Incidental Mutation 'IGL00958:Gm5800'
ID |
28971 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm5800
|
Ensembl Gene |
ENSMUSG00000068506 |
Gene Name |
predicted gene 5800 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
IGL00958
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
51949101-51954589 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51951269 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 110
(L110P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093605
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095916]
|
AlphaFold |
Q497L3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095916
AA Change: L110P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000093605 Gene: ENSMUSG00000068506 AA Change: L110P
Domain | Start | End | E-Value | Type |
Pfam:Takusan
|
10 |
90 |
4.7e-28 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
G |
T |
10: 29,103,324 (GRCm39) |
R635M |
probably benign |
Het |
Arhgef19 |
T |
C |
4: 140,976,294 (GRCm39) |
|
probably benign |
Het |
Cd101 |
T |
C |
3: 100,911,018 (GRCm39) |
D880G |
probably damaging |
Het |
Cdk5rap3 |
T |
C |
11: 96,800,793 (GRCm39) |
N348D |
probably benign |
Het |
Cep295nl |
G |
A |
11: 118,224,730 (GRCm39) |
T38I |
probably damaging |
Het |
Col3a1 |
T |
G |
1: 45,366,755 (GRCm39) |
S232A |
unknown |
Het |
Ddx1 |
T |
C |
12: 13,290,849 (GRCm39) |
|
probably null |
Het |
Gckr |
A |
T |
5: 31,456,129 (GRCm39) |
|
probably null |
Het |
H2ac25 |
G |
T |
11: 58,845,766 (GRCm39) |
G68V |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Mfap3l |
A |
G |
8: 61,124,516 (GRCm39) |
I253V |
probably benign |
Het |
Or10q1b |
G |
A |
19: 13,683,096 (GRCm39) |
V302I |
probably benign |
Het |
Or13a28 |
T |
A |
7: 140,218,169 (GRCm39) |
L185H |
probably damaging |
Het |
Or1j10 |
A |
G |
2: 36,266,928 (GRCm39) |
I47V |
probably damaging |
Het |
Or4k42 |
A |
G |
2: 111,319,565 (GRCm39) |
*313Q |
probably null |
Het |
Or51a42 |
T |
C |
7: 103,708,620 (GRCm39) |
Y63C |
probably benign |
Het |
Or8b3b |
A |
G |
9: 38,584,320 (GRCm39) |
V153A |
probably benign |
Het |
Pias3 |
C |
T |
3: 96,606,738 (GRCm39) |
|
probably benign |
Het |
Ppox |
A |
G |
1: 171,105,453 (GRCm39) |
|
probably null |
Het |
Raet1d |
A |
G |
10: 22,246,791 (GRCm39) |
T40A |
possibly damaging |
Het |
Rcan2 |
G |
A |
17: 44,347,908 (GRCm39) |
V206I |
probably damaging |
Het |
Skic3 |
T |
C |
13: 76,270,864 (GRCm39) |
Y288H |
probably damaging |
Het |
Slc8b1 |
T |
C |
5: 120,671,049 (GRCm39) |
L545P |
probably damaging |
Het |
Tmem145 |
T |
G |
7: 25,006,782 (GRCm39) |
|
probably null |
Het |
Trib2 |
T |
C |
12: 15,843,634 (GRCm39) |
E336G |
possibly damaging |
Het |
|
Other mutations in Gm5800 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03325:Gm5800
|
APN |
14 |
51,951,983 (GRCm39) |
missense |
probably benign |
|
R0037:Gm5800
|
UTSW |
14 |
51,953,605 (GRCm39) |
splice site |
probably benign |
|
R0597:Gm5800
|
UTSW |
14 |
51,953,461 (GRCm39) |
missense |
probably benign |
|
R1577:Gm5800
|
UTSW |
14 |
51,952,016 (GRCm39) |
missense |
probably benign |
0.05 |
R1834:Gm5800
|
UTSW |
14 |
51,953,549 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1934:Gm5800
|
UTSW |
14 |
51,949,396 (GRCm39) |
missense |
possibly damaging |
0.96 |
R2169:Gm5800
|
UTSW |
14 |
51,951,135 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2180:Gm5800
|
UTSW |
14 |
51,953,451 (GRCm39) |
nonsense |
probably null |
|
R4861:Gm5800
|
UTSW |
14 |
51,953,504 (GRCm39) |
missense |
probably damaging |
0.98 |
R4861:Gm5800
|
UTSW |
14 |
51,953,504 (GRCm39) |
missense |
probably damaging |
0.98 |
R5267:Gm5800
|
UTSW |
14 |
51,951,294 (GRCm39) |
splice site |
probably null |
|
R6545:Gm5800
|
UTSW |
14 |
51,949,419 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6634:Gm5800
|
UTSW |
14 |
51,953,595 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6925:Gm5800
|
UTSW |
14 |
51,951,157 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7632:Gm5800
|
UTSW |
14 |
51,953,905 (GRCm39) |
splice site |
probably null |
|
R9067:Gm5800
|
UTSW |
14 |
51,951,995 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Posted On |
2013-04-17 |