het |
Ift81 |
T |
C |
5: 122,732,725 (GRCm39) |
I270V |
probably benign |
Het |
Katnip |
A |
T |
7: 125,451,132 (GRCm39) |
I1088F |
probably damaging |
Het |
Kif6 |
C |
T |
17: 50,060,899 (GRCm39) |
R411* |
probably null |
Het |
Klhl35 |
T |
A |
7: 99,119,550 (GRCm39) |
V345D |
probably damaging |
Het |
Mcm3ap |
C |
A |
10: 76,340,531 (GRCm39) |
D1531E |
probably benign |
Het |
Muc5b |
C |
A |
7: 141,417,351 (GRCm39) |
D3432E |
probably benign |
Het |
Nipbl |
A |
T |
15: 8,379,798 (GRCm39) |
V998D |
probably damaging |
Het |
Nlrc3 |
C |
A |
16: 3,782,726 (GRCm39) |
V228L |
probably benign |
Het |
Nrap |
T |
C |
19: 56,310,384 (GRCm39) |
H1456R |
probably damaging |
Het |
Nt5c1b |
C |
T |
12: 10,424,910 (GRCm39) |
A210V |
possibly damaging |
Het |
Or13a18 |
A |
G |
7: 140,190,283 (GRCm39) |
Y60C |
probably damaging |
Het |
Or1l4b |
T |
C |
2: 37,036,464 (GRCm39) |
V80A |
probably benign |
Het |
Osbpl7 |
T |
C |
11: 96,941,521 (GRCm39) |
Y15H |
probably benign |
Het |
Pde8b |
T |
A |
13: 95,178,465 (GRCm39) |
N552Y |
probably damaging |
Het |
Pi4kb |
T |
A |
3: 94,892,123 (GRCm39) |
S280T |
probably benign |
Het |
Pkd1 |
T |
A |
17: 24,812,577 (GRCm39) |
|
probably null |
Het |
Polh |
A |
T |
17: 46,505,292 (GRCm39) |
V108E |
possibly damaging |
Het |
Prob1 |
A |
G |
18: 35,786,428 (GRCm39) |
S609P |
possibly damaging |
Het |
Ptprz1 |
T |
A |
6: 23,002,582 (GRCm39) |
N1557K |
probably damaging |
Het |
Rev1 |
A |
C |
1: 38,127,154 (GRCm39) |
F369V |
possibly damaging |
Het |
Rgma |
A |
G |
7: 73,067,188 (GRCm39) |
N148D |
probably damaging |
Het |
Robo3 |
A |
G |
9: 37,330,587 (GRCm39) |
L1003S |
probably damaging |
Het |
Sdhb |
T |
C |
4: 140,700,311 (GRCm39) |
V137A |
probably damaging |
Het |
Sema6c |
T |
C |
3: 95,076,925 (GRCm39) |
L337P |
probably damaging |
Het |
Shc4 |
A |
T |
2: 125,565,253 (GRCm39) |
Y15* |
probably null |
Het |
Slc4a9 |
T |
C |
18: 36,669,946 (GRCm39) |
S722P |
probably damaging |
Het |
Smarcc1 |
A |
G |
9: 110,035,168 (GRCm39) |
N864D |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,432,021 (GRCm39) |
L745P |
probably damaging |
Het |
Syce1l |
A |
G |
8: 114,380,699 (GRCm39) |
D137G |
probably damaging |
Het |
Tbc1d1 |
G |
T |
5: 64,473,781 (GRCm39) |
W768L |
probably damaging |
Het |
Tmbim7 |
A |
G |
5: 3,711,887 (GRCm39) |
D7G |
probably benign |
Het |
Tmem109 |
A |
C |
19: 10,851,695 (GRCm39) |
S64A |
probably benign |
Het |
Tnfrsf21 |
A |
G |
17: 43,350,834 (GRCm39) |
R333G |
probably damaging |
Het |
Ttn |
T |
G |
2: 76,611,955 (GRCm39) |
S17316R |
probably damaging |
Het |
Usp10 |
A |
G |
8: 120,681,549 (GRCm39) |
T668A |
possibly damaging |
Het |
Xirp2 |
T |
A |
2: 67,345,906 (GRCm39) |
F2716I |
possibly damaging |
Het |
|
Other mutations in Ccdc93 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01524:Ccdc93
|
APN |
1 |
121,389,628 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01845:Ccdc93
|
APN |
1 |
121,390,859 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02156:Ccdc93
|
APN |
1 |
121,376,005 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02610:Ccdc93
|
APN |
1 |
121,420,700 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02691:Ccdc93
|
APN |
1 |
121,414,342 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02796:Ccdc93
|
UTSW |
1 |
121,418,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R0335:Ccdc93
|
UTSW |
1 |
121,420,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R1229:Ccdc93
|
UTSW |
1 |
121,362,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R1387:Ccdc93
|
UTSW |
1 |
121,418,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R1531:Ccdc93
|
UTSW |
1 |
121,408,551 (GRCm39) |
missense |
probably benign |
|
R1559:Ccdc93
|
UTSW |
1 |
121,389,712 (GRCm39) |
splice site |
probably benign |
|
R1728:Ccdc93
|
UTSW |
1 |
121,389,668 (GRCm39) |
missense |
probably benign |
|
R1728:Ccdc93
|
UTSW |
1 |
121,383,855 (GRCm39) |
missense |
probably benign |
|
R1729:Ccdc93
|
UTSW |
1 |
121,389,668 (GRCm39) |
missense |
probably benign |
|
R1729:Ccdc93
|
UTSW |
1 |
121,383,855 (GRCm39) |
missense |
probably benign |
|
R1730:Ccdc93
|
UTSW |
1 |
121,389,668 (GRCm39) |
missense |
probably benign |
|
R1730:Ccdc93
|
UTSW |
1 |
121,383,855 (GRCm39) |
missense |
probably benign |
|
R1739:Ccdc93
|
UTSW |
1 |
121,389,668 (GRCm39) |
missense |
probably benign |
|
R1739:Ccdc93
|
UTSW |
1 |
121,383,855 (GRCm39) |
missense |
probably benign |
|
R1762:Ccdc93
|
UTSW |
1 |
121,389,668 (GRCm39) |
missense |
probably benign |
|
R1762:Ccdc93
|
UTSW |
1 |
121,383,855 (GRCm39) |
missense |
probably benign |
|
R1783:Ccdc93
|
UTSW |
1 |
121,389,668 (GRCm39) |
missense |
probably benign |
|
R1783:Ccdc93
|
UTSW |
1 |
121,383,855 (GRCm39) |
missense |
probably benign |
|
R1785:Ccdc93
|
UTSW |
1 |
121,389,668 (GRCm39) |
missense |
probably benign |
|
R1785:Ccdc93
|
UTSW |
1 |
121,383,855 (GRCm39) |
missense |
probably benign |
|
R1865:Ccdc93
|
UTSW |
1 |
121,426,956 (GRCm39) |
missense |
probably damaging |
0.98 |
R1897:Ccdc93
|
UTSW |
1 |
121,418,941 (GRCm39) |
missense |
probably benign |
0.04 |
R2089:Ccdc93
|
UTSW |
1 |
121,411,071 (GRCm39) |
critical splice donor site |
probably null |
|
R2091:Ccdc93
|
UTSW |
1 |
121,411,071 (GRCm39) |
critical splice donor site |
probably null |
|
R2091:Ccdc93
|
UTSW |
1 |
121,411,071 (GRCm39) |
critical splice donor site |
probably null |
|
R3783:Ccdc93
|
UTSW |
1 |
121,365,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R3820:Ccdc93
|
UTSW |
1 |
121,389,969 (GRCm39) |
missense |
probably damaging |
0.99 |
R3870:Ccdc93
|
UTSW |
1 |
121,390,843 (GRCm39) |
missense |
probably benign |
0.23 |
R5644:Ccdc93
|
UTSW |
1 |
121,411,065 (GRCm39) |
missense |
probably benign |
|
R5896:Ccdc93
|
UTSW |
1 |
121,390,849 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6251:Ccdc93
|
UTSW |
1 |
121,362,269 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7765:Ccdc93
|
UTSW |
1 |
121,427,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R7978:Ccdc93
|
UTSW |
1 |
121,426,960 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8017:Ccdc93
|
UTSW |
1 |
121,375,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R8019:Ccdc93
|
UTSW |
1 |
121,375,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R8369:Ccdc93
|
UTSW |
1 |
121,422,126 (GRCm39) |
missense |
probably benign |
0.03 |
R8369:Ccdc93
|
UTSW |
1 |
121,405,597 (GRCm39) |
missense |
probably damaging |
0.97 |
R8789:Ccdc93
|
UTSW |
1 |
121,424,784 (GRCm39) |
missense |
probably damaging |
0.99 |
R8877:Ccdc93
|
UTSW |
1 |
121,403,867 (GRCm39) |
missense |
probably benign |
|
R8919:Ccdc93
|
UTSW |
1 |
121,426,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R9435:Ccdc93
|
UTSW |
1 |
121,369,584 (GRCm39) |
nonsense |
probably null |
|
R9436:Ccdc93
|
UTSW |
1 |
121,369,584 (GRCm39) |
nonsense |
probably null |
|
R9437:Ccdc93
|
UTSW |
1 |
121,369,584 (GRCm39) |
nonsense |
probably null |
|
R9438:Ccdc93
|
UTSW |
1 |
121,369,584 (GRCm39) |
nonsense |
probably null |
|
X0063:Ccdc93
|
UTSW |
1 |
121,365,535 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1191:Ccdc93
|
UTSW |
1 |
121,403,797 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2016-08-02 |