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 |
Incidental Mutation