Incidental Mutation 'IGL02438:Gm6619'
| ID |
293361 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm6619
|
| Ensembl Gene |
ENSMUSG00000095577 |
| Gene Name |
predicted gene 6619 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
IGL02438
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
131463369-131468456 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 131467398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 88
(S88P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075020]
[ENSMUST00000159229]
|
| AlphaFold |
F6URP1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075020
|
| SMART Domains |
Protein: ENSMUSP00000074539
Gene: ENSMUSG00000094113
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
166 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159229
AA Change: S88P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123949
Gene: ENSMUSG00000095577
AA Change: S88P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
166 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
T |
C |
5: 121,639,101 (GRCm39) |
N648S |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dna2 |
A |
G |
10: 62,792,841 (GRCm39) |
I285M |
possibly damaging |
Het |
| Fbxw8 |
A |
G |
5: 118,233,758 (GRCm39) |
F291S |
probably benign |
Het |
| Ist1 |
A |
G |
8: 110,402,002 (GRCm39) |
|
probably benign |
Het |
| Muc13 |
T |
A |
16: 33,628,350 (GRCm39) |
S367T |
possibly damaging |
Het |
| Necab3 |
T |
A |
2: 154,387,964 (GRCm39) |
D284V |
probably damaging |
Het |
| Nit2 |
G |
A |
16: 56,981,511 (GRCm39) |
Q83* |
probably null |
Het |
| Ppcs |
A |
G |
4: 119,278,889 (GRCm39) |
|
probably benign |
Het |
| Slc26a2 |
G |
T |
18: 61,335,289 (GRCm39) |
H55N |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Trmt2b |
C |
A |
X: 133,143,832 (GRCm39) |
V219L |
probably benign |
Het |
| Ugt3a1 |
A |
G |
15: 9,292,062 (GRCm39) |
D27G |
possibly damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,601,824 (GRCm39) |
F605L |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,651,744 (GRCm39) |
L381P |
probably damaging |
Het |
|
| Other mutations in Gm6619 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01099:Gm6619
|
APN |
6 |
131,467,393 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02511:Gm6619
|
APN |
6 |
131,467,330 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL03333:Gm6619
|
APN |
6 |
131,467,471 (GRCm39) |
intron |
probably benign |
|
|
R0744:Gm6619
|
UTSW |
6 |
131,467,297 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2150:Gm6619
|
UTSW |
6 |
131,466,021 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5817:Gm6619
|
UTSW |
6 |
131,463,400 (GRCm39) |
missense |
unknown |
|
|
R6869:Gm6619
|
UTSW |
6 |
131,463,401 (GRCm39) |
missense |
unknown |
|
|
R7439:Gm6619
|
UTSW |
6 |
131,467,354 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7441:Gm6619
|
UTSW |
6 |
131,467,354 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9413:Gm6619
|
UTSW |
6 |
131,468,370 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation