Incidental Mutation 'R1842:Ccdc110'
ID |
205822 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc110
|
Ensembl Gene |
ENSMUSG00000071104 |
Gene Name |
coiled-coil domain containing 110 |
Synonyms |
LOC212392 |
MMRRC Submission |
039867-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R1842 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
46387656-46397182 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 46393605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 106
(I106F)
|
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: I106F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092964 Gene: ENSMUSG00000071104 AA Change: I106F
Domain | Start | End | E-Value | Type |
coiled coil region
|
442 |
794 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174815
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.8%
- 20x: 90.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
G |
T |
11: 110,087,865 (GRCm39) |
N1087K |
probably benign |
Het |
Abcc3 |
G |
A |
11: 94,250,438 (GRCm39) |
T921I |
probably benign |
Het |
Abr |
T |
A |
11: 76,399,812 (GRCm39) |
I4F |
probably damaging |
Het |
Adcy10 |
T |
A |
1: 165,330,812 (GRCm39) |
V25D |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,983,231 (GRCm39) |
M1505K |
probably damaging |
Het |
Alms1-ps2 |
T |
C |
6: 85,773,231 (GRCm39) |
|
noncoding transcript |
Het |
Apob |
C |
G |
12: 8,061,559 (GRCm39) |
T3347S |
probably damaging |
Het |
Arhgap27 |
C |
A |
11: 103,230,822 (GRCm39) |
G11W |
probably damaging |
Het |
Ccdc28b |
T |
A |
4: 129,514,806 (GRCm39) |
D101V |
probably damaging |
Het |
Ccdc30 |
T |
C |
4: 119,188,324 (GRCm39) |
E566G |
probably benign |
Het |
Cenpm |
T |
C |
15: 82,123,565 (GRCm39) |
S111G |
probably benign |
Het |
Cep55 |
A |
G |
19: 38,046,348 (GRCm39) |
I34V |
probably benign |
Het |
Dcdc2a |
T |
C |
13: 25,291,585 (GRCm39) |
L190S |
probably damaging |
Het |
Dhh |
T |
C |
15: 98,792,441 (GRCm39) |
|
probably null |
Het |
Dst |
A |
G |
1: 34,203,200 (GRCm39) |
N703S |
probably null |
Het |
E030025P04Rik |
G |
A |
11: 109,030,396 (GRCm39) |
L164F |
unknown |
Het |
Efcab5 |
A |
G |
11: 77,025,701 (GRCm39) |
V538A |
probably benign |
Het |
Egflam |
A |
G |
15: 7,333,422 (GRCm39) |
S177P |
probably benign |
Het |
Ehbp1l1 |
A |
T |
19: 5,775,958 (GRCm39) |
C31S |
probably damaging |
Het |
Eif2d |
C |
A |
1: 131,098,797 (GRCm39) |
Q532K |
probably damaging |
Het |
Elf3 |
T |
C |
1: 135,184,531 (GRCm39) |
D175G |
possibly damaging |
Het |
F5 |
T |
C |
1: 164,012,129 (GRCm39) |
V449A |
probably damaging |
Het |
Fam110a |
A |
T |
2: 151,811,954 (GRCm39) |
I272N |
probably damaging |
Het |
Fbxo34 |
A |
G |
14: 47,768,464 (GRCm39) |
D608G |
probably damaging |
Het |
Flrt2 |
T |
C |
12: 95,746,058 (GRCm39) |
L132P |
probably damaging |
Het |
Frg2f1 |
A |
T |
4: 119,388,277 (GRCm39) |
V74D |
possibly damaging |
Het |
Gad1 |
G |
T |
2: 70,404,597 (GRCm39) |
E162D |
probably benign |
Het |
Glb1l |
A |
G |
1: 75,177,104 (GRCm39) |
V444A |
probably damaging |
Het |
Gm10770 |
G |
A |
2: 150,021,076 (GRCm39) |
T147I |
probably damaging |
Het |
Gm43302 |
T |
C |
5: 105,425,602 (GRCm39) |
I276V |
probably benign |
Het |
Greb1 |
T |
C |
12: 16,746,244 (GRCm39) |
H1314R |
probably damaging |
Het |
Hapln2 |
A |
G |
3: 87,931,308 (GRCm39) |
V69A |
probably damaging |
Het |
Hcn1 |
T |
C |
13: 118,112,544 (GRCm39) |
I836T |
probably damaging |
Het |
Hspa5 |
A |
G |
2: 34,665,815 (GRCm39) |
D553G |
probably damaging |
Het |
Iqgap1 |
A |
T |
7: 80,410,631 (GRCm39) |
I194N |
probably damaging |
Het |
Kansl3 |
A |
G |
1: 36,390,825 (GRCm39) |
V304A |
probably damaging |
Het |
Kdm5d |
C |
T |
Y: 927,798 (GRCm39) |
S716L |
probably damaging |
Het |
Klra6 |
T |
C |
6: 129,999,573 (GRCm39) |
T132A |
probably benign |
Het |
Krt26 |
CTAGTA |
CTA |
11: 99,224,352 (GRCm39) |
|
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,409,337 (GRCm39) |
I1594T |
possibly damaging |
Het |
Lrp2bp |
A |
G |
8: 46,464,152 (GRCm39) |
D15G |
probably benign |
Het |
Map4k1 |
T |
C |
7: 28,686,588 (GRCm39) |
L170P |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,233,037 (GRCm39) |
F1108L |
possibly damaging |
Het |
Mettl5 |
G |
T |
2: 69,715,686 (GRCm39) |
L6I |
unknown |
Het |
Mfsd14a |
A |
T |
3: 116,426,057 (GRCm39) |
F447I |
possibly damaging |
Het |
Mrc2 |
A |
G |
11: 105,228,546 (GRCm39) |
I642V |
probably damaging |
Het |
Necap1 |
A |
G |
6: 122,851,547 (GRCm39) |
Y7C |
probably damaging |
Het |
Nsd1 |
G |
A |
13: 55,394,258 (GRCm39) |
E723K |
probably damaging |
Het |
Nsun3 |
A |
T |
16: 62,596,755 (GRCm39) |
L121H |
probably damaging |
Het |
Nsun6 |
A |
T |
2: 15,014,288 (GRCm39) |
M284K |
probably damaging |
Het |
Nutf2 |
T |
C |
8: 106,603,242 (GRCm39) |
|
probably null |
Het |
Odad2 |
A |
T |
18: 7,223,551 (GRCm39) |
D497E |
probably benign |
Het |
Or1j20 |
A |
T |
2: 36,759,601 (GRCm39) |
N8Y |
probably damaging |
Het |
Or5d38 |
A |
T |
2: 87,954,471 (GRCm39) |
M286K |
probably damaging |
Het |
Pacs1 |
T |
C |
19: 5,205,912 (GRCm39) |
E288G |
probably damaging |
Het |
Peg10 |
A |
T |
6: 4,756,381 (GRCm39) |
|
probably benign |
Het |
Rab38 |
G |
A |
7: 88,099,730 (GRCm39) |
E82K |
possibly damaging |
Het |
Rgsl1 |
T |
A |
1: 153,675,543 (GRCm39) |
E206V |
probably damaging |
Het |
Saxo5 |
T |
A |
8: 3,533,668 (GRCm39) |
F295L |
possibly damaging |
Het |
Scube3 |
G |
A |
17: 28,384,063 (GRCm39) |
V521I |
probably damaging |
Het |
Sgpp1 |
C |
T |
12: 75,762,982 (GRCm39) |
V400M |
probably damaging |
Het |
Slc18b1 |
T |
C |
10: 23,681,891 (GRCm39) |
S152P |
possibly damaging |
Het |
Slit1 |
A |
T |
19: 41,709,477 (GRCm39) |
|
probably null |
Het |
Spata31d1e |
T |
C |
13: 59,890,320 (GRCm39) |
Y82C |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,023,513 (GRCm39) |
K640R |
probably benign |
Het |
Svil |
A |
G |
18: 5,062,373 (GRCm39) |
T898A |
probably damaging |
Het |
Timm44 |
A |
G |
8: 4,310,510 (GRCm39) |
|
probably null |
Het |
Tomm40 |
A |
G |
7: 19,447,650 (GRCm39) |
S127P |
probably benign |
Het |
Vmn2r23 |
T |
A |
6: 123,706,649 (GRCm39) |
V493D |
possibly damaging |
Het |
Yeats2 |
T |
C |
16: 19,989,988 (GRCm39) |
V288A |
probably damaging |
Het |
Zfhx4 |
C |
T |
3: 5,466,558 (GRCm39) |
R2239W |
probably damaging |
Het |
Zscan2 |
A |
C |
7: 80,525,301 (GRCm39) |
K341Q |
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 |
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 |
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'- GCTCCGTTCCGATGATAGATG -3'
(R):5'- TGCCTCTCTTAAAGGGATGGTC -3'
Sequencing Primer
(F):5'- CTCCGTTCCGATGATAGATGTCAAAG -3'
(R):5'- CCTTTTTGGGATAGACAGATAGATG -3'
|
Posted On |
2014-06-23 |