Incidental Mutation 'IGL01580:BC030500'
| ID |
91364 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
BC030500
|
| Ensembl Gene |
ENSMUSG00000049946 |
| Gene Name |
cDNA sequence BC030500 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL01580
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
59364789-59367332 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 59366054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145321
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062978]
[ENSMUST00000146513]
[ENSMUST00000160055]
[ENSMUST00000203398]
[ENSMUST00000204128]
|
| AlphaFold |
Q8K0R8 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000062978
AA Change: S63P
|
| SMART Domains |
Protein: ENSMUSP00000131717
Gene: ENSMUSG00000049946
AA Change: S63P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000077447
|
| SMART Domains |
Protein: ENSMUSP00000076660
Gene: ENSMUSG00000061864
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
31 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_2
|
143 |
188 |
4.9e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146513
|
| SMART Domains |
Protein: ENSMUSP00000118306
Gene: ENSMUSG00000096914
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
30 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000160055
AA Change: S127P
|
| SMART Domains |
Protein: ENSMUSP00000130369
Gene: ENSMUSG00000049946
AA Change: S127P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
112 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203398
|
| SMART Domains |
Protein: ENSMUSP00000145298
Gene: ENSMUSG00000096914
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204128
|
| SMART Domains |
Protein: ENSMUSP00000145321
Gene: ENSMUSG00000096914
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
31 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tranf_2_3
|
140 |
404 |
2.1e-9 |
PFAM |
|
Pfam:Glycos_transf_2
|
143 |
328 |
7.3e-33 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
143 |
356 |
1.2e-8 |
PFAM |
|
Pfam:Glyco_transf_7C
|
297 |
371 |
6.2e-12 |
PFAM |
|
RICIN
|
452 |
585 |
7.9e-21 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,243,527 (GRCm39) |
V1797I |
probably benign |
Het |
| Abi3bp |
A |
G |
16: 56,495,573 (GRCm39) |
E865G |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,980,203 (GRCm39) |
T496A |
probably benign |
Het |
| Col6a4 |
A |
C |
9: 105,945,397 (GRCm39) |
Y906D |
probably damaging |
Het |
| Dip2c |
T |
G |
13: 9,687,124 (GRCm39) |
|
probably null |
Het |
| Frem2 |
A |
G |
3: 53,562,596 (GRCm39) |
I637T |
probably damaging |
Het |
| Guf1 |
T |
C |
5: 69,722,764 (GRCm39) |
|
probably benign |
Het |
| Htr1f |
G |
A |
16: 64,746,198 (GRCm39) |
R365* |
probably null |
Het |
| Oog4 |
T |
C |
4: 143,165,682 (GRCm39) |
N155S |
probably benign |
Het |
| Or10ag2 |
A |
T |
2: 87,248,880 (GRCm39) |
I163F |
probably benign |
Het |
| Or52x1 |
T |
C |
7: 104,853,113 (GRCm39) |
I146V |
probably benign |
Het |
| Phactr3 |
C |
A |
2: 177,911,297 (GRCm39) |
|
probably benign |
Het |
| Pi4k2b |
T |
C |
5: 52,912,003 (GRCm39) |
V300A |
possibly damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,599,514 (GRCm39) |
D210G |
probably damaging |
Het |
| Pxdn |
A |
G |
12: 30,034,492 (GRCm39) |
T182A |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,456,225 (GRCm39) |
V1199A |
probably damaging |
Het |
| Scrn2 |
A |
G |
11: 96,922,956 (GRCm39) |
H133R |
probably benign |
Het |
| Shq1 |
G |
A |
6: 100,550,705 (GRCm39) |
S411L |
possibly damaging |
Het |
| Tmcc1 |
A |
C |
6: 116,019,946 (GRCm39) |
V462G |
possibly damaging |
Het |
|
| Other mutations in BC030500 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R5433:BC030500
|
UTSW |
8 |
59,366,043 (GRCm39) |
unclassified |
probably benign |
|
|
R6589:BC030500
|
UTSW |
8 |
59,365,956 (GRCm39) |
unclassified |
probably benign |
|
|
R7087:BC030500
|
UTSW |
8 |
59,365,388 (GRCm39) |
missense |
unknown |
|
|
R7252:BC030500
|
UTSW |
8 |
59,364,838 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8242:BC030500
|
UTSW |
8 |
59,365,388 (GRCm39) |
missense |
unknown |
|
|
R8243:BC030500
|
UTSW |
8 |
59,365,388 (GRCm39) |
missense |
unknown |
|
|
R8350:BC030500
|
UTSW |
8 |
59,365,388 (GRCm39) |
missense |
unknown |
|
|
R8725:BC030500
|
UTSW |
8 |
59,366,049 (GRCm39) |
missense |
unknown |
|
|
R8727:BC030500
|
UTSW |
8 |
59,366,049 (GRCm39) |
missense |
unknown |
|
|
R9120:BC030500
|
UTSW |
8 |
59,365,911 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation