Incidental Mutation 'IGL02800:Cc2d1b'
| ID |
360138 |
| 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: 0.615)
|
| Stock # |
IGL02800
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
108477137-108491320 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108483333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 306
(L306F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030320]
|
| AlphaFold |
Q8BRN9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030320
AA Change: L306F
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000030320
Gene: ENSMUSG00000028582
AA Change: L306F
| 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: L227F
|
| SMART Domains |
Protein: ENSMUSP00000123277
Gene: ENSMUSG00000028582
AA Change: L227F
| 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: ENSMUST00000176877
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193462
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,296,349 (GRCm39) |
I1045T |
probably damaging |
Het |
| Ankrd22 |
T |
C |
19: 34,143,181 (GRCm39) |
|
probably benign |
Het |
| Bahcc1 |
A |
G |
11: 120,163,760 (GRCm39) |
D686G |
probably damaging |
Het |
| Carns1 |
A |
G |
19: 4,216,569 (GRCm39) |
|
probably benign |
Het |
| Ccdc153 |
A |
G |
9: 44,157,129 (GRCm39) |
E135G |
probably damaging |
Het |
| Ccne1 |
T |
C |
7: 37,802,224 (GRCm39) |
D148G |
probably damaging |
Het |
| Cfap57 |
A |
T |
4: 118,471,947 (GRCm39) |
M144K |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,826,552 (GRCm39) |
V1049A |
probably damaging |
Het |
| Cpne9 |
A |
G |
6: 113,279,034 (GRCm39) |
D476G |
probably benign |
Het |
| Dna2 |
T |
C |
10: 62,797,504 (GRCm39) |
|
probably null |
Het |
| Eif4h |
T |
C |
5: 134,656,459 (GRCm39) |
D77G |
probably benign |
Het |
| Fhl2 |
C |
T |
1: 43,167,562 (GRCm39) |
R177Q |
probably benign |
Het |
| Fxyd5 |
C |
T |
7: 30,732,404 (GRCm39) |
R176H |
possibly damaging |
Het |
| G6pd2 |
A |
G |
5: 61,966,735 (GRCm39) |
E170G |
probably damaging |
Het |
| Haus3 |
A |
G |
5: 34,323,668 (GRCm39) |
I314T |
possibly damaging |
Het |
| Igkv4-54 |
A |
G |
6: 69,608,862 (GRCm39) |
V41A |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,053,092 (GRCm39) |
C461S |
probably damaging |
Het |
| Lsr |
T |
C |
7: 30,657,838 (GRCm39) |
D442G |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,015,183 (GRCm39) |
I847V |
probably damaging |
Het |
| Mia2 |
C |
T |
12: 59,235,277 (GRCm39) |
R1326* |
probably null |
Het |
| Myo15a |
C |
A |
11: 60,393,195 (GRCm39) |
H2240N |
probably damaging |
Het |
| Or1e17 |
A |
G |
11: 73,831,942 (GRCm39) |
Y290C |
probably damaging |
Het |
| Or4f62 |
A |
T |
2: 111,986,589 (GRCm39) |
I98F |
possibly damaging |
Het |
| Osgep |
T |
A |
14: 51,153,314 (GRCm39) |
|
probably benign |
Het |
| Pcnt |
G |
A |
10: 76,248,417 (GRCm39) |
Q901* |
probably null |
Het |
| Pgm3 |
T |
C |
9: 86,437,431 (GRCm39) |
E481G |
possibly damaging |
Het |
| Plch1 |
T |
A |
3: 63,605,899 (GRCm39) |
D1326V |
probably benign |
Het |
| Rabgap1l |
T |
C |
1: 160,299,623 (GRCm39) |
D590G |
possibly damaging |
Het |
| Rapsn |
A |
G |
2: 90,873,584 (GRCm39) |
M244V |
probably benign |
Het |
| Rcbtb2 |
T |
A |
14: 73,405,543 (GRCm39) |
Y299* |
probably null |
Het |
| Slc8a1 |
A |
T |
17: 81,715,752 (GRCm39) |
D760E |
probably benign |
Het |
| Smim23 |
C |
A |
11: 32,774,424 (GRCm39) |
|
probably null |
Het |
| Sva |
A |
G |
6: 42,017,069 (GRCm39) |
T59A |
unknown |
Het |
| Tacc2 |
T |
A |
7: 130,225,809 (GRCm39) |
D831E |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,635,154 (GRCm39) |
N551S |
probably benign |
Het |
| Tg |
G |
T |
15: 66,629,735 (GRCm39) |
W472L |
probably damaging |
Het |
| Tmem231 |
A |
G |
8: 112,640,664 (GRCm39) |
V283A |
probably benign |
Het |
| Traf4 |
A |
T |
11: 78,051,061 (GRCm39) |
I365N |
possibly damaging |
Het |
| Usf3 |
G |
A |
16: 44,039,459 (GRCm39) |
S1313N |
probably benign |
Het |
| Vangl1 |
G |
A |
3: 102,070,611 (GRCm39) |
|
probably benign |
Het |
| Wdr70 |
T |
C |
15: 8,111,980 (GRCm39) |
S88G |
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 |
|
IGL00596:Cc2d1b
|
APN |
4 |
108,484,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation