Incidental Mutation 'IGL02028:Ccdc106'
| ID |
184271 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc106
|
| Ensembl Gene |
ENSMUSG00000035228 |
| Gene Name |
coiled-coil domain containing 106 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
IGL02028
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
5056847-5063784 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5062645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 155
(Q155R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146775
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005041]
[ENSMUST00000045543]
[ENSMUST00000108571]
[ENSMUST00000207097]
[ENSMUST00000207215]
[ENSMUST00000207974]
[ENSMUST00000208728]
[ENSMUST00000209099]
[ENSMUST00000208161]
[ENSMUST00000208042]
|
| 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 |
probably damaging
Transcript: ENSMUST00000045543
AA Change: Q155R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041033
Gene: ENSMUSG00000035228
AA Change: Q155R
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
62 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108571
AA Change: Q217R
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104211
Gene: ENSMUSG00000035228
AA Change: Q217R
| 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 |
probably benign
Transcript: ENSMUST00000207097
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207215
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207974
AA Change: Q155R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208728
AA Change: Q46R
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208419
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207960
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209099
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208606
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207548
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208042
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi2 |
A |
G |
1: 60,473,442 (GRCm39) |
Y53C |
probably damaging |
Het |
| Acacb |
T |
A |
5: 114,304,076 (GRCm39) |
D166E |
probably damaging |
Het |
| Akap8l |
T |
C |
17: 32,557,495 (GRCm39) |
|
probably null |
Het |
| Arl6ip5 |
A |
G |
6: 97,206,611 (GRCm39) |
Y97C |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 80,024,936 (GRCm39) |
S1772R |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,983,861 (GRCm39) |
N446S |
probably benign |
Het |
| Cdh2 |
T |
C |
18: 16,783,477 (GRCm39) |
D84G |
probably benign |
Het |
| Cntn6 |
A |
G |
6: 104,836,387 (GRCm39) |
K918E |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,750,122 (GRCm39) |
D521G |
probably damaging |
Het |
| Dync2i1 |
C |
A |
12: 116,219,681 (GRCm39) |
R87L |
probably benign |
Het |
| Etv6 |
C |
T |
6: 134,225,696 (GRCm39) |
A309V |
probably benign |
Het |
| Ezh1 |
G |
T |
11: 101,090,166 (GRCm39) |
H529Q |
probably damaging |
Het |
| Figla |
T |
C |
6: 85,994,345 (GRCm39) |
L40P |
probably damaging |
Het |
| Gabra4 |
T |
A |
5: 71,790,939 (GRCm39) |
Q301L |
probably damaging |
Het |
| Glt1d1 |
G |
A |
5: 127,783,984 (GRCm39) |
V313M |
possibly damaging |
Het |
| Gm28778 |
T |
A |
1: 53,357,120 (GRCm39) |
I94K |
possibly damaging |
Het |
| Gm4847 |
T |
C |
1: 166,469,765 (GRCm39) |
K103E |
probably benign |
Het |
| Gne |
A |
G |
4: 44,066,852 (GRCm39) |
S23P |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,795,691 (GRCm39) |
C186R |
possibly damaging |
Het |
| Lrp1b |
C |
T |
2: 41,401,464 (GRCm39) |
V283I |
probably damaging |
Het |
| Mcm10 |
A |
T |
2: 5,013,511 (GRCm39) |
D40E |
possibly damaging |
Het |
| Morc2b |
T |
A |
17: 33,356,387 (GRCm39) |
I462F |
possibly damaging |
Het |
| Myh1 |
T |
A |
11: 67,101,441 (GRCm39) |
I711N |
probably damaging |
Het |
| Oit3 |
A |
G |
10: 59,274,477 (GRCm39) |
F108L |
probably damaging |
Het |
| Or4f4b |
T |
C |
2: 111,313,816 (GRCm39) |
F14L |
probably benign |
Het |
| Or8b49 |
T |
A |
9: 38,505,715 (GRCm39) |
L66* |
probably null |
Het |
| Polr1g |
T |
C |
7: 19,091,003 (GRCm39) |
K368R |
probably damaging |
Het |
| Rbm19 |
A |
G |
5: 120,258,301 (GRCm39) |
D172G |
probably damaging |
Het |
| Ribc2 |
A |
G |
15: 85,027,536 (GRCm39) |
D339G |
possibly damaging |
Het |
| Rras2 |
C |
A |
7: 113,659,597 (GRCm39) |
V56L |
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,594,002 (GRCm39) |
E1617G |
probably damaging |
Het |
| Slc13a1 |
T |
A |
6: 24,118,030 (GRCm39) |
M236L |
probably benign |
Het |
| Snrnp27 |
C |
T |
6: 86,659,955 (GRCm39) |
R13H |
unknown |
Het |
| Srgap2 |
T |
C |
1: 131,224,173 (GRCm39) |
K92E |
probably damaging |
Het |
| Suco |
T |
C |
1: 161,684,428 (GRCm39) |
K231E |
possibly damaging |
Het |
| Tll2 |
C |
A |
19: 41,087,088 (GRCm39) |
E588* |
probably null |
Het |
| Tmem215 |
A |
T |
4: 40,473,940 (GRCm39) |
I6L |
possibly damaging |
Het |
| Tnc |
A |
C |
4: 63,884,909 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
G |
A |
11: 94,105,052 (GRCm39) |
G196D |
probably benign |
Het |
| Ubtfl1 |
T |
A |
9: 18,320,849 (GRCm39) |
Y126N |
possibly damaging |
Het |
| Uck1 |
G |
T |
2: 32,148,149 (GRCm39) |
Q192K |
probably damaging |
Het |
| Vdac3-ps1 |
A |
G |
13: 18,205,469 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn1r88 |
C |
T |
7: 12,911,719 (GRCm39) |
S25L |
probably benign |
Het |
| Vmn2r109 |
T |
G |
17: 20,761,342 (GRCm39) |
I672L |
probably benign |
Het |
| Vmn2r23 |
T |
C |
6: 123,718,819 (GRCm39) |
F724S |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,366,088 (GRCm39) |
F282Y |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,215,057 (GRCm39) |
I347F |
probably benign |
Het |
| Wasf2 |
G |
A |
4: 132,923,112 (GRCm39) |
R474H |
probably damaging |
Het |
| Zmym5 |
T |
C |
14: 57,041,617 (GRCm39) |
H162R |
possibly damaging |
Het |
|
| Other mutations in Ccdc106 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1161: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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation