Incidental Mutation 'R1161:Ccdc106'
| ID |
100403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc106
|
| Ensembl Gene |
ENSMUSG00000035228 |
| Gene Name |
coiled-coil domain containing 106 |
| Synonyms |
|
| MMRRC Submission |
039234-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R1161 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
5056847-5063784 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 5062539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 11
(D11N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005041]
[ENSMUST00000045543]
[ENSMUST00000108571]
[ENSMUST00000207097]
[ENSMUST00000208728]
[ENSMUST00000207974]
[ENSMUST00000207215]
[ENSMUST00000208042]
[ENSMUST00000209099]
[ENSMUST00000208161]
|
| AlphaFold |
Q3ULM0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005041
|
| SMART Domains |
Protein: ENSMUSP00000005041
Gene: ENSMUSG00000030435
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
62 |
N/A |
INTRINSIC |
|
PDB:1JMT|B
|
85 |
112 |
9e-13 |
PDB |
|
RRM
|
150 |
227 |
1.26e-11 |
SMART |
|
low complexity region
|
242 |
257 |
N/A |
INTRINSIC |
|
RRM
|
260 |
333 |
8.64e-19 |
SMART |
|
RRM
|
377 |
462 |
3.04e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045543
AA Change: D120N
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000041033
Gene: ENSMUSG00000035228
AA Change: D120N
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
62 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108571
AA Change: D182N
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104211
Gene: ENSMUSG00000035228
AA Change: D182N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC106
|
117 |
337 |
1.4e-100 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145534
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149912
AA Change: G416E
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207097
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208728
AA Change: D11N
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207974
AA Change: D120N
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208606
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207548
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208042
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209099
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207960
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208419
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208161
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.4%
- 10x: 95.7%
- 20x: 89.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl10 |
T |
G |
3: 145,636,180 (GRCm39) |
V26G |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,948,567 (GRCm39) |
V1581A |
probably damaging |
Het |
| Camk1g |
T |
C |
1: 193,030,662 (GRCm39) |
D349G |
probably benign |
Het |
| Ckap5 |
T |
G |
2: 91,429,720 (GRCm39) |
L1464R |
probably null |
Het |
| Def6 |
G |
A |
17: 28,436,593 (GRCm39) |
V86I |
probably benign |
Het |
| Dnm3 |
T |
A |
1: 162,181,143 (GRCm39) |
T179S |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Eme1 |
G |
A |
11: 94,536,368 (GRCm39) |
R534C |
probably damaging |
Het |
| Fhip1a |
A |
G |
3: 85,579,775 (GRCm39) |
I810T |
probably damaging |
Het |
| Fzd3 |
G |
A |
14: 65,449,537 (GRCm39) |
R514C |
probably damaging |
Het |
| H2-T24 |
G |
T |
17: 36,325,888 (GRCm39) |
Y234* |
probably null |
Het |
| Ifit1bl1 |
A |
G |
19: 34,571,096 (GRCm39) |
S454P |
possibly damaging |
Het |
| Ipcef1 |
T |
A |
10: 6,930,288 (GRCm39) |
|
probably null |
Het |
| Mmel1 |
C |
T |
4: 154,979,671 (GRCm39) |
R764C |
probably damaging |
Het |
| Or7e166 |
A |
G |
9: 19,624,476 (GRCm39) |
M118V |
probably damaging |
Het |
| Pde4c |
A |
G |
8: 71,202,572 (GRCm39) |
D592G |
possibly damaging |
Het |
| Prx |
T |
C |
7: 27,219,102 (GRCm39) |
F1340S |
probably damaging |
Het |
| Rgs7 |
T |
C |
1: 174,907,021 (GRCm39) |
T90A |
probably damaging |
Het |
| Scn11a |
C |
T |
9: 119,584,123 (GRCm39) |
W1497* |
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Srrm3 |
CAAGAAGAAGAAGAA |
CAAGAAGAAGAA |
5: 135,883,246 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,069,416 (GRCm39) |
Y2790F |
possibly damaging |
Het |
| Tmeff2 |
T |
C |
1: 51,220,946 (GRCm39) |
V307A |
probably damaging |
Het |
| Tmem38a |
T |
A |
8: 73,333,814 (GRCm39) |
F98I |
probably damaging |
Het |
| Trp73 |
A |
G |
4: 154,165,780 (GRCm39) |
|
probably null |
Het |
| Usp29 |
A |
G |
7: 6,964,529 (GRCm39) |
E124G |
probably damaging |
Het |
|
| Other mutations in Ccdc106 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02028:Ccdc106
|
APN |
7 |
5,062,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0089:Ccdc106
|
UTSW |
7 |
5,059,220 (GRCm39) |
splice site |
probably null |
|
|
R0103:Ccdc106
|
UTSW |
7 |
5,060,544 (GRCm39) |
missense |
probably benign |
|
|
R0103:Ccdc106
|
UTSW |
7 |
5,060,544 (GRCm39) |
missense |
probably benign |
|
|
R0440:Ccdc106
|
UTSW |
7 |
5,063,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0705:Ccdc106
|
UTSW |
7 |
5,062,539 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0753:Ccdc106
|
UTSW |
7 |
5,062,539 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0767:Ccdc106
|
UTSW |
7 |
5,062,539 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0769:Ccdc106
|
UTSW |
7 |
5,062,539 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0775:Ccdc106
|
UTSW |
7 |
5,062,539 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0788:Ccdc106
|
UTSW |
7 |
5,060,533 (GRCm39) |
unclassified |
probably benign |
|
|
R0817:Ccdc106
|
UTSW |
7 |
5,062,539 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0818:Ccdc106
|
UTSW |
7 |
5,062,539 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0819:Ccdc106
|
UTSW |
7 |
5,062,539 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1451:Ccdc106
|
UTSW |
7 |
5,062,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Ccdc106
|
UTSW |
7 |
5,062,539 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4771:Ccdc106
|
UTSW |
7 |
5,060,521 (GRCm39) |
splice site |
probably null |
|
|
R5306:Ccdc106
|
UTSW |
7 |
5,061,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Ccdc106
|
UTSW |
7 |
5,063,159 (GRCm39) |
unclassified |
probably benign |
|
|
R7256:Ccdc106
|
UTSW |
7 |
5,063,325 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7467:Ccdc106
|
UTSW |
7 |
5,063,325 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8852:Ccdc106
|
UTSW |
7 |
5,062,570 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8860:Ccdc106
|
UTSW |
7 |
5,062,570 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8959:Ccdc106
|
UTSW |
7 |
5,060,500 (GRCm39) |
missense |
probably benign |
|
|
R9393:Ccdc106
|
UTSW |
7 |
5,059,200 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation