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: 0.061)
|
| Stock # |
R0534 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
45934619-45944145 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45935138 bp (GRCm38)
|
| 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 |
|---|
| 4933416C03Rik |
T |
C |
10: 116,112,802 (GRCm38) |
E273G |
possibly damaging |
Het |
| 4933425L06Rik |
C |
A |
13: 105,082,254 (GRCm38) |
S32* |
probably null |
Het |
| Cand2 |
A |
G |
6: 115,787,236 (GRCm38) |
M324V |
probably damaging |
Het |
| Cap1 |
C |
T |
4: 122,862,719 (GRCm38) |
V340M |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,143,900 (GRCm38) |
D139G |
probably benign |
Het |
| Cwc27 |
T |
A |
13: 104,631,616 (GRCm38) |
E457V |
unknown |
Het |
| Cxxc1 |
C |
T |
18: 74,218,891 (GRCm38) |
P280S |
probably benign |
Het |
| Dopey2 |
T |
A |
16: 93,762,505 (GRCm38) |
L595Q |
probably benign |
Het |
| Dscam |
G |
T |
16: 96,652,172 (GRCm38) |
S1292R |
possibly damaging |
Het |
| E2f4 |
C |
A |
8: 105,304,219 (GRCm38) |
F353L |
probably damaging |
Het |
| Ep300 |
A |
G |
15: 81,600,896 (GRCm38) |
|
probably benign |
Het |
| Fads1 |
C |
T |
19: 10,183,065 (GRCm38) |
P5L |
probably benign |
Het |
| Fign |
T |
A |
2: 63,980,791 (GRCm38) |
H45L |
probably damaging |
Het |
| Flcn |
T |
A |
11: 59,794,199 (GRCm38) |
|
probably benign |
Het |
| Gm5141 |
A |
T |
13: 62,774,594 (GRCm38) |
F254I |
probably damaging |
Het |
| Gpbp1l1 |
T |
A |
4: 116,591,268 (GRCm38) |
N402K |
probably damaging |
Het |
| Gpr37 |
A |
T |
6: 25,669,824 (GRCm38) |
C340* |
probably null |
Het |
| Gtf3c2 |
A |
T |
5: 31,158,132 (GRCm38) |
|
probably benign |
Het |
| Hcfc2 |
T |
A |
10: 82,738,408 (GRCm38) |
F139I |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,348,476 (GRCm38) |
L3178P |
possibly damaging |
Het |
| Hrc |
AGAGGAGGAGGAAGAGGAGGAGGA |
AGAGGAGGAGGAGGAAGAGGAGGAGGA |
7: 45,337,235 (GRCm38) |
|
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,966,796 (GRCm38) |
|
probably benign |
Het |
| Igsf9b |
T |
G |
9: 27,333,062 (GRCm38) |
|
probably null |
Het |
| Il23r |
G |
A |
6: 67,426,588 (GRCm38) |
A443V |
probably benign |
Het |
| Kcnv1 |
A |
G |
15: 45,109,249 (GRCm38) |
F413L |
probably damaging |
Het |
| Lipe |
C |
A |
7: 25,388,186 (GRCm38) |
A150S |
possibly damaging |
Het |
| Lrrcc1 |
T |
C |
3: 14,557,273 (GRCm38) |
S557P |
probably damaging |
Het |
| Mrpl54 |
C |
A |
10: 81,266,853 (GRCm38) |
W13L |
probably damaging |
Het |
| Myrf |
G |
C |
19: 10,218,162 (GRCm38) |
T428S |
probably benign |
Het |
| Npy1r |
C |
A |
8: 66,705,018 (GRCm38) |
Q327K |
probably damaging |
Het |
| Olfr64 |
C |
T |
7: 103,893,231 (GRCm38) |
R168H |
probably benign |
Het |
| Osbpl10 |
C |
T |
9: 115,167,178 (GRCm38) |
L139F |
probably damaging |
Het |
| P2rx6 |
A |
C |
16: 17,567,904 (GRCm38) |
T199P |
probably damaging |
Het |
| Phyhip |
A |
T |
14: 70,461,759 (GRCm38) |
M1L |
possibly damaging |
Het |
| Pkd1l3 |
C |
G |
8: 109,623,649 (GRCm38) |
D375E |
possibly damaging |
Het |
| Psmc1 |
T |
A |
12: 100,120,130 (GRCm38) |
I342N |
possibly damaging |
Het |
| Reln |
A |
T |
5: 21,947,408 (GRCm38) |
D2353E |
probably damaging |
Het |
| Rmdn3 |
T |
C |
2: 119,146,370 (GRCm38) |
E294G |
probably benign |
Het |
| Scnn1g |
A |
G |
7: 121,767,424 (GRCm38) |
M615V |
probably benign |
Het |
| Shcbp1l |
T |
A |
1: 153,428,568 (GRCm38) |
D124E |
possibly damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,425,280 (GRCm38) |
S1345P |
possibly damaging |
Het |
| Soga3 |
T |
A |
10: 29,180,956 (GRCm38) |
|
probably benign |
Het |
| St5 |
A |
T |
7: 109,541,428 (GRCm38) |
V197D |
probably damaging |
Het |
| Timp4 |
A |
G |
6: 115,249,841 (GRCm38) |
Y114H |
probably damaging |
Het |
| Tlr9 |
T |
A |
9: 106,224,887 (GRCm38) |
L459Q |
probably benign |
Het |
| Tmem104 |
C |
A |
11: 115,200,828 (GRCm38) |
T59K |
probably damaging |
Het |
| Wdr59 |
GGGTGGTG |
GGGTG |
8: 111,480,540 (GRCm38) |
|
probably benign |
Het |
| Zfp622 |
A |
T |
15: 25,984,568 (GRCm38) |
I7F |
possibly damaging |
Het |
|
| Other mutations in Ccdc110 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01898:Ccdc110
|
APN |
8 |
45,942,124 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
IGL02175:Ccdc110
|
APN |
8 |
45,940,623 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL02471:Ccdc110
|
APN |
8 |
45,941,756 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL02524:Ccdc110
|
APN |
8 |
45,941,942 (GRCm38) |
missense |
probably benign |
|
|
IGL02887:Ccdc110
|
APN |
8 |
45,943,184 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03227:Ccdc110
|
APN |
8 |
45,941,549 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03238:Ccdc110
|
APN |
8 |
45,941,822 (GRCm38) |
missense |
probably benign |
0.00 |
|
droll
|
UTSW |
8 |
45,942,827 (GRCm38) |
missense |
probably benign |
0.10 |
|
humorless
|
UTSW |
8 |
45,943,450 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0049:Ccdc110
|
UTSW |
8 |
45,942,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0049:Ccdc110
|
UTSW |
8 |
45,942,626 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0110:Ccdc110
|
UTSW |
8 |
45,935,157 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0189:Ccdc110
|
UTSW |
8 |
45,935,082 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0218:Ccdc110
|
UTSW |
8 |
45,934,724 (GRCm38) |
splice site |
probably benign |
|
|
R0280:Ccdc110
|
UTSW |
8 |
45,943,450 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0332:Ccdc110
|
UTSW |
8 |
45,942,964 (GRCm38) |
nonsense |
probably null |
|
|
R0371:Ccdc110
|
UTSW |
8 |
45,942,806 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R0469:Ccdc110
|
UTSW |
8 |
45,935,157 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0502:Ccdc110
|
UTSW |
8 |
45,934,724 (GRCm38) |
splice site |
probably benign |
|
|
R0510:Ccdc110
|
UTSW |
8 |
45,935,157 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0647:Ccdc110
|
UTSW |
8 |
45,943,388 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0714:Ccdc110
|
UTSW |
8 |
45,943,010 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R0721:Ccdc110
|
UTSW |
8 |
45,941,989 (GRCm38) |
missense |
probably benign |
|
|
R1029:Ccdc110
|
UTSW |
8 |
45,941,780 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1147:Ccdc110
|
UTSW |
8 |
45,944,084 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R1147:Ccdc110
|
UTSW |
8 |
45,944,084 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R1170:Ccdc110
|
UTSW |
8 |
45,941,885 (GRCm38) |
missense |
probably benign |
0.22 |
|
R1340:Ccdc110
|
UTSW |
8 |
45,942,181 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1540:Ccdc110
|
UTSW |
8 |
45,942,325 (GRCm38) |
nonsense |
probably null |
|
|
R1587:Ccdc110
|
UTSW |
8 |
45,941,746 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1602:Ccdc110
|
UTSW |
8 |
45,938,918 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1629:Ccdc110
|
UTSW |
8 |
45,942,127 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1842:Ccdc110
|
UTSW |
8 |
45,940,568 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1933:Ccdc110
|
UTSW |
8 |
45,943,250 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1934:Ccdc110
|
UTSW |
8 |
45,943,250 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2006:Ccdc110
|
UTSW |
8 |
45,943,312 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2043:Ccdc110
|
UTSW |
8 |
45,942,827 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2093:Ccdc110
|
UTSW |
8 |
45,942,077 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2165:Ccdc110
|
UTSW |
8 |
45,942,839 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3613:Ccdc110
|
UTSW |
8 |
45,942,806 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R3923:Ccdc110
|
UTSW |
8 |
45,942,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4648:Ccdc110
|
UTSW |
8 |
45,942,668 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4773:Ccdc110
|
UTSW |
8 |
45,943,208 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4901:Ccdc110
|
UTSW |
8 |
45,943,400 (GRCm38) |
missense |
probably benign |
0.35 |
|
R4911:Ccdc110
|
UTSW |
8 |
45,942,907 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4923:Ccdc110
|
UTSW |
8 |
45,943,423 (GRCm38) |
missense |
probably benign |
0.29 |
|
R5104:Ccdc110
|
UTSW |
8 |
45,942,692 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5561:Ccdc110
|
UTSW |
8 |
45,940,609 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5966:Ccdc110
|
UTSW |
8 |
45,942,536 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5976:Ccdc110
|
UTSW |
8 |
45,943,499 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R6141:Ccdc110
|
UTSW |
8 |
45,941,770 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6326:Ccdc110
|
UTSW |
8 |
45,942,041 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6366:Ccdc110
|
UTSW |
8 |
45,943,388 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6405:Ccdc110
|
UTSW |
8 |
45,941,697 (GRCm38) |
nonsense |
probably null |
|
|
R6482:Ccdc110
|
UTSW |
8 |
45,942,788 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6815:Ccdc110
|
UTSW |
8 |
45,941,987 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7387:Ccdc110
|
UTSW |
8 |
45,942,196 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7680:Ccdc110
|
UTSW |
8 |
45,941,651 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R8099:Ccdc110
|
UTSW |
8 |
45,942,093 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8114:Ccdc110
|
UTSW |
8 |
45,943,103 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8151:Ccdc110
|
UTSW |
8 |
45,942,793 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8295:Ccdc110
|
UTSW |
8 |
45,943,379 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8532:Ccdc110
|
UTSW |
8 |
45,942,995 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9072:Ccdc110
|
UTSW |
8 |
45,942,838 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9073:Ccdc110
|
UTSW |
8 |
45,942,838 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9088:Ccdc110
|
UTSW |
8 |
45,941,845 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9803:Ccdc110
|
UTSW |
8 |
45,942,589 (GRCm38) |
missense |
probably benign |
|
|
X0053:Ccdc110
|
UTSW |
8 |
45,942,961 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
X0054:Ccdc110
|
UTSW |
8 |
45,941,843 (GRCm38) |
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 |
Incidental Mutation