Incidental Mutation 'IGL02056:Ccdc148'
| ID |
185245 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc148
|
| Ensembl Gene |
ENSMUSG00000036641 |
| Gene Name |
coiled-coil domain containing 148 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
IGL02056
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
58711082-58991027 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 58894081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077687]
[ENSMUST00000226455]
|
| AlphaFold |
Q6P5U8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077687
|
| SMART Domains |
Protein: ENSMUSP00000076871
Gene: ENSMUSG00000036641
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
173 |
195 |
N/A |
INTRINSIC |
|
coiled coil region
|
289 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
382 |
N/A |
INTRINSIC |
|
coiled coil region
|
401 |
438 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226455
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg101 |
T |
C |
15: 101,188,218 (GRCm39) |
S108P |
probably damaging |
Het |
| BB014433 |
A |
T |
8: 15,092,435 (GRCm39) |
C139* |
probably null |
Het |
| Cacna1s |
A |
G |
1: 136,046,738 (GRCm39) |
N1808S |
probably benign |
Het |
| Dnah7a |
T |
G |
1: 53,543,501 (GRCm39) |
N2223T |
probably benign |
Het |
| Fgl2 |
T |
A |
5: 21,580,543 (GRCm39) |
I295K |
probably damaging |
Het |
| Foxj3 |
T |
C |
4: 119,442,954 (GRCm39) |
I126T |
probably damaging |
Het |
| Gm4540 |
T |
A |
3: 105,942,056 (GRCm39) |
|
probably benign |
Het |
| Hps5 |
T |
G |
7: 46,437,606 (GRCm39) |
K156N |
probably damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,660,449 (GRCm39) |
|
probably benign |
Het |
| Il12rb1 |
C |
T |
8: 71,263,831 (GRCm39) |
R131* |
probably null |
Het |
| Itgb2l |
T |
C |
16: 96,228,889 (GRCm39) |
E438G |
probably damaging |
Het |
| Kplce |
T |
A |
3: 92,776,200 (GRCm39) |
Q161L |
probably benign |
Het |
| Nbeal2 |
A |
T |
9: 110,456,392 (GRCm39) |
L2379Q |
probably benign |
Het |
| Neurl4 |
T |
C |
11: 69,796,616 (GRCm39) |
V481A |
probably damaging |
Het |
| Nos1ap |
A |
G |
1: 170,146,192 (GRCm39) |
F454S |
possibly damaging |
Het |
| Pik3r5 |
G |
T |
11: 68,381,681 (GRCm39) |
G242C |
possibly damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,358,010 (GRCm39) |
N834S |
probably benign |
Het |
| Prkar2b |
A |
G |
12: 32,025,909 (GRCm39) |
|
probably benign |
Het |
| Pusl1 |
T |
C |
4: 155,975,029 (GRCm39) |
T191A |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,126,831 (GRCm39) |
V51A |
probably damaging |
Het |
| Rsc1a1 |
T |
A |
4: 141,412,796 (GRCm39) |
I39F |
probably benign |
Het |
| Slc2a3 |
G |
A |
6: 122,712,437 (GRCm39) |
P269L |
probably damaging |
Het |
| Sntb1 |
C |
T |
15: 55,511,435 (GRCm39) |
G383D |
possibly damaging |
Het |
| Washc5 |
T |
C |
15: 59,222,185 (GRCm39) |
T547A |
possibly damaging |
Het |
| Zfr |
T |
C |
15: 12,154,533 (GRCm39) |
V572A |
probably damaging |
Het |
| Zmym6 |
T |
A |
4: 126,997,207 (GRCm39) |
N275K |
probably damaging |
Het |
|
| Other mutations in Ccdc148 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01362:Ccdc148
|
APN |
2 |
58,719,811 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02470:Ccdc148
|
APN |
2 |
58,891,911 (GRCm39) |
missense |
probably damaging |
0.96 |
|
PIT4585001:Ccdc148
|
UTSW |
2 |
58,872,988 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0068:Ccdc148
|
UTSW |
2 |
58,717,629 (GRCm39) |
missense |
probably benign |
|
|
R0068:Ccdc148
|
UTSW |
2 |
58,717,629 (GRCm39) |
missense |
probably benign |
|
|
R0348:Ccdc148
|
UTSW |
2 |
58,894,084 (GRCm39) |
splice site |
probably null |
|
|
R1464:Ccdc148
|
UTSW |
2 |
58,824,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Ccdc148
|
UTSW |
2 |
58,824,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Ccdc148
|
UTSW |
2 |
58,796,374 (GRCm39) |
nonsense |
probably null |
|
|
R1464:Ccdc148
|
UTSW |
2 |
58,796,374 (GRCm39) |
nonsense |
probably null |
|
|
R1675:Ccdc148
|
UTSW |
2 |
58,870,566 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1677:Ccdc148
|
UTSW |
2 |
58,892,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1832:Ccdc148
|
UTSW |
2 |
58,891,911 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1918:Ccdc148
|
UTSW |
2 |
58,872,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2114:Ccdc148
|
UTSW |
2 |
58,892,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2115:Ccdc148
|
UTSW |
2 |
58,892,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4657:Ccdc148
|
UTSW |
2 |
58,891,900 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4921:Ccdc148
|
UTSW |
2 |
58,719,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5022:Ccdc148
|
UTSW |
2 |
58,717,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5809:Ccdc148
|
UTSW |
2 |
58,713,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6164:Ccdc148
|
UTSW |
2 |
58,713,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6952:Ccdc148
|
UTSW |
2 |
58,713,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6987:Ccdc148
|
UTSW |
2 |
58,872,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7121:Ccdc148
|
UTSW |
2 |
58,717,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7452:Ccdc148
|
UTSW |
2 |
58,717,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7493:Ccdc148
|
UTSW |
2 |
58,899,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7574:Ccdc148
|
UTSW |
2 |
58,713,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7666:Ccdc148
|
UTSW |
2 |
58,824,512 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7763:Ccdc148
|
UTSW |
2 |
58,713,648 (GRCm39) |
missense |
probably benign |
|
|
R8045:Ccdc148
|
UTSW |
2 |
58,892,083 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8865:Ccdc148
|
UTSW |
2 |
58,719,832 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8932:Ccdc148
|
UTSW |
2 |
58,894,054 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9597:Ccdc148
|
UTSW |
2 |
58,893,397 (GRCm39) |
missense |
probably benign |
0.08 |
|
X0062:Ccdc148
|
UTSW |
2 |
58,893,460 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2014-05-07 |
Incidental Mutation