Incidental Mutation 'IGL00329:Gm4553'
| ID |
332272 |
| 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 # |
IGL00329
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
A |
G |
3: 36,123,911 (GRCm39) |
N72S |
probably benign |
Het |
| Aopep |
T |
A |
13: 63,338,977 (GRCm39) |
I623N |
probably damaging |
Het |
| Apba3 |
C |
T |
10: 81,108,901 (GRCm39) |
P555S |
probably damaging |
Het |
| Arcn1 |
C |
A |
9: 44,670,333 (GRCm39) |
E98* |
probably null |
Het |
| Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
| Col28a1 |
G |
T |
6: 8,175,425 (GRCm39) |
T141K |
probably damaging |
Het |
| Dna2 |
T |
C |
10: 62,802,222 (GRCm39) |
F811S |
probably damaging |
Het |
| Dusp19 |
T |
A |
2: 80,461,269 (GRCm39) |
I186K |
probably damaging |
Het |
| Dync2li1 |
A |
G |
17: 84,952,154 (GRCm39) |
D195G |
possibly damaging |
Het |
| Epm2aip1 |
T |
C |
9: 111,101,855 (GRCm39) |
V276A |
possibly damaging |
Het |
| Extl3 |
T |
C |
14: 65,313,070 (GRCm39) |
E704G |
probably benign |
Het |
| Gle1 |
T |
C |
2: 29,829,301 (GRCm39) |
|
probably benign |
Het |
| Gm2178 |
C |
A |
14: 26,235,767 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,774,047 (GRCm39) |
L1166Q |
probably damaging |
Het |
| Hsd11b2 |
A |
G |
8: 106,249,759 (GRCm39) |
E290G |
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,595,725 (GRCm39) |
V157A |
probably benign |
Het |
| Krt72 |
T |
A |
15: 101,693,434 (GRCm39) |
Q160L |
probably damaging |
Het |
| Lrrd1 |
A |
G |
5: 3,900,081 (GRCm39) |
K129E |
possibly damaging |
Het |
| Mapk13 |
A |
G |
17: 28,995,379 (GRCm39) |
Y200C |
probably damaging |
Het |
| Mme |
G |
A |
3: 63,287,749 (GRCm39) |
W750* |
probably null |
Het |
| Nat8l |
C |
T |
5: 34,155,761 (GRCm39) |
P139L |
probably damaging |
Het |
| Nrtn |
C |
A |
17: 57,058,569 (GRCm39) |
R144L |
probably benign |
Het |
| Or52h9 |
C |
A |
7: 104,202,299 (GRCm39) |
P58T |
probably benign |
Het |
| Pate12 |
G |
A |
9: 36,344,198 (GRCm39) |
|
probably benign |
Het |
| Pdgfa |
T |
A |
5: 138,974,216 (GRCm39) |
|
probably benign |
Het |
| Rtp3 |
A |
G |
9: 110,815,666 (GRCm39) |
V233A |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,078,474 (GRCm39) |
|
probably benign |
Het |
| Trappc10 |
A |
T |
10: 78,039,711 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,216,288 (GRCm39) |
T380A |
probably benign |
Het |
| Vmn1r21 |
A |
T |
6: 57,821,049 (GRCm39) |
S132T |
probably benign |
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 |
|
|
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 |
|
|
IGL00338: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 |
Incidental Mutation