Incidental Mutation 'R8114:Ccdc110'
| ID |
631068 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc110
|
| Ensembl Gene |
ENSMUSG00000071104 |
| Gene Name |
coiled-coil domain containing 110 |
| Synonyms |
LOC212392 |
| MMRRC Submission |
067543-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R8114 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
46387656-46397182 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 46396140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 677
(Q677L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095326]
[ENSMUST00000174815]
|
| AlphaFold |
Q3V125 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095326
AA Change: Q677L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092964
Gene: ENSMUSG00000071104
AA Change: Q677L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
442 |
794 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174815
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.5%
- 20x: 94.7%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
G |
T |
16: 14,407,091 (GRCm39) |
E7* |
probably null |
Het |
| Abca7 |
T |
C |
10: 79,844,874 (GRCm39) |
I1532T |
probably damaging |
Het |
| Adam12 |
T |
C |
7: 133,569,617 (GRCm39) |
D286G |
probably damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,741,163 (GRCm39) |
T970A |
probably benign |
Het |
| Apcdd1 |
A |
G |
18: 63,083,127 (GRCm39) |
N319S |
probably damaging |
Het |
| Arih1 |
A |
G |
9: 59,303,836 (GRCm39) |
M423T |
probably benign |
Het |
| Ccdc121rt3 |
C |
A |
5: 112,503,563 (GRCm39) |
R47L |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,614,537 (GRCm39) |
N1046S |
probably damaging |
Het |
| Ccdc63 |
G |
T |
5: 122,251,244 (GRCm39) |
Q389K |
possibly damaging |
Het |
| Cd274 |
T |
C |
19: 29,361,528 (GRCm39) |
S279P |
probably damaging |
Het |
| Cdcp2 |
A |
T |
4: 106,962,555 (GRCm39) |
I243F |
probably damaging |
Het |
| Cfap298 |
T |
C |
16: 90,731,545 (GRCm39) |
T22A |
probably benign |
Het |
| Cul2 |
A |
T |
18: 3,426,164 (GRCm39) |
K414* |
probably null |
Het |
| Daglb |
A |
G |
5: 143,464,218 (GRCm39) |
H243R |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,240,122 (GRCm39) |
Y493F |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Eea1 |
G |
T |
10: 95,830,851 (GRCm39) |
E171* |
probably null |
Het |
| Eml6 |
C |
T |
11: 29,704,910 (GRCm39) |
G1545R |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 78,073,365 (GRCm39) |
I2463V |
probably benign |
Het |
| Fgl1 |
A |
G |
8: 41,644,620 (GRCm39) |
Y295H |
probably damaging |
Het |
| Frrs1 |
A |
G |
3: 116,675,425 (GRCm39) |
T118A |
probably damaging |
Het |
| Gdi2 |
T |
C |
13: 3,598,906 (GRCm39) |
V30A |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,165,732 (GRCm39) |
|
probably null |
Het |
| Iqsec3 |
A |
G |
6: 121,390,458 (GRCm39) |
S338P |
unknown |
Het |
| Klhl3 |
C |
T |
13: 58,161,677 (GRCm39) |
V473M |
possibly damaging |
Het |
| Ldah |
A |
G |
12: 8,334,039 (GRCm39) |
E310G |
probably damaging |
Het |
| Mtnr1b |
A |
G |
9: 15,785,563 (GRCm39) |
V65A |
probably damaging |
Het |
| Myo7b |
G |
T |
18: 32,098,677 (GRCm39) |
T1735K |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,215,734 (GRCm39) |
V191D |
possibly damaging |
Het |
| Oas1e |
T |
C |
5: 120,924,708 (GRCm39) |
T377A |
unknown |
Het |
| Odr4 |
A |
T |
1: 150,264,308 (GRCm39) |
L67* |
probably null |
Het |
| Or10al6 |
T |
C |
17: 38,082,880 (GRCm39) |
F112S |
possibly damaging |
Het |
| Or10v9 |
G |
A |
19: 11,832,466 (GRCm39) |
P284S |
probably damaging |
Het |
| Or8k53 |
A |
T |
2: 86,177,530 (GRCm39) |
H193Q |
probably benign |
Het |
| Platr25 |
T |
C |
13: 62,821,738 (GRCm39) |
S70G |
possibly damaging |
Het |
| Plcl2 |
T |
C |
17: 50,994,815 (GRCm39) |
S1095P |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,862,577 (GRCm39) |
K637E |
possibly damaging |
Het |
| Rbm47 |
T |
C |
5: 66,184,196 (GRCm39) |
I136V |
probably benign |
Het |
| Serpinb3c |
A |
C |
1: 107,204,034 (GRCm39) |
N59K |
probably benign |
Het |
| Shcbp1 |
T |
A |
8: 4,817,930 (GRCm39) |
N122Y |
probably damaging |
Het |
| Sim2 |
T |
C |
16: 93,923,503 (GRCm39) |
V347A |
probably benign |
Het |
| Slc22a30 |
A |
T |
19: 8,381,904 (GRCm39) |
Y122* |
probably null |
Het |
| Slc34a2 |
G |
A |
5: 53,225,701 (GRCm39) |
S450N |
probably benign |
Het |
| Snx17 |
A |
T |
5: 31,355,046 (GRCm39) |
M354L |
probably benign |
Het |
| Stard9 |
G |
A |
2: 120,534,911 (GRCm39) |
G3723S |
probably benign |
Het |
| Surf6 |
G |
A |
2: 26,782,380 (GRCm39) |
Q316* |
probably null |
Het |
| Tiprl |
A |
G |
1: 165,055,991 (GRCm39) |
S44P |
probably benign |
Het |
| Tmem39a |
T |
G |
16: 38,411,359 (GRCm39) |
L438R |
probably damaging |
Het |
| Tmem39a |
C |
A |
16: 38,411,358 (GRCm39) |
L438M |
probably damaging |
Het |
| Tns2 |
G |
C |
15: 102,019,825 (GRCm39) |
V572L |
probably benign |
Het |
| Trdn |
T |
C |
10: 32,959,624 (GRCm39) |
|
probably benign |
Het |
| Trpc7 |
T |
C |
13: 56,952,411 (GRCm39) |
I587V |
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,692,394 (GRCm39) |
D952G |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,511,392 (GRCm39) |
N470K |
probably damaging |
Het |
| Vmn2r67 |
A |
T |
7: 84,805,097 (GRCm39) |
I5N |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Ythdc2 |
A |
G |
18: 45,010,807 (GRCm39) |
D1272G |
probably benign |
Het |
| Zfp959 |
A |
G |
17: 56,205,496 (GRCm39) |
Y511C |
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 |
|
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 |
|
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'- AGAGCAAGCTGGAGATCCTG -3'
(R):5'- ATCTTGTCTTCGGTGAGCC -3'
Sequencing Primer
(F):5'- CTGGAGATCCTGCAGCTGAAAG -3'
(R):5'- GAGCCGACTGATGCTATTTTCGAAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation