Incidental Mutation 'R0335:Bcas1'
ID 26156
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 038544-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0335 (G1)
Quality Score 174
Status Validated
Chromosome 2
Chromosomal Location 170188911-170269765 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 170260601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 26 (T26M)
Ref Sequence ENSEMBL: ENSMUSP00000104780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013667] [ENSMUST00000068137] [ENSMUST00000109152]
AlphaFold Q80YN3
Predicted Effect probably damaging
Transcript: ENSMUST00000013667
AA Change: T26M

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000013667
Gene: ENSMUSG00000013523
AA Change: T26M

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
SMART Domains Protein: ENSMUSP00000069437
Gene: ENSMUSG00000013523

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 damaging
Transcript: ENSMUST00000109152
AA Change: T26M

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104780
Gene: ENSMUSG00000013523
AA Change: T26M

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 0.6467 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 94.6%
  • 20x: 87.5%
Validation Efficiency 100% (89/89)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 G T 15: 11,311,144 (GRCm39) D1134Y possibly damaging Het
Add3 A G 19: 53,225,259 (GRCm39) T460A probably benign Het
Amer3 A C 1: 34,618,381 (GRCm39) probably benign Het
Arhgap22 C T 14: 33,081,065 (GRCm39) probably benign Het
Arhgap32 T G 9: 32,171,056 (GRCm39) S1279A probably benign Het
Begain A T 12: 109,004,860 (GRCm39) F256I probably damaging Het
Bltp1 T C 3: 37,023,301 (GRCm39) V2210A probably damaging Het
Cabin1 A T 10: 75,492,883 (GRCm39) I1804N probably damaging Het
Cad G A 5: 31,231,329 (GRCm39) probably benign Het
Carmil1 G A 13: 24,257,966 (GRCm39) S762L probably damaging Het
Ccdc93 T A 1: 121,420,706 (GRCm39) L529Q probably damaging Het
Cdh12 T A 15: 21,578,635 (GRCm39) probably null Het
Cep15 A G 14: 12,301,266 (GRCm38) E124G possibly damaging Het
Clip2 T A 5: 134,564,069 (GRCm39) probably benign Het
Cmip T C 8: 118,172,105 (GRCm39) I480T probably damaging Het
Cnot1 A T 8: 96,498,628 (GRCm39) I203K probably benign Het
Col18a1 G A 10: 76,895,197 (GRCm39) P1155S probably damaging Het
Col1a2 T A 6: 4,531,956 (GRCm39) probably benign Het
Crybg3 A T 16: 59,364,503 (GRCm39) L2373Q probably damaging Het
D130043K22Rik A T 13: 25,071,860 (GRCm39) I935F probably damaging Het
Dapl1 T A 2: 59,326,938 (GRCm39) D61E possibly damaging Het
Def6 A G 17: 28,447,043 (GRCm39) D558G possibly damaging Het
Dnah6 T C 6: 73,046,382 (GRCm39) probably benign Het
Dvl2 G A 11: 69,891,861 (GRCm39) probably benign Het
Ecd A C 14: 20,370,802 (GRCm39) V639G probably benign Het
Epg5 C T 18: 78,029,687 (GRCm39) T1350M probably benign Het
Erbb4 C A 1: 68,298,418 (GRCm39) M657I probably benign Het
Evi5 T C 5: 107,960,277 (GRCm39) R431G probably benign Het
Fbxo11 G A 17: 88,323,041 (GRCm39) A115V possibly damaging Het
Fgfr2 T C 7: 129,797,979 (GRCm39) T192A probably benign Het
Gas7 C T 11: 67,552,878 (GRCm39) A146V possibly damaging Het
Gatad2b T A 3: 90,263,489 (GRCm39) S529T probably benign Het
Gm10722 G T 9: 3,001,048 (GRCm39) Q41H probably null Het
Gm10801 G C 2: 98,494,352 (GRCm39) R143T possibly damaging Het
Gm7535 A G 17: 18,131,374 (GRCm39) probably benign Het
Gstm1 T A 3: 107,920,012 (GRCm39) N193I possibly damaging Het
Heatr5b G A 17: 79,135,375 (GRCm39) P252L probably benign Het
Hmgb1 A G 5: 148,987,441 (GRCm39) V36A probably benign Het
Hrh1 G T 6: 114,457,193 (GRCm39) W158L probably damaging Het
Ighv6-4 T C 12: 114,370,294 (GRCm39) M53V probably benign Het
Iqgap2 T A 13: 95,772,141 (GRCm39) D1346V probably damaging Het
Kcng3 A T 17: 83,895,166 (GRCm39) N433K possibly damaging Het
Kif1a T A 1: 92,980,288 (GRCm39) probably benign Het
Lctl C A 9: 64,026,169 (GRCm39) Q75K probably benign Het
Ldb3 T A 14: 34,300,608 (GRCm39) I89F possibly damaging Het
Lrrc49 A T 9: 60,584,378 (GRCm39) L156Q probably damaging Het
Mark2 G T 19: 7,259,193 (GRCm39) T83K probably benign Het
Ms4a15 A T 19: 10,957,574 (GRCm39) D170E probably damaging Het
Msantd2 A G 9: 37,434,056 (GRCm39) S99G possibly damaging Het
Nemf G T 12: 69,400,577 (GRCm39) T124N probably benign Het
Nlrp9c A T 7: 26,093,561 (GRCm39) F35I possibly damaging Het
Nwd2 A G 5: 63,962,116 (GRCm39) I567V probably benign Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or11l3 T C 11: 58,516,566 (GRCm39) Y102C probably damaging Het
Or13p8 A G 4: 118,584,367 (GRCm39) I308V probably null Het
Or5v1b A C 17: 37,841,533 (GRCm39) I222L probably benign Het
Or7g16 T A 9: 18,727,290 (GRCm39) Q100L probably damaging Het
Pdk4 T C 6: 5,491,138 (GRCm39) E209G probably benign Het
Plch1 T C 3: 63,618,399 (GRCm39) Q712R probably damaging Het
Pnpla1 T A 17: 29,105,852 (GRCm39) V569E possibly damaging Het
Prkar2a A T 9: 108,596,457 (GRCm39) D134V probably damaging Het
Ptov1 T A 7: 44,514,046 (GRCm39) Q40L possibly damaging Het
Ptprq T C 10: 107,544,589 (GRCm39) I314V probably benign Het
Rabl2 T C 15: 89,468,169 (GRCm39) K66E probably damaging Het
Rnf38 A G 4: 44,152,507 (GRCm39) V19A possibly damaging Het
Scn2a T A 2: 65,512,435 (GRCm39) W191R probably damaging Het
Sec22b T A 3: 97,828,572 (GRCm39) F212I possibly damaging Het
Sec24c T A 14: 20,738,783 (GRCm39) probably null Het
Septin2 T C 1: 93,423,321 (GRCm39) S51P probably damaging Het
Serpinb1a T C 13: 33,032,639 (GRCm39) N90S probably damaging Het
Slc1a2 C T 2: 102,574,208 (GRCm39) T206I probably benign Het
Slc25a19 C A 11: 115,515,032 (GRCm39) R42L probably damaging Het
St14 G A 9: 31,002,620 (GRCm39) probably benign Het
Stxbp1 C T 2: 32,692,917 (GRCm39) probably benign Het
Tas2r131 C T 6: 132,934,792 (GRCm39) V6I probably benign Het
Tdo2 T A 3: 81,871,307 (GRCm39) M235L probably benign Het
Tenm3 T G 8: 48,685,140 (GRCm39) H2432P probably damaging Het
Tmprss15 C T 16: 78,821,630 (GRCm39) probably benign Het
Tmx1 A G 12: 70,500,030 (GRCm39) N30D probably benign Het
Tom1 A G 8: 75,791,020 (GRCm39) probably null Het
Top2a T C 11: 98,913,781 (GRCm39) N20S probably benign Het
Ttc23l T A 15: 10,540,049 (GRCm39) T145S probably benign Het
Unc13b T A 4: 43,236,983 (GRCm39) M3351K possibly damaging Het
Vmn1r47 T C 6: 89,999,641 (GRCm39) S258P probably damaging Het
Vmn2r8 T G 5: 108,945,317 (GRCm39) probably null Het
Vps11 T C 9: 44,265,135 (GRCm39) Q641R probably null Het
Wapl T A 14: 34,414,281 (GRCm39) I381N probably damaging Het
Zmym6 G A 4: 127,016,601 (GRCm39) G794E probably damaging 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
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
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'- AGCTTCCAGCGTATAAGCACCCAG -3'
(R):5'- GCCTGAGAGAGTCATTTTGCTACCG -3'

Sequencing Primer
(F):5'- gccaccccagggaataaatac -3'
(R):5'- CATTTTGCTACCGGAAGGC -3'
Posted On 2013-04-16