Incidental Mutation 'IGL02673:Gm57858'
ID |
303027 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm57858
|
Ensembl Gene |
ENSMUSG00000047696 |
Gene Name |
gene model 57858 |
Synonyms |
Ccdc144b |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
IGL02673
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
36061396-36107696 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to C
at 36100848 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166644]
[ENSMUST00000196964]
[ENSMUST00000200469]
|
AlphaFold |
E9PVZ3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000166644
|
SMART Domains |
Protein: ENSMUSP00000132995 Gene: ENSMUSG00000047696
Domain | Start | End | E-Value | Type |
coiled coil region
|
65 |
97 |
N/A |
INTRINSIC |
coiled coil region
|
121 |
166 |
N/A |
INTRINSIC |
coiled coil region
|
231 |
327 |
N/A |
INTRINSIC |
Pfam:DUF3496
|
381 |
488 |
1.6e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196964
|
SMART Domains |
Protein: ENSMUSP00000142406 Gene: ENSMUSG00000047696
Domain | Start | End | E-Value | Type |
coiled coil region
|
65 |
97 |
N/A |
INTRINSIC |
coiled coil region
|
121 |
166 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200469
|
SMART Domains |
Protein: ENSMUSP00000142910 Gene: ENSMUSG00000047696
Domain | Start | End | E-Value | Type |
coiled coil region
|
65 |
97 |
N/A |
INTRINSIC |
coiled coil region
|
121 |
166 |
N/A |
INTRINSIC |
coiled coil region
|
231 |
327 |
N/A |
INTRINSIC |
Pfam:DUF3496
|
381 |
488 |
1.6e-45 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930012K11Rik |
T |
A |
14: 70,395,056 (GRCm39) |
T33S |
probably benign |
Het |
Abca4 |
T |
C |
3: 121,897,150 (GRCm39) |
Y610H |
probably damaging |
Het |
Agl |
A |
T |
3: 116,575,248 (GRCm39) |
C630S |
probably benign |
Het |
Alkbh6 |
G |
T |
7: 30,013,536 (GRCm39) |
G202C |
probably damaging |
Het |
Ascc3 |
A |
T |
10: 50,536,769 (GRCm39) |
M701L |
probably benign |
Het |
Bpgm |
T |
A |
6: 34,464,769 (GRCm39) |
L162Q |
probably damaging |
Het |
Ccdc150 |
A |
G |
1: 54,368,149 (GRCm39) |
T592A |
probably benign |
Het |
Chpf2 |
G |
A |
5: 24,796,302 (GRCm39) |
R416Q |
probably benign |
Het |
Col14a1 |
G |
A |
15: 55,282,178 (GRCm39) |
G813E |
unknown |
Het |
Col18a1 |
C |
T |
10: 76,894,997 (GRCm39) |
G983D |
probably damaging |
Het |
Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
Cyp2a22 |
T |
G |
7: 26,637,525 (GRCm39) |
K157Q |
probably benign |
Het |
Dhx57 |
A |
G |
17: 80,574,974 (GRCm39) |
V668A |
probably damaging |
Het |
Eps8l1 |
T |
A |
7: 4,481,731 (GRCm39) |
V743E |
probably damaging |
Het |
Fnbp4 |
C |
T |
2: 90,593,816 (GRCm39) |
T557M |
probably benign |
Het |
Fzd5 |
C |
T |
1: 64,774,265 (GRCm39) |
E499K |
possibly damaging |
Het |
Il1r2 |
A |
G |
1: 40,154,323 (GRCm39) |
Y230C |
probably damaging |
Het |
Insrr |
A |
C |
3: 87,720,368 (GRCm39) |
E1002A |
possibly damaging |
Het |
Kdm4a |
C |
T |
4: 118,025,769 (GRCm39) |
D146N |
probably benign |
Het |
Kidins220 |
G |
A |
12: 25,044,991 (GRCm39) |
V262M |
probably damaging |
Het |
Kif26b |
C |
T |
1: 178,649,170 (GRCm39) |
P430L |
probably damaging |
Het |
Mamdc4 |
T |
C |
2: 25,460,066 (GRCm39) |
S62G |
probably benign |
Het |
Mcu |
C |
A |
10: 59,303,466 (GRCm39) |
V124F |
probably damaging |
Het |
Mlf1 |
A |
G |
3: 67,301,280 (GRCm39) |
M98V |
probably benign |
Het |
Mogs |
T |
C |
6: 83,095,199 (GRCm39) |
V672A |
probably damaging |
Het |
Ntrk3 |
T |
C |
7: 77,900,512 (GRCm39) |
D609G |
probably damaging |
Het |
Or1n1 |
C |
T |
2: 36,750,188 (GRCm39) |
M57I |
probably benign |
Het |
Pdlim5 |
T |
A |
3: 142,058,548 (GRCm39) |
E65D |
probably damaging |
Het |
Peg3 |
T |
C |
7: 6,713,413 (GRCm39) |
N603S |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,790,257 (GRCm39) |
Y980C |
probably benign |
Het |
Rack1 |
A |
G |
11: 48,691,357 (GRCm39) |
T23A |
probably benign |
Het |
Rad50 |
A |
T |
11: 53,579,067 (GRCm39) |
I497K |
probably benign |
Het |
Sin3a |
C |
A |
9: 57,014,725 (GRCm39) |
Q649K |
probably damaging |
Het |
Sirt6 |
A |
G |
10: 81,461,671 (GRCm39) |
F46L |
probably damaging |
Het |
Slc40a1 |
A |
T |
1: 45,957,576 (GRCm39) |
I136N |
possibly damaging |
Het |
Sspo |
G |
A |
6: 48,452,794 (GRCm39) |
R2834H |
probably damaging |
Het |
Sspo |
G |
T |
6: 48,475,709 (GRCm39) |
|
probably null |
Het |
Sycp2 |
T |
A |
2: 178,036,004 (GRCm39) |
T228S |
possibly damaging |
Het |
Uhrf2 |
T |
A |
19: 30,070,207 (GRCm39) |
N785K |
probably damaging |
Het |
Vmn2r58 |
T |
A |
7: 41,514,082 (GRCm39) |
Y187F |
possibly damaging |
Het |
Vmn2r80 |
A |
G |
10: 79,005,318 (GRCm39) |
I318M |
probably benign |
Het |
Vps13c |
T |
C |
9: 67,785,380 (GRCm39) |
L249P |
probably damaging |
Het |
Zw10 |
T |
A |
9: 48,988,893 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Gm57858 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00570:Gm57858
|
APN |
3 |
36,074,138 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00773:Gm57858
|
APN |
3 |
36,089,486 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01409:Gm57858
|
APN |
3 |
36,080,077 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL01791:Gm57858
|
APN |
3 |
36,089,416 (GRCm39) |
critical splice donor site |
probably benign |
0.00 |
IGL02307:Gm57858
|
APN |
3 |
36,073,016 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02374:Gm57858
|
APN |
3 |
36,074,108 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02727:Gm57858
|
APN |
3 |
36,087,065 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0355:Gm57858
|
UTSW |
3 |
36,101,054 (GRCm39) |
splice site |
probably benign |
|
R0833:Gm57858
|
UTSW |
3 |
36,074,362 (GRCm39) |
splice site |
probably benign |
|
R0928:Gm57858
|
UTSW |
3 |
36,079,515 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1595:Gm57858
|
UTSW |
3 |
36,073,146 (GRCm39) |
missense |
probably damaging |
0.99 |
R1598:Gm57858
|
UTSW |
3 |
36,073,146 (GRCm39) |
missense |
probably damaging |
0.99 |
R2011:Gm57858
|
UTSW |
3 |
36,064,827 (GRCm39) |
nonsense |
probably null |
|
R2255:Gm57858
|
UTSW |
3 |
36,074,099 (GRCm39) |
missense |
probably benign |
0.00 |
R2921:Gm57858
|
UTSW |
3 |
36,080,077 (GRCm39) |
missense |
probably null |
0.01 |
R4659:Gm57858
|
UTSW |
3 |
36,080,103 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4764:Gm57858
|
UTSW |
3 |
36,064,809 (GRCm39) |
makesense |
probably null |
|
R4929:Gm57858
|
UTSW |
3 |
36,089,487 (GRCm39) |
missense |
probably damaging |
0.99 |
R5631:Gm57858
|
UTSW |
3 |
36,101,026 (GRCm39) |
missense |
probably damaging |
0.99 |
R5755:Gm57858
|
UTSW |
3 |
36,071,842 (GRCm39) |
missense |
probably benign |
|
R5849:Gm57858
|
UTSW |
3 |
36,087,026 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5894:Gm57858
|
UTSW |
3 |
36,074,124 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5968:Gm57858
|
UTSW |
3 |
36,064,840 (GRCm39) |
missense |
probably benign |
0.00 |
R6961:Gm57858
|
UTSW |
3 |
36,104,766 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6963:Gm57858
|
UTSW |
3 |
36,104,811 (GRCm39) |
missense |
probably benign |
0.30 |
R7248:Gm57858
|
UTSW |
3 |
36,080,086 (GRCm39) |
missense |
probably benign |
0.00 |
R7380:Gm57858
|
UTSW |
3 |
36,080,070 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7462:Gm57858
|
UTSW |
3 |
36,080,055 (GRCm39) |
splice site |
probably null |
|
R7612:Gm57858
|
UTSW |
3 |
36,079,506 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7637:Gm57858
|
UTSW |
3 |
36,101,025 (GRCm39) |
missense |
probably damaging |
0.98 |
R8025:Gm57858
|
UTSW |
3 |
36,073,136 (GRCm39) |
missense |
probably damaging |
0.97 |
R8269:Gm57858
|
UTSW |
3 |
36,100,862 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8707:Gm57858
|
UTSW |
3 |
36,073,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R8731:Gm57858
|
UTSW |
3 |
36,089,434 (GRCm39) |
missense |
probably benign |
0.14 |
R9047:Gm57858
|
UTSW |
3 |
36,087,033 (GRCm39) |
missense |
probably benign |
0.32 |
R9108:Gm57858
|
UTSW |
3 |
36,080,036 (GRCm39) |
makesense |
probably null |
|
R9193:Gm57858
|
UTSW |
3 |
36,089,428 (GRCm39) |
missense |
probably benign |
0.14 |
R9321:Gm57858
|
UTSW |
3 |
36,073,139 (GRCm39) |
missense |
probably damaging |
0.98 |
R9447:Gm57858
|
UTSW |
3 |
36,074,195 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9694:Gm57858
|
UTSW |
3 |
36,073,092 (GRCm39) |
missense |
possibly damaging |
0.66 |
X0011:Gm57858
|
UTSW |
3 |
36,080,097 (GRCm39) |
missense |
possibly damaging |
0.66 |
X0057:Gm57858
|
UTSW |
3 |
36,073,050 (GRCm39) |
nonsense |
probably null |
|
Z1176:Gm57858
|
UTSW |
3 |
36,073,037 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Posted On |
2015-04-16 |