Incidental Mutation 'R5966:Ccdc110'
ID |
472101 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc110
|
Ensembl Gene |
ENSMUSG00000071104 |
Gene Name |
coiled-coil domain containing 110 |
Synonyms |
LOC212392 |
MMRRC Submission |
044151-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R5966 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
46387656-46397182 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 46395573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 488
(E488G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092964
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095326]
[ENSMUST00000174815]
|
AlphaFold |
Q3V125 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095326
AA Change: E488G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000092964 Gene: ENSMUSG00000071104 AA Change: E488G
Domain | Start | End | E-Value | Type |
coiled coil region
|
442 |
794 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174815
|
Meta Mutation Damage Score |
0.1384 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
Validation Efficiency |
94% (79/84) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930009A15Rik |
A |
T |
10: 115,415,717 (GRCm39) |
|
probably benign |
Het |
Acaa2 |
T |
C |
18: 74,937,223 (GRCm39) |
L369S |
probably damaging |
Het |
Akna |
A |
G |
4: 63,313,140 (GRCm39) |
S328P |
probably damaging |
Het |
Albfm1 |
A |
G |
5: 90,719,546 (GRCm39) |
Y214C |
probably damaging |
Het |
Apc |
A |
G |
18: 34,354,140 (GRCm39) |
|
probably benign |
Het |
Brca2 |
C |
T |
5: 150,466,716 (GRCm39) |
T2160I |
probably damaging |
Het |
Camsap2 |
A |
G |
1: 136,204,330 (GRCm39) |
S1251P |
probably damaging |
Het |
Ccdc158 |
T |
A |
5: 92,797,908 (GRCm39) |
I411F |
probably damaging |
Het |
Cd163 |
C |
T |
6: 124,297,595 (GRCm39) |
Q914* |
probably null |
Het |
Cd22 |
T |
C |
7: 30,566,083 (GRCm39) |
D827G |
probably damaging |
Het |
Ces1e |
A |
G |
8: 93,946,001 (GRCm39) |
|
probably null |
Het |
Col14a1 |
T |
C |
15: 55,315,779 (GRCm39) |
|
probably null |
Het |
Csmd3 |
T |
A |
15: 47,713,135 (GRCm39) |
D1509V |
probably damaging |
Het |
Ddx51 |
A |
G |
5: 110,804,717 (GRCm39) |
D543G |
probably damaging |
Het |
Diaph3 |
T |
A |
14: 87,222,261 (GRCm39) |
I408F |
probably damaging |
Het |
Dld |
G |
A |
12: 31,390,325 (GRCm39) |
P213L |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,037,262 (GRCm39) |
T3327A |
probably benign |
Het |
Dnttip2 |
T |
A |
3: 122,078,817 (GRCm39) |
|
probably benign |
Het |
Dock10 |
T |
C |
1: 80,546,225 (GRCm39) |
E791G |
possibly damaging |
Het |
Ehd3 |
G |
T |
17: 74,134,356 (GRCm39) |
W238C |
probably damaging |
Het |
Ehd3 |
T |
G |
17: 74,134,361 (GRCm39) |
L240R |
probably damaging |
Het |
Ep400 |
A |
G |
5: 110,824,766 (GRCm39) |
V2357A |
unknown |
Het |
Fam20c |
T |
C |
5: 138,741,932 (GRCm39) |
V181A |
probably damaging |
Het |
Gm4781 |
T |
C |
10: 100,232,814 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch8 |
A |
T |
11: 102,371,058 (GRCm39) |
S827T |
unknown |
Het |
Grm3 |
A |
T |
5: 9,561,930 (GRCm39) |
I640N |
probably damaging |
Het |
Gstm7 |
A |
G |
3: 107,838,747 (GRCm39) |
|
probably benign |
Het |
Hdac7 |
G |
T |
15: 97,700,372 (GRCm39) |
H572Q |
probably damaging |
Het |
Ift140 |
C |
T |
17: 25,313,735 (GRCm39) |
Q1389* |
probably null |
Het |
Igfn1 |
A |
G |
1: 135,893,152 (GRCm39) |
V2099A |
probably damaging |
Het |
Ik |
A |
G |
18: 36,888,531 (GRCm39) |
N443S |
possibly damaging |
Het |
Impact |
A |
G |
18: 13,123,601 (GRCm39) |
K315E |
probably benign |
Het |
Insr |
C |
A |
8: 3,308,697 (GRCm39) |
R113L |
probably benign |
Het |
Jak2 |
T |
A |
19: 29,260,954 (GRCm39) |
Y317N |
possibly damaging |
Het |
Kif18a |
T |
A |
2: 109,122,411 (GRCm39) |
V162E |
probably damaging |
Het |
L3mbtl3 |
A |
G |
10: 26,207,762 (GRCm39) |
V319A |
unknown |
Het |
Lepr |
T |
C |
4: 101,649,324 (GRCm39) |
|
probably benign |
Het |
Lmo7 |
C |
T |
14: 102,137,938 (GRCm39) |
T647I |
possibly damaging |
Het |
Mindy3 |
C |
T |
2: 12,405,854 (GRCm39) |
R147Q |
probably benign |
Het |
Mtr |
T |
C |
13: 12,230,453 (GRCm39) |
|
probably null |
Het |
Muc4 |
A |
T |
16: 32,576,652 (GRCm39) |
|
probably benign |
Het |
Nrip1 |
G |
A |
16: 76,090,471 (GRCm39) |
T362M |
possibly damaging |
Het |
Or1j17 |
G |
T |
2: 36,578,074 (GRCm39) |
R20L |
probably null |
Het |
Or1q1 |
T |
C |
2: 36,886,957 (GRCm39) |
I45T |
possibly damaging |
Het |
Or5d45 |
A |
G |
2: 88,153,222 (GRCm39) |
S276P |
probably benign |
Het |
Ovol1 |
G |
A |
19: 5,601,630 (GRCm39) |
R131C |
probably damaging |
Het |
Pcca |
T |
C |
14: 122,905,998 (GRCm39) |
V323A |
probably damaging |
Het |
Pcdhb14 |
A |
T |
18: 37,581,295 (GRCm39) |
M134L |
probably benign |
Het |
Pecam1 |
G |
A |
11: 106,581,887 (GRCm39) |
T252M |
probably benign |
Het |
Rnd3 |
T |
A |
2: 51,022,536 (GRCm39) |
I169F |
probably damaging |
Het |
Rnmt |
T |
A |
18: 68,444,689 (GRCm39) |
D219E |
probably benign |
Het |
Rufy1 |
A |
T |
11: 50,292,315 (GRCm39) |
F491L |
probably benign |
Het |
Ryr2 |
G |
T |
13: 11,677,124 (GRCm39) |
C3242* |
probably null |
Het |
Smurf2 |
G |
T |
11: 106,766,727 (GRCm39) |
R31S |
possibly damaging |
Het |
Sptbn1 |
A |
G |
11: 30,074,873 (GRCm39) |
I1333T |
probably damaging |
Het |
Stard9 |
G |
A |
2: 120,527,580 (GRCm39) |
C1279Y |
probably damaging |
Het |
Sugp2 |
T |
C |
8: 70,704,753 (GRCm39) |
|
probably null |
Het |
Sulf1 |
A |
T |
1: 12,929,636 (GRCm39) |
D301V |
probably benign |
Het |
Tbcd |
G |
T |
11: 121,492,737 (GRCm39) |
|
probably benign |
Het |
Tlr11 |
T |
C |
14: 50,599,712 (GRCm39) |
I566T |
probably benign |
Het |
Tm9sf2 |
T |
A |
14: 122,374,921 (GRCm39) |
|
probably benign |
Het |
Tnfaip8l1 |
T |
C |
17: 56,478,799 (GRCm39) |
F30L |
probably benign |
Het |
Trav15-2-dv6-2 |
T |
A |
14: 53,887,433 (GRCm39) |
C118S |
probably damaging |
Het |
Ttc13 |
A |
G |
8: 125,408,959 (GRCm39) |
|
probably benign |
Het |
Ubqln3 |
A |
T |
7: 103,790,906 (GRCm39) |
S395T |
probably benign |
Het |
Urb2 |
A |
G |
8: 124,754,827 (GRCm39) |
D178G |
probably benign |
Het |
Usf3 |
A |
G |
16: 44,041,222 (GRCm39) |
I1901V |
probably benign |
Het |
Vmn1r173 |
A |
T |
7: 23,402,112 (GRCm39) |
I116F |
probably benign |
Het |
Vmn1r69 |
T |
A |
7: 10,314,717 (GRCm39) |
T5S |
probably benign |
Het |
Wbp1l |
C |
T |
19: 46,642,619 (GRCm39) |
R191* |
probably null |
Het |
Wfikkn2 |
C |
T |
11: 94,129,688 (GRCm39) |
R151H |
probably damaging |
Het |
|
Other mutations in Ccdc110 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01898:Ccdc110
|
APN |
8 |
46,395,161 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL02175:Ccdc110
|
APN |
8 |
46,393,660 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02471:Ccdc110
|
APN |
8 |
46,394,793 (GRCm39) |
missense |
probably benign |
0.14 |
IGL02524:Ccdc110
|
APN |
8 |
46,394,979 (GRCm39) |
missense |
probably benign |
|
IGL02887:Ccdc110
|
APN |
8 |
46,396,221 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03227:Ccdc110
|
APN |
8 |
46,394,586 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03238:Ccdc110
|
APN |
8 |
46,394,859 (GRCm39) |
missense |
probably benign |
0.00 |
droll
|
UTSW |
8 |
46,395,864 (GRCm39) |
missense |
probably benign |
0.10 |
humorless
|
UTSW |
8 |
46,396,487 (GRCm39) |
missense |
probably benign |
0.03 |
R0049:Ccdc110
|
UTSW |
8 |
46,395,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R0049:Ccdc110
|
UTSW |
8 |
46,395,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R0110:Ccdc110
|
UTSW |
8 |
46,388,194 (GRCm39) |
missense |
probably benign |
0.00 |
R0189:Ccdc110
|
UTSW |
8 |
46,388,119 (GRCm39) |
missense |
probably damaging |
0.98 |
R0218:Ccdc110
|
UTSW |
8 |
46,387,761 (GRCm39) |
splice site |
probably benign |
|
R0280:Ccdc110
|
UTSW |
8 |
46,396,487 (GRCm39) |
missense |
probably benign |
0.03 |
R0332:Ccdc110
|
UTSW |
8 |
46,396,001 (GRCm39) |
nonsense |
probably null |
|
R0371:Ccdc110
|
UTSW |
8 |
46,395,843 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0469:Ccdc110
|
UTSW |
8 |
46,388,194 (GRCm39) |
missense |
probably benign |
0.00 |
R0502:Ccdc110
|
UTSW |
8 |
46,387,761 (GRCm39) |
splice site |
probably benign |
|
R0510:Ccdc110
|
UTSW |
8 |
46,388,194 (GRCm39) |
missense |
probably benign |
0.00 |
R0534:Ccdc110
|
UTSW |
8 |
46,388,175 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0647:Ccdc110
|
UTSW |
8 |
46,396,425 (GRCm39) |
missense |
probably damaging |
0.99 |
R0714:Ccdc110
|
UTSW |
8 |
46,396,047 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0721:Ccdc110
|
UTSW |
8 |
46,395,026 (GRCm39) |
missense |
probably benign |
|
R1029:Ccdc110
|
UTSW |
8 |
46,394,817 (GRCm39) |
missense |
probably damaging |
0.98 |
R1147:Ccdc110
|
UTSW |
8 |
46,397,121 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1147:Ccdc110
|
UTSW |
8 |
46,397,121 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1170:Ccdc110
|
UTSW |
8 |
46,394,922 (GRCm39) |
missense |
probably benign |
0.22 |
R1340:Ccdc110
|
UTSW |
8 |
46,395,218 (GRCm39) |
missense |
probably benign |
0.02 |
R1540:Ccdc110
|
UTSW |
8 |
46,395,362 (GRCm39) |
nonsense |
probably null |
|
R1587:Ccdc110
|
UTSW |
8 |
46,394,783 (GRCm39) |
missense |
probably benign |
0.01 |
R1602:Ccdc110
|
UTSW |
8 |
46,391,955 (GRCm39) |
missense |
probably benign |
0.12 |
R1629:Ccdc110
|
UTSW |
8 |
46,395,164 (GRCm39) |
missense |
probably benign |
0.08 |
R1842:Ccdc110
|
UTSW |
8 |
46,393,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R1933:Ccdc110
|
UTSW |
8 |
46,396,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R1934:Ccdc110
|
UTSW |
8 |
46,396,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R2006:Ccdc110
|
UTSW |
8 |
46,396,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R2043:Ccdc110
|
UTSW |
8 |
46,395,864 (GRCm39) |
missense |
probably benign |
0.10 |
R2093:Ccdc110
|
UTSW |
8 |
46,395,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R2165:Ccdc110
|
UTSW |
8 |
46,395,876 (GRCm39) |
missense |
probably benign |
0.00 |
R3613:Ccdc110
|
UTSW |
8 |
46,395,843 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3923:Ccdc110
|
UTSW |
8 |
46,395,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R4648:Ccdc110
|
UTSW |
8 |
46,395,705 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4773:Ccdc110
|
UTSW |
8 |
46,396,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R4901:Ccdc110
|
UTSW |
8 |
46,396,437 (GRCm39) |
missense |
probably benign |
0.35 |
R4911:Ccdc110
|
UTSW |
8 |
46,395,944 (GRCm39) |
missense |
probably benign |
0.00 |
R4923:Ccdc110
|
UTSW |
8 |
46,396,460 (GRCm39) |
missense |
probably benign |
0.29 |
R5104:Ccdc110
|
UTSW |
8 |
46,395,729 (GRCm39) |
missense |
probably damaging |
0.99 |
R5561:Ccdc110
|
UTSW |
8 |
46,393,646 (GRCm39) |
missense |
probably benign |
0.02 |
R5976:Ccdc110
|
UTSW |
8 |
46,396,536 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6141:Ccdc110
|
UTSW |
8 |
46,394,807 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6326:Ccdc110
|
UTSW |
8 |
46,395,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R6366:Ccdc110
|
UTSW |
8 |
46,396,425 (GRCm39) |
missense |
probably damaging |
0.99 |
R6405:Ccdc110
|
UTSW |
8 |
46,394,734 (GRCm39) |
nonsense |
probably null |
|
R6482:Ccdc110
|
UTSW |
8 |
46,395,825 (GRCm39) |
missense |
probably benign |
0.00 |
R6815:Ccdc110
|
UTSW |
8 |
46,395,024 (GRCm39) |
missense |
probably benign |
0.19 |
R7387:Ccdc110
|
UTSW |
8 |
46,395,233 (GRCm39) |
missense |
probably benign |
0.00 |
R7680:Ccdc110
|
UTSW |
8 |
46,394,688 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8099:Ccdc110
|
UTSW |
8 |
46,395,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R8114:Ccdc110
|
UTSW |
8 |
46,396,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R8151:Ccdc110
|
UTSW |
8 |
46,395,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R8295:Ccdc110
|
UTSW |
8 |
46,396,416 (GRCm39) |
missense |
probably damaging |
0.97 |
R8532:Ccdc110
|
UTSW |
8 |
46,396,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R9072:Ccdc110
|
UTSW |
8 |
46,395,875 (GRCm39) |
missense |
probably benign |
0.00 |
R9073:Ccdc110
|
UTSW |
8 |
46,395,875 (GRCm39) |
missense |
probably benign |
0.00 |
R9088:Ccdc110
|
UTSW |
8 |
46,394,882 (GRCm39) |
missense |
probably damaging |
0.99 |
R9803:Ccdc110
|
UTSW |
8 |
46,395,626 (GRCm39) |
missense |
probably benign |
|
X0053:Ccdc110
|
UTSW |
8 |
46,395,998 (GRCm39) |
missense |
possibly damaging |
0.56 |
X0054:Ccdc110
|
UTSW |
8 |
46,394,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCAAGTTCATCCCAGAGC -3'
(R):5'- GATCTATCGTTTCCAGCATCTGTTG -3'
Sequencing Primer
(F):5'- AGTTCATCCCAGAGCAGTGC -3'
(R):5'- GCTTTTCCAGAGAGAGCTGAC -3'
|
Posted On |
2017-03-31 |