Incidental Mutation 'R2043:Ccdc110'
ID |
225201 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc110
|
Ensembl Gene |
ENSMUSG00000071104 |
Gene Name |
coiled-coil domain containing 110 |
Synonyms |
LOC212392 |
MMRRC Submission |
040050-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R2043 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
46387656-46397182 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46395864 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 585
(M585T)
|
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: M585T
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000092964 Gene: ENSMUSG00000071104 AA Change: M585T
Domain | Start | End | E-Value | Type |
coiled coil region
|
442 |
794 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174815
|
Meta Mutation Damage Score |
0.0620 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
96% (47/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam9 |
A |
G |
8: 25,486,669 (GRCm39) |
|
probably null |
Het |
Adnp2 |
A |
C |
18: 80,171,541 (GRCm39) |
M956R |
probably damaging |
Het |
Aldh1l1 |
T |
A |
6: 90,534,314 (GRCm39) |
D36E |
probably benign |
Het |
Ankmy1 |
T |
C |
1: 92,804,249 (GRCm39) |
|
probably benign |
Het |
Apaf1 |
T |
C |
10: 90,872,890 (GRCm39) |
D718G |
probably damaging |
Het |
Ascc3 |
C |
T |
10: 50,576,616 (GRCm39) |
P857L |
probably damaging |
Het |
Atp8b1 |
T |
C |
18: 64,738,271 (GRCm39) |
K60R |
possibly damaging |
Het |
Bub1 |
A |
T |
2: 127,646,140 (GRCm39) |
C947S |
probably damaging |
Het |
Cacna1c |
C |
T |
6: 118,573,049 (GRCm39) |
G2017D |
probably benign |
Het |
Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
Cep85l |
A |
T |
10: 53,234,224 (GRCm39) |
N51K |
possibly damaging |
Het |
Cftr |
T |
C |
6: 18,320,934 (GRCm39) |
F1415L |
probably benign |
Het |
Cln5 |
T |
C |
14: 103,313,380 (GRCm39) |
S211P |
probably damaging |
Het |
Dcaf5 |
A |
T |
12: 80,386,991 (GRCm39) |
D378E |
probably benign |
Het |
Dhx57 |
A |
G |
17: 80,560,509 (GRCm39) |
|
probably benign |
Het |
Dsn1 |
G |
A |
2: 156,847,273 (GRCm39) |
S55L |
possibly damaging |
Het |
Eif5b |
T |
C |
1: 38,080,900 (GRCm39) |
F747S |
probably damaging |
Het |
Entrep3 |
A |
G |
3: 89,092,874 (GRCm39) |
Y251C |
probably damaging |
Het |
Fbxo25 |
A |
G |
8: 13,971,905 (GRCm39) |
I86V |
probably damaging |
Het |
Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
Glcci1 |
T |
A |
6: 8,582,590 (GRCm39) |
I130K |
probably damaging |
Het |
Gm5424 |
A |
G |
10: 61,906,990 (GRCm39) |
|
noncoding transcript |
Het |
Gsdma |
G |
A |
11: 98,557,046 (GRCm39) |
V54M |
possibly damaging |
Het |
H3c3 |
A |
G |
13: 23,929,278 (GRCm39) |
F68S |
probably damaging |
Het |
Heatr3 |
T |
A |
8: 88,874,322 (GRCm39) |
|
probably benign |
Het |
Hspa13 |
A |
G |
16: 75,555,156 (GRCm39) |
L310S |
probably benign |
Het |
Il6st |
A |
C |
13: 112,616,753 (GRCm39) |
Q100P |
probably benign |
Het |
Ly6g6e |
G |
A |
17: 35,296,840 (GRCm39) |
R27Q |
possibly damaging |
Het |
Mis18bp1 |
A |
T |
12: 65,196,192 (GRCm39) |
I524K |
probably damaging |
Het |
Myo18a |
T |
C |
11: 77,714,189 (GRCm39) |
I761T |
probably damaging |
Het |
Mypop |
T |
C |
7: 18,734,944 (GRCm39) |
|
probably benign |
Het |
Or51ag1 |
A |
G |
7: 103,156,150 (GRCm39) |
M1T |
probably null |
Het |
Pcdh20 |
G |
A |
14: 88,704,591 (GRCm39) |
T903I |
probably benign |
Het |
Pdk4 |
A |
T |
6: 5,485,502 (GRCm39) |
C396S |
probably benign |
Het |
Piwil2 |
A |
G |
14: 70,628,919 (GRCm39) |
V699A |
probably benign |
Het |
Plekha5 |
T |
C |
6: 140,498,530 (GRCm39) |
|
probably benign |
Het |
Ralgapa1 |
T |
A |
12: 55,723,811 (GRCm39) |
I1572L |
probably damaging |
Het |
Rasgrf2 |
T |
A |
13: 92,167,351 (GRCm39) |
M241L |
possibly damaging |
Het |
Ryr1 |
C |
T |
7: 28,759,056 (GRCm39) |
R3374H |
probably damaging |
Het |
Slc24a2 |
A |
T |
4: 86,914,882 (GRCm39) |
M519K |
probably damaging |
Het |
Smg9 |
T |
A |
7: 24,105,001 (GRCm39) |
I67N |
possibly damaging |
Het |
Spart |
G |
A |
3: 55,034,969 (GRCm39) |
A452T |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,648,453 (GRCm39) |
F4686Y |
probably benign |
Het |
Zfp146 |
T |
C |
7: 29,861,664 (GRCm39) |
K126R |
possibly damaging |
Het |
Zfp386 |
T |
A |
12: 116,022,781 (GRCm39) |
D131E |
probably benign |
Het |
Zfp423 |
T |
C |
8: 88,509,246 (GRCm39) |
D366G |
probably damaging |
Het |
Zfp729a |
T |
C |
13: 67,769,291 (GRCm39) |
K313E |
probably damaging |
Het |
Zfp955a |
G |
A |
17: 33,461,527 (GRCm39) |
H202Y |
possibly 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 |
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'- TCGTCAGCACTTACAACGTC -3'
(R):5'- AGACTCAGCTTCTCCGCTTTAG -3'
Sequencing Primer
(F):5'- ACTTACAACGTCCTCGGAGG -3'
(R):5'- TCTAGACTGTGAAGAAGCGACTCC -3'
|
Posted On |
2014-08-25 |