Incidental Mutation 'IGL00338:Gm4553'
ID |
332328 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm4553
|
Ensembl Gene |
ENSMUSG00000090471 |
Gene Name |
predicted gene 4553 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.110)
|
Stock # |
IGL00338
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
141718433-141719476 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 141718964 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 155
(S155G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147863
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168049]
[ENSMUST00000210925]
|
AlphaFold |
A0A1B0GSA9 |
Predicted Effect |
unknown
Transcript: ENSMUST00000168049
AA Change: S171G
|
SMART Domains |
Protein: ENSMUSP00000131778 Gene: ENSMUSG00000090471 AA Change: S171G
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
238 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000210925
AA Change: S155G
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd11 |
A |
G |
5: 135,040,839 (GRCm39) |
D217G |
probably benign |
Het |
Ankar |
T |
A |
1: 72,729,290 (GRCm39) |
Y285F |
probably damaging |
Het |
Ano8 |
C |
A |
8: 71,936,902 (GRCm39) |
|
probably benign |
Het |
Bche |
A |
G |
3: 73,608,640 (GRCm39) |
V262A |
probably benign |
Het |
Car13 |
T |
C |
3: 14,721,964 (GRCm39) |
|
probably benign |
Het |
Cd244a |
T |
A |
1: 171,401,938 (GRCm39) |
|
probably null |
Het |
Cfap157 |
T |
C |
2: 32,671,395 (GRCm39) |
D137G |
probably damaging |
Het |
Cobl |
T |
C |
11: 12,325,813 (GRCm39) |
R119G |
possibly damaging |
Het |
Gp2 |
A |
G |
7: 119,053,613 (GRCm39) |
M116T |
probably damaging |
Het |
Gp5 |
C |
A |
16: 30,127,640 (GRCm39) |
A345S |
probably benign |
Het |
Gphn |
A |
T |
12: 78,551,406 (GRCm39) |
I285F |
probably damaging |
Het |
Heatr5b |
A |
G |
17: 79,110,863 (GRCm39) |
V995A |
probably damaging |
Het |
Hecw2 |
T |
C |
1: 53,867,040 (GRCm39) |
|
probably benign |
Het |
Hydin |
C |
A |
8: 111,296,434 (GRCm39) |
N3654K |
possibly damaging |
Het |
Inpp5b |
A |
G |
4: 124,678,168 (GRCm39) |
Y440C |
possibly damaging |
Het |
Or4a47 |
A |
T |
2: 89,665,802 (GRCm39) |
Y162* |
probably null |
Het |
Pphln1 |
A |
G |
15: 93,363,091 (GRCm39) |
K306E |
probably damaging |
Het |
Rnf26 |
A |
C |
9: 44,024,156 (GRCm39) |
S31A |
probably benign |
Het |
Ros1 |
A |
T |
10: 52,001,907 (GRCm39) |
S1072T |
probably benign |
Het |
Skic2 |
A |
G |
17: 35,065,643 (GRCm39) |
W304R |
probably damaging |
Het |
Slc22a14 |
A |
G |
9: 119,007,579 (GRCm39) |
F277L |
possibly damaging |
Het |
Slc22a26 |
A |
T |
19: 7,760,340 (GRCm39) |
L468I |
probably benign |
Het |
Tchh |
C |
T |
3: 93,354,951 (GRCm39) |
L1464F |
unknown |
Het |
Tmem260 |
C |
T |
14: 48,715,093 (GRCm39) |
T249M |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,804,409 (GRCm39) |
S288P |
probably damaging |
Het |
Usp17lc |
A |
G |
7: 103,068,148 (GRCm39) |
H481R |
possibly damaging |
Het |
Vps50 |
C |
T |
6: 3,602,670 (GRCm39) |
T929M |
probably benign |
Het |
Zdhhc8 |
A |
G |
16: 18,043,060 (GRCm39) |
L380P |
possibly damaging |
Het |
|
Other mutations in Gm4553 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00323:Gm4553
|
APN |
7 |
141,718,964 (GRCm39) |
missense |
unknown |
|
IGL00324:Gm4553
|
APN |
7 |
141,718,964 (GRCm39) |
missense |
unknown |
|
IGL00325:Gm4553
|
APN |
7 |
141,718,964 (GRCm39) |
missense |
unknown |
|
IGL00329:Gm4553
|
APN |
7 |
141,718,964 (GRCm39) |
missense |
unknown |
|
IGL00332:Gm4553
|
APN |
7 |
141,718,964 (GRCm39) |
missense |
unknown |
|
IGL00336:Gm4553
|
APN |
7 |
141,718,964 (GRCm39) |
missense |
unknown |
|
IGL00337:Gm4553
|
APN |
7 |
141,718,964 (GRCm39) |
missense |
unknown |
|
IGL00339:Gm4553
|
APN |
7 |
141,718,964 (GRCm39) |
missense |
unknown |
|
IGL00340:Gm4553
|
APN |
7 |
141,718,964 (GRCm39) |
missense |
unknown |
|
IGL01348:Gm4553
|
APN |
7 |
141,718,909 (GRCm39) |
missense |
unknown |
|
R0468:Gm4553
|
UTSW |
7 |
141,719,362 (GRCm39) |
missense |
unknown |
|
R0568:Gm4553
|
UTSW |
7 |
141,719,357 (GRCm39) |
missense |
unknown |
|
R0932:Gm4553
|
UTSW |
7 |
141,719,423 (GRCm39) |
missense |
unknown |
|
R4988:Gm4553
|
UTSW |
7 |
141,718,729 (GRCm39) |
unclassified |
probably benign |
|
R5050:Gm4553
|
UTSW |
7 |
141,718,773 (GRCm39) |
missense |
unknown |
|
R7317:Gm4553
|
UTSW |
7 |
141,719,157 (GRCm39) |
small deletion |
probably benign |
|
R7372:Gm4553
|
UTSW |
7 |
141,719,157 (GRCm39) |
small deletion |
probably benign |
|
R7709:Gm4553
|
UTSW |
7 |
141,719,384 (GRCm39) |
missense |
unknown |
|
R7901:Gm4553
|
UTSW |
7 |
141,718,602 (GRCm39) |
small deletion |
probably benign |
|
R8179:Gm4553
|
UTSW |
7 |
141,718,594 (GRCm39) |
missense |
unknown |
|
R8296:Gm4553
|
UTSW |
7 |
141,719,458 (GRCm39) |
missense |
unknown |
|
R8510:Gm4553
|
UTSW |
7 |
141,719,025 (GRCm39) |
small deletion |
probably benign |
|
R8549:Gm4553
|
UTSW |
7 |
141,719,157 (GRCm39) |
small deletion |
probably benign |
|
R9288:Gm4553
|
UTSW |
7 |
141,719,025 (GRCm39) |
small deletion |
probably benign |
|
R9335:Gm4553
|
UTSW |
7 |
141,719,157 (GRCm39) |
small deletion |
probably benign |
|
R9497:Gm4553
|
UTSW |
7 |
141,719,298 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-08-05 |