Incidental Mutation 'R4181:Bcas1'
ID 319722
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 041017-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4181 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 170188911-170269765 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 170260547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 44 (V44A)
Ref Sequence ENSEMBL: ENSMUSP00000104780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013667] [ENSMUST00000068137] [ENSMUST00000109152]
AlphaFold Q80YN3
Predicted Effect probably benign
Transcript: ENSMUST00000013667
AA Change: V44A

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000013667
Gene: ENSMUSG00000013523
AA Change: V44A

DomainStartEndE-ValueType
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: V34A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000069437
Gene: ENSMUSG00000013523
AA Change: V34A

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000109152
AA Change: V44A

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000104780
Gene: ENSMUSG00000013523
AA Change: V44A

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145920
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 92% (48/52)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T C 3: 116,540,279 (GRCm39) Y1445C probably damaging Het
Arhgap12 T C 18: 6,111,734 (GRCm39) D210G probably damaging Het
Atp11b A G 3: 35,854,714 (GRCm39) K284R probably benign Het
Atp11b A G 3: 35,843,707 (GRCm39) T185A probably damaging Het
Carmil3 G A 14: 55,741,412 (GRCm39) D1066N probably benign Het
Cfap251 T C 5: 123,431,873 (GRCm39) I549T probably benign Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Clic4 A G 4: 134,953,350 (GRCm39) V98A probably benign Het
Cmpk2 T C 12: 26,527,046 (GRCm39) V345A probably damaging Het
Col6a3 A T 1: 90,735,336 (GRCm39) I771N probably damaging Het
Cyp2d34 A T 15: 82,501,486 (GRCm39) probably null Het
Cyp7a1 C T 4: 6,271,205 (GRCm39) G317E probably benign Het
Ddx1 A T 12: 13,281,504 (GRCm39) L353* probably null Het
Dnhd1 T A 7: 105,343,161 (GRCm39) W1502R probably damaging Het
Drc1 T C 5: 30,513,057 (GRCm39) V377A probably benign Het
Fyb1 A G 15: 6,610,404 (GRCm39) N326D probably benign Het
Gapdh C T 6: 125,142,197 (GRCm39) probably benign Het
Gm973 A G 1: 59,590,399 (GRCm39) Y302C possibly damaging Het
Grsf1 G A 5: 88,812,015 (GRCm39) P271S probably benign Het
Gtpbp3 C T 8: 71,944,111 (GRCm39) T285I probably damaging Het
Hnrnpul1 T C 7: 25,426,237 (GRCm39) D538G probably damaging Het
Kif26b G A 1: 178,742,991 (GRCm39) S582N probably damaging Het
Lgals4 T C 7: 28,535,437 (GRCm39) V107A possibly damaging Het
Lmbr1l A T 15: 98,806,601 (GRCm39) L270Q possibly damaging Het
Loxl4 T A 19: 42,596,030 (GRCm39) Y141F probably benign Het
Lpcat3 C T 6: 124,680,187 (GRCm39) probably benign Het
Lrp1b G A 2: 40,501,446 (GRCm39) T219I probably damaging Het
Man2a2 T A 7: 80,001,487 (GRCm39) E1140V possibly damaging Het
Mapk8 T C 14: 33,104,177 (GRCm39) D413G probably damaging Het
Or11h4b C G 14: 50,918,507 (GRCm39) E195Q probably benign Het
Or7g30 C T 9: 19,353,031 (GRCm39) A274V possibly damaging Het
Or8k53 A T 2: 86,177,581 (GRCm39) H176Q probably damaging Het
Pdss1 T C 2: 22,805,517 (GRCm39) I265T probably damaging Het
Piezo2 T C 18: 63,257,801 (GRCm39) probably null Het
Rad50 T A 11: 53,592,832 (GRCm39) N106I probably benign Het
Rbbp6 A G 7: 122,593,958 (GRCm39) Y568C probably damaging Het
Rorc G A 3: 94,294,500 (GRCm39) C33Y probably damaging Het
Ssc4d T C 5: 135,990,778 (GRCm39) E470G possibly damaging Het
Tnxb T G 17: 34,928,428 (GRCm39) V2614G possibly damaging Het
Trip11 A T 12: 101,860,027 (GRCm39) D282E probably damaging Het
Ttn G T 2: 76,706,811 (GRCm39) probably benign Het
Vangl1 A T 3: 102,073,097 (GRCm39) probably benign Het
Wiz T C 17: 32,586,959 (GRCm39) E117G probably damaging Het
Zfp982 A G 4: 147,597,150 (GRCm39) K169R probably benign Het
Other mutations in Bcas1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R8078:Bcas1 UTSW 2 170,260,532 (GRCm39) missense possibly damaging 0.87
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'- TTCCAGCGTATAAGCACCCAG -3'
(R):5'- GAGAGTCATTTTGCTACCGGAAG -3'

Sequencing Primer
(F):5'- CGTATAAGCACCCAGTGTGG -3'
(R):5'- GGAAGCTGGCAGTTTCTATAAACAC -3'
Posted On 2015-06-10