Incidental Mutation 'R0534:Ccdc110'
ID |
49369 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc110
|
Ensembl Gene |
ENSMUSG00000071104 |
Gene Name |
coiled-coil domain containing 110 |
Synonyms |
LOC212392 |
MMRRC Submission |
038726-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R0534 (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 46388175 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 44
(V44A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134510
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095326]
[ENSMUST00000174815]
|
AlphaFold |
Q3V125 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095326
AA Change: V44A
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000092964 Gene: ENSMUSG00000071104 AA Change: V44A
Domain | Start | End | E-Value | Type |
coiled coil region
|
442 |
794 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174815
AA Change: V44A
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
Meta Mutation Damage Score |
0.0891 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
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 |
Cand2 |
A |
G |
6: 115,764,197 (GRCm39) |
M324V |
probably damaging |
Het |
Cap1 |
C |
T |
4: 122,756,512 (GRCm39) |
V340M |
probably benign |
Het |
Cps1 |
A |
G |
1: 67,183,059 (GRCm39) |
D139G |
probably benign |
Het |
Cwc27 |
T |
A |
13: 104,768,124 (GRCm39) |
E457V |
unknown |
Het |
Cxxc1 |
C |
T |
18: 74,351,962 (GRCm39) |
P280S |
probably benign |
Het |
Dennd2b |
A |
T |
7: 109,140,635 (GRCm39) |
V197D |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,559,393 (GRCm39) |
L595Q |
probably benign |
Het |
Dscam |
G |
T |
16: 96,453,372 (GRCm39) |
S1292R |
possibly damaging |
Het |
E2f4 |
C |
A |
8: 106,030,851 (GRCm39) |
F353L |
probably damaging |
Het |
Ep300 |
A |
G |
15: 81,485,097 (GRCm39) |
|
probably benign |
Het |
Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
Fign |
T |
A |
2: 63,811,135 (GRCm39) |
H45L |
probably damaging |
Het |
Flcn |
T |
A |
11: 59,685,025 (GRCm39) |
|
probably benign |
Het |
Gm5141 |
A |
T |
13: 62,922,408 (GRCm39) |
F254I |
probably damaging |
Het |
Gpbp1l1 |
T |
A |
4: 116,448,465 (GRCm39) |
N402K |
probably damaging |
Het |
Gpr37 |
A |
T |
6: 25,669,823 (GRCm39) |
C340* |
probably null |
Het |
Gtf3c2 |
A |
T |
5: 31,315,476 (GRCm39) |
|
probably benign |
Het |
Hcfc2 |
T |
A |
10: 82,574,242 (GRCm39) |
F139I |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,486,539 (GRCm39) |
L3178P |
possibly damaging |
Het |
Hrc |
AGAGGAGGAGGAAGAGGAGGAGGA |
AGAGGAGGAGGAGGAAGAGGAGGAGGA |
7: 44,986,659 (GRCm39) |
|
probably benign |
Het |
Igf2bp1 |
A |
G |
11: 95,857,622 (GRCm39) |
|
probably benign |
Het |
Igsf9b |
T |
G |
9: 27,244,358 (GRCm39) |
|
probably null |
Het |
Il23r |
G |
A |
6: 67,403,572 (GRCm39) |
A443V |
probably benign |
Het |
Kcnv1 |
A |
G |
15: 44,972,645 (GRCm39) |
F413L |
probably damaging |
Het |
Lipe |
C |
A |
7: 25,087,611 (GRCm39) |
A150S |
possibly damaging |
Het |
Lrrcc1 |
T |
C |
3: 14,622,333 (GRCm39) |
S557P |
probably damaging |
Het |
Mrpl54 |
C |
A |
10: 81,102,687 (GRCm39) |
W13L |
probably damaging |
Het |
Mtcl3 |
T |
A |
10: 29,056,952 (GRCm39) |
|
probably benign |
Het |
Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
Npy1r |
C |
A |
8: 67,157,670 (GRCm39) |
Q327K |
probably damaging |
Het |
Nt5el |
C |
A |
13: 105,218,762 (GRCm39) |
S32* |
probably null |
Het |
Or51b17 |
C |
T |
7: 103,542,438 (GRCm39) |
R168H |
probably benign |
Het |
Osbpl10 |
C |
T |
9: 114,996,246 (GRCm39) |
L139F |
probably damaging |
Het |
P2rx6 |
A |
C |
16: 17,385,768 (GRCm39) |
T199P |
probably damaging |
Het |
Phyhip |
A |
T |
14: 70,699,199 (GRCm39) |
M1L |
possibly damaging |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Psmc1 |
T |
A |
12: 100,086,389 (GRCm39) |
I342N |
possibly damaging |
Het |
Reln |
A |
T |
5: 22,152,406 (GRCm39) |
D2353E |
probably damaging |
Het |
Rmdn3 |
T |
C |
2: 118,976,851 (GRCm39) |
E294G |
probably benign |
Het |
Scnn1g |
A |
G |
7: 121,366,647 (GRCm39) |
M615V |
probably benign |
Het |
Shcbp1l |
T |
A |
1: 153,304,314 (GRCm39) |
D124E |
possibly damaging |
Het |
Sipa1l1 |
T |
C |
12: 82,472,054 (GRCm39) |
S1345P |
possibly damaging |
Het |
Taf7l2 |
T |
C |
10: 115,948,707 (GRCm39) |
E273G |
possibly damaging |
Het |
Timp4 |
A |
G |
6: 115,226,802 (GRCm39) |
Y114H |
probably damaging |
Het |
Tlr9 |
T |
A |
9: 106,102,086 (GRCm39) |
L459Q |
probably benign |
Het |
Tmem104 |
C |
A |
11: 115,091,654 (GRCm39) |
T59K |
probably damaging |
Het |
Wdr59 |
GGGTGGTG |
GGGTG |
8: 112,207,172 (GRCm39) |
|
probably benign |
Het |
Zfp622 |
A |
T |
15: 25,984,654 (GRCm39) |
I7F |
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 |
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'- AAATCCCCTGCTCAGTGAGAAAGC -3'
(R):5'- GTGAAAAGGAACCCAGTCCCATGTC -3'
Sequencing Primer
(F):5'- GCAGAGTTGACATCTCTACCTG -3'
(R):5'- CTCTTCAGGAAGTGAGATCCCAATG -3'
|
Posted On |
2013-06-12 |