Incidental Mutation 'R8860:Ccdc106'
| ID |
675602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc106
|
| Ensembl Gene |
ENSMUSG00000035228 |
| Gene Name |
coiled-coil domain containing 106 |
| Synonyms |
|
| MMRRC Submission |
068678-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R8860 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
5056847-5063784 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5062570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 192
(D192G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104211
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005041]
[ENSMUST00000045543]
[ENSMUST00000108571]
[ENSMUST00000207097]
[ENSMUST00000207215]
[ENSMUST00000207974]
[ENSMUST00000208042]
[ENSMUST00000208161]
[ENSMUST00000208728]
[ENSMUST00000209099]
|
| 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 benign
Transcript: ENSMUST00000045543
AA Change: D130G
PolyPhen 2
Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000041033
Gene: ENSMUSG00000035228
AA Change: D130G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
62 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108571
AA Change: D192G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000104211
Gene: ENSMUSG00000035228
AA Change: D192G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC106
|
117 |
337 |
1.4e-100 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207097
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207215
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207974
AA Change: D130G
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208042
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208161
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208728
AA Change: D21G
PolyPhen 2
Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209099
|
| Meta Mutation Damage Score |
0.0851 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
G |
12: 71,231,197 (GRCm39) |
V985G |
possibly damaging |
Het |
| Acr |
T |
G |
15: 89,458,057 (GRCm39) |
M246R |
probably damaging |
Het |
| Ago4 |
A |
T |
4: 126,387,043 (GRCm39) |
D853E |
probably benign |
Het |
| Atf6 |
A |
T |
1: 170,680,535 (GRCm39) |
F52L |
probably null |
Het |
| Blm |
A |
T |
7: 80,144,276 (GRCm39) |
C782S |
probably benign |
Het |
| C2cd5 |
A |
G |
6: 143,028,946 (GRCm39) |
Y98H |
probably benign |
Het |
| Celf2 |
A |
G |
2: 6,565,468 (GRCm39) |
|
probably null |
Het |
| Chd1l |
A |
G |
3: 97,477,685 (GRCm39) |
F690S |
probably benign |
Het |
| Chuk |
A |
G |
19: 44,076,407 (GRCm39) |
S435P |
possibly damaging |
Het |
| Cisd3 |
T |
A |
11: 97,576,703 (GRCm39) |
S10T |
probably benign |
Het |
| Cma2 |
G |
T |
14: 56,210,574 (GRCm39) |
C143F |
probably damaging |
Het |
| Cmtm1 |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
8: 105,036,334 (GRCm39) |
|
probably null |
Het |
| Cnppd1 |
A |
G |
1: 75,113,063 (GRCm39) |
S402P |
probably damaging |
Het |
| Crtc1 |
A |
G |
8: 70,840,805 (GRCm39) |
S474P |
probably damaging |
Het |
| Dhx38 |
A |
T |
8: 110,289,361 (GRCm39) |
L13* |
probably null |
Het |
| Fat4 |
A |
T |
3: 38,946,269 (GRCm39) |
T1721S |
probably benign |
Het |
| Fntb |
T |
A |
12: 76,934,826 (GRCm39) |
V201E |
possibly damaging |
Het |
| Gga3 |
T |
C |
11: 115,481,244 (GRCm39) |
D242G |
probably benign |
Het |
| Hif3a |
A |
T |
7: 16,774,912 (GRCm39) |
M562K |
probably benign |
Het |
| Hnrnpc |
A |
G |
14: 52,312,792 (GRCm39) |
S261P |
possibly damaging |
Het |
| Intu |
G |
A |
3: 40,627,162 (GRCm39) |
M314I |
probably benign |
Het |
| Lims1 |
C |
T |
10: 58,243,925 (GRCm39) |
Q126* |
probably null |
Het |
| Lrrc14b |
T |
A |
13: 74,509,408 (GRCm39) |
D333V |
probably damaging |
Het |
| Meaf6 |
T |
A |
4: 124,979,990 (GRCm39) |
L48Q |
probably damaging |
Het |
| Miip |
T |
A |
4: 147,950,839 (GRCm39) |
|
probably benign |
Het |
| Myh4 |
T |
A |
11: 67,132,335 (GRCm39) |
I155N |
probably damaging |
Het |
| Nnt |
T |
C |
13: 119,476,407 (GRCm39) |
Y733C |
|
Het |
| Nup155 |
T |
C |
15: 8,159,640 (GRCm39) |
V517A |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,898,440 (GRCm39) |
R6607Q |
unknown |
Het |
| Or2ak7 |
C |
T |
11: 58,574,966 (GRCm39) |
T89I |
probably benign |
Het |
| Or51s1 |
A |
G |
7: 102,558,336 (GRCm39) |
S237P |
probably benign |
Het |
| Ptprg |
T |
C |
14: 12,213,685 (GRCm38) |
Y1018H |
probably damaging |
Het |
| Rdh8 |
A |
C |
9: 20,734,021 (GRCm39) |
N69T |
probably benign |
Het |
| Rgsl1 |
G |
A |
1: 153,697,100 (GRCm39) |
Q572* |
probably null |
Het |
| Septin7 |
A |
T |
9: 25,163,980 (GRCm39) |
N16Y |
possibly damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,241,218 (GRCm39) |
N69D |
probably benign |
Het |
| Ssh3 |
A |
T |
19: 4,317,992 (GRCm39) |
V41E |
probably damaging |
Het |
| Tmem253 |
A |
G |
14: 52,256,303 (GRCm39) |
R168G |
probably benign |
Het |
| Vmn2r60 |
T |
A |
7: 41,791,654 (GRCm39) |
F526I |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,522,149 (GRCm39) |
|
probably benign |
Het |
| Vps4b |
A |
G |
1: 106,710,414 (GRCm39) |
F156L |
possibly damaging |
Het |
| Zfp354c |
T |
A |
11: 50,706,019 (GRCm39) |
H352L |
probably damaging |
Het |
| Zic2 |
A |
T |
14: 122,713,530 (GRCm39) |
H148L |
possibly 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 |
|
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 |
|
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 |
PCR Primer
(F):5'- AATGTCTCTACTTGGGGACTTCAC -3'
(R):5'- AGCTCACACTGCGATTCTGG -3'
Sequencing Primer
(F):5'- ACCCTGCCCTCATTCCGAG -3'
(R):5'- TGCGATTCTGGGTACACAAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation