Incidental Mutation 'IGL00324:Gm4553'
ID |
332257 |
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 # |
IGL00324
|
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 |
Abcd3 |
T |
C |
3: 121,570,642 (GRCm39) |
|
probably benign |
Het |
Cdk12 |
T |
A |
11: 98,136,214 (GRCm39) |
L1156Q |
unknown |
Het |
Ctsl |
T |
C |
13: 64,515,982 (GRCm39) |
Y66C |
probably damaging |
Het |
Esd |
C |
T |
14: 74,973,467 (GRCm39) |
H21Y |
probably damaging |
Het |
Fcrlb |
A |
C |
1: 170,736,393 (GRCm39) |
Y128D |
possibly damaging |
Het |
Gm17027 |
A |
T |
14: 41,981,267 (GRCm39) |
N196K |
unknown |
Het |
Hpcal1 |
A |
G |
12: 17,841,146 (GRCm39) |
S175G |
probably benign |
Het |
Itgam |
A |
T |
7: 127,684,833 (GRCm39) |
D401V |
probably damaging |
Het |
Kank1 |
A |
G |
19: 25,389,122 (GRCm39) |
T932A |
probably benign |
Het |
Lmod1 |
A |
G |
1: 135,292,216 (GRCm39) |
K357R |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,599,186 (GRCm39) |
I3271V |
probably benign |
Het |
Nlrc5 |
A |
G |
8: 95,248,107 (GRCm39) |
K1692E |
probably damaging |
Het |
Ocln |
A |
G |
13: 100,671,521 (GRCm39) |
W279R |
probably damaging |
Het |
Or4p20 |
T |
C |
2: 88,254,130 (GRCm39) |
I80V |
probably benign |
Het |
Pcsk1 |
A |
G |
13: 75,280,206 (GRCm39) |
K677R |
probably benign |
Het |
Pitrm1 |
T |
A |
13: 6,618,702 (GRCm39) |
L586Q |
probably damaging |
Het |
Plppr3 |
G |
A |
10: 79,702,503 (GRCm39) |
S217L |
probably damaging |
Het |
Pnldc1 |
A |
T |
17: 13,124,645 (GRCm39) |
|
probably benign |
Het |
Pramel12 |
T |
A |
4: 143,143,237 (GRCm39) |
M1K |
probably null |
Het |
Pramel13 |
A |
G |
4: 144,121,310 (GRCm39) |
L238P |
possibly damaging |
Het |
Sema6b |
C |
T |
17: 56,437,048 (GRCm39) |
D204N |
probably damaging |
Het |
Slc12a5 |
A |
G |
2: 164,839,041 (GRCm39) |
N1063S |
probably damaging |
Het |
Tg |
T |
C |
15: 66,565,273 (GRCm39) |
V1205A |
probably benign |
Het |
Tmem260 |
T |
C |
14: 48,724,336 (GRCm39) |
F205L |
probably benign |
Het |
Trappc11 |
A |
T |
8: 47,956,337 (GRCm39) |
|
probably benign |
Het |
Tsen34 |
A |
G |
7: 3,703,530 (GRCm39) |
*296W |
probably null |
Het |
Ubr2 |
A |
G |
17: 47,296,986 (GRCm39) |
|
probably benign |
Het |
Vmn2r23 |
T |
A |
6: 123,706,684 (GRCm39) |
W505R |
possibly damaging |
Het |
Wbp11 |
A |
G |
6: 136,798,668 (GRCm39) |
|
probably benign |
Het |
Znfx1 |
A |
T |
2: 166,878,649 (GRCm39) |
M1909K |
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 |
|
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 |
|
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 |