Incidental Mutation 'IGL02524:Ccdc127'
ID |
296995 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc127
|
Ensembl Gene |
ENSMUSG00000021578 |
Gene Name |
coiled-coil domain containing 127 |
Synonyms |
5430420E17Rik, 0610011N22Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02524
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
74498436-74513902 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74501016 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 11
(N11S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022062]
[ENSMUST00000022063]
[ENSMUST00000159931]
[ENSMUST00000160021]
[ENSMUST00000162672]
[ENSMUST00000162376]
|
AlphaFold |
Q3TC33 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022062
|
SMART Domains |
Protein: ENSMUSP00000022062 Gene: ENSMUSG00000021577
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
21 |
N/A |
INTRINSIC |
Pfam:FAD_binding_2
|
63 |
457 |
1.2e-128 |
PFAM |
Pfam:Succ_DH_flav_C
|
512 |
664 |
3.4e-43 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022063
AA Change: N11S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022063 Gene: ENSMUSG00000021578 AA Change: N11S
Domain | Start | End | E-Value | Type |
coiled coil region
|
78 |
140 |
N/A |
INTRINSIC |
low complexity region
|
242 |
260 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159931
AA Change: N11S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124009 Gene: ENSMUSG00000021578 AA Change: N11S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
26 |
45 |
N/A |
INTRINSIC |
coiled coil region
|
78 |
140 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160021
AA Change: N11S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124193 Gene: ENSMUSG00000021578 AA Change: N11S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
26 |
45 |
N/A |
INTRINSIC |
coiled coil region
|
78 |
140 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160400
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160667
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161456
|
Predicted Effect |
unknown
Transcript: ENSMUST00000162672
AA Change: N11S
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162376
AA Change: N11S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123805 Gene: ENSMUSG00000021578 AA Change: N11S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
26 |
45 |
N/A |
INTRINSIC |
coiled coil region
|
78 |
140 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162137
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223491
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221594
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
Acvr1 |
T |
C |
2: 58,338,319 (GRCm39) |
|
probably benign |
Het |
Asap3 |
A |
T |
4: 135,965,927 (GRCm39) |
T453S |
probably damaging |
Het |
Ccdc110 |
C |
T |
8: 46,394,979 (GRCm39) |
P290L |
probably benign |
Het |
Cd80 |
T |
C |
16: 38,303,045 (GRCm39) |
V164A |
probably benign |
Het |
Ctnna3 |
T |
C |
10: 64,096,605 (GRCm39) |
I381T |
possibly damaging |
Het |
Epha7 |
A |
T |
4: 28,821,494 (GRCm39) |
T220S |
possibly damaging |
Het |
Etnppl |
A |
G |
3: 130,424,320 (GRCm39) |
|
probably benign |
Het |
Far2 |
T |
A |
6: 148,052,156 (GRCm39) |
L145Q |
probably damaging |
Het |
Fdxr |
A |
G |
11: 115,162,086 (GRCm39) |
|
probably null |
Het |
Jmy |
A |
G |
13: 93,609,268 (GRCm39) |
V347A |
probably damaging |
Het |
Kcns2 |
A |
G |
15: 34,838,981 (GRCm39) |
I115V |
probably benign |
Het |
Kif2a |
A |
G |
13: 107,100,863 (GRCm39) |
L627S |
possibly damaging |
Het |
Krtap26-1 |
A |
G |
16: 88,444,367 (GRCm39) |
S85P |
possibly damaging |
Het |
Ldlr |
C |
A |
9: 21,644,977 (GRCm39) |
D168E |
probably damaging |
Het |
Lrrc8e |
T |
G |
8: 4,285,392 (GRCm39) |
L539R |
probably damaging |
Het |
Mmp8 |
A |
G |
9: 7,560,506 (GRCm39) |
E61G |
probably damaging |
Het |
Msh2 |
T |
C |
17: 87,985,785 (GRCm39) |
F121L |
probably benign |
Het |
Myh4 |
A |
G |
11: 67,140,066 (GRCm39) |
K638E |
possibly damaging |
Het |
Ndufaf6 |
A |
G |
4: 11,059,091 (GRCm39) |
F246S |
probably benign |
Het |
Nynrin |
C |
T |
14: 56,108,931 (GRCm39) |
A1346V |
possibly damaging |
Het |
Or8k53 |
A |
C |
2: 86,177,686 (GRCm39) |
C141W |
probably damaging |
Het |
P2rx1 |
C |
T |
11: 72,900,474 (GRCm39) |
P196L |
probably damaging |
Het |
Pbx3 |
T |
C |
2: 34,260,830 (GRCm39) |
|
probably benign |
Het |
Psen2 |
A |
T |
1: 180,073,232 (GRCm39) |
S30T |
probably benign |
Het |
Rack1 |
T |
C |
11: 48,694,298 (GRCm39) |
V166A |
probably benign |
Het |
Rpgrip1 |
A |
G |
14: 52,358,511 (GRCm39) |
T206A |
probably benign |
Het |
Rrp7a |
A |
G |
15: 83,002,379 (GRCm39) |
|
probably benign |
Het |
Slco1b2 |
C |
T |
6: 141,616,798 (GRCm39) |
T377I |
probably benign |
Het |
Spmip11 |
G |
A |
15: 98,469,006 (GRCm39) |
|
probably null |
Het |
Sult2a6 |
A |
T |
7: 13,970,611 (GRCm39) |
S162T |
possibly damaging |
Het |
Syt2 |
A |
G |
1: 134,669,703 (GRCm39) |
K115E |
probably benign |
Het |
Tet1 |
A |
G |
10: 62,714,425 (GRCm39) |
S457P |
probably damaging |
Het |
Trbv3 |
A |
G |
6: 41,025,599 (GRCm39) |
E63G |
possibly damaging |
Het |
Unc13d |
T |
C |
11: 115,961,145 (GRCm39) |
Y404C |
probably damaging |
Het |
Usp32 |
G |
A |
11: 84,900,837 (GRCm39) |
R1128* |
probably null |
Het |
Vps4a |
G |
A |
8: 107,763,383 (GRCm39) |
|
probably benign |
Het |
Ythdc2 |
T |
A |
18: 44,980,921 (GRCm39) |
H505Q |
probably damaging |
Het |
Ywhab |
T |
A |
2: 163,858,057 (GRCm39) |
L208Q |
probably damaging |
Het |
Zfyve16 |
T |
C |
13: 92,641,022 (GRCm39) |
K1241E |
probably benign |
Het |
|
Other mutations in Ccdc127 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02715:Ccdc127
|
APN |
13 |
74,504,893 (GRCm39) |
missense |
probably benign |
0.00 |
R0295:Ccdc127
|
UTSW |
13 |
74,504,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R1428:Ccdc127
|
UTSW |
13 |
74,505,034 (GRCm39) |
missense |
probably benign |
0.37 |
R1861:Ccdc127
|
UTSW |
13 |
74,505,098 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4671:Ccdc127
|
UTSW |
13 |
74,505,164 (GRCm39) |
nonsense |
probably null |
|
R4738:Ccdc127
|
UTSW |
13 |
74,505,187 (GRCm39) |
intron |
probably benign |
|
R5719:Ccdc127
|
UTSW |
13 |
74,505,187 (GRCm39) |
intron |
probably benign |
|
R6210:Ccdc127
|
UTSW |
13 |
74,505,040 (GRCm39) |
missense |
probably benign |
0.00 |
R6742:Ccdc127
|
UTSW |
13 |
74,501,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R6842:Ccdc127
|
UTSW |
13 |
74,505,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R7046:Ccdc127
|
UTSW |
13 |
74,500,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R7161:Ccdc127
|
UTSW |
13 |
74,500,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R7912:Ccdc127
|
UTSW |
13 |
74,505,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R8230:Ccdc127
|
UTSW |
13 |
74,508,751 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2015-04-16 |