Incidental Mutation 'IGL01882:Gm3696'
| ID |
179039 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm3696
|
| Ensembl Gene |
ENSMUSG00000092167 |
| Gene Name |
predicted gene 3696 |
| Synonyms |
Gm5794 |
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
IGL01882
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
15369152-15386565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 18433062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 199
(Q199K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167923]
[ENSMUST00000179898]
|
| AlphaFold |
K7N751 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167923
AA Change: Q199K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132868
Gene: ENSMUSG00000092167
AA Change: Q199K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
48 |
128 |
1.3e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179898
AA Change: Q199K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137098
Gene: ENSMUSG00000092167
AA Change: Q199K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
46 |
129 |
1e-31 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
T |
C |
7: 119,373,858 (GRCm39) |
L248S |
probably damaging |
Het |
| Arhgef17 |
A |
T |
7: 100,527,787 (GRCm39) |
C734* |
probably null |
Het |
| Bcat1 |
G |
A |
6: 144,950,135 (GRCm39) |
T354M |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,523,601 (GRCm39) |
V246A |
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Ifna2 |
A |
G |
4: 88,601,979 (GRCm39) |
V13A |
possibly damaging |
Het |
| Letm1 |
A |
G |
5: 33,927,009 (GRCm39) |
V96A |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,319,018 (GRCm39) |
I749V |
possibly damaging |
Het |
| Mkln1 |
A |
G |
6: 31,428,469 (GRCm39) |
N266S |
probably benign |
Het |
| Or8b35 |
A |
G |
9: 37,903,856 (GRCm39) |
T18A |
probably damaging |
Het |
| Pdia4 |
A |
G |
6: 47,780,412 (GRCm39) |
L307P |
probably benign |
Het |
| Ptprz1 |
C |
T |
6: 23,000,463 (GRCm39) |
P851L |
probably damaging |
Het |
|
| Other mutations in Gm3696 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01327:Gm3696
|
APN |
14 |
18,435,903 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01568:Gm3696
|
APN |
14 |
18,435,020 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01903:Gm3696
|
APN |
14 |
18,434,983 (GRCm39) |
splice site |
probably benign |
|
|
R7286:Gm3696
|
UTSW |
14 |
18,435,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7806:Gm3696
|
UTSW |
14 |
18,433,095 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7806:Gm3696
|
UTSW |
14 |
18,433,094 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8080:Gm3696
|
UTSW |
14 |
18,435,071 (GRCm39) |
nonsense |
probably null |
|
|
R9796:Gm3696
|
UTSW |
14 |
18,435,140 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2014-05-07 |
Incidental Mutation