Incidental Mutation 'R5755:Gm57858'
ID |
444988 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm57858
|
Ensembl Gene |
ENSMUSG00000047696 |
Gene Name |
gene model 57858 |
Synonyms |
Ccdc144b |
MMRRC Submission |
043202-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R5755 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
36061396-36107696 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 36071842 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 501
(M501K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166644]
[ENSMUST00000196964]
[ENSMUST00000200469]
|
AlphaFold |
E9PVZ3 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124469
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166644
AA Change: M501K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000132995 Gene: ENSMUSG00000047696 AA Change: M501K
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
AA Change: M501K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000142910 Gene: ENSMUSG00000047696 AA Change: M501K
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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,617,428 (GRCm39) |
F1042I |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,979,096 (GRCm39) |
T127A |
probably benign |
Het |
Aloxe3 |
A |
G |
11: 69,023,575 (GRCm39) |
I233V |
probably benign |
Het |
Ambn |
T |
A |
5: 88,612,350 (GRCm39) |
|
probably null |
Het |
Atp2b1 |
A |
G |
10: 98,839,032 (GRCm39) |
E39G |
probably damaging |
Het |
Atp2b1 |
T |
C |
10: 98,830,671 (GRCm39) |
|
probably null |
Het |
Camsap2 |
C |
T |
1: 136,210,065 (GRCm39) |
G476R |
probably damaging |
Het |
Cdk4 |
T |
A |
10: 126,900,591 (GRCm39) |
|
probably null |
Het |
Dcaf12 |
T |
C |
4: 41,313,356 (GRCm39) |
Y63C |
probably damaging |
Het |
Dtna |
T |
A |
18: 23,754,520 (GRCm39) |
S445T |
probably benign |
Het |
Ehmt2 |
T |
C |
17: 35,127,214 (GRCm39) |
M109T |
probably benign |
Het |
Erbb4 |
T |
C |
1: 68,599,678 (GRCm39) |
E133G |
possibly damaging |
Het |
F830016B08Rik |
T |
A |
18: 60,433,878 (GRCm39) |
F320L |
probably damaging |
Het |
Fyco1 |
A |
G |
9: 123,657,773 (GRCm39) |
V801A |
possibly damaging |
Het |
Jag1 |
T |
A |
2: 136,930,610 (GRCm39) |
N674Y |
probably damaging |
Het |
Kcnj10 |
A |
G |
1: 172,197,161 (GRCm39) |
E225G |
possibly damaging |
Het |
Klhl11 |
T |
A |
11: 100,355,177 (GRCm39) |
M215L |
probably benign |
Het |
Kmt2d |
G |
T |
15: 98,761,527 (GRCm39) |
P608T |
unknown |
Het |
Map3k19 |
T |
C |
1: 127,750,118 (GRCm39) |
M1078V |
probably benign |
Het |
Neto1 |
T |
C |
18: 86,517,219 (GRCm39) |
V512A |
probably damaging |
Het |
Notch1 |
T |
C |
2: 26,363,704 (GRCm39) |
D910G |
probably benign |
Het |
Or1e19 |
T |
A |
11: 73,316,557 (GRCm39) |
N84I |
probably benign |
Het |
Or2w1 |
T |
A |
13: 21,317,695 (GRCm39) |
I250K |
probably damaging |
Het |
Parvg |
T |
C |
15: 84,215,297 (GRCm39) |
|
probably null |
Het |
Pi4kb |
A |
T |
3: 94,901,608 (GRCm39) |
|
probably null |
Het |
Plag1 |
T |
C |
4: 3,904,492 (GRCm39) |
K233R |
possibly damaging |
Het |
Polr1h |
T |
A |
17: 37,269,049 (GRCm39) |
D43V |
probably benign |
Het |
Rasgrp3 |
A |
C |
17: 75,831,940 (GRCm39) |
D587A |
probably benign |
Het |
Slc7a10 |
A |
T |
7: 34,898,336 (GRCm39) |
I336F |
probably damaging |
Het |
Snx8 |
T |
G |
5: 140,338,796 (GRCm39) |
E254A |
possibly damaging |
Het |
Sp3 |
A |
T |
2: 72,768,725 (GRCm39) |
|
silent |
Het |
Sp8 |
G |
T |
12: 118,812,822 (GRCm39) |
A226S |
probably damaging |
Het |
Spata31d1c |
C |
A |
13: 65,184,341 (GRCm39) |
Q628K |
probably benign |
Het |
Styx |
C |
A |
14: 45,605,910 (GRCm39) |
T138K |
probably benign |
Het |
Syngr3 |
A |
G |
17: 24,905,509 (GRCm39) |
F155S |
probably damaging |
Het |
Trip11 |
C |
T |
12: 101,851,924 (GRCm39) |
W428* |
probably null |
Het |
Ubr4 |
A |
G |
4: 139,187,406 (GRCm39) |
T3825A |
possibly damaging |
Het |
Vmn2r113 |
A |
T |
17: 23,176,955 (GRCm39) |
T580S |
probably benign |
Het |
Zbtb11 |
T |
A |
16: 55,821,076 (GRCm39) |
S724R |
probably benign |
Het |
Zcchc4 |
T |
C |
5: 52,973,511 (GRCm39) |
S379P |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAAGTCAGCAAATGAGTATGGC -3'
(R):5'- AAACCAAACTTCTCCTGGAGAG -3'
Sequencing Primer
(F):5'- CAGCAAATGAGTATGGCTTGTAAATG -3'
(R):5'- CTCCTGGAGAGAAAACAGTACCG -3'
|
Posted On |
2016-11-21 |