Incidental Mutation 'R8078:Bcas1'
| ID |
629123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcas1
|
| Ensembl Gene |
ENSMUSG00000013523 |
| Gene Name |
brain enriched myelin associated protein 1 |
| Synonyms |
2210416M21Rik, NABC1, 9030223A09Rik, breast carcinoma amplified sequence 1 |
| MMRRC Submission |
067512-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8078 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
170188911-170269765 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 170260532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 49
(E49G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000013667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013667]
[ENSMUST00000068137]
[ENSMUST00000109152]
|
| AlphaFold |
Q80YN3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000013667
AA Change: E49G
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000013667
Gene: ENSMUSG00000013523
AA Change: E49G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
174 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
391 |
398 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
554 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068137
AA Change: E39G
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000069437
Gene: ENSMUSG00000013523
AA Change: E39G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
164 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
486 |
498 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109152
AA Change: E49G
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104780
Gene: ENSMUSG00000013523
AA Change: E49G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
174 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
508 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.9%
|
| Validation Efficiency |
100% (63/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene resides in a region at 20q13 which is amplified in a variety of tumor types and associated with more aggressive tumor phenotypes. Among the genes identified from this region, it was found to be highly expressed in three amplified breast cancer cell lines and in one breast tumor without amplification at 20q13.2. However, this gene is not in the common region of maximal amplification and its expression was not detected in the breast cancer cell line MCF7, in which this region is highly amplified. Although not consistently expressed, this gene is a candidate oncogene. [provided by RefSeq, Apr 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,251,279 (GRCm39) |
V2884I |
probably benign |
Het |
| Actl10 |
T |
A |
2: 154,394,490 (GRCm39) |
N147K |
probably benign |
Het |
| Agpat2 |
C |
A |
2: 26,494,113 (GRCm39) |
C37F |
possibly damaging |
Het |
| Alb |
G |
C |
5: 90,615,214 (GRCm39) |
R242P |
probably damaging |
Het |
| Ankrd26 |
T |
A |
6: 118,494,854 (GRCm39) |
|
probably null |
Het |
| Birc2 |
A |
G |
9: 7,858,742 (GRCm39) |
V331A |
probably damaging |
Het |
| Cadm3 |
A |
G |
1: 173,168,626 (GRCm39) |
V314A |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,408,749 (GRCm39) |
V2407A |
probably benign |
Het |
| Chd5 |
C |
A |
4: 152,445,448 (GRCm39) |
N446K |
possibly damaging |
Het |
| Clec9a |
A |
G |
6: 129,385,996 (GRCm39) |
S27G |
probably benign |
Het |
| Coro1c |
G |
T |
5: 114,020,164 (GRCm39) |
A17E |
probably damaging |
Het |
| Cspg4 |
T |
C |
9: 56,797,543 (GRCm39) |
S1336P |
possibly damaging |
Het |
| Ddx55 |
G |
A |
5: 124,704,451 (GRCm39) |
V353M |
probably damaging |
Het |
| Farp1 |
T |
A |
14: 121,513,712 (GRCm39) |
S836T |
probably benign |
Het |
| Fbll1 |
G |
T |
11: 35,688,728 (GRCm39) |
D178E |
probably benign |
Het |
| Flg2 |
T |
G |
3: 93,107,582 (GRCm39) |
D22E |
probably damaging |
Het |
| Glis1 |
T |
A |
4: 107,425,099 (GRCm39) |
C237S |
probably damaging |
Het |
| Gm5519 |
T |
C |
19: 33,800,357 (GRCm39) |
V17A |
possibly damaging |
Het |
| Gucy2c |
C |
A |
6: 136,674,919 (GRCm39) |
G1055C |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,235,333 (GRCm39) |
Y123H |
probably damaging |
Het |
| Idh1 |
T |
A |
1: 65,200,225 (GRCm39) |
I380F |
probably damaging |
Het |
| Il23r |
A |
T |
6: 67,400,577 (GRCm39) |
N584K |
probably damaging |
Het |
| Irag1 |
T |
C |
7: 110,498,942 (GRCm39) |
E363G |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,098,289 (GRCm39) |
T1829S |
|
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Luzp2 |
T |
A |
7: 54,702,510 (GRCm39) |
Y24* |
probably null |
Het |
| Masp2 |
A |
T |
4: 148,698,235 (GRCm39) |
T439S |
probably benign |
Het |
| Meioc |
G |
A |
11: 102,559,226 (GRCm39) |
W49* |
probably null |
Het |
| Mtor |
T |
G |
4: 148,552,744 (GRCm39) |
I749S |
probably benign |
Het |
| Myo16 |
T |
A |
8: 10,612,078 (GRCm39) |
V1241D |
unknown |
Het |
| Ncam2 |
G |
T |
16: 81,240,136 (GRCm39) |
R199L |
possibly damaging |
Het |
| Nyap2 |
A |
G |
1: 81,218,772 (GRCm39) |
S265G |
possibly damaging |
Het |
| Or4f15 |
T |
A |
2: 111,813,615 (GRCm39) |
D268V |
probably damaging |
Het |
| Parp8 |
A |
T |
13: 117,061,519 (GRCm39) |
F175I |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,022,054 (GRCm39) |
T823A |
|
Het |
| Phc2 |
T |
A |
4: 128,604,855 (GRCm39) |
I197N |
probably damaging |
Het |
| Plaat3 |
C |
T |
19: 7,556,526 (GRCm39) |
T109I |
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,750,107 (GRCm39) |
I518M |
probably benign |
Het |
| Prg2 |
T |
A |
2: 84,812,604 (GRCm39) |
C105S |
probably benign |
Het |
| Rab39 |
A |
G |
9: 53,617,255 (GRCm39) |
L54P |
possibly damaging |
Het |
| Rell1 |
T |
A |
5: 64,097,064 (GRCm39) |
|
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Slc4a4 |
T |
C |
5: 89,327,566 (GRCm39) |
Y668H |
probably benign |
Het |
| Sncg |
C |
A |
14: 34,096,727 (GRCm39) |
|
probably benign |
Het |
| Spata31d1b |
A |
G |
13: 59,863,263 (GRCm39) |
D137G |
probably damaging |
Het |
| Tas1r1 |
C |
T |
4: 152,112,803 (GRCm39) |
G750D |
probably damaging |
Het |
| Tcea3 |
A |
T |
4: 135,981,825 (GRCm39) |
D61V |
probably damaging |
Het |
| Tfap2c |
T |
A |
2: 172,393,392 (GRCm39) |
H102Q |
probably damaging |
Het |
| Tmem150a |
T |
A |
6: 72,335,306 (GRCm39) |
L95H |
probably damaging |
Het |
| Tnfrsf11a |
A |
T |
1: 105,745,409 (GRCm39) |
D149V |
probably damaging |
Het |
| Tsc22d2 |
C |
A |
3: 58,323,453 (GRCm39) |
A115E |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,810,507 (GRCm39) |
F431Y |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r85 |
C |
A |
10: 130,265,364 (GRCm39) |
E40* |
probably null |
Het |
| Zfp606 |
G |
A |
7: 12,214,942 (GRCm39) |
A57T |
possibly damaging |
Het |
| Zfp760 |
T |
C |
17: 21,942,436 (GRCm39) |
V537A |
probably benign |
Het |
|
| Other mutations in Bcas1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01647:Bcas1
|
APN |
2 |
170,191,172 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01714:Bcas1
|
APN |
2 |
170,226,102 (GRCm39) |
splice site |
probably benign |
|
|
IGL02267:Bcas1
|
APN |
2 |
170,220,708 (GRCm39) |
nonsense |
probably null |
|
|
IGL02486:Bcas1
|
APN |
2 |
170,248,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03328:Bcas1
|
APN |
2 |
170,208,316 (GRCm39) |
nonsense |
probably null |
|
|
R0335:Bcas1
|
UTSW |
2 |
170,260,601 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1458:Bcas1
|
UTSW |
2 |
170,229,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1463:Bcas1
|
UTSW |
2 |
170,260,584 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1467:Bcas1
|
UTSW |
2 |
170,229,852 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1467:Bcas1
|
UTSW |
2 |
170,229,852 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1507:Bcas1
|
UTSW |
2 |
170,208,348 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1645:Bcas1
|
UTSW |
2 |
170,229,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1654:Bcas1
|
UTSW |
2 |
170,191,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1911:Bcas1
|
UTSW |
2 |
170,229,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1990:Bcas1
|
UTSW |
2 |
170,212,397 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2017:Bcas1
|
UTSW |
2 |
170,190,081 (GRCm39) |
splice site |
probably null |
|
|
R4119:Bcas1
|
UTSW |
2 |
170,220,735 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4181:Bcas1
|
UTSW |
2 |
170,260,547 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4302:Bcas1
|
UTSW |
2 |
170,260,547 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4497:Bcas1
|
UTSW |
2 |
170,248,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4670:Bcas1
|
UTSW |
2 |
170,226,245 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4671:Bcas1
|
UTSW |
2 |
170,226,245 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4914:Bcas1
|
UTSW |
2 |
170,220,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Bcas1
|
UTSW |
2 |
170,220,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Bcas1
|
UTSW |
2 |
170,220,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Bcas1
|
UTSW |
2 |
170,220,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5155:Bcas1
|
UTSW |
2 |
170,260,538 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5354:Bcas1
|
UTSW |
2 |
170,191,316 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5686:Bcas1
|
UTSW |
2 |
170,248,730 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7566:Bcas1
|
UTSW |
2 |
170,212,369 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7736:Bcas1
|
UTSW |
2 |
170,229,084 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7816:Bcas1
|
UTSW |
2 |
170,248,347 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7850:Bcas1
|
UTSW |
2 |
170,190,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8350:Bcas1
|
UTSW |
2 |
170,248,220 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8530:Bcas1
|
UTSW |
2 |
170,229,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9083:Bcas1
|
UTSW |
2 |
170,190,081 (GRCm39) |
splice site |
probably benign |
|
|
R9272:Bcas1
|
UTSW |
2 |
170,190,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9469:Bcas1
|
UTSW |
2 |
170,191,292 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGCGTATAAGCACCCAG -3'
(R):5'- AGAGAGTCATTTTGCTACCGGAAG -3'
Sequencing Primer
(F):5'- CGTATAAGCACCCAGTGTGG -3'
(R):5'- GCTGGCAGTTTCTATAAACACGGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation