Incidental Mutation 'IGL00570:Gm57858'
ID |
6913 |
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: 0.069)
|
Stock # |
IGL00570
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
36061396-36107696 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36074138 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 337
(Y337F)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166644]
[ENSMUST00000196964]
[ENSMUST00000200469]
|
AlphaFold |
E9PVZ3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062056
AA Change: Y337F
PolyPhen 2
Score 1.000 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000058450 Gene: ENSMUSG00000047696 AA Change: Y337F
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
|
382 |
485 |
4.1e-41 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124469
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166644
AA Change: Y337F
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000132995 Gene: ENSMUSG00000047696 AA Change: Y337F
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 |
possibly damaging
Transcript: ENSMUST00000200469
AA Change: Y337F
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142910 Gene: ENSMUSG00000047696 AA Change: Y337F
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
G |
5: 9,000,073 (GRCm39) |
I1014V |
probably benign |
Het |
Adam10 |
A |
G |
9: 70,626,028 (GRCm39) |
T99A |
possibly damaging |
Het |
Adam11 |
A |
T |
11: 102,667,176 (GRCm39) |
I610F |
possibly damaging |
Het |
Bcl2 |
T |
C |
1: 106,640,088 (GRCm39) |
T175A |
possibly damaging |
Het |
Col25a1 |
C |
T |
3: 130,340,081 (GRCm39) |
|
probably benign |
Het |
Dlat |
A |
T |
9: 50,556,332 (GRCm39) |
|
probably benign |
Het |
Enah |
T |
C |
1: 181,763,261 (GRCm39) |
|
probably benign |
Het |
Gm29253 |
T |
C |
1: 75,151,118 (GRCm39) |
|
probably benign |
Het |
Gsto1 |
T |
C |
19: 47,846,375 (GRCm39) |
V74A |
probably benign |
Het |
Haus6 |
A |
T |
4: 86,526,218 (GRCm39) |
F46L |
probably benign |
Het |
Hdac3 |
G |
A |
18: 38,077,174 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,735,719 (GRCm39) |
S3462G |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,309,830 (GRCm39) |
Y207C |
possibly damaging |
Het |
Nat10 |
T |
A |
2: 103,556,109 (GRCm39) |
|
probably null |
Het |
Nphp1 |
A |
C |
2: 127,605,805 (GRCm39) |
V340G |
probably damaging |
Het |
Nrap |
C |
T |
19: 56,326,545 (GRCm39) |
G1170E |
probably benign |
Het |
Plcg1 |
T |
A |
2: 160,599,186 (GRCm39) |
V878E |
probably damaging |
Het |
Pld4 |
T |
C |
12: 112,729,925 (GRCm39) |
F69S |
probably benign |
Het |
Scn9a |
A |
G |
2: 66,314,486 (GRCm39) |
I1733T |
probably damaging |
Het |
Slc6a2 |
T |
C |
8: 93,723,685 (GRCm39) |
V601A |
possibly damaging |
Het |
Ubr1 |
A |
G |
2: 120,771,574 (GRCm39) |
I438T |
possibly damaging |
Het |
Unc93a |
C |
A |
17: 13,339,643 (GRCm39) |
|
probably null |
Het |
Zfp616 |
G |
A |
11: 73,976,631 (GRCm39) |
A967T |
probably benign |
Het |
|
Other mutations in Gm57858 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02673:Gm57858
|
APN |
3 |
36,100,848 (GRCm39) |
splice site |
probably benign |
|
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 |
2012-04-20 |