Incidental Mutation 'R9437:Ccdc93'
| ID |
713310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc93
|
| Ensembl Gene |
ENSMUSG00000026339 |
| Gene Name |
coiled-coil domain containing 93 |
| Synonyms |
9230102M16Rik, 4633402D15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.865)
|
| Stock # |
R9437 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
121358796-121434189 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 121369584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 109
(Q109*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036025]
[ENSMUST00000112621]
|
| AlphaFold |
Q7TQK5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036025
AA Change: Q109*
|
| SMART Domains |
Protein: ENSMUSP00000043442
Gene: ENSMUSG00000026339
AA Change: Q109*
| 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 |
probably null
Transcript: ENSMUST00000112621
AA Change: Q109*
|
| SMART Domains |
Protein: ENSMUSP00000108240
Gene: ENSMUSG00000026339
AA Change: Q109*
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
T |
C |
17: 32,553,608 (GRCm39) |
S371G |
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,162,158 (GRCm39) |
S2255P |
probably benign |
Het |
| Copa |
G |
A |
1: 171,931,712 (GRCm39) |
R321H |
possibly damaging |
Het |
| Cyp2b23 |
A |
T |
7: 26,372,199 (GRCm39) |
D415E |
possibly damaging |
Het |
| Dcun1d2 |
T |
C |
8: 13,331,004 (GRCm39) |
D42G |
probably benign |
Het |
| Ebf4 |
T |
A |
2: 130,202,005 (GRCm39) |
S325T |
probably benign |
Het |
| Ergic2 |
T |
C |
6: 148,097,562 (GRCm39) |
E137G |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,813,872 (GRCm39) |
S1304P |
probably benign |
Het |
| Fam24b |
A |
T |
7: 130,927,893 (GRCm39) |
C99S |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,945,417 (GRCm39) |
T1437A |
probably benign |
Het |
| Fgd5 |
A |
G |
6: 91,964,627 (GRCm39) |
T287A |
probably benign |
Het |
| Fscb |
G |
T |
12: 64,519,708 (GRCm39) |
A586E |
unknown |
Het |
| Gm2244 |
A |
T |
14: 19,599,038 (GRCm39) |
I86N |
probably damaging |
Het |
| Hnrnph3 |
T |
A |
10: 62,854,627 (GRCm39) |
R55* |
probably null |
Het |
| Kcnk5 |
A |
C |
14: 20,192,468 (GRCm39) |
I231S |
probably damaging |
Het |
| Krt10 |
A |
G |
11: 99,276,390 (GRCm39) |
M87T |
probably benign |
Het |
| Ly6c2 |
C |
G |
15: 74,983,535 (GRCm39) |
|
probably benign |
Het |
| Map4 |
C |
A |
9: 109,864,155 (GRCm39) |
T460K |
possibly damaging |
Het |
| Mok |
A |
G |
12: 110,774,659 (GRCm39) |
C388R |
probably benign |
Het |
| Ms4a3 |
T |
C |
19: 11,607,065 (GRCm39) |
D200G |
possibly damaging |
Het |
| Ncapd2 |
A |
G |
6: 125,153,655 (GRCm39) |
Y687H |
probably damaging |
Het |
| Nrp1 |
A |
G |
8: 129,187,108 (GRCm39) |
T385A |
probably benign |
Het |
| Or2w25 |
T |
C |
11: 59,504,195 (GRCm39) |
M135T |
possibly damaging |
Het |
| Or56a41 |
A |
T |
7: 104,739,963 (GRCm39) |
Y294* |
probably null |
Het |
| Osbp2 |
A |
G |
11: 3,664,581 (GRCm39) |
S131P |
probably damaging |
Het |
| Pcdhga3 |
G |
A |
18: 37,808,144 (GRCm39) |
R199H |
probably damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pigx |
G |
T |
16: 31,918,310 (GRCm39) |
D26E |
probably benign |
Het |
| Pkn3 |
T |
C |
2: 29,973,267 (GRCm39) |
I363T |
possibly damaging |
Het |
| Psg16 |
T |
A |
7: 16,827,715 (GRCm39) |
Y133N |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,246,925 (GRCm39) |
I407T |
probably damaging |
Het |
| Rc3h2 |
G |
A |
2: 37,272,841 (GRCm39) |
A745V |
possibly damaging |
Het |
| Srgap1 |
T |
C |
10: 121,636,777 (GRCm39) |
E703G |
probably benign |
Het |
| Susd4 |
T |
C |
1: 182,681,697 (GRCm39) |
|
probably null |
Het |
| Tbpl1 |
T |
C |
10: 22,587,838 (GRCm39) |
N37S |
probably damaging |
Het |
| Tex264 |
T |
C |
9: 106,559,096 (GRCm39) |
I77V |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAGGTCTGTCACTGTCAC -3'
(R):5'- ACACTACACCTAGGGTCCAG -3'
Sequencing Primer
(F):5'- GTCACTGTCACCCTGACCAG -3'
(R):5'- ACGCTACACCTAGGGTCCAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation