Incidental Mutation 'R2284:Bcas2'
| ID |
243237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcas2
|
| Ensembl Gene |
ENSMUSG00000005687 |
| Gene Name |
BCAS2 pre-mRNA processing factor |
| Synonyms |
breast carcinoma amplified sequence 2, 6430539P16Rik, C76366 |
| MMRRC Submission |
040283-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R2284 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103078971-103086479 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103085678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 187
(S187P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005830]
[ENSMUST00000135017]
[ENSMUST00000155520]
|
| AlphaFold |
Q9D287 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005830
AA Change: S187P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005830
Gene: ENSMUSG00000005687
AA Change: S187P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCAS2
|
11 |
216 |
6.2e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135017
|
| SMART Domains |
Protein: ENSMUSP00000122413
Gene: ENSMUSG00000005687
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCAS2
|
6 |
77 |
2.8e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136937
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139489
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147042
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155520
|
| SMART Domains |
Protein: ENSMUSP00000116250
Gene: ENSMUSG00000005687
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCAS2
|
6 |
46 |
9e-10 |
PFAM |
|
low complexity region
|
52 |
66 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182561
|
| Meta Mutation Damage Score |
0.2613 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete lethality. Pups of dams homozygous for a conditional allele activated in oocytes exhibit lethality of pups associated with defects in DNA damage repair and DNA replication. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipoq |
C |
T |
16: 22,976,237 (GRCm39) |
Q213* |
probably null |
Het |
| Adsl |
C |
T |
15: 80,848,096 (GRCm39) |
P278L |
probably damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,444,099 (GRCm39) |
|
probably null |
Het |
| Cryzl1 |
C |
T |
16: 91,491,193 (GRCm39) |
|
probably benign |
Het |
| Csl |
T |
A |
10: 99,594,321 (GRCm39) |
D248V |
possibly damaging |
Het |
| Dip2a |
A |
C |
10: 76,149,027 (GRCm39) |
V247G |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,173,186 (GRCm39) |
D2509G |
probably damaging |
Het |
| Gldn |
G |
A |
9: 54,193,849 (GRCm39) |
W14* |
probably null |
Het |
| Gm5698 |
C |
T |
1: 31,016,964 (GRCm39) |
R29Q |
possibly damaging |
Het |
| Gm5830 |
A |
T |
1: 78,945,415 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2ird2 |
A |
G |
5: 134,246,025 (GRCm39) |
D761G |
probably benign |
Het |
| Hdac10 |
T |
C |
15: 89,011,607 (GRCm39) |
Q159R |
probably benign |
Het |
| Hhatl |
T |
C |
9: 121,618,648 (GRCm39) |
Y118C |
probably damaging |
Het |
| Iho1 |
C |
T |
9: 108,298,672 (GRCm39) |
E49K |
probably damaging |
Het |
| Klrd1 |
A |
G |
6: 129,575,344 (GRCm39) |
H127R |
probably benign |
Het |
| Krtap31-1 |
C |
T |
11: 99,799,081 (GRCm39) |
Q95* |
probably null |
Het |
| Map2 |
C |
T |
1: 66,453,227 (GRCm39) |
P548S |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,301,674 (GRCm39) |
V1120A |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,245,097 (GRCm39) |
M204K |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,217,837 (GRCm39) |
T2279A |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nlrp1b |
A |
G |
11: 71,047,110 (GRCm39) |
S1084P |
probably benign |
Het |
| Nr2f1 |
C |
A |
13: 78,343,581 (GRCm39) |
V81F |
probably damaging |
Het |
| Nrxn3 |
T |
A |
12: 89,477,135 (GRCm39) |
N803K |
probably damaging |
Het |
| Or5l14 |
A |
G |
2: 87,793,137 (GRCm39) |
L33P |
probably damaging |
Het |
| Ptpre |
A |
G |
7: 135,271,510 (GRCm39) |
H375R |
probably benign |
Het |
| Tsc1 |
G |
A |
2: 28,555,109 (GRCm39) |
V200I |
possibly damaging |
Het |
| Vmn1r42 |
A |
G |
6: 89,821,681 (GRCm39) |
I296T |
probably benign |
Het |
| Vmn1r67 |
A |
T |
7: 10,181,600 (GRCm39) |
H288L |
probably damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,488,765 (GRCm39) |
N88K |
probably benign |
Het |
| Wt1 |
A |
G |
2: 105,002,666 (GRCm39) |
T511A |
probably benign |
Het |
|
| Other mutations in Bcas2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01547:Bcas2
|
APN |
3 |
103,079,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02557:Bcas2
|
APN |
3 |
103,079,183 (GRCm39) |
unclassified |
probably benign |
|
|
R1911:Bcas2
|
UTSW |
3 |
103,079,113 (GRCm39) |
nonsense |
probably null |
|
|
R4574:Bcas2
|
UTSW |
3 |
103,081,666 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4676:Bcas2
|
UTSW |
3 |
103,083,017 (GRCm39) |
intron |
probably benign |
|
|
R5335:Bcas2
|
UTSW |
3 |
103,082,951 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5624:Bcas2
|
UTSW |
3 |
103,080,577 (GRCm39) |
missense |
probably benign |
|
|
R5633:Bcas2
|
UTSW |
3 |
103,085,740 (GRCm39) |
nonsense |
probably null |
|
|
R5723:Bcas2
|
UTSW |
3 |
103,084,608 (GRCm39) |
intron |
probably benign |
|
|
R6051:Bcas2
|
UTSW |
3 |
103,081,657 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6301:Bcas2
|
UTSW |
3 |
103,079,187 (GRCm39) |
unclassified |
probably benign |
|
|
R6444:Bcas2
|
UTSW |
3 |
103,079,362 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCATGAGACGATTGTTGGGTAAC -3'
(R):5'- TGTAACCACCACAGTCGCTC -3'
Sequencing Primer
(F):5'- TAATGCAGAGAGCCCCTGTGTAC -3'
(R):5'- AGTCGCTCCGAGAAAGTCC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation