Incidental Mutation 'IGL03328:Bcas1'
ID 416747
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcas1
Ensembl Gene ENSMUSG00000013523
Gene Name brain enriched myelin associated protein 1
Synonyms 2210416M21Rik, NABC1, 9030223A09Rik, breast carcinoma amplified sequence 1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03328
Quality Score
Status
Chromosome 2
Chromosomal Location 170188911-170269765 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 170208316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 437 (K437*)
Ref Sequence ENSEMBL: ENSMUSP00000104780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013667] [ENSMUST00000068137] [ENSMUST00000109152]
AlphaFold Q80YN3
Predicted Effect probably null
Transcript: ENSMUST00000013667
AA Change: K483*
SMART Domains Protein: ENSMUSP00000013667
Gene: ENSMUSG00000013523
AA Change: K483*

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 null
Transcript: ENSMUST00000068137
AA Change: K427*
SMART Domains Protein: ENSMUSP00000069437
Gene: ENSMUSG00000013523
AA Change: K427*

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 null
Transcript: ENSMUST00000109152
AA Change: K437*
SMART Domains Protein: ENSMUSP00000104780
Gene: ENSMUSG00000013523
AA Change: K437*

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: ENSMUST00000131931
Predicted Effect probably benign
Transcript: ENSMUST00000154650
SMART Domains Protein: ENSMUSP00000122298
Gene: ENSMUSG00000013523

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
low complexity region 136 152 N/A INTRINSIC
low complexity region 228 235 N/A INTRINSIC
low complexity region 288 300 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,211,355 (GRCm39) M1556L probably benign Het
Aicda T G 6: 122,539,396 (GRCm39) D187E probably benign Het
Arfgap3 A C 15: 83,227,282 (GRCm39) F43L probably damaging Het
AW551984 T C 9: 39,508,412 (GRCm39) E368G probably damaging Het
Bbs4 T C 9: 59,251,401 (GRCm39) E33G probably damaging Het
Brwd1 A T 16: 95,803,925 (GRCm39) W2082R probably damaging Het
Card6 A T 15: 5,134,927 (GRCm39) probably benign Het
Cd200r4 A G 16: 44,653,882 (GRCm39) I226M possibly damaging Het
Cep57l1 T C 10: 41,619,148 (GRCm39) E73G probably damaging Het
Chaf1a T G 17: 56,370,374 (GRCm39) F613C probably damaging Het
Clybl G T 14: 122,639,406 (GRCm39) K323N probably damaging Het
Coa7 A G 4: 108,195,479 (GRCm39) D136G probably damaging Het
Col5a2 C A 1: 45,415,306 (GRCm39) V1478L possibly damaging Het
Ctnnd2 T C 15: 30,921,993 (GRCm39) probably benign Het
Cyp4f17 T G 17: 32,739,600 (GRCm39) M174R probably damaging Het
Dnah10 A T 5: 124,831,354 (GRCm39) D794V probably benign Het
Eapp A G 12: 54,738,878 (GRCm39) S87P probably benign Het
Efnb3 A G 11: 69,448,031 (GRCm39) I137T probably damaging Het
Eif4e T A 3: 138,259,488 (GRCm39) probably benign Het
Fam83b T A 9: 76,400,324 (GRCm39) I260L probably benign Het
Fras1 A G 5: 96,929,619 (GRCm39) T4008A probably damaging Het
Fut8 A T 12: 77,412,003 (GRCm39) R118W probably damaging Het
Glt1d1 A C 5: 127,734,183 (GRCm39) D119A probably benign Het
Gm3727 T A 14: 7,261,685 (GRCm38) *206C probably null Het
Gmip G A 8: 70,264,261 (GRCm39) V174M possibly damaging Het
Gtf2ird1 A G 5: 134,417,983 (GRCm39) probably null Het
Haao C T 17: 84,154,078 (GRCm39) C23Y probably damaging Het
Hip1 A T 5: 135,453,728 (GRCm39) V400E probably damaging Het
Keg1 A G 19: 12,696,461 (GRCm39) N215S probably damaging Het
Lss T G 10: 76,376,785 (GRCm39) I334S probably damaging Het
Lyn A C 4: 3,745,327 (GRCm39) E77D probably benign Het
Myo3a A G 2: 22,468,210 (GRCm39) E1426G probably benign Het
Ncapg2 A G 12: 116,403,677 (GRCm39) E863G possibly damaging Het
Ncl T C 1: 86,280,319 (GRCm39) Y496C probably damaging Het
Nefm A T 14: 68,358,739 (GRCm39) S432T probably benign Het
Nipsnap1 A G 11: 4,834,096 (GRCm39) Y95C possibly damaging Het
Npc1l1 C A 11: 6,168,643 (GRCm39) E913* probably null Het
Nup205 T C 6: 35,209,349 (GRCm39) L1552P probably damaging Het
Or2t46 A G 11: 58,472,539 (GRCm39) N290D probably damaging Het
Or4c112 G T 2: 88,854,199 (GRCm39) Y49* probably null Het
Or52h7 T A 7: 104,213,677 (GRCm39) V83D probably damaging Het
Or7c70 C T 10: 78,683,201 (GRCm39) E183K probably benign Het
Osm A C 11: 4,188,426 (GRCm39) I18L unknown Het
Otoa T A 7: 120,710,217 (GRCm39) S254R probably damaging Het
Parp1 T C 1: 180,427,155 (GRCm39) probably benign Het
Pcdh17 A G 14: 84,770,551 (GRCm39) I1010V probably benign Het
Peli2 A T 14: 48,490,032 (GRCm39) probably null Het
Pkd1l3 T G 8: 110,388,738 (GRCm39) probably benign Het
Pkhd1 A G 1: 20,151,524 (GRCm39) probably benign Het
Polg2 A C 11: 106,659,163 (GRCm39) V450G probably benign Het
Potegl A T 2: 23,102,817 (GRCm39) Y185F possibly damaging Het
Ptpn13 A T 5: 103,664,214 (GRCm39) T401S probably benign Het
Rgs22 C T 15: 36,043,350 (GRCm39) probably null Het
Rttn T G 18: 89,061,152 (GRCm39) S1107A probably benign Het
Scn5a G T 9: 119,366,702 (GRCm39) N328K probably benign Het
Sned1 G A 1: 93,217,089 (GRCm39) A1325T probably benign Het
St8sia4 T A 1: 95,588,595 (GRCm39) E80V probably benign Het
Stard7 T C 2: 127,134,176 (GRCm39) probably benign Het
Suco G T 1: 161,647,990 (GRCm39) P1099T probably damaging Het
Syn2 G T 6: 115,251,221 (GRCm39) C459F probably damaging Het
Tas2r117 A C 6: 132,780,041 (GRCm39) I60L probably benign Het
Tomm70a T C 16: 56,965,150 (GRCm39) C445R probably damaging Het
Tpsab1 T A 17: 25,564,102 (GRCm39) D87V probably benign Het
Trgc4 A G 13: 19,536,416 (GRCm39) Y158C unknown Het
Trpm6 A T 19: 18,815,446 (GRCm39) E1177D possibly damaging Het
Vmn2r71 A T 7: 85,273,499 (GRCm39) D771V probably damaging Het
Vmn2r93 A T 17: 18,525,220 (GRCm39) T293S 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
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
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
Posted On 2016-08-02