Incidental Mutation 'IGL02691:Ccdc93'
| ID |
303764 |
| 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 # |
IGL02691
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
121358796-121434189 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121414342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 451
(D451G)
|
| 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: D452G
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000043442
Gene: ENSMUSG00000026339
AA Change: D452G
| 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: D451G
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108240
Gene: ENSMUSG00000026339
AA Change: D451G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152863
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152959
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,655,457 (GRCm39) |
S40P |
probably benign |
Het |
| Actl9 |
G |
T |
17: 33,652,092 (GRCm39) |
V51L |
probably damaging |
Het |
| Adcy6 |
A |
T |
15: 98,502,185 (GRCm39) |
F143Y |
probably damaging |
Het |
| Agps |
A |
T |
2: 75,722,204 (GRCm39) |
I465F |
probably benign |
Het |
| Armc3 |
T |
A |
2: 19,240,295 (GRCm39) |
F17L |
probably damaging |
Het |
| Arsk |
A |
C |
13: 76,223,069 (GRCm39) |
M176R |
probably damaging |
Het |
| Asz1 |
G |
A |
6: 18,076,556 (GRCm39) |
T212I |
probably damaging |
Het |
| Atp6v1a |
A |
G |
16: 43,931,982 (GRCm39) |
I102T |
probably damaging |
Het |
| Bpifb6 |
T |
A |
2: 153,744,565 (GRCm39) |
L2Q |
unknown |
Het |
| Cad |
A |
G |
5: 31,212,638 (GRCm39) |
Y45C |
probably damaging |
Het |
| Cenpj |
A |
G |
14: 56,789,547 (GRCm39) |
I834T |
probably benign |
Het |
| Cyp2j12 |
C |
T |
4: 96,021,231 (GRCm39) |
|
probably null |
Het |
| Dhx8 |
G |
A |
11: 101,642,830 (GRCm39) |
|
probably benign |
Het |
| Dync1i1 |
A |
G |
6: 5,800,767 (GRCm39) |
|
probably benign |
Het |
| Ell2 |
T |
A |
13: 75,904,605 (GRCm39) |
D99E |
probably damaging |
Het |
| Enpp1 |
G |
T |
10: 24,587,790 (GRCm39) |
P34T |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,892,564 (GRCm39) |
V2888E |
possibly damaging |
Het |
| Gmfg |
A |
G |
7: 28,144,295 (GRCm39) |
Y40C |
probably damaging |
Het |
| Gnal |
T |
C |
18: 67,355,746 (GRCm39) |
I369T |
probably damaging |
Het |
| Gzmn |
T |
C |
14: 56,404,370 (GRCm39) |
T156A |
probably benign |
Het |
| H2-DMb2 |
A |
T |
17: 34,366,832 (GRCm39) |
H88L |
probably benign |
Het |
| Ighv7-3 |
T |
C |
12: 114,117,016 (GRCm39) |
T49A |
probably benign |
Het |
| Jakmip3 |
C |
T |
7: 138,628,573 (GRCm39) |
Q450* |
probably null |
Het |
| Klhl20 |
A |
T |
1: 160,934,444 (GRCm39) |
|
probably benign |
Het |
| Klk6 |
A |
G |
7: 43,477,924 (GRCm39) |
T99A |
probably benign |
Het |
| Lhx3 |
A |
G |
2: 26,093,097 (GRCm39) |
C118R |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,803,655 (GRCm39) |
|
probably benign |
Het |
| Naa15 |
A |
G |
3: 51,358,747 (GRCm39) |
E294G |
probably damaging |
Het |
| Nfia |
C |
T |
4: 97,970,045 (GRCm39) |
Q373* |
probably null |
Het |
| Notch2 |
C |
A |
3: 98,042,923 (GRCm39) |
Y1429* |
probably null |
Het |
| Oc90 |
A |
G |
15: 65,754,410 (GRCm39) |
S252P |
probably damaging |
Het |
| Or56a3b |
A |
G |
7: 104,771,338 (GRCm39) |
I225V |
probably damaging |
Het |
| Or8k37 |
T |
C |
2: 86,469,182 (GRCm39) |
Y290C |
probably damaging |
Het |
| Pde3b |
T |
A |
7: 114,107,320 (GRCm39) |
|
probably benign |
Het |
| Pdss1 |
G |
A |
2: 22,805,253 (GRCm39) |
V211I |
probably benign |
Het |
| Phactr1 |
G |
T |
13: 43,231,213 (GRCm39) |
M226I |
probably benign |
Het |
| Phf11c |
A |
G |
14: 59,622,236 (GRCm39) |
S259P |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,476,713 (GRCm39) |
N269S |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,228,688 (GRCm39) |
V229A |
possibly damaging |
Het |
| Plcb2 |
T |
C |
2: 118,541,444 (GRCm39) |
K997R |
probably benign |
Het |
| Ppm1m |
A |
T |
9: 106,072,568 (GRCm39) |
V449E |
probably damaging |
Het |
| Ppp1r36dn |
T |
C |
12: 76,498,073 (GRCm39) |
|
noncoding transcript |
Het |
| Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
| Rgs14 |
A |
G |
13: 55,526,836 (GRCm39) |
|
probably null |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Scamp5 |
G |
T |
9: 57,358,660 (GRCm39) |
R39S |
probably damaging |
Het |
| Slc5a6 |
C |
T |
5: 31,199,518 (GRCm39) |
V15I |
probably damaging |
Het |
| Snx25 |
A |
T |
8: 46,558,302 (GRCm39) |
V235E |
possibly damaging |
Het |
| Tdrd1 |
G |
T |
19: 56,832,284 (GRCm39) |
E400D |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,539,544 (GRCm39) |
R1593G |
probably benign |
Het |
| Trdv2-2 |
T |
C |
14: 54,199,039 (GRCm39) |
F110L |
possibly damaging |
Het |
| Ush2a |
A |
C |
1: 188,466,949 (GRCm39) |
Y2871S |
probably damaging |
Het |
| Vars2 |
A |
C |
17: 35,971,140 (GRCm39) |
L592R |
probably damaging |
Het |
| Vipr2 |
T |
A |
12: 116,099,849 (GRCm39) |
C239S |
probably benign |
Het |
| Vmn1r200 |
A |
T |
13: 22,579,428 (GRCm39) |
D68V |
probably damaging |
Het |
| Vmn1r7 |
A |
T |
6: 57,001,373 (GRCm39) |
S296T |
probably benign |
Het |
| Vmn2r95 |
T |
C |
17: 18,672,120 (GRCm39) |
I619T |
probably benign |
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 |
|
IGL03003:Ccdc93
|
APN |
1 |
121,390,846 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
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 |
2015-04-16 |
Incidental Mutation