Incidental Mutation 'R0332:Ccdc110'
| ID |
35925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc110
|
| Ensembl Gene |
ENSMUSG00000071104 |
| Gene Name |
coiled-coil domain containing 110 |
| Synonyms |
LOC212392 |
| MMRRC Submission |
038541-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R0332 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
46387656-46397182 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 46396001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 631
(E631*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095326]
[ENSMUST00000174815]
|
| AlphaFold |
Q3V125 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000095326
AA Change: E631*
|
| SMART Domains |
Protein: ENSMUSP00000092964
Gene: ENSMUSG00000071104
AA Change: E631*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
442 |
794 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174815
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aggf1 |
T |
C |
13: 95,505,954 (GRCm39) |
E211G |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,181,910 (GRCm39) |
N299S |
probably benign |
Het |
| Arhgef7 |
T |
A |
8: 11,874,701 (GRCm39) |
Y777* |
probably null |
Het |
| Atad1 |
A |
G |
19: 32,679,934 (GRCm39) |
|
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,112,268 (GRCm39) |
|
probably null |
Het |
| Bop1 |
A |
G |
15: 76,340,187 (GRCm39) |
Y130H |
probably damaging |
Het |
| Ccar2 |
G |
T |
14: 70,379,384 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
C |
T |
10: 92,871,319 (GRCm39) |
D634N |
probably damaging |
Het |
| Cldn8 |
C |
T |
16: 88,359,246 (GRCm39) |
|
silent |
Het |
| Cstf3 |
G |
T |
2: 104,476,812 (GRCm39) |
|
probably null |
Het |
| Dgkq |
T |
C |
5: 108,802,965 (GRCm39) |
|
probably benign |
Het |
| Dsp |
T |
A |
13: 38,366,204 (GRCm39) |
L546* |
probably null |
Het |
| Eif3g |
A |
T |
9: 20,809,280 (GRCm39) |
|
probably benign |
Het |
| Fam228a |
T |
A |
12: 4,785,018 (GRCm39) |
I38F |
probably damaging |
Het |
| Fto |
A |
T |
8: 92,128,518 (GRCm39) |
|
probably benign |
Het |
| Gcnt4 |
G |
T |
13: 97,083,018 (GRCm39) |
V105L |
probably benign |
Het |
| Gm10644 |
A |
G |
8: 84,660,210 (GRCm39) |
L45S |
possibly damaging |
Het |
| Gm7275 |
A |
T |
16: 47,894,132 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7579 |
T |
C |
7: 141,766,112 (GRCm39) |
S173P |
unknown |
Het |
| Gpatch8 |
T |
C |
11: 102,372,668 (GRCm39) |
N290S |
unknown |
Het |
| Grep1 |
A |
T |
17: 23,933,578 (GRCm39) |
|
probably benign |
Het |
| Hspb8 |
T |
A |
5: 116,547,532 (GRCm39) |
D150V |
probably damaging |
Het |
| Ifitm1 |
T |
C |
7: 140,548,366 (GRCm39) |
|
probably benign |
Het |
| Ifnl2 |
T |
C |
7: 28,208,756 (GRCm39) |
T99A |
possibly damaging |
Het |
| Ints4 |
T |
C |
7: 97,166,925 (GRCm39) |
L577P |
probably damaging |
Het |
| Jph4 |
T |
C |
14: 55,351,467 (GRCm39) |
E183G |
possibly damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,471,526 (GRCm39) |
|
probably null |
Het |
| Mug1 |
G |
A |
6: 121,826,856 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
C |
A |
7: 5,320,629 (GRCm39) |
C836F |
probably damaging |
Het |
| Nup210l |
G |
T |
3: 90,039,616 (GRCm39) |
|
probably benign |
Het |
| Optn |
C |
T |
2: 5,028,926 (GRCm39) |
G526R |
probably damaging |
Het |
| Or51h1 |
A |
T |
7: 102,308,672 (GRCm39) |
I215F |
probably damaging |
Het |
| Or7e178 |
A |
G |
9: 20,225,352 (GRCm39) |
L288S |
probably benign |
Het |
| Phykpl |
A |
G |
11: 51,477,502 (GRCm39) |
E98G |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,303,558 (GRCm39) |
N1648D |
probably benign |
Het |
| Plppr5 |
A |
T |
3: 117,465,581 (GRCm39) |
R277S |
probably benign |
Het |
| Ppp1r36 |
T |
A |
12: 76,474,677 (GRCm39) |
F86L |
probably benign |
Het |
| Ptgis |
A |
T |
2: 167,056,753 (GRCm39) |
L278Q |
probably damaging |
Het |
| Rasa2 |
A |
T |
9: 96,488,229 (GRCm39) |
F90Y |
probably damaging |
Het |
| Setd3 |
T |
C |
12: 108,073,838 (GRCm39) |
K480E |
probably benign |
Het |
| Slc66a1 |
C |
T |
4: 139,027,610 (GRCm39) |
S244N |
possibly damaging |
Het |
| Snx2 |
T |
C |
18: 53,345,983 (GRCm39) |
F389L |
probably benign |
Het |
| Sulf2 |
G |
A |
2: 165,931,119 (GRCm39) |
T296M |
probably benign |
Het |
| Supt16 |
A |
T |
14: 52,418,614 (GRCm39) |
H214Q |
probably damaging |
Het |
| Tbx4 |
A |
T |
11: 85,789,356 (GRCm39) |
M12L |
probably benign |
Het |
| Tlk1 |
A |
T |
2: 70,575,909 (GRCm39) |
|
probably null |
Het |
| Tmprss7 |
C |
T |
16: 45,501,001 (GRCm39) |
V267M |
probably benign |
Het |
| Tmub2 |
G |
A |
11: 102,179,174 (GRCm39) |
R291H |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,783,822 (GRCm39) |
V217E |
probably damaging |
Het |
| Try10 |
T |
A |
6: 41,331,154 (GRCm39) |
V10E |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,596,226 (GRCm39) |
V20229A |
probably benign |
Het |
| Ttn |
A |
C |
2: 76,608,538 (GRCm39) |
|
probably null |
Het |
| Usf2 |
T |
A |
7: 30,654,604 (GRCm39) |
M199L |
possibly damaging |
Het |
| Usp37 |
A |
T |
1: 74,534,869 (GRCm39) |
S26T |
possibly damaging |
Het |
| Vrk1 |
G |
C |
12: 106,024,884 (GRCm39) |
Q253H |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,064,534 (GRCm39) |
|
probably null |
Het |
| Xrra1 |
T |
C |
7: 99,525,449 (GRCm39) |
F123L |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,673,255 (GRCm39) |
I1435T |
probably damaging |
Het |
| Zfp712 |
T |
A |
13: 67,188,877 (GRCm39) |
H550L |
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 |
|
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 |
|
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 |
2013-05-09 |
Incidental Mutation