Incidental Mutation 'IGL01454:Gm21560'
| ID |
84714 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm21560
|
| Ensembl Gene |
ENSMUSG00000094460 |
| Gene Name |
predicted gene, 21560 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
IGL01454
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
16250563-16257832 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6216286 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 186
(F186L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168480]
[ENSMUST00000177670]
|
| AlphaFold |
D3Z7A4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168480
AA Change: F186L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133183
Gene: ENSMUSG00000094460
AA Change: F186L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
48 |
128 |
9e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177670
AA Change: F186L
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000136828
Gene: ENSMUSG00000094460
AA Change: F186L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
46 |
129 |
5e-35 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap25 |
G |
A |
6: 87,473,058 (GRCm39) |
A33V |
possibly damaging |
Het |
| BC004004 |
T |
C |
17: 29,512,995 (GRCm39) |
S140P |
possibly damaging |
Het |
| Cul3 |
T |
C |
1: 80,281,900 (GRCm39) |
D26G |
probably damaging |
Het |
| Dnah17 |
A |
T |
11: 117,949,223 (GRCm39) |
F2929I |
probably damaging |
Het |
| Krt32 |
C |
T |
11: 99,974,907 (GRCm39) |
E347K |
probably damaging |
Het |
| Mtarc1 |
A |
G |
1: 184,539,377 (GRCm39) |
L98P |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,174,422 (GRCm39) |
I223T |
probably damaging |
Het |
| Nr4a3 |
T |
A |
4: 48,067,803 (GRCm39) |
D466E |
probably damaging |
Het |
| Plxnb1 |
A |
T |
9: 108,942,422 (GRCm39) |
D1757V |
probably damaging |
Het |
| Pnpt1 |
T |
C |
11: 29,087,142 (GRCm39) |
I167T |
probably benign |
Het |
| Polrmt |
T |
C |
10: 79,579,517 (GRCm39) |
E78G |
possibly damaging |
Het |
| Pparg |
A |
G |
6: 115,416,900 (GRCm39) |
D31G |
probably damaging |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Trio |
T |
C |
15: 27,833,071 (GRCm39) |
I104V |
probably benign |
Het |
| Vgll4 |
A |
G |
6: 114,840,957 (GRCm39) |
V113A |
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Zscan20 |
T |
C |
4: 128,483,334 (GRCm39) |
E445G |
probably benign |
Het |
|
| Other mutations in Gm21560 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R6997:Gm21560
|
UTSW |
14 |
6,218,333 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7842:Gm21560
|
UTSW |
14 |
6,216,262 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7899:Gm21560
|
UTSW |
14 |
6,218,220 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9216:Gm21560
|
UTSW |
14 |
6,218,338 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9361:Gm21560
|
UTSW |
14 |
6,218,262 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R9629:Gm21560
|
UTSW |
14 |
6,218,250 (GRCm38) |
missense |
probably benign |
|
|
| Posted On |
2013-11-11 |
Incidental Mutation