Incidental Mutation 'IGL00507:Cc2d1b'
| ID |
332526 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cc2d1b
|
| Ensembl Gene |
ENSMUSG00000028582 |
| Gene Name |
coiled-coil and C2 domain containing 1B |
| Synonyms |
Freud2, A830039B04Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.631)
|
| Stock # |
IGL00507
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
108477137-108491320 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 108486927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 647
(A647S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030320]
|
| AlphaFold |
Q8BRN9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030320
AA Change: A647S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030320
Gene: ENSMUSG00000028582
AA Change: A647S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
110 |
N/A |
INTRINSIC |
|
DM14
|
167 |
224 |
1.11e-20 |
SMART |
|
DM14
|
278 |
335 |
5.07e-24 |
SMART |
|
low complexity region
|
370 |
382 |
N/A |
INTRINSIC |
|
DM14
|
383 |
441 |
8.62e-27 |
SMART |
|
low complexity region
|
487 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
509 |
522 |
N/A |
INTRINSIC |
|
DM14
|
527 |
585 |
6.44e-26 |
SMART |
|
coiled coil region
|
604 |
626 |
N/A |
INTRINSIC |
|
C2
|
690 |
804 |
8.05e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000106665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126156
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000134844
AA Change: A568S
|
| SMART Domains |
Protein: ENSMUSP00000123277
Gene: ENSMUSG00000028582
AA Change: A568S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
51 |
N/A |
INTRINSIC |
|
DM14
|
108 |
165 |
1.11e-20 |
SMART |
|
DM14
|
200 |
257 |
5.07e-24 |
SMART |
|
low complexity region
|
292 |
304 |
N/A |
INTRINSIC |
|
DM14
|
305 |
363 |
8.62e-27 |
SMART |
|
low complexity region
|
409 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
444 |
N/A |
INTRINSIC |
|
DM14
|
449 |
507 |
6.44e-26 |
SMART |
|
coiled coil region
|
525 |
547 |
N/A |
INTRINSIC |
|
C2
|
612 |
726 |
8.05e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143336
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193462
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170933
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176877
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
C |
T |
9: 54,529,712 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
T |
A |
1: 25,113,796 (GRCm39) |
R1450S |
possibly damaging |
Het |
| Apc |
A |
G |
18: 34,449,979 (GRCm39) |
I2258V |
probably benign |
Het |
| Atxn2l |
C |
A |
7: 126,095,756 (GRCm39) |
A374S |
possibly damaging |
Het |
| Cacna1a |
T |
A |
8: 85,297,837 (GRCm39) |
Y1182* |
probably null |
Het |
| Csn2 |
A |
G |
5: 87,842,632 (GRCm39) |
S116P |
probably benign |
Het |
| Eya4 |
G |
A |
10: 23,033,434 (GRCm39) |
Q163* |
probably null |
Het |
| Fam47c |
A |
T |
X: 77,781,931 (GRCm39) |
D171V |
probably benign |
Het |
| Fhdc1 |
A |
T |
3: 84,356,107 (GRCm39) |
C446S |
probably damaging |
Het |
| Fkbp9 |
T |
A |
6: 56,827,686 (GRCm39) |
V169E |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,926,048 (GRCm39) |
I3751F |
probably damaging |
Het |
| Gkn1 |
T |
C |
6: 87,323,321 (GRCm39) |
Y164C |
probably damaging |
Het |
| Hs3st5 |
T |
C |
10: 36,708,918 (GRCm39) |
I151T |
probably benign |
Het |
| Ighv8-6 |
A |
T |
12: 115,129,472 (GRCm39) |
S95T |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,420,263 (GRCm39) |
I296V |
probably benign |
Het |
| Lrrc66 |
T |
C |
5: 73,764,457 (GRCm39) |
E862G |
probably benign |
Het |
| Ltbp3 |
T |
C |
19: 5,806,044 (GRCm39) |
V934A |
probably damaging |
Het |
| Mpp3 |
A |
T |
11: 101,892,929 (GRCm39) |
I501K |
possibly damaging |
Het |
| Mroh2b |
C |
T |
15: 4,991,609 (GRCm39) |
T1569I |
probably damaging |
Het |
| Nup133 |
A |
T |
8: 124,645,706 (GRCm39) |
Y626* |
probably null |
Het |
| Pak3 |
T |
A |
X: 142,572,329 (GRCm39) |
N477K |
probably damaging |
Het |
| Plod3 |
A |
G |
5: 137,025,030 (GRCm39) |
H714R |
possibly damaging |
Het |
| Ppil1 |
T |
C |
17: 29,470,675 (GRCm39) |
N102S |
probably damaging |
Het |
| Rapgef6 |
A |
T |
11: 54,554,935 (GRCm39) |
R996* |
probably null |
Het |
| Scd3 |
G |
A |
19: 44,224,273 (GRCm39) |
D169N |
probably damaging |
Het |
| Sgo2a |
T |
A |
1: 58,055,753 (GRCm39) |
F646I |
probably damaging |
Het |
| Slc5a8 |
A |
G |
10: 88,743,902 (GRCm39) |
Y346C |
possibly damaging |
Het |
| Slc7a15 |
A |
T |
12: 8,585,474 (GRCm39) |
V49E |
probably damaging |
Het |
| Stard8 |
G |
A |
X: 98,112,941 (GRCm39) |
E649K |
probably damaging |
Het |
|
| Other mutations in Cc2d1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Cc2d1b
|
APN |
4 |
108,484,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00596:Cc2d1b
|
APN |
4 |
108,484,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02800:Cc2d1b
|
APN |
4 |
108,483,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02937:Cc2d1b
|
APN |
4 |
108,489,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0440:Cc2d1b
|
UTSW |
4 |
108,483,013 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1513:Cc2d1b
|
UTSW |
4 |
108,490,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1592:Cc2d1b
|
UTSW |
4 |
108,483,868 (GRCm39) |
unclassified |
probably benign |
|
|
R1663:Cc2d1b
|
UTSW |
4 |
108,480,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4235:Cc2d1b
|
UTSW |
4 |
108,482,549 (GRCm39) |
intron |
probably benign |
|
|
R4361:Cc2d1b
|
UTSW |
4 |
108,481,947 (GRCm39) |
intron |
probably benign |
|
|
R4739:Cc2d1b
|
UTSW |
4 |
108,485,239 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5068:Cc2d1b
|
UTSW |
4 |
108,480,661 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5152:Cc2d1b
|
UTSW |
4 |
108,483,283 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5271:Cc2d1b
|
UTSW |
4 |
108,480,826 (GRCm39) |
intron |
probably benign |
|
|
R5520:Cc2d1b
|
UTSW |
4 |
108,483,556 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6196:Cc2d1b
|
UTSW |
4 |
108,490,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Cc2d1b
|
UTSW |
4 |
108,490,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6198:Cc2d1b
|
UTSW |
4 |
108,490,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6220:Cc2d1b
|
UTSW |
4 |
108,490,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6299:Cc2d1b
|
UTSW |
4 |
108,485,335 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7244:Cc2d1b
|
UTSW |
4 |
108,486,799 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7293:Cc2d1b
|
UTSW |
4 |
108,488,873 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8105:Cc2d1b
|
UTSW |
4 |
108,485,130 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8835:Cc2d1b
|
UTSW |
4 |
108,484,264 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8991:Cc2d1b
|
UTSW |
4 |
108,482,143 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9022:Cc2d1b
|
UTSW |
4 |
108,484,617 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9068:Cc2d1b
|
UTSW |
4 |
108,482,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9196:Cc2d1b
|
UTSW |
4 |
108,485,134 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2015-08-05 |
Incidental Mutation