Incidental Mutation 'IGL00596:Cc2d1b'
| ID |
13343 |
| 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 # |
IGL00596
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
108477137-108491320 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108484503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 446
(I446T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030320]
|
| AlphaFold |
Q8BRN9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030320
AA Change: I446T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030320
Gene: ENSMUSG00000028582
AA Change: I446T
| 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: I367T
|
| SMART Domains |
Protein: ENSMUSP00000123277
Gene: ENSMUSG00000028582
AA Change: I367T
| 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: ENSMUST00000193462
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176877
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176846
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
G |
T |
6: 128,547,030 (GRCm39) |
N366K |
probably damaging |
Het |
| Adgrl3 |
G |
A |
5: 81,794,314 (GRCm39) |
R445Q |
probably benign |
Het |
| Cdhr2 |
A |
T |
13: 54,868,810 (GRCm39) |
N591Y |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,306,886 (GRCm39) |
R868G |
possibly damaging |
Het |
| Dkk2 |
A |
T |
3: 131,879,564 (GRCm39) |
D81V |
probably damaging |
Het |
| Dsg1c |
T |
A |
18: 20,414,899 (GRCm39) |
|
probably benign |
Het |
| Dym |
T |
A |
18: 75,252,320 (GRCm39) |
V362D |
probably benign |
Het |
| Epm2a |
A |
T |
10: 11,324,384 (GRCm39) |
|
probably null |
Het |
| Grid2 |
G |
T |
6: 64,510,688 (GRCm39) |
A773S |
possibly damaging |
Het |
| Iars2 |
A |
G |
1: 185,048,151 (GRCm39) |
V527A |
probably benign |
Het |
| Kcnj16 |
T |
C |
11: 110,915,349 (GRCm39) |
Y4H |
probably damaging |
Het |
| Krt6a |
T |
A |
15: 101,602,665 (GRCm39) |
I7F |
possibly damaging |
Het |
| Myo6 |
T |
G |
9: 80,189,025 (GRCm39) |
F757V |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,220,900 (GRCm39) |
L13P |
probably damaging |
Het |
| Nr2c2 |
A |
T |
6: 92,126,700 (GRCm39) |
K63M |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,466,576 (GRCm39) |
G1511D |
probably benign |
Het |
| Pomgnt2 |
A |
T |
9: 121,812,191 (GRCm39) |
W197R |
probably benign |
Het |
| Rint1 |
G |
A |
5: 24,016,863 (GRCm39) |
V543M |
probably damaging |
Het |
| Rnd2 |
G |
A |
11: 101,362,017 (GRCm39) |
R190H |
possibly damaging |
Het |
| Sh3rf3 |
A |
G |
10: 58,885,178 (GRCm39) |
S354G |
probably benign |
Het |
| Slc10a2 |
T |
C |
8: 5,141,680 (GRCm39) |
I235V |
probably benign |
Het |
| Steap4 |
G |
A |
5: 8,026,979 (GRCm39) |
R314H |
probably damaging |
Het |
| Ticrr |
A |
C |
7: 79,327,041 (GRCm39) |
N583T |
probably damaging |
Het |
| Tmem25 |
T |
A |
9: 44,706,816 (GRCm39) |
|
probably benign |
Het |
| Vps8 |
C |
T |
16: 21,267,162 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,345,226 (GRCm39) |
K2489R |
probably benign |
Het |
| Xlr4b |
T |
A |
X: 72,263,577 (GRCm39) |
|
probably benign |
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 |
|
IGL00507:Cc2d1b
|
APN |
4 |
108,486,927 (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 |
2012-12-06 |
Incidental Mutation