Incidental Mutation 'IGL02727:Gm57858'
| ID |
305261 |
| 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 # |
IGL02727
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
36061396-36107696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36087065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 176
(R176S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166644]
[ENSMUST00000196964]
[ENSMUST00000200469]
|
| AlphaFold |
E9PVZ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166644
AA Change: R176S
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000132995
Gene: ENSMUSG00000047696
AA Change: R176S
| 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 |
possibly damaging
Transcript: ENSMUST00000196964
AA Change: R176S
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000142406
Gene: ENSMUSG00000047696
AA Change: R176S
| 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
AA Change: R176S
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142910
Gene: ENSMUSG00000047696
AA Change: R176S
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
T |
C |
1: 53,226,724 (GRCm39) |
T13A |
probably benign |
Het |
| Aldh1l2 |
T |
A |
10: 83,342,469 (GRCm39) |
K447I |
probably damaging |
Het |
| Ankrd17 |
A |
G |
5: 90,392,151 (GRCm39) |
S1840P |
possibly damaging |
Het |
| Ash1l |
A |
G |
3: 88,930,344 (GRCm39) |
I1940M |
probably benign |
Het |
| Bfar |
T |
G |
16: 13,506,791 (GRCm39) |
|
probably null |
Het |
| Bicra |
G |
T |
7: 15,713,390 (GRCm39) |
H937Q |
possibly damaging |
Het |
| Brip1 |
A |
T |
11: 86,043,562 (GRCm39) |
M334K |
probably benign |
Het |
| Camsap2 |
T |
G |
1: 136,232,050 (GRCm39) |
M182L |
probably benign |
Het |
| Chd6 |
A |
T |
2: 160,811,383 (GRCm39) |
C1407S |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,234,753 (GRCm39) |
S112P |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 16,281,341 (GRCm39) |
V728E |
probably damaging |
Het |
| Cyp2j6 |
T |
A |
4: 96,434,001 (GRCm39) |
Q103L |
probably benign |
Het |
| Ddias |
A |
T |
7: 92,515,830 (GRCm39) |
I21K |
probably damaging |
Het |
| Derl2 |
A |
C |
11: 70,904,036 (GRCm39) |
|
probably benign |
Het |
| Dgka |
A |
T |
10: 128,558,317 (GRCm39) |
|
probably benign |
Het |
| Dusp11 |
T |
C |
6: 85,938,474 (GRCm39) |
D15G |
probably damaging |
Het |
| Enpp2 |
T |
C |
15: 54,773,577 (GRCm39) |
D110G |
probably damaging |
Het |
| Fkbp11 |
A |
T |
15: 98,622,471 (GRCm39) |
V134E |
probably damaging |
Het |
| Gm3248 |
T |
C |
14: 5,945,036 (GRCm38) |
T49A |
probably damaging |
Het |
| Irag2 |
T |
C |
6: 145,120,344 (GRCm39) |
S520P |
possibly damaging |
Het |
| Luzp2 |
T |
C |
7: 54,821,939 (GRCm39) |
|
probably benign |
Het |
| Manea |
C |
A |
4: 26,328,127 (GRCm39) |
E305* |
probably null |
Het |
| Manea |
T |
A |
4: 26,328,126 (GRCm39) |
E305V |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,337,606 (GRCm39) |
|
probably null |
Het |
| Mrpl3 |
G |
T |
9: 104,931,726 (GRCm39) |
D59Y |
probably damaging |
Het |
| Myh9 |
T |
C |
15: 77,675,942 (GRCm39) |
Y248C |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,468,353 (GRCm39) |
|
probably benign |
Het |
| Or10a5 |
G |
T |
7: 106,635,902 (GRCm39) |
C180F |
probably damaging |
Het |
| Or1f19 |
T |
A |
16: 3,411,190 (GRCm39) |
I310K |
probably benign |
Het |
| Or2y1c |
G |
T |
11: 49,361,893 (GRCm39) |
G305V |
probably benign |
Het |
| Or8b40 |
A |
G |
9: 38,027,808 (GRCm39) |
T239A |
probably damaging |
Het |
| Pax8 |
C |
A |
2: 24,331,642 (GRCm39) |
C147F |
probably damaging |
Het |
| Phf12 |
T |
C |
11: 77,914,493 (GRCm39) |
V96A |
possibly damaging |
Het |
| Psg18 |
A |
T |
7: 18,079,875 (GRCm39) |
I442K |
probably damaging |
Het |
| Pygl |
T |
A |
12: 70,254,442 (GRCm39) |
|
probably null |
Het |
| Rassf2 |
C |
A |
2: 131,846,307 (GRCm39) |
R150L |
probably benign |
Het |
| Rdh7 |
A |
T |
10: 127,723,487 (GRCm39) |
W123R |
probably damaging |
Het |
| Saal1 |
T |
C |
7: 46,339,223 (GRCm39) |
|
probably null |
Het |
| Sall1 |
T |
C |
8: 89,757,383 (GRCm39) |
D907G |
probably damaging |
Het |
| Spag1 |
T |
A |
15: 36,234,964 (GRCm39) |
F876I |
probably damaging |
Het |
| Syncrip |
G |
A |
9: 88,361,932 (GRCm39) |
A61V |
probably damaging |
Het |
| Trbv3 |
A |
T |
6: 41,025,576 (GRCm39) |
K55N |
probably benign |
Het |
| Vmn1r178 |
A |
G |
7: 23,593,871 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
T |
C |
10: 130,229,995 (GRCm39) |
D39G |
possibly damaging |
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 |
|
IGL02673:Gm57858
|
APN |
3 |
36,100,848 (GRCm39) |
splice site |
probably benign |
|
|
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 |
Incidental Mutation