Incidental Mutation 'IGL02860:Ccdc112'
| ID |
362115 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc112
|
| Ensembl Gene |
ENSMUSG00000071855 |
| Gene Name |
coiled-coil domain containing 112 |
| Synonyms |
8430438M01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
IGL02860
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
46415218-46444995 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46420509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 414
(F414L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072835]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072835
AA Change: F414L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000072614
Gene: ENSMUSG00000071855
AA Change: F414L
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
A |
T |
9: 90,073,915 (GRCm39) |
M832L |
probably benign |
Het |
| Cars1 |
A |
T |
7: 143,140,158 (GRCm39) |
D99E |
probably damaging |
Het |
| Chst15 |
C |
T |
7: 131,870,831 (GRCm39) |
V235I |
probably benign |
Het |
| Dysf |
G |
T |
6: 84,167,880 (GRCm39) |
|
probably null |
Het |
| Elavl2 |
T |
C |
4: 91,149,190 (GRCm39) |
D174G |
probably damaging |
Het |
| Gapdhs |
T |
A |
7: 30,429,308 (GRCm39) |
|
probably null |
Het |
| Gnb1l |
G |
A |
16: 18,371,285 (GRCm39) |
G259R |
probably damaging |
Het |
| Ighv9-2 |
T |
G |
12: 114,072,857 (GRCm39) |
I39L |
possibly damaging |
Het |
| Kntc1 |
T |
A |
5: 123,907,936 (GRCm39) |
N474K |
possibly damaging |
Het |
| Lrrc8c |
T |
C |
5: 105,727,481 (GRCm39) |
|
probably benign |
Het |
| Lyn |
C |
T |
4: 3,745,594 (GRCm39) |
A131V |
possibly damaging |
Het |
| Mindy2 |
T |
C |
9: 70,563,826 (GRCm39) |
E168G |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,611,821 (GRCm39) |
|
probably benign |
Het |
| Naip6 |
T |
C |
13: 100,436,984 (GRCm39) |
Q513R |
possibly damaging |
Het |
| Nell1 |
A |
T |
7: 50,498,233 (GRCm39) |
I597F |
probably damaging |
Het |
| Nudt12 |
T |
A |
17: 59,317,430 (GRCm39) |
R72S |
probably benign |
Het |
| Pan2 |
C |
T |
10: 128,146,604 (GRCm39) |
R414* |
probably null |
Het |
| Rb1 |
T |
C |
14: 73,443,452 (GRCm39) |
R768G |
probably damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,550,255 (GRCm39) |
E440G |
possibly damaging |
Het |
| Serpinb3a |
C |
T |
1: 106,977,183 (GRCm39) |
|
probably benign |
Het |
| Stx8 |
C |
A |
11: 67,875,391 (GRCm39) |
T72K |
probably damaging |
Het |
| Tecrl |
A |
G |
5: 83,502,844 (GRCm39) |
F2L |
probably benign |
Het |
| Tmem263 |
C |
T |
10: 84,950,416 (GRCm39) |
T69I |
probably damaging |
Het |
| Ttc39b |
T |
C |
4: 83,181,983 (GRCm39) |
N49D |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,547,359 (GRCm39) |
L32229P |
probably damaging |
Het |
| Zfp358 |
T |
C |
8: 3,546,074 (GRCm39) |
F219L |
probably damaging |
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 |
|
R0546:Ccdc112
|
UTSW |
18 |
46,424,139 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0566:Ccdc112
|
UTSW |
18 |
46,423,877 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation