Incidental Mutation 'R0714:Ccdc110'
ID |
85909 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc110
|
Ensembl Gene |
ENSMUSG00000071104 |
Gene Name |
coiled-coil domain containing 110 |
Synonyms |
LOC212392 |
MMRRC Submission |
038897-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R0714 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
46387656-46397182 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 46396047 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 646
(D646V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092964
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095326]
[ENSMUST00000174815]
|
AlphaFold |
Q3V125 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095326
AA Change: D646V
PolyPhen 2
Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000092964 Gene: ENSMUSG00000071104 AA Change: D646V
Domain | Start | End | E-Value | Type |
coiled coil region
|
442 |
794 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174815
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd17b |
G |
A |
19: 21,655,973 (GRCm39) |
R85H |
probably damaging |
Het |
Adamts13 |
A |
G |
2: 26,876,997 (GRCm39) |
|
probably benign |
Het |
Alb |
T |
C |
5: 90,610,665 (GRCm39) |
S82P |
possibly damaging |
Het |
Arhgap10 |
G |
A |
8: 78,078,316 (GRCm39) |
|
probably benign |
Het |
Aspscr1 |
T |
A |
11: 120,594,493 (GRCm39) |
|
probably null |
Het |
Capn3 |
A |
T |
2: 120,322,361 (GRCm39) |
Q359L |
probably benign |
Het |
Ccr2 |
G |
A |
9: 123,905,966 (GRCm39) |
G82D |
probably benign |
Het |
Col6a4 |
A |
G |
9: 105,895,102 (GRCm39) |
|
probably benign |
Het |
Dhx29 |
T |
C |
13: 113,064,499 (GRCm39) |
V58A |
possibly damaging |
Het |
Dhx35 |
C |
A |
2: 158,686,103 (GRCm39) |
Q593K |
probably benign |
Het |
Dmd |
T |
C |
X: 83,353,503 (GRCm39) |
L2240P |
probably benign |
Het |
Emc7 |
A |
G |
2: 112,293,277 (GRCm39) |
N162S |
possibly damaging |
Het |
Exoc7 |
A |
T |
11: 116,184,120 (GRCm39) |
N483K |
probably benign |
Het |
Fbxo34 |
T |
C |
14: 47,767,486 (GRCm39) |
V282A |
probably damaging |
Het |
Fndc3c1 |
A |
T |
X: 105,468,972 (GRCm39) |
Y1087* |
probably null |
Het |
Kat2a |
A |
G |
11: 100,602,178 (GRCm39) |
V192A |
probably damaging |
Het |
Larp7 |
T |
C |
3: 127,340,833 (GRCm39) |
D64G |
probably damaging |
Het |
Lnx1 |
A |
G |
5: 74,768,570 (GRCm39) |
|
probably benign |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Nckipsd |
C |
A |
9: 108,691,333 (GRCm39) |
|
probably benign |
Het |
Ndufab1 |
A |
G |
7: 121,695,960 (GRCm39) |
|
probably benign |
Het |
Nedd4 |
G |
A |
9: 72,638,728 (GRCm39) |
|
probably benign |
Het |
Nrsn2 |
G |
A |
2: 152,216,042 (GRCm39) |
R54* |
probably null |
Het |
Nt5dc3 |
T |
A |
10: 86,648,238 (GRCm39) |
V171E |
probably damaging |
Het |
Nudt8 |
A |
G |
19: 4,052,023 (GRCm39) |
*211W |
probably null |
Het |
Nxph4 |
A |
G |
10: 127,362,808 (GRCm39) |
S28P |
probably damaging |
Het |
Or4f14b |
A |
G |
2: 111,774,898 (GRCm39) |
V301A |
probably benign |
Het |
Or8k17 |
A |
C |
2: 86,066,498 (GRCm39) |
L227R |
probably damaging |
Het |
Or9g4b |
A |
G |
2: 85,616,743 (GRCm39) |
D296G |
probably damaging |
Het |
Pcdhb15 |
A |
G |
18: 37,607,674 (GRCm39) |
Y302C |
probably damaging |
Het |
Pkdrej |
A |
G |
15: 85,699,712 (GRCm39) |
S2075P |
possibly damaging |
Het |
Sdhc |
A |
T |
1: 170,957,488 (GRCm39) |
|
probably benign |
Het |
Sidt2 |
A |
G |
9: 45,858,358 (GRCm39) |
|
probably benign |
Het |
Sik2 |
T |
C |
9: 50,818,736 (GRCm39) |
M413V |
probably benign |
Het |
Slc5a4b |
A |
G |
10: 75,917,341 (GRCm39) |
F232L |
probably benign |
Het |
Slx1b |
A |
T |
7: 126,291,620 (GRCm39) |
I148N |
probably damaging |
Het |
Spag17 |
C |
G |
3: 99,987,472 (GRCm39) |
S1587R |
probably damaging |
Het |
St13 |
T |
C |
15: 81,267,228 (GRCm39) |
D74G |
probably benign |
Het |
St7l |
G |
A |
3: 104,782,244 (GRCm39) |
R207H |
probably benign |
Het |
Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
Tacc3 |
T |
C |
5: 33,828,741 (GRCm39) |
|
probably benign |
Het |
Tbx22 |
G |
A |
X: 106,728,731 (GRCm39) |
V421I |
probably benign |
Het |
Tmc3 |
G |
A |
7: 83,265,969 (GRCm39) |
A705T |
possibly damaging |
Het |
Tmem130 |
C |
T |
5: 144,674,619 (GRCm39) |
V369M |
probably damaging |
Het |
Tonsl |
T |
C |
15: 76,517,921 (GRCm39) |
|
probably benign |
Het |
Trpm6 |
T |
A |
19: 18,815,451 (GRCm39) |
I1179N |
possibly damaging |
Het |
Ttc13 |
A |
T |
8: 125,401,105 (GRCm39) |
S624T |
probably damaging |
Het |
Utp23 |
T |
G |
15: 51,745,665 (GRCm39) |
V55G |
possibly damaging |
Het |
Vps11 |
A |
G |
9: 44,270,953 (GRCm39) |
V143A |
possibly damaging |
Het |
Vps50 |
G |
T |
6: 3,571,105 (GRCm39) |
V618F |
probably benign |
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 |
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 |
R5966:Ccdc110
|
UTSW |
8 |
46,395,573 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- ATCGTCAGCACTTACAACGTCCTC -3'
(R):5'- AGATGCTTGTCTCCGACTTTGCAC -3'
Sequencing Primer
(F):5'- TAGTCAGCTCTCTCTGGAAAAGC -3'
(R):5'- GCACTCTTGATTTCTTTCAGGAAC -3'
|
Posted On |
2013-11-18 |