Incidental Mutation 'R0686:Bsx'
| ID |
61175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bsx
|
| Ensembl Gene |
ENSMUSG00000054360 |
| Gene Name |
brain specific homeobox |
| Synonyms |
Bsx1a, Bsx1b |
| MMRRC Submission |
038871-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0686 (G1)
|
| Quality Score |
87 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
40785423-40791353 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 40787733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 136
(S136A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067375]
|
| AlphaFold |
Q810B3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067375
AA Change: S136A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068057
Gene: ENSMUSG00000054360
AA Change: S136A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
81 |
N/A |
INTRINSIC |
|
HOX
|
110 |
172 |
2.64e-26 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for mutations in Bsx display increased fat mass, decreased food intake after fasting, decreased body temperature, and reduced locomotor activity, but body weight and glucose homoeostasis are similar to wild-type. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
C |
T |
5: 138,562,799 (GRCm39) |
E42K |
possibly damaging |
Het |
| Arhgef12 |
A |
C |
9: 42,904,324 (GRCm39) |
L718R |
probably benign |
Het |
| Ccne2 |
T |
A |
4: 11,197,220 (GRCm39) |
M174K |
possibly damaging |
Het |
| Ces1a |
A |
G |
8: 93,749,077 (GRCm39) |
Y445H |
probably damaging |
Het |
| Ckb |
A |
G |
12: 111,636,627 (GRCm39) |
V249A |
probably benign |
Het |
| Crybg2 |
TGGAGGAGGAGGAGGAGGAG |
TGGAGGAGGAGGAGGAG |
4: 133,801,837 (GRCm39) |
|
probably benign |
Het |
| Cyp2r1 |
T |
G |
7: 114,151,246 (GRCm39) |
M358L |
possibly damaging |
Het |
| Dnah10 |
T |
C |
5: 124,824,782 (GRCm39) |
I646T |
possibly damaging |
Het |
| Eeig2 |
G |
A |
3: 108,900,001 (GRCm39) |
R116C |
probably damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,480,449 (GRCm39) |
D563E |
probably benign |
Het |
| Fhip1b |
G |
T |
7: 105,037,516 (GRCm39) |
L356I |
probably damaging |
Het |
| Fpr-rs4 |
A |
C |
17: 18,242,613 (GRCm39) |
I207L |
probably benign |
Het |
| Fus |
G |
A |
7: 127,571,935 (GRCm39) |
|
probably benign |
Het |
| Ireb2 |
A |
T |
9: 54,811,460 (GRCm39) |
I755L |
probably benign |
Het |
| Kctd9 |
A |
G |
14: 67,966,185 (GRCm39) |
T101A |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,570,811 (GRCm39) |
S1R |
possibly damaging |
Het |
| Ltbr |
T |
C |
6: 125,285,024 (GRCm39) |
D292G |
possibly damaging |
Het |
| Med1 |
G |
A |
11: 98,049,230 (GRCm39) |
T507I |
probably damaging |
Het |
| Msh3 |
G |
A |
13: 92,487,939 (GRCm39) |
P93S |
possibly damaging |
Het |
| Or2ag1 |
A |
T |
7: 106,313,585 (GRCm39) |
M101K |
probably damaging |
Het |
| Or8g37 |
A |
C |
9: 39,730,964 (GRCm39) |
T10P |
probably damaging |
Het |
| Paqr5 |
T |
G |
9: 61,880,076 (GRCm39) |
T59P |
probably benign |
Het |
| Pih1d1 |
T |
A |
7: 44,805,753 (GRCm39) |
L74* |
probably null |
Het |
| Prim2 |
T |
C |
1: 33,553,270 (GRCm39) |
T264A |
probably benign |
Het |
| Prss59 |
G |
A |
6: 40,905,452 (GRCm39) |
S68F |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,652,771 (GRCm39) |
S577P |
probably damaging |
Het |
| Simc1 |
T |
A |
13: 54,673,003 (GRCm39) |
S450R |
probably benign |
Het |
| Tdrd1 |
A |
T |
19: 56,844,483 (GRCm39) |
N796I |
probably damaging |
Het |
| Vmn1r214 |
T |
A |
13: 23,218,962 (GRCm39) |
I152N |
probably damaging |
Het |
|
| Other mutations in Bsx |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02318:Bsx
|
APN |
9 |
40,785,517 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02510:Bsx
|
APN |
9 |
40,785,517 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL03295:Bsx
|
APN |
9 |
40,785,743 (GRCm39) |
splice site |
probably benign |
|
|
R0507:Bsx
|
UTSW |
9 |
40,787,796 (GRCm39) |
splice site |
probably benign |
|
|
R3120:Bsx
|
UTSW |
9 |
40,788,908 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4155:Bsx
|
UTSW |
9 |
40,787,632 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5504:Bsx
|
UTSW |
9 |
40,785,460 (GRCm39) |
start gained |
probably benign |
|
|
R6328:Bsx
|
UTSW |
9 |
40,785,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8695:Bsx
|
UTSW |
9 |
40,785,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9097:Bsx
|
UTSW |
9 |
40,785,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9790:Bsx
|
UTSW |
9 |
40,788,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9791:Bsx
|
UTSW |
9 |
40,788,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Bsx
|
UTSW |
9 |
40,789,069 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCTTCCGGCTGTTATTGAGAGATG -3'
(R):5'- GCCGAATCAAAGTGATTTTCCCTCTCC -3'
Sequencing Primer
(F):5'- AGGATGCTTCCTCCGAATG -3'
(R):5'- CTGTCGGATCTTGGAAACATGC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation