Incidental Mutation 'IGL00341:Ccdc122'
| ID |
9430 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc122
|
| Ensembl Gene |
ENSMUSG00000034795 |
| Gene Name |
coiled-coil domain containing 122 |
| Synonyms |
4933415L06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00341
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
77274212-77349697 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 77329179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 77
(M77I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048208]
[ENSMUST00000095625]
[ENSMUST00000175810]
|
| AlphaFold |
Q8BVN0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048208
AA Change: M77I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000036369
Gene: ENSMUSG00000034795
AA Change: M77I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
33 |
102 |
N/A |
INTRINSIC |
|
coiled coil region
|
152 |
182 |
N/A |
INTRINSIC |
|
coiled coil region
|
209 |
279 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095625
|
| SMART Domains |
Protein: ENSMUSP00000093285
Gene: ENSMUSG00000034795
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
68 |
107 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175810
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef5 |
T |
A |
6: 43,257,203 (GRCm39) |
Y519* |
probably null |
Het |
| Bahcc1 |
A |
G |
11: 120,163,130 (GRCm39) |
Y476C |
probably damaging |
Het |
| Bclaf1 |
A |
T |
10: 20,201,745 (GRCm39) |
E295D |
probably damaging |
Het |
| Bend3 |
A |
G |
10: 43,387,539 (GRCm39) |
D644G |
probably damaging |
Het |
| Ccna1 |
A |
G |
3: 54,958,076 (GRCm39) |
V143A |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,162,480 (GRCm39) |
R30G |
probably benign |
Het |
| Hoxc4 |
A |
G |
15: 102,944,264 (GRCm39) |
D214G |
probably damaging |
Het |
| Itsn2 |
A |
T |
12: 4,708,027 (GRCm39) |
T778S |
possibly damaging |
Het |
| Kcnn2 |
A |
G |
18: 45,810,138 (GRCm39) |
|
probably benign |
Het |
| Krtap5-3 |
G |
T |
7: 141,755,612 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
G |
T |
10: 115,290,369 (GRCm39) |
Q516K |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,057,953 (GRCm39) |
K759R |
possibly damaging |
Het |
| Mtfr2 |
A |
G |
10: 20,233,394 (GRCm39) |
D321G |
probably damaging |
Het |
| Nip7 |
A |
G |
8: 107,783,802 (GRCm39) |
Y45C |
possibly damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,268 (GRCm39) |
I47V |
probably benign |
Het |
| Pak1ip1 |
A |
T |
13: 41,161,494 (GRCm39) |
T84S |
possibly damaging |
Het |
| Ptpn20 |
C |
A |
14: 33,344,576 (GRCm39) |
R167S |
probably benign |
Het |
| Rab4b |
C |
T |
7: 26,872,151 (GRCm39) |
G190S |
probably damaging |
Het |
| Ropn1l |
T |
A |
15: 31,443,495 (GRCm39) |
D179V |
probably damaging |
Het |
| Shc2 |
C |
T |
10: 79,456,903 (GRCm39) |
R571Q |
probably damaging |
Het |
| Smad1 |
A |
G |
8: 80,083,098 (GRCm39) |
V134A |
probably damaging |
Het |
| Smad6 |
A |
G |
9: 63,861,263 (GRCm39) |
V344A |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,193,846 (GRCm39) |
L196P |
possibly damaging |
Het |
| Tmem64 |
T |
A |
4: 15,266,694 (GRCm39) |
V248E |
probably damaging |
Het |
| Ttc7 |
C |
T |
17: 87,670,992 (GRCm39) |
T709I |
possibly damaging |
Het |
| Usp31 |
A |
G |
7: 121,305,893 (GRCm39) |
L195P |
probably damaging |
Het |
| Vmn2r112 |
G |
A |
17: 22,837,917 (GRCm39) |
V793I |
probably benign |
Het |
| Xpo5 |
T |
G |
17: 46,535,973 (GRCm39) |
L535R |
probably damaging |
Het |
| Ythdc2 |
A |
T |
18: 44,983,464 (GRCm39) |
M544L |
probably benign |
Het |
|
| Other mutations in Ccdc122 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01307:Ccdc122
|
APN |
14 |
77,329,516 (GRCm39) |
splice site |
probably benign |
|
|
IGL02585:Ccdc122
|
APN |
14 |
77,330,202 (GRCm39) |
splice site |
probably benign |
|
|
IGL03376:Ccdc122
|
APN |
14 |
77,306,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0724:Ccdc122
|
UTSW |
14 |
77,329,517 (GRCm39) |
splice site |
probably benign |
|
|
R0732:Ccdc122
|
UTSW |
14 |
77,329,199 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1123:Ccdc122
|
UTSW |
14 |
77,305,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1528:Ccdc122
|
UTSW |
14 |
77,305,379 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1860:Ccdc122
|
UTSW |
14 |
77,348,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Ccdc122
|
UTSW |
14 |
77,306,391 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2074:Ccdc122
|
UTSW |
14 |
77,306,391 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2075:Ccdc122
|
UTSW |
14 |
77,306,391 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2421:Ccdc122
|
UTSW |
14 |
77,329,103 (GRCm39) |
splice site |
probably benign |
|
|
R2442:Ccdc122
|
UTSW |
14 |
77,329,398 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4798:Ccdc122
|
UTSW |
14 |
77,349,047 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4973:Ccdc122
|
UTSW |
14 |
77,305,381 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5487:Ccdc122
|
UTSW |
14 |
77,329,119 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5576:Ccdc122
|
UTSW |
14 |
77,329,317 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5630:Ccdc122
|
UTSW |
14 |
77,330,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6502:Ccdc122
|
UTSW |
14 |
77,279,509 (GRCm39) |
splice site |
probably null |
|
|
R6833:Ccdc122
|
UTSW |
14 |
77,326,371 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R7585:Ccdc122
|
UTSW |
14 |
77,329,139 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7598:Ccdc122
|
UTSW |
14 |
77,349,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7774:Ccdc122
|
UTSW |
14 |
77,305,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8170:Ccdc122
|
UTSW |
14 |
77,329,318 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9515:Ccdc122
|
UTSW |
14 |
77,329,408 (GRCm39) |
missense |
|
|
|
R9546:Ccdc122
|
UTSW |
14 |
77,306,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation