Incidental Mutation 'IGL00773:Gm57858'
| ID |
12511 |
| 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 # |
IGL00773
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
36061396-36107696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36089486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 146
(L146P)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166644]
[ENSMUST00000196964]
[ENSMUST00000200469]
|
| AlphaFold |
E9PVZ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062056
AA Change: L146P
PolyPhen 2
Score 1.000 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000058450
Gene: ENSMUSG00000047696
AA Change: L146P
| 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 |
probably damaging
Transcript: ENSMUST00000166644
AA Change: L146P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132995
Gene: ENSMUSG00000047696
AA Change: L146P
| 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 damaging
Transcript: ENSMUST00000196964
AA Change: L146P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142406
Gene: ENSMUSG00000047696
AA Change: L146P
| 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 damaging
Transcript: ENSMUST00000200469
AA Change: L146P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142910
Gene: ENSMUSG00000047696
AA Change: L146P
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actc1 |
T |
C |
2: 113,878,594 (GRCm39) |
|
probably benign |
Het |
| Aff1 |
C |
T |
5: 103,931,943 (GRCm39) |
S195F |
probably damaging |
Het |
| Atm |
G |
T |
9: 53,433,444 (GRCm39) |
H269N |
probably benign |
Het |
| Cdc25c |
A |
T |
18: 34,880,294 (GRCm39) |
S147T |
probably benign |
Het |
| Cdnf |
A |
G |
2: 3,520,392 (GRCm39) |
D57G |
possibly damaging |
Het |
| Cep170 |
T |
C |
1: 176,582,965 (GRCm39) |
D1138G |
probably damaging |
Het |
| Cfap70 |
A |
G |
14: 20,497,602 (GRCm39) |
S51P |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,454,115 (GRCm39) |
M3577T |
probably damaging |
Het |
| Cyb5rl |
C |
T |
4: 106,941,493 (GRCm39) |
A246V |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,735,532 (GRCm39) |
S827T |
probably benign |
Het |
| Epha3 |
T |
A |
16: 63,387,047 (GRCm39) |
Q862L |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,238,960 (GRCm39) |
V407A |
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,085,247 (GRCm39) |
I1751T |
probably benign |
Het |
| Pcm1 |
T |
C |
8: 41,727,314 (GRCm39) |
L528P |
probably damaging |
Het |
| Pla2g7 |
T |
G |
17: 43,913,762 (GRCm39) |
I235S |
probably damaging |
Het |
| Plekhh2 |
C |
T |
17: 84,914,296 (GRCm39) |
T1233M |
probably benign |
Het |
| Ptpn21 |
C |
T |
12: 98,654,572 (GRCm39) |
M798I |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,002,628 (GRCm39) |
K1573E |
probably benign |
Het |
| Rassf6 |
C |
T |
5: 90,751,999 (GRCm39) |
V272M |
probably damaging |
Het |
| Rprd2 |
A |
T |
3: 95,672,421 (GRCm39) |
F994Y |
probably damaging |
Het |
| Slc13a1 |
C |
T |
6: 24,118,016 (GRCm39) |
M240I |
possibly damaging |
Het |
| Slc22a6 |
A |
T |
19: 8,599,232 (GRCm39) |
I288F |
probably benign |
Het |
| Slc6a3 |
T |
A |
13: 73,692,860 (GRCm39) |
I160N |
probably damaging |
Het |
| Slfn10-ps |
T |
A |
11: 82,926,355 (GRCm39) |
|
noncoding transcript |
Het |
| Snx14 |
A |
T |
9: 88,276,592 (GRCm39) |
D564E |
probably damaging |
Het |
| Tceanc |
T |
A |
X: 165,285,857 (GRCm39) |
L179F |
probably benign |
Het |
| Tpm2 |
T |
C |
4: 43,518,251 (GRCm39) |
K251E |
probably damaging |
Het |
| Trpm2 |
T |
A |
10: 77,785,048 (GRCm39) |
R191* |
probably null |
Het |
| Trpm3 |
T |
A |
19: 22,877,523 (GRCm39) |
M602K |
possibly damaging |
Het |
| Zbtb21 |
A |
T |
16: 97,753,520 (GRCm39) |
D282E |
probably benign |
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 |
|
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 |
2012-12-06 |
Incidental Mutation