Incidental Mutation 'R2091:Ccdc93'
ID |
231753 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc93
|
Ensembl Gene |
ENSMUSG00000026339 |
Gene Name |
coiled-coil domain containing 93 |
Synonyms |
9230102M16Rik, 4633402D15Rik |
MMRRC Submission |
040096-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.865)
|
Stock # |
R2091 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
121358796-121434189 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 121411071 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108240
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036025]
[ENSMUST00000112621]
|
AlphaFold |
Q7TQK5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000036025
|
SMART Domains |
Protein: ENSMUSP00000043442 Gene: ENSMUSG00000026339
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
|
SMART Domains |
Protein: ENSMUSP00000108240 Gene: ENSMUSG00000026339
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 |
|
Meta Mutation Damage Score |
0.9483 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (50/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
G |
C |
2: 19,522,357 (GRCm39) |
N247K |
probably damaging |
Het |
4930402F06Rik |
T |
C |
2: 35,266,079 (GRCm39) |
K197R |
probably benign |
Het |
Adam9 |
A |
T |
8: 25,485,200 (GRCm39) |
|
probably benign |
Het |
Adgrl1 |
T |
C |
8: 84,661,093 (GRCm39) |
I862T |
probably damaging |
Het |
Agbl1 |
G |
A |
7: 76,239,248 (GRCm39) |
V583M |
probably damaging |
Het |
Angpt4 |
A |
T |
2: 151,778,703 (GRCm39) |
|
probably benign |
Het |
Apba2 |
T |
A |
7: 64,345,341 (GRCm39) |
V177D |
probably benign |
Het |
Atg14 |
A |
T |
14: 47,780,352 (GRCm39) |
I474N |
probably damaging |
Het |
Bicdl1 |
A |
G |
5: 115,862,638 (GRCm39) |
S206P |
probably damaging |
Het |
Bltp1 |
C |
T |
3: 37,042,405 (GRCm39) |
T2797I |
probably damaging |
Het |
Calhm3 |
T |
A |
19: 47,140,430 (GRCm39) |
D221V |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dido1 |
A |
T |
2: 180,303,677 (GRCm39) |
V1409E |
probably benign |
Het |
Dsc2 |
G |
A |
18: 20,166,351 (GRCm39) |
T760I |
possibly damaging |
Het |
Etnk2 |
T |
G |
1: 133,304,791 (GRCm39) |
|
probably null |
Het |
Gbp7 |
A |
T |
3: 142,240,383 (GRCm39) |
I34F |
probably damaging |
Het |
Gbp7 |
A |
T |
3: 142,251,316 (GRCm39) |
|
probably benign |
Het |
Gpr37 |
A |
G |
6: 25,689,062 (GRCm39) |
S12P |
possibly damaging |
Het |
Grxcr1 |
T |
C |
5: 68,267,755 (GRCm39) |
I168T |
probably damaging |
Het |
Hat1 |
T |
C |
2: 71,264,378 (GRCm39) |
V272A |
probably benign |
Het |
Hook3 |
A |
T |
8: 26,549,422 (GRCm39) |
|
probably benign |
Het |
Igkv8-30 |
A |
C |
6: 70,094,070 (GRCm39) |
C114G |
probably damaging |
Het |
Lrrc4 |
T |
G |
6: 28,830,586 (GRCm39) |
D343A |
probably benign |
Het |
Mars1 |
A |
G |
10: 127,135,154 (GRCm39) |
S646P |
probably damaging |
Het |
Mterf1b |
A |
T |
5: 4,247,057 (GRCm39) |
T233S |
possibly damaging |
Het |
Myrf |
A |
T |
19: 10,201,964 (GRCm39) |
V171D |
possibly damaging |
Het |
Nbas |
G |
A |
12: 13,411,046 (GRCm39) |
D897N |
probably benign |
Het |
Nfx1 |
T |
C |
4: 40,977,004 (GRCm39) |
V226A |
probably benign |
Het |
Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
Ntrk2 |
A |
G |
13: 59,007,115 (GRCm39) |
H239R |
possibly damaging |
Het |
Or10g9 |
T |
C |
9: 39,912,500 (GRCm39) |
T8A |
probably benign |
Het |
Pcdhb18 |
T |
C |
18: 37,623,653 (GRCm39) |
S328P |
probably damaging |
Het |
Pigm |
T |
C |
1: 172,205,100 (GRCm39) |
Y279H |
probably damaging |
Het |
Pik3cd |
A |
G |
4: 149,737,156 (GRCm39) |
L880P |
probably damaging |
Het |
Plaat3 |
A |
G |
19: 7,556,474 (GRCm39) |
I92V |
probably damaging |
Het |
Polh |
A |
T |
17: 46,492,380 (GRCm39) |
|
probably benign |
Het |
Prom1 |
T |
C |
5: 44,171,428 (GRCm39) |
|
probably benign |
Het |
Ptger4 |
T |
A |
15: 5,272,326 (GRCm39) |
I98F |
possibly damaging |
Het |
Rasl11a |
T |
A |
5: 146,783,927 (GRCm39) |
I124N |
probably damaging |
Het |
Rest |
A |
G |
5: 77,429,126 (GRCm39) |
K515R |
possibly damaging |
Het |
Ryr1 |
A |
G |
7: 28,785,474 (GRCm39) |
L1746P |
probably damaging |
Het |
Ryr2 |
G |
T |
13: 11,960,863 (GRCm39) |
T25K |
probably benign |
Het |
Serpina3g |
A |
T |
12: 104,205,417 (GRCm39) |
D52V |
probably damaging |
Het |
Skint6 |
T |
C |
4: 112,703,881 (GRCm39) |
N998S |
probably benign |
Het |
Sntg1 |
T |
A |
1: 8,665,763 (GRCm39) |
T184S |
probably benign |
Het |
Ssbp1 |
A |
G |
6: 40,453,433 (GRCm39) |
Y73C |
probably null |
Het |
Suclg1 |
A |
G |
6: 73,241,259 (GRCm39) |
K193R |
probably benign |
Het |
Tnrc18 |
A |
C |
5: 142,759,396 (GRCm39) |
S813R |
unknown |
Het |
Tnrc6a |
T |
C |
7: 122,771,343 (GRCm39) |
|
probably null |
Het |
Trap1 |
A |
C |
16: 3,863,903 (GRCm39) |
Y472* |
probably null |
Het |
Trpm8 |
T |
C |
1: 88,271,048 (GRCm39) |
I446T |
probably damaging |
Het |
Tti2 |
T |
C |
8: 31,644,294 (GRCm39) |
L297P |
probably damaging |
Het |
Umodl1 |
A |
G |
17: 31,190,893 (GRCm39) |
M247V |
probably benign |
Het |
Unc80 |
T |
A |
1: 66,710,874 (GRCm39) |
|
probably benign |
Het |
Zfp174 |
A |
G |
16: 3,672,506 (GRCm39) |
R352G |
possibly damaging |
Het |
Zfp955a |
T |
A |
17: 33,461,731 (GRCm39) |
K134* |
probably null |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGCCTATAAATGTGTATTCCCC -3'
(R):5'- CAGCAGCGCAGACTATACAG -3'
Sequencing Primer
(F):5'- AGCATGAGCACCTGAGTTC -3'
(R):5'- CTATACAGAGGAGGCAGCAACAC -3'
|
Posted On |
2014-09-18 |