Incidental Mutation 'IGL00583:Borcs8'
| ID |
13247 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Borcs8
|
| Ensembl Gene |
ENSMUSG00000002345 |
| Gene Name |
BLOC-1 related complex subunit 8 |
| Synonyms |
2310045N01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL00583
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70592149-70599969 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70597757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 93
(H93R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002418]
[ENSMUST00000110139]
[ENSMUST00000123760]
[ENSMUST00000129668]
[ENSMUST00000163756]
|
| AlphaFold |
Q9D6Y4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002418
AA Change: H100R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000002418
Gene: ENSMUSG00000002345
AA Change: H100R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NEP
|
1 |
119 |
1.7e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110139
AA Change: H93R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000105766
Gene: ENSMUSG00000002345
AA Change: H93R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NEP
|
1 |
107 |
2.1e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123760
|
| SMART Domains |
Protein: ENSMUSP00000118102
Gene: ENSMUSG00000002345
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NEP
|
1 |
78 |
2.4e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123976
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129668
|
| SMART Domains |
Protein: ENSMUSP00000137694
Gene: ENSMUSG00000002345
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NEP
|
1 |
78 |
2.4e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163756
|
| SMART Domains |
Protein: ENSMUSP00000132314
Gene: ENSMUSG00000079033
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
3.15e-34 |
SMART |
|
low complexity region
|
97 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
297 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
335 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
C |
T |
13: 104,433,726 (GRCm39) |
Q52* |
probably null |
Het |
| Ambp |
G |
T |
4: 63,072,255 (GRCm39) |
A13D |
possibly damaging |
Het |
| Angptl3 |
A |
G |
4: 98,923,077 (GRCm39) |
T283A |
probably damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,094,205 (GRCm39) |
|
probably benign |
Het |
| Bzw1 |
T |
C |
1: 58,440,494 (GRCm39) |
|
probably benign |
Het |
| Cd200 |
A |
C |
16: 45,217,472 (GRCm39) |
I73R |
probably damaging |
Het |
| Coq8a |
T |
C |
1: 179,995,954 (GRCm39) |
D528G |
probably benign |
Het |
| Edem1 |
T |
A |
6: 108,832,520 (GRCm39) |
|
probably benign |
Het |
| Enpp5 |
C |
T |
17: 44,396,088 (GRCm39) |
|
probably benign |
Het |
| Eprs1 |
G |
T |
1: 185,139,345 (GRCm39) |
C910F |
probably benign |
Het |
| Erich6 |
T |
C |
3: 58,544,464 (GRCm39) |
E41G |
unknown |
Het |
| Gls2 |
A |
G |
10: 128,040,751 (GRCm39) |
M340V |
probably benign |
Het |
| Gna12 |
A |
T |
5: 140,746,773 (GRCm39) |
V224E |
probably damaging |
Het |
| Golph3l |
T |
C |
3: 95,496,414 (GRCm39) |
L46P |
possibly damaging |
Het |
| Limch1 |
T |
C |
5: 67,111,022 (GRCm39) |
I83T |
probably damaging |
Het |
| Mas1 |
T |
C |
17: 13,060,852 (GRCm39) |
I190M |
possibly damaging |
Het |
| Mefv |
T |
A |
16: 3,533,936 (GRCm39) |
K112* |
probably null |
Het |
| Oas1e |
T |
A |
5: 120,932,337 (GRCm39) |
E102V |
probably damaging |
Het |
| Pde6a |
T |
C |
18: 61,390,339 (GRCm39) |
C521R |
probably damaging |
Het |
| Pigw |
A |
G |
11: 84,768,714 (GRCm39) |
V205A |
possibly damaging |
Het |
| Ptpn21 |
G |
A |
12: 98,699,860 (GRCm39) |
S18F |
probably damaging |
Het |
| Shprh |
C |
T |
10: 11,063,764 (GRCm39) |
T1279I |
probably benign |
Het |
| Slc11a2 |
T |
C |
15: 100,295,618 (GRCm39) |
E501G |
probably benign |
Het |
| Sult2a3 |
T |
A |
7: 13,856,905 (GRCm39) |
Y5F |
probably benign |
Het |
| Tll1 |
A |
G |
8: 64,658,326 (GRCm39) |
L31P |
probably benign |
Het |
| Tubgcp3 |
G |
A |
8: 12,671,906 (GRCm39) |
Q779* |
probably null |
Het |
| U2surp |
T |
A |
9: 95,343,577 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Borcs8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01311:Borcs8
|
APN |
8 |
70,617,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02090:Borcs8
|
APN |
8 |
70,619,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02178:Borcs8
|
APN |
8 |
70,617,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02690:Borcs8
|
APN |
8 |
70,617,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Borcs8
|
UTSW |
8 |
70,593,017 (GRCm39) |
unclassified |
probably benign |
|
|
R5061:Borcs8
|
UTSW |
8 |
70,593,008 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9269:Borcs8
|
UTSW |
8 |
70,594,521 (GRCm39) |
missense |
probably benign |
0.31 |
|
Z1176:Borcs8
|
UTSW |
8 |
70,594,621 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2012-12-06 |
Incidental Mutation