Incidental Mutation 'R0566:Ccdc112'
ID |
46199 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc112
|
Ensembl Gene |
ENSMUSG00000071855 |
Gene Name |
coiled-coil domain containing 112 |
Synonyms |
8430438M01Rik |
MMRRC Submission |
038757-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R0566 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
46415218-46444995 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 46423877 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 287
(V287G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072614
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072835]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072835
AA Change: V287G
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000072614 Gene: ENSMUSG00000071855 AA Change: V287G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
coiled coil region
|
111 |
199 |
N/A |
INTRINSIC |
coiled coil region
|
300 |
332 |
N/A |
INTRINSIC |
low complexity region
|
345 |
355 |
N/A |
INTRINSIC |
coiled coil region
|
362 |
483 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
Validation Efficiency |
96% (24/25) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsf3 |
T |
C |
8: 123,508,266 (GRCm39) |
L254P |
possibly damaging |
Het |
Adamts6 |
C |
A |
13: 104,581,435 (GRCm39) |
A850E |
probably benign |
Het |
Ctbp2 |
A |
G |
7: 132,592,876 (GRCm39) |
V811A |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,408,402 (GRCm39) |
V1810A |
probably benign |
Het |
Dhx15 |
T |
G |
5: 52,328,767 (GRCm39) |
K287T |
probably damaging |
Het |
Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
Fryl |
T |
C |
5: 73,221,840 (GRCm39) |
|
probably benign |
Het |
Gnpda2 |
A |
G |
5: 69,742,304 (GRCm39) |
|
probably benign |
Het |
Mto1 |
T |
C |
9: 78,355,583 (GRCm39) |
F2S |
possibly damaging |
Het |
Nlrp1a |
A |
G |
11: 71,013,768 (GRCm39) |
L494P |
probably benign |
Het |
Or2r2 |
T |
A |
6: 42,464,025 (GRCm39) |
Y34F |
probably damaging |
Het |
Paqr8 |
C |
A |
1: 21,005,687 (GRCm39) |
H280Q |
possibly damaging |
Het |
Perm1 |
A |
T |
4: 156,302,316 (GRCm39) |
M287L |
probably benign |
Het |
Piwil2 |
A |
G |
14: 70,647,843 (GRCm39) |
V323A |
probably damaging |
Het |
Pon3 |
A |
G |
6: 5,232,408 (GRCm39) |
V131A |
possibly damaging |
Het |
Prima1 |
C |
A |
12: 103,163,573 (GRCm39) |
A133S |
probably benign |
Het |
Prl7c1 |
A |
G |
13: 27,962,961 (GRCm39) |
L14P |
probably damaging |
Het |
Prr23a2 |
T |
A |
9: 98,739,041 (GRCm39) |
L133H |
possibly damaging |
Het |
Samd3 |
T |
C |
10: 26,120,396 (GRCm39) |
V157A |
possibly damaging |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Tep1 |
A |
T |
14: 51,082,871 (GRCm39) |
|
probably null |
Het |
Tmem208 |
T |
C |
8: 106,061,475 (GRCm39) |
V167A |
probably benign |
Het |
Tnrc6a |
A |
T |
7: 122,770,136 (GRCm39) |
N642I |
probably benign |
Het |
Vps26a |
A |
G |
10: 62,316,325 (GRCm39) |
|
probably benign |
Het |
Zfp112 |
T |
C |
7: 23,825,102 (GRCm39) |
S357P |
probably benign |
Het |
|
Other mutations in Ccdc112 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01455:Ccdc112
|
APN |
18 |
46,426,511 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02860:Ccdc112
|
APN |
18 |
46,420,509 (GRCm39) |
missense |
probably benign |
0.00 |
R0546:Ccdc112
|
UTSW |
18 |
46,424,139 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1815:Ccdc112
|
UTSW |
18 |
46,424,173 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1847:Ccdc112
|
UTSW |
18 |
46,420,821 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1853:Ccdc112
|
UTSW |
18 |
46,418,767 (GRCm39) |
missense |
probably benign |
0.07 |
R2011:Ccdc112
|
UTSW |
18 |
46,420,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R3787:Ccdc112
|
UTSW |
18 |
46,432,365 (GRCm39) |
missense |
probably benign |
0.03 |
R4519:Ccdc112
|
UTSW |
18 |
46,420,613 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4795:Ccdc112
|
UTSW |
18 |
46,420,739 (GRCm39) |
missense |
probably benign |
0.20 |
R4873:Ccdc112
|
UTSW |
18 |
46,429,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R4875:Ccdc112
|
UTSW |
18 |
46,429,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R7208:Ccdc112
|
UTSW |
18 |
46,420,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R7807:Ccdc112
|
UTSW |
18 |
46,423,826 (GRCm39) |
missense |
probably damaging |
0.99 |
R7849:Ccdc112
|
UTSW |
18 |
46,429,390 (GRCm39) |
missense |
probably benign |
0.30 |
R8060:Ccdc112
|
UTSW |
18 |
46,426,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R8104:Ccdc112
|
UTSW |
18 |
46,420,720 (GRCm39) |
missense |
probably benign |
0.37 |
R8886:Ccdc112
|
UTSW |
18 |
46,444,826 (GRCm39) |
missense |
unknown |
|
R9005:Ccdc112
|
UTSW |
18 |
46,429,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R9433:Ccdc112
|
UTSW |
18 |
46,424,040 (GRCm39) |
missense |
probably benign |
0.44 |
R9708:Ccdc112
|
UTSW |
18 |
46,444,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTGCACTACAGAGCACAAGTCTCC -3'
(R):5'- TGACACAGAGGACGCTTCCAGAAC -3'
Sequencing Primer
(F):5'- GTTTCATCTGCTGTAAGAGACC -3'
(R):5'- CGCTTCCAGAACAAGTGGTAG -3'
|
Posted On |
2013-06-11 |