Incidental Mutation 'R6815:Ccdc110'
ID |
537282 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc110
|
Ensembl Gene |
ENSMUSG00000071104 |
Gene Name |
coiled-coil domain containing 110 |
Synonyms |
LOC212392 |
MMRRC Submission |
044927-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R6815 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
46387656-46397182 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 46395024 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 305
(N305S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092964
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095326]
[ENSMUST00000174815]
|
AlphaFold |
Q3V125 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095326
AA Change: N305S
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000092964 Gene: ENSMUSG00000071104 AA Change: N305S
Domain | Start | End | E-Value | Type |
coiled coil region
|
442 |
794 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174815
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
T |
G |
14: 54,828,610 (GRCm39) |
N297T |
probably damaging |
Het |
6820408C15Rik |
A |
G |
2: 152,282,975 (GRCm39) |
N251S |
probably benign |
Het |
Abcc5 |
T |
C |
16: 20,152,380 (GRCm39) |
T1389A |
probably damaging |
Het |
Acad11 |
A |
G |
9: 103,958,526 (GRCm39) |
T265A |
probably benign |
Het |
Ace3 |
C |
T |
11: 105,888,084 (GRCm39) |
Q302* |
probably null |
Het |
Aip |
A |
T |
19: 4,166,066 (GRCm39) |
H128Q |
probably benign |
Het |
Akr1b7 |
A |
T |
6: 34,389,269 (GRCm39) |
|
probably null |
Het |
Arid4a |
T |
A |
12: 71,063,856 (GRCm39) |
|
probably null |
Het |
Armh1 |
T |
A |
4: 117,087,134 (GRCm39) |
H177L |
probably damaging |
Het |
Aspm |
A |
G |
1: 139,407,880 (GRCm39) |
T2256A |
probably benign |
Het |
Bco1 |
A |
T |
8: 117,840,261 (GRCm39) |
M260L |
probably benign |
Het |
Ccdc158 |
T |
A |
5: 92,760,345 (GRCm39) |
Y1035F |
probably damaging |
Het |
Cd180 |
C |
T |
13: 102,841,937 (GRCm39) |
L328F |
probably damaging |
Het |
Cntrl |
T |
C |
2: 35,039,503 (GRCm39) |
L1121P |
probably damaging |
Het |
Cyp2u1 |
A |
C |
3: 131,091,659 (GRCm39) |
I287S |
probably damaging |
Het |
Dnah3 |
C |
T |
7: 119,570,950 (GRCm39) |
M2195I |
probably benign |
Het |
Dnajc21 |
C |
T |
15: 10,447,777 (GRCm39) |
|
probably null |
Het |
Dock10 |
C |
T |
1: 80,516,576 (GRCm39) |
V1398M |
possibly damaging |
Het |
Dpy19l3 |
T |
A |
7: 35,449,272 (GRCm39) |
I44F |
possibly damaging |
Het |
Dst |
C |
A |
1: 34,267,450 (GRCm39) |
T4964K |
possibly damaging |
Het |
Ercc4 |
T |
C |
16: 12,941,299 (GRCm39) |
I139T |
probably damaging |
Het |
Gpr4 |
T |
A |
7: 18,956,560 (GRCm39) |
F161I |
probably damaging |
Het |
Gucy2e |
A |
C |
11: 69,122,827 (GRCm39) |
L516R |
possibly damaging |
Het |
Hdhd5 |
A |
G |
6: 120,498,170 (GRCm39) |
V143A |
probably benign |
Het |
Heatr4 |
T |
A |
12: 84,026,501 (GRCm39) |
Q252L |
probably damaging |
Het |
Heatr5a |
T |
G |
12: 52,002,291 (GRCm39) |
D215A |
possibly damaging |
Het |
Hipk2 |
G |
T |
6: 38,795,777 (GRCm39) |
A164D |
probably damaging |
Het |
Igsf11 |
A |
G |
16: 38,829,243 (GRCm39) |
I46V |
probably benign |
Het |
Iqgap1 |
C |
T |
7: 80,416,632 (GRCm39) |
|
probably null |
Het |
Lrig1 |
A |
G |
6: 94,602,010 (GRCm39) |
L281P |
probably damaging |
Het |
Or10p22 |
A |
G |
10: 128,826,191 (GRCm39) |
S137G |
probably benign |
Het |
Or7g32 |
G |
T |
9: 19,389,061 (GRCm39) |
H159N |
probably benign |
Het |
Pcdha7 |
A |
G |
18: 37,108,174 (GRCm39) |
T400A |
probably damaging |
Het |
Pde5a |
A |
G |
3: 122,618,573 (GRCm39) |
T629A |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,426,051 (GRCm39) |
D3204G |
probably damaging |
Het |
Prkd2 |
T |
C |
7: 16,577,718 (GRCm39) |
F57S |
probably benign |
Het |
Prr15l |
T |
C |
11: 96,825,433 (GRCm39) |
V21A |
probably damaging |
Het |
Rag2 |
T |
A |
2: 101,460,900 (GRCm39) |
N403K |
probably damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Rtl1 |
C |
A |
12: 109,560,937 (GRCm39) |
D301Y |
probably damaging |
Het |
Septin14 |
T |
C |
5: 129,770,051 (GRCm39) |
N215S |
probably benign |
Het |
Sin3a |
T |
A |
9: 57,024,824 (GRCm39) |
D1061E |
probably benign |
Het |
Skint5 |
T |
A |
4: 113,574,324 (GRCm39) |
|
probably null |
Het |
Stox2 |
A |
T |
8: 47,646,136 (GRCm39) |
D441E |
probably damaging |
Het |
Tmem52b |
G |
A |
6: 129,493,705 (GRCm39) |
|
probably null |
Het |
Tpm3-rs7 |
A |
G |
14: 113,552,292 (GRCm39) |
E62G |
probably benign |
Het |
Trim54 |
G |
T |
5: 31,291,424 (GRCm39) |
V182L |
probably damaging |
Het |
Trmt6 |
A |
C |
2: 132,651,778 (GRCm39) |
V214G |
probably damaging |
Het |
Ttc21b |
T |
C |
2: 66,057,134 (GRCm39) |
S613G |
probably benign |
Het |
Ttll4 |
C |
A |
1: 74,718,508 (GRCm39) |
R120S |
possibly damaging |
Het |
Wdr41 |
A |
T |
13: 95,154,682 (GRCm39) |
K354N |
probably damaging |
Het |
Zfp652 |
A |
T |
11: 95,640,230 (GRCm39) |
K52* |
probably null |
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 |
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 |
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'- TTAGACGACATCTGCCACTCG -3'
(R):5'- TCGGGAGTGGAACTTTAAATCC -3'
Sequencing Primer
(F):5'- TCTGCCACTCGATCAAGC -3'
(R):5'- AATCCATAATGTTCTTGCTGGTG -3'
|
Posted On |
2018-10-18 |