Incidental Mutation 'IGL01362:Ccdc148'
| ID |
75780 |
| 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 # |
IGL01362
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
58711082-58991027 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58719811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 488
(V488A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077687]
[ENSMUST00000226455]
|
| AlphaFold |
Q6P5U8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077687
AA Change: V416A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000076871
Gene: ENSMUSG00000036641
AA Change: V416A
| 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 |
noncoding transcript
Transcript: ENSMUST00000134708
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226455
AA Change: V488A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
A |
8: 87,261,322 (GRCm39) |
D733V |
probably benign |
Het |
| Baz2a |
G |
A |
10: 127,957,833 (GRCm39) |
G1062D |
probably damaging |
Het |
| Bmp8a |
C |
A |
4: 123,207,094 (GRCm39) |
R389L |
probably damaging |
Het |
| Cdh24 |
T |
C |
14: 54,875,889 (GRCm39) |
I227V |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,069,161 (GRCm39) |
F2509L |
probably damaging |
Het |
| Dusp1 |
A |
G |
17: 26,725,618 (GRCm39) |
I247T |
probably benign |
Het |
| Erich6 |
G |
A |
3: 58,529,781 (GRCm39) |
|
probably null |
Het |
| Fam186b |
T |
C |
15: 99,178,199 (GRCm39) |
T376A |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,228,072 (GRCm39) |
E570G |
probably damaging |
Het |
| Gm5117 |
G |
T |
8: 32,227,947 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr37l1 |
A |
G |
1: 135,089,216 (GRCm39) |
V283A |
probably benign |
Het |
| Heatr5b |
A |
G |
17: 79,123,767 (GRCm39) |
|
probably benign |
Het |
| Ifit1bl2 |
G |
A |
19: 34,596,884 (GRCm39) |
T244I |
probably benign |
Het |
| Mcoln1 |
T |
C |
8: 3,557,558 (GRCm39) |
V188A |
possibly damaging |
Het |
| Mon1a |
T |
C |
9: 107,779,883 (GRCm39) |
L484P |
probably damaging |
Het |
| Mrgprg |
T |
A |
7: 143,318,806 (GRCm39) |
D102V |
probably damaging |
Het |
| Mto1 |
T |
A |
9: 78,360,056 (GRCm39) |
S181R |
probably benign |
Het |
| Myh11 |
C |
T |
16: 14,095,586 (GRCm39) |
V59I |
probably benign |
Het |
| Myo7a |
G |
A |
7: 97,746,909 (GRCm39) |
T163I |
probably damaging |
Het |
| Nr4a3 |
A |
C |
4: 48,051,586 (GRCm39) |
Q142H |
possibly damaging |
Het |
| Or14c41 |
A |
T |
7: 86,234,647 (GRCm39) |
T55S |
possibly damaging |
Het |
| Or2a14 |
A |
G |
6: 43,130,569 (GRCm39) |
E110G |
probably damaging |
Het |
| Or2y15 |
A |
G |
11: 49,351,270 (GRCm39) |
I255V |
probably benign |
Het |
| Or8b8 |
A |
G |
9: 37,809,359 (GRCm39) |
I220V |
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,748,595 (GRCm39) |
S1859P |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,396,378 (GRCm39) |
T1967A |
probably benign |
Het |
| Plppr3 |
C |
T |
10: 79,701,795 (GRCm39) |
R349Q |
probably damaging |
Het |
| Ppp2r5d |
A |
G |
17: 46,996,443 (GRCm39) |
|
probably null |
Het |
| Prl2c2 |
C |
T |
13: 13,176,828 (GRCm39) |
C33Y |
probably damaging |
Het |
| Prl3d2 |
T |
A |
13: 27,306,438 (GRCm39) |
L55* |
probably null |
Het |
| Ralgapb |
C |
T |
2: 158,277,385 (GRCm39) |
R250C |
probably damaging |
Het |
| Scamp3 |
C |
T |
3: 89,086,441 (GRCm39) |
P63S |
probably benign |
Het |
| Slc22a6 |
A |
G |
19: 8,598,572 (GRCm39) |
I210V |
possibly damaging |
Het |
| Stard13 |
T |
A |
5: 151,113,417 (GRCm39) |
H48L |
probably benign |
Het |
| Tm6sf2 |
G |
A |
8: 70,530,565 (GRCm39) |
R215H |
probably damaging |
Het |
| Twist2 |
T |
C |
1: 91,729,650 (GRCm39) |
L101P |
probably damaging |
Het |
| Uvrag |
A |
G |
7: 98,537,720 (GRCm39) |
S492P |
probably benign |
Het |
| Zan |
T |
C |
5: 137,450,712 (GRCm39) |
T1622A |
unknown |
Het |
| Zswim2 |
T |
A |
2: 83,745,690 (GRCm39) |
T583S |
probably benign |
Het |
|
| Other mutations in Ccdc148 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02056:Ccdc148
|
APN |
2 |
58,894,081 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-10-07 |
Incidental Mutation