Incidental Mutation 'R6963:Ccdc149'
| ID |
543321 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc149
|
| Ensembl Gene |
ENSMUSG00000045790 |
| Gene Name |
coiled-coil domain containing 149 |
| Synonyms |
Gm447, LOC242997 |
| MMRRC Submission |
045073-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R6963 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
52531993-52628863 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 52596439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 58
(R58W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059428]
[ENSMUST00000198008]
|
| AlphaFold |
F6V035 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059428
AA Change: R58W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062411
Gene: ENSMUSG00000045790
AA Change: R58W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2353
|
21 |
333 |
3.5e-117 |
PFAM |
|
low complexity region
|
388 |
404 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198008
AA Change: R58W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143041
Gene: ENSMUSG00000045790
AA Change: R58W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2353
|
21 |
138 |
1.5e-28 |
PFAM |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,044,303 (GRCm39) |
H196Y |
probably damaging |
Het |
| Abi3 |
G |
A |
11: 95,723,567 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
CG |
C |
4: 129,908,155 (GRCm39) |
|
probably null |
Het |
| Asgr1 |
T |
C |
11: 69,946,794 (GRCm39) |
|
probably null |
Het |
| Atp2c2 |
C |
T |
8: 120,457,006 (GRCm39) |
R203* |
probably null |
Het |
| Brms1 |
T |
A |
19: 5,096,681 (GRCm39) |
I121N |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,042,228 (GRCm39) |
E906G |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,381,309 (GRCm39) |
T444A |
probably benign |
Het |
| Ggn |
A |
G |
7: 28,871,007 (GRCm39) |
E142G |
probably damaging |
Het |
| Gm5150 |
A |
G |
3: 16,060,555 (GRCm39) |
|
probably benign |
Het |
| Gm57858 |
A |
G |
3: 36,104,811 (GRCm39) |
Y17H |
probably benign |
Het |
| Gp2 |
A |
G |
7: 119,052,120 (GRCm39) |
V198A |
probably benign |
Het |
| Gstm3 |
A |
G |
3: 107,874,940 (GRCm39) |
V104A |
probably benign |
Het |
| Idua |
A |
G |
5: 108,827,641 (GRCm39) |
K152E |
possibly damaging |
Het |
| Igsf21 |
A |
G |
4: 139,755,041 (GRCm39) |
S443P |
probably benign |
Het |
| Kdm5d |
C |
A |
Y: 937,975 (GRCm39) |
Q925K |
probably benign |
Het |
| Ly6k |
G |
C |
15: 74,670,431 (GRCm39) |
P37R |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,424,713 (GRCm39) |
S626P |
probably damaging |
Het |
| Mcoln2 |
A |
G |
3: 145,877,790 (GRCm39) |
K137R |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,877,804 (GRCm39) |
N298S |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,734,149 (GRCm39) |
I379T |
probably benign |
Het |
| Myo15b |
G |
T |
11: 115,781,540 (GRCm39) |
|
probably null |
Het |
| Nrg1 |
A |
G |
8: 32,407,690 (GRCm39) |
F181S |
probably benign |
Het |
| Or5b24 |
C |
T |
19: 12,913,002 (GRCm39) |
A300V |
probably damaging |
Het |
| Pals2 |
T |
C |
6: 50,140,635 (GRCm39) |
|
probably null |
Het |
| Pde9a |
G |
T |
17: 31,662,861 (GRCm39) |
V97L |
probably benign |
Het |
| Rfc5 |
T |
A |
5: 117,525,931 (GRCm39) |
|
probably null |
Het |
| Rnf145 |
T |
C |
11: 44,455,104 (GRCm39) |
S662P |
probably benign |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Scfd2 |
A |
G |
5: 74,642,870 (GRCm39) |
V359A |
probably damaging |
Het |
| Skp2 |
T |
C |
15: 9,139,515 (GRCm39) |
|
probably null |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,218,110 (GRCm39) |
E134G |
probably damaging |
Het |
| Ttll4 |
T |
A |
1: 74,720,975 (GRCm39) |
I547K |
probably damaging |
Het |
| Vmn1r4 |
T |
C |
6: 56,933,769 (GRCm39) |
I91T |
probably damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,536,849 (GRCm39) |
S511P |
probably damaging |
Het |
| Vps50 |
T |
C |
6: 3,592,577 (GRCm39) |
|
probably null |
Het |
| Zeb2 |
T |
G |
2: 44,878,811 (GRCm39) |
E1141A |
probably damaging |
Het |
| Zfp1002 |
A |
G |
2: 150,097,265 (GRCm39) |
C55R |
probably damaging |
Het |
| Zfp326 |
T |
A |
5: 106,059,359 (GRCm39) |
Y373* |
probably null |
Het |
|
| Other mutations in Ccdc149 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00549:Ccdc149
|
APN |
5 |
52,533,664 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02002:Ccdc149
|
APN |
5 |
52,563,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
pequeno
|
UTSW |
5 |
52,562,475 (GRCm39) |
nonsense |
probably null |
|
|
R0226:Ccdc149
|
UTSW |
5 |
52,557,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0420:Ccdc149
|
UTSW |
5 |
52,557,581 (GRCm39) |
splice site |
probably benign |
|
|
R0959:Ccdc149
|
UTSW |
5 |
52,542,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2075:Ccdc149
|
UTSW |
5 |
52,596,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2355:Ccdc149
|
UTSW |
5 |
52,578,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4755:Ccdc149
|
UTSW |
5 |
52,561,493 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5596:Ccdc149
|
UTSW |
5 |
52,561,493 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5955:Ccdc149
|
UTSW |
5 |
52,533,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5993:Ccdc149
|
UTSW |
5 |
52,560,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6351:Ccdc149
|
UTSW |
5 |
52,542,477 (GRCm39) |
missense |
probably benign |
|
|
R6742:Ccdc149
|
UTSW |
5 |
52,562,475 (GRCm39) |
nonsense |
probably null |
|
|
R6939:Ccdc149
|
UTSW |
5 |
52,533,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7379:Ccdc149
|
UTSW |
5 |
52,562,408 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7715:Ccdc149
|
UTSW |
5 |
52,561,533 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7920:Ccdc149
|
UTSW |
5 |
52,562,436 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8154:Ccdc149
|
UTSW |
5 |
52,542,446 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8489:Ccdc149
|
UTSW |
5 |
52,533,999 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8791:Ccdc149
|
UTSW |
5 |
52,596,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9091:Ccdc149
|
UTSW |
5 |
52,563,352 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9270:Ccdc149
|
UTSW |
5 |
52,563,352 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9332:Ccdc149
|
UTSW |
5 |
52,562,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9334:Ccdc149
|
UTSW |
5 |
52,578,171 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9501:Ccdc149
|
UTSW |
5 |
52,542,477 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Ccdc149
|
UTSW |
5 |
52,578,155 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGAAGTACGTACATGCAG -3'
(R):5'- AGAAGCCCGCCTGTCATTTC -3'
Sequencing Primer
(F):5'- GAAGGCCTTGAAGTCCTGATC -3'
(R):5'- CTAACCAGTGGCCATTTGTTCTGTAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation