Incidental Mutation 'R8002:Ccdc81'
| ID |
616411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc81
|
| Ensembl Gene |
ENSMUSG00000039391 |
| Gene Name |
coiled-coil domain containing 81 |
| Synonyms |
4921513D09Rik |
| MMRRC Submission |
046042-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R8002 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
89515356-89552837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89525343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 477
(E477G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041195]
[ENSMUST00000131966]
|
| AlphaFold |
Q9D5W4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041195
AA Change: E477G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044087
Gene: ENSMUSG00000039391
AA Change: E477G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4496
|
29 |
165 |
2.7e-47 |
PFAM |
|
low complexity region
|
224 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
355 |
N/A |
INTRINSIC |
|
coiled coil region
|
434 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
623 |
631 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131966
|
| SMART Domains |
Protein: ENSMUSP00000117788
Gene: ENSMUSG00000039391
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4496
|
28 |
165 |
2e-41 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
C |
T |
7: 119,172,480 (GRCm39) |
R133C |
possibly damaging |
Het |
| Adgrf4 |
T |
C |
17: 42,978,683 (GRCm39) |
E220G |
probably benign |
Het |
| Alx3 |
T |
A |
3: 107,508,055 (GRCm39) |
L188* |
probably null |
Het |
| Arhgef2 |
A |
T |
3: 88,554,117 (GRCm39) |
I969F |
probably damaging |
Het |
| Atf6 |
A |
G |
1: 170,646,823 (GRCm39) |
V350A |
probably benign |
Het |
| Atp1a3 |
C |
A |
7: 24,700,096 (GRCm39) |
G88V |
probably damaging |
Het |
| Brd8 |
T |
C |
18: 34,741,609 (GRCm39) |
T360A |
probably benign |
Het |
| Casp1 |
C |
A |
9: 5,303,164 (GRCm39) |
T206K |
possibly damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,311,656 (GRCm39) |
E214G |
probably damaging |
Het |
| Celsr2 |
G |
T |
3: 108,311,285 (GRCm39) |
R1409S |
probably damaging |
Het |
| Chd6 |
T |
C |
2: 160,832,241 (GRCm39) |
D977G |
probably damaging |
Het |
| Cpne3 |
A |
T |
4: 19,528,232 (GRCm39) |
F342I |
probably damaging |
Het |
| Crot |
A |
C |
5: 9,043,599 (GRCm39) |
S8A |
probably benign |
Het |
| Cyp11b2 |
T |
C |
15: 74,727,881 (GRCm39) |
H67R |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,020,679 (GRCm39) |
L1230H |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,035,558 (GRCm39) |
D24N |
probably damaging |
Het |
| Gabrg3 |
T |
C |
7: 56,384,716 (GRCm39) |
T282A |
possibly damaging |
Het |
| Gm13199 |
A |
G |
2: 5,867,458 (GRCm39) |
S13P |
unknown |
Het |
| Gnptab |
A |
T |
10: 88,276,130 (GRCm39) |
D1139V |
probably benign |
Het |
| Hdac1-ps |
T |
C |
17: 78,799,716 (GRCm39) |
S236P |
probably damaging |
Het |
| Jtb |
T |
C |
3: 90,141,251 (GRCm39) |
S76P |
probably benign |
Het |
| Klk1b27 |
T |
A |
7: 43,705,445 (GRCm39) |
D172E |
probably benign |
Het |
| Lpcat4 |
G |
A |
2: 112,074,699 (GRCm39) |
V307I |
probably benign |
Het |
| Ltn1 |
A |
C |
16: 87,212,835 (GRCm39) |
S575R |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,723,878 (GRCm39) |
T287A |
probably benign |
Het |
| Marco |
T |
G |
1: 120,422,509 (GRCm39) |
I58L |
probably benign |
Het |
| Nadk |
G |
T |
4: 155,661,655 (GRCm39) |
|
probably null |
Het |
| Or11h7 |
A |
T |
14: 50,891,314 (GRCm39) |
I207F |
probably damaging |
Het |
| Otof |
G |
A |
5: 30,537,954 (GRCm39) |
T1215I |
probably benign |
Het |
| Pigw |
A |
T |
11: 84,769,249 (GRCm39) |
C27S |
probably benign |
Het |
| Pla2g10 |
A |
T |
16: 13,542,912 (GRCm39) |
M125K |
unknown |
Het |
| Rfx4 |
A |
C |
10: 84,676,721 (GRCm39) |
M204L |
probably damaging |
Het |
| Septin1 |
T |
C |
7: 126,815,074 (GRCm39) |
D209G |
probably damaging |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slc26a4 |
T |
C |
12: 31,597,969 (GRCm39) |
D159G |
probably benign |
Het |
| Sptbn4 |
C |
A |
7: 27,117,417 (GRCm39) |
S444I |
possibly damaging |
Het |
| Srebf2 |
C |
T |
15: 82,062,966 (GRCm39) |
R468C |
probably damaging |
Het |
| Stard6 |
T |
A |
18: 70,633,597 (GRCm39) |
D201E |
possibly damaging |
Het |
| Tas2r114 |
T |
C |
6: 131,666,102 (GRCm39) |
T309A |
probably damaging |
Het |
| Tdrd6 |
C |
A |
17: 43,940,710 (GRCm39) |
A113S |
probably damaging |
Het |
| Tigd2 |
T |
G |
6: 59,187,494 (GRCm39) |
N120K |
probably damaging |
Het |
| Tomm70a |
A |
G |
16: 56,957,097 (GRCm39) |
N224S |
probably damaging |
Het |
| Tspo |
T |
C |
15: 83,455,640 (GRCm39) |
V9A |
probably benign |
Het |
| Vmn1r21 |
T |
A |
6: 57,821,199 (GRCm39) |
I82L |
probably benign |
Het |
| Vmn2r103 |
T |
A |
17: 20,019,511 (GRCm39) |
C532S |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,879,271 (GRCm39) |
N343S |
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,951,785 (GRCm39) |
K665E |
probably damaging |
Het |
| Xpc |
T |
A |
6: 91,469,287 (GRCm39) |
N820I |
probably damaging |
Het |
| Zfp418 |
A |
G |
7: 7,184,873 (GRCm39) |
T279A |
probably benign |
Het |
|
| Other mutations in Ccdc81 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00763:Ccdc81
|
APN |
7 |
89,518,823 (GRCm39) |
splice site |
probably benign |
|
|
IGL01948:Ccdc81
|
APN |
7 |
89,525,063 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02177:Ccdc81
|
APN |
7 |
89,524,988 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02396:Ccdc81
|
APN |
7 |
89,530,857 (GRCm39) |
missense |
probably benign |
|
|
IGL02420:Ccdc81
|
APN |
7 |
89,524,946 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02536:Ccdc81
|
APN |
7 |
89,526,788 (GRCm39) |
splice site |
probably benign |
|
|
IGL03195:Ccdc81
|
APN |
7 |
89,545,916 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03397:Ccdc81
|
APN |
7 |
89,546,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I0000:Ccdc81
|
UTSW |
7 |
89,547,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0089:Ccdc81
|
UTSW |
7 |
89,542,324 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0409:Ccdc81
|
UTSW |
7 |
89,535,423 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0449:Ccdc81
|
UTSW |
7 |
89,539,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0490:Ccdc81
|
UTSW |
7 |
89,536,970 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0511:Ccdc81
|
UTSW |
7 |
89,542,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0562:Ccdc81
|
UTSW |
7 |
89,552,437 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0801:Ccdc81
|
UTSW |
7 |
89,536,866 (GRCm39) |
splice site |
probably null |
|
|
R0944:Ccdc81
|
UTSW |
7 |
89,515,777 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1006:Ccdc81
|
UTSW |
7 |
89,515,769 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1334:Ccdc81
|
UTSW |
7 |
89,515,769 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1526:Ccdc81
|
UTSW |
7 |
89,525,081 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1623:Ccdc81
|
UTSW |
7 |
89,535,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1753:Ccdc81
|
UTSW |
7 |
89,515,769 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1885:Ccdc81
|
UTSW |
7 |
89,515,819 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1886:Ccdc81
|
UTSW |
7 |
89,515,819 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1887:Ccdc81
|
UTSW |
7 |
89,515,819 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1889:Ccdc81
|
UTSW |
7 |
89,531,502 (GRCm39) |
nonsense |
probably null |
|
|
R1964:Ccdc81
|
UTSW |
7 |
89,535,361 (GRCm39) |
missense |
probably benign |
|
|
R1997:Ccdc81
|
UTSW |
7 |
89,547,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3725:Ccdc81
|
UTSW |
7 |
89,515,838 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5494:Ccdc81
|
UTSW |
7 |
89,526,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5660:Ccdc81
|
UTSW |
7 |
89,542,337 (GRCm39) |
missense |
probably benign |
|
|
R6275:Ccdc81
|
UTSW |
7 |
89,531,519 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6434:Ccdc81
|
UTSW |
7 |
89,525,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6711:Ccdc81
|
UTSW |
7 |
89,537,006 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7287:Ccdc81
|
UTSW |
7 |
89,542,331 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7582:Ccdc81
|
UTSW |
7 |
89,525,353 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7914:Ccdc81
|
UTSW |
7 |
89,524,988 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7976:Ccdc81
|
UTSW |
7 |
89,515,723 (GRCm39) |
nonsense |
probably null |
|
|
R7977:Ccdc81
|
UTSW |
7 |
89,525,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7987:Ccdc81
|
UTSW |
7 |
89,525,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7991:Ccdc81
|
UTSW |
7 |
89,539,609 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8309:Ccdc81
|
UTSW |
7 |
89,526,786 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9031:Ccdc81
|
UTSW |
7 |
89,542,358 (GRCm39) |
missense |
probably benign |
0.03 |
|
RF018:Ccdc81
|
UTSW |
7 |
89,515,906 (GRCm39) |
splice site |
probably null |
|
|
X0061:Ccdc81
|
UTSW |
7 |
89,526,697 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Ccdc81
|
UTSW |
7 |
89,530,865 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAACAGGGCCTCAGAAC -3'
(R):5'- GTGAAGACACAGTGTGCTTGAG -3'
Sequencing Primer
(F):5'- CCTACCAAACATATGGCATGCATG -3'
(R):5'- TTAGAGCCCTCAGAATGAAAGAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation