Incidental Mutation 'R7680:Ccdc110'
| ID |
592705 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc110
|
| Ensembl Gene |
ENSMUSG00000071104 |
| Gene Name |
coiled-coil domain containing 110 |
| Synonyms |
LOC212392 |
| MMRRC Submission |
045746-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R7680 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
46387656-46397182 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 46394688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 193
(M193K)
|
| 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: M193K
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000092964
Gene: ENSMUSG00000071104
AA Change: M193K
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510002D24Rik |
A |
G |
16: 18,657,958 (GRCm39) |
D104G |
possibly damaging |
Het |
| Ahi1 |
G |
T |
10: 20,883,667 (GRCm39) |
C844F |
possibly damaging |
Het |
| Bspry |
T |
C |
4: 62,414,828 (GRCm39) |
*474Q |
probably null |
Het |
| Car9 |
T |
A |
4: 43,507,250 (GRCm39) |
D65E |
probably damaging |
Het |
| Ccdc166 |
A |
G |
15: 75,853,056 (GRCm39) |
S304P |
possibly damaging |
Het |
| Cdcp1 |
T |
C |
9: 123,012,584 (GRCm39) |
Q321R |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,991,856 (GRCm39) |
V2255A |
probably damaging |
Het |
| Cmc2 |
A |
T |
8: 117,620,849 (GRCm39) |
M44K |
probably damaging |
Het |
| Crls1 |
A |
G |
2: 132,704,258 (GRCm39) |
T223A |
probably damaging |
Het |
| Ctnna3 |
A |
T |
10: 64,323,329 (GRCm39) |
H488L |
probably benign |
Het |
| Cyp2r1 |
A |
T |
7: 114,152,054 (GRCm39) |
I301N |
probably damaging |
Het |
| Dkk3 |
A |
T |
7: 111,718,570 (GRCm39) |
L272Q |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,513,365 (GRCm39) |
N1906S |
probably benign |
Het |
| Gm13271 |
T |
C |
4: 88,673,367 (GRCm39) |
V88A |
probably benign |
Het |
| Gphn |
C |
A |
12: 78,459,148 (GRCm39) |
L79I |
probably benign |
Het |
| Gpr15 |
A |
T |
16: 58,538,328 (GRCm39) |
W254R |
probably damaging |
Het |
| H2-M2 |
T |
C |
17: 37,793,916 (GRCm39) |
R103G |
possibly damaging |
Het |
| Hcn4 |
T |
C |
9: 58,767,954 (GRCm39) |
S1172P |
probably benign |
Het |
| Htr1a |
A |
G |
13: 105,581,539 (GRCm39) |
S260G |
probably benign |
Het |
| Iftap |
T |
C |
2: 101,440,901 (GRCm39) |
E34G |
probably damaging |
Het |
| Kif21b |
G |
T |
1: 136,075,607 (GRCm39) |
|
probably null |
Het |
| Lamp1 |
T |
C |
8: 13,217,812 (GRCm39) |
Y131H |
probably benign |
Het |
| Lrrc47 |
A |
C |
4: 154,100,558 (GRCm39) |
N378T |
probably benign |
Het |
| Manea |
A |
T |
4: 26,340,649 (GRCm39) |
H104Q |
probably damaging |
Het |
| Map4k3 |
A |
G |
17: 80,889,305 (GRCm39) |
I888T |
probably benign |
Het |
| Mark3 |
T |
C |
12: 111,613,207 (GRCm39) |
M557T |
probably benign |
Het |
| Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
| Myh6 |
C |
A |
14: 55,186,190 (GRCm39) |
C1413F |
possibly damaging |
Het |
| Myorg |
C |
A |
4: 41,497,978 (GRCm39) |
D551Y |
probably damaging |
Het |
| Ncr1 |
T |
A |
7: 4,341,123 (GRCm39) |
M38K |
possibly damaging |
Het |
| Nid2 |
A |
G |
14: 19,829,715 (GRCm39) |
T669A |
probably damaging |
Het |
| Or6e1 |
T |
A |
14: 54,519,837 (GRCm39) |
I172F |
probably damaging |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,763,511 (GRCm39) |
Y364H |
probably benign |
Het |
| Plxnb1 |
T |
A |
9: 108,929,571 (GRCm39) |
Y142* |
probably null |
Het |
| Ptprn |
T |
C |
1: 75,224,537 (GRCm39) |
I940V |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,370,382 (GRCm39) |
V4728A |
|
Het |
| Samd9l |
A |
T |
6: 3,372,569 (GRCm39) |
L1564Q |
probably damaging |
Het |
| Samd9l |
A |
G |
6: 3,376,469 (GRCm39) |
I264T |
probably damaging |
Het |
| Slc16a7 |
T |
C |
10: 125,066,805 (GRCm39) |
D278G |
probably benign |
Het |
| Slc35f2 |
T |
A |
9: 53,715,396 (GRCm39) |
V214E |
probably damaging |
Het |
| Slc7a5 |
A |
C |
8: 122,634,006 (GRCm39) |
S114A |
probably damaging |
Het |
| St6galnac3 |
A |
G |
3: 152,911,047 (GRCm39) |
S305P |
probably damaging |
Het |
| Stat1 |
G |
A |
1: 52,183,368 (GRCm39) |
R378Q |
probably damaging |
Het |
| Tnfrsf9 |
T |
G |
4: 151,014,395 (GRCm39) |
C31W |
probably damaging |
Het |
| Tnk1 |
T |
C |
11: 69,747,571 (GRCm39) |
E61G |
possibly damaging |
Het |
| Tnks1bp1 |
T |
A |
2: 84,889,585 (GRCm39) |
D637E |
probably benign |
Het |
| Ttc17 |
C |
T |
2: 94,196,889 (GRCm39) |
G486D |
probably benign |
Het |
| Vmn1r30 |
T |
A |
6: 58,412,284 (GRCm39) |
R183* |
probably null |
Het |
| Vmn2r78 |
A |
G |
7: 86,604,149 (GRCm39) |
T776A |
probably damaging |
Het |
| Wrap73 |
A |
G |
4: 154,241,079 (GRCm39) |
E444G |
probably benign |
Het |
| Zc3h13 |
C |
T |
14: 75,567,955 (GRCm39) |
R1083C |
probably damaging |
Het |
| Zfp189 |
A |
G |
4: 49,521,547 (GRCm39) |
|
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 |
|
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 |
|
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'- TGACCACCTGTTTATAGCATGC -3'
(R):5'- ATCGAGTGGCAGATGTCGTC -3'
Sequencing Primer
(F):5'- TATTGCCGCCAGCCTAACGAG -3'
(R):5'- GTCGTCTAAGTTTGCACAGAACC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation