Incidental Mutation 'IGL01454:BC004004'
| ID |
84729 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
BC004004
|
| Ensembl Gene |
ENSMUSG00000052712 |
| Gene Name |
cDNA sequence BC004004 |
| Synonyms |
2400006G15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL01454
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
29487762-29521862 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29512995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 140
(S140P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117309
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064709]
[ENSMUST00000120346]
[ENSMUST00000149405]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064709
AA Change: S140P
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000066224
Gene: ENSMUSG00000052712
AA Change: S140P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120346
AA Change: S140P
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113315
Gene: ENSMUSG00000052712
AA Change: S140P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149405
AA Change: S140P
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000117309
Gene: ENSMUSG00000052712
AA Change: S140P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150874
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]
|
| 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 |
| Cul3 |
T |
C |
1: 80,281,900 (GRCm39) |
D26G |
probably damaging |
Het |
| Dnah17 |
A |
T |
11: 117,949,223 (GRCm39) |
F2929I |
probably damaging |
Het |
| Gm21560 |
A |
G |
14: 6,216,286 (GRCm38) |
F186L |
probably benign |
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 BC004004 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01324:BC004004
|
APN |
17 |
29,501,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02437:BC004004
|
APN |
17 |
29,517,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0677:BC004004
|
UTSW |
17 |
29,517,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1440:BC004004
|
UTSW |
17 |
29,515,665 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3744:BC004004
|
UTSW |
17 |
29,520,423 (GRCm39) |
makesense |
probably null |
|
|
R4017:BC004004
|
UTSW |
17 |
29,517,706 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4417:BC004004
|
UTSW |
17 |
29,501,249 (GRCm39) |
splice site |
probably benign |
|
|
R4883:BC004004
|
UTSW |
17 |
29,501,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5071:BC004004
|
UTSW |
17 |
29,513,389 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5619:BC004004
|
UTSW |
17 |
29,501,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5768:BC004004
|
UTSW |
17 |
29,501,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5846:BC004004
|
UTSW |
17 |
29,501,282 (GRCm39) |
intron |
probably benign |
|
|
R6259:BC004004
|
UTSW |
17 |
29,517,686 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8087:BC004004
|
UTSW |
17 |
29,513,064 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9015:BC004004
|
UTSW |
17 |
29,517,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9022:BC004004
|
UTSW |
17 |
29,501,130 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9308:BC004004
|
UTSW |
17 |
29,513,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9328:BC004004
|
UTSW |
17 |
29,501,682 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
RF012:BC004004
|
UTSW |
17 |
29,501,782 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2013-11-11 |
Incidental Mutation