Incidental Mutation 'R5596:Ccdc149'
| ID |
437826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc149
|
| Ensembl Gene |
ENSMUSG00000045790 |
| Gene Name |
coiled-coil domain containing 149 |
| Synonyms |
Gm447, LOC242997 |
| MMRRC Submission |
043148-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R5596 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
52531993-52628863 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52561493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 229
(V229A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059428]
[ENSMUST00000198008]
|
| AlphaFold |
F6V035 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059428
AA Change: V229A
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000062411
Gene: ENSMUSG00000045790
AA Change: V229A
| 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 benign
Transcript: ENSMUST00000198008
|
| SMART Domains |
Protein: ENSMUSP00000143041
Gene: ENSMUSG00000045790
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2353
|
21 |
138 |
1.5e-28 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000213027
AA Change: V42A
|
| Meta Mutation Damage Score |
0.0966 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.9%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 120,000,972 (GRCm39) |
M1503V |
possibly damaging |
Het |
| Abraxas1 |
A |
T |
5: 100,966,403 (GRCm39) |
V53D |
probably damaging |
Het |
| Bub1b |
T |
C |
2: 118,461,463 (GRCm39) |
S672P |
probably damaging |
Het |
| C1qtnf7 |
A |
T |
5: 43,673,313 (GRCm39) |
|
probably benign |
Het |
| Cacng7 |
A |
T |
7: 3,415,420 (GRCm39) |
I262F |
probably benign |
Het |
| Capzb |
T |
G |
4: 139,006,738 (GRCm39) |
|
probably benign |
Het |
| Cfap69 |
A |
G |
5: 5,676,020 (GRCm39) |
L225P |
probably damaging |
Het |
| Cftr |
A |
G |
6: 18,268,095 (GRCm39) |
T685A |
probably benign |
Het |
| Col12a1 |
G |
A |
9: 79,611,041 (GRCm39) |
T177M |
probably damaging |
Het |
| Creb3l3 |
T |
G |
10: 80,920,881 (GRCm39) |
D383A |
probably benign |
Het |
| Cyp2j8 |
T |
A |
4: 96,395,578 (GRCm39) |
I16F |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,343,754 (GRCm39) |
A2385S |
probably damaging |
Het |
| Enox1 |
A |
G |
14: 77,816,493 (GRCm39) |
I158V |
probably benign |
Het |
| Erich3 |
A |
T |
3: 154,433,033 (GRCm39) |
T139S |
probably damaging |
Het |
| Fam186b |
A |
T |
15: 99,169,170 (GRCm39) |
S926T |
possibly damaging |
Het |
| Gjd2 |
C |
A |
2: 113,841,965 (GRCm39) |
V171F |
possibly damaging |
Het |
| Helz2 |
A |
T |
2: 180,879,082 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
TTN |
9: 66,341,345 (GRCm39) |
|
probably benign |
Het |
| Impg1 |
A |
T |
9: 80,252,500 (GRCm39) |
V483E |
probably benign |
Het |
| Irx4 |
A |
G |
13: 73,415,799 (GRCm39) |
N196S |
probably damaging |
Het |
| Kcnip1 |
T |
C |
11: 33,580,597 (GRCm39) |
D213G |
probably damaging |
Het |
| Lmntd1 |
T |
A |
6: 145,359,140 (GRCm39) |
T191S |
probably benign |
Het |
| Med12l |
T |
A |
3: 59,159,771 (GRCm39) |
N1273K |
probably benign |
Het |
| Musk |
T |
C |
4: 58,373,036 (GRCm39) |
C654R |
probably damaging |
Het |
| Nlrp4d |
A |
T |
7: 10,115,951 (GRCm39) |
S274T |
noncoding transcript |
Het |
| Omd |
A |
G |
13: 49,745,814 (GRCm39) |
H408R |
probably benign |
Het |
| Pbld2 |
C |
T |
10: 62,907,791 (GRCm39) |
A219V |
probably damaging |
Het |
| Pramel22 |
T |
A |
4: 143,381,025 (GRCm39) |
T333S |
probably damaging |
Het |
| Pramel32 |
C |
T |
4: 88,548,292 (GRCm39) |
E38K |
probably damaging |
Het |
| Ptpn1 |
T |
C |
2: 167,816,683 (GRCm39) |
I246T |
probably damaging |
Het |
| Sap18b |
G |
T |
8: 96,551,998 (GRCm39) |
A3S |
unknown |
Het |
| Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
| Sstr4 |
G |
T |
2: 148,237,652 (GRCm39) |
V88F |
possibly damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Tmcc2 |
T |
C |
1: 132,288,221 (GRCm39) |
N489D |
probably damaging |
Het |
| Tnfrsf9 |
T |
C |
4: 151,014,331 (GRCm39) |
V10A |
probably benign |
Het |
| Tnxb |
T |
A |
17: 34,907,778 (GRCm39) |
V1274E |
probably damaging |
Het |
| Ube3b |
T |
A |
5: 114,544,221 (GRCm39) |
|
probably null |
Het |
| Vwa5a |
A |
T |
9: 38,633,874 (GRCm39) |
I26F |
probably damaging |
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 |
|
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 |
|
R6963:Ccdc149
|
UTSW |
5 |
52,596,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCCTGGCTACTCCAATTAGGG -3'
(R):5'- GCATGTCTGACCTTGATCACATC -3'
Sequencing Primer
(F):5'- CTCCAATTAGGGGTCCTATTGG -3'
(R):5'- AAAAGGTCACATTTTCCTGCC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation