Mutagenetix > Incidental Mutation

Incidental Mutation 'R5686:Bcas1'

443340

Institutional Source

Beutler Lab

Gene Symbol

Bcas1

Ensembl Gene

ENSMUSG00000013523

Gene Name

breast carcinoma amplified sequence 1

Synonyms

9030223A09Rik, 2210416M21Rik, NABC1

MMRRC Submission

043319-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

170346991-170427845 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 170406810 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 64 (T64A)

Ref Sequence

ENSEMBL: ENSMUSP00000013667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013667] [ENSMUST00000068137] [ENSMUST00000109152]

AlphaFold

Q80YN3

Predicted Effect

probably benign
Transcript: ENSMUST00000013667
AA Change: T64A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000013667
Gene: ENSMUSG00000013523
AA Change: T64A

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: T54A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000069437
Gene: ENSMUSG00000013523
AA Change: T54A

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

probably benign
Transcript: ENSMUST00000109152
AA Change: T64A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000104780
Gene: ENSMUSG00000013523
AA Change: T64A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133586

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145920

Predicted Effect

probably benign
Transcript: ENSMUST00000154650

SMART Domains

Protein: ENSMUSP00000122298
Gene: ENSMUSG00000013523

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0751

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (73/75)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,303,314	E839G	possibly damaging	Het
2410141K09Rik	T	C	13: 66,431,663	R254G	probably benign	Het
4932438A13Rik	T	A	3: 36,917,660	F514Y	probably benign	Het
Adgrf3	T	A	5: 30,197,306	T575S	probably damaging	Het
Akap9	T	A	5: 3,971,926	C1158S	probably benign	Het
Arhgap39	A	G	15: 76,726,633	F926L	probably damaging	Het
BC035947	G	T	1: 78,497,930	T655K	probably benign	Het
Brca2	A	G	5: 150,540,904	K1378E	probably benign	Het
Card6	A	T	15: 5,100,953	N320K	probably damaging	Het
Ccdc3	A	T	2: 5,138,060	I43F	probably damaging	Het
Cd200r1	T	C	16: 44,790,164	S212P	probably damaging	Het
Cdh8	T	C	8: 99,033,222	I632V	probably benign	Het
Col25a1	A	G	3: 130,564,154	E477G	probably damaging	Het
Cpne5	A	T	17: 29,184,017	C215S	possibly damaging	Het
Crim1	T	A	17: 78,374,083	S989T	possibly damaging	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Dync1h1	T	A	12: 110,616,404	N340K	probably benign	Het
Eif4e2	G	A	1: 87,226,238		probably null	Het
Ephb6	G	T	6: 41,619,704	R895L	possibly damaging	Het
Esrrg	T	A	1: 188,150,198	H217Q	probably benign	Het
Fgl1	T	A	8: 41,200,557	K100*	probably null	Het
Flt4	T	C	11: 49,630,603	V450A	probably benign	Het
G6pc2	A	T	2: 69,220,784	I74L	probably benign	Het
Gabrr1	T	C	4: 33,161,684	M336T	probably damaging	Het
Gli1	T	A	10: 127,337,436	T118S	probably benign	Het
Gm5435	A	T	12: 82,496,026		noncoding transcript	Het
Got1l1	A	G	8: 27,198,059	L314P	probably damaging	Het
Hk3	T	A	13: 55,006,813	I740F	probably damaging	Het
Htr7	C	A	19: 35,969,871	A248S	probably damaging	Het
Igsf9b	A	G	9: 27,324,179	T508A	probably damaging	Het
Il16	T	A	7: 83,648,728	N431I	probably benign	Het
Lax1	G	A	1: 133,680,176	P276S	probably damaging	Het
Lrp2	A	T	2: 69,511,061	V925E	possibly damaging	Het
Lrp3	T	A	7: 35,203,485	T479S	possibly damaging	Het
Metrn	G	A	17: 25,795,217	R212C	probably damaging	Het
Mlip	A	C	9: 77,347,693		probably null	Het
Mmp24	C	T	2: 155,799,777	T175I	probably damaging	Het
N6amt1	A	T	16: 87,354,335	D28V	probably damaging	Het
Olfr1289	G	A	2: 111,484,143	G238R	probably damaging	Het
Olfr215	T	C	6: 116,582,929	T6A	probably benign	Het
Olfr380	A	T	11: 73,453,851	Y120*	probably null	Het
Olfr472	A	G	7: 107,902,912	H65R	probably damaging	Het
Olfr490	G	T	7: 108,286,742	A128E	probably damaging	Het
Olfr870	T	A	9: 20,170,969	I201F	possibly damaging	Het
Pcdh17	T	A	14: 84,532,993	N970K	probably damaging	Het
Pdzrn3	T	C	6: 101,151,428	Y759C	probably damaging	Het
Pkd2l2	T	C	18: 34,425,237	L323P	probably damaging	Het
Psg21	G	T	7: 18,652,258		probably benign	Het
Rest	T	C	5: 77,281,726	V664A	probably benign	Het
Sco2	G	A	15: 89,371,972	R160*	probably null	Het
Sfswap	T	A	5: 129,514,818	S300T	probably damaging	Het
Slc5a10	A	T	11: 61,678,566	M329K	probably benign	Het
Slco1a5	G	A	6: 142,236,307	P564S	probably damaging	Het
Stk38	A	G	17: 28,982,129	F191S	probably damaging	Het
Svep1	T	A	4: 58,072,826	Y2161F	possibly damaging	Het
Tada2a	G	A	11: 84,079,602	T441M	possibly damaging	Het
Tg	T	A	15: 66,688,889	N1033K	probably benign	Het
Thoc3	A	T	13: 54,467,873	I126N	probably damaging	Het
Tnc	T	C	4: 64,007,730		probably null	Het
Tnc	A	T	4: 64,008,795	D831E	possibly damaging	Het
Uhmk1	A	T	1: 170,211,218	V100E	probably damaging	Het
Usp43	G	A	11: 67,921,916		probably benign	Het
Vmn2r90	A	T	17: 17,713,450	Y424F	probably benign	Het
Vps33a	C	T	5: 123,547,001		probably null	Het
Xirp2	A	T	2: 67,482,298	K37I	probably damaging	Het
Zfp106	A	T	2: 120,533,507		probably null	Het
Zfp748	A	T	13: 67,542,528	C204*	probably null	Het

Other mutations in Bcas1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01647:Bcas1	APN	2	170349252	missense	probably damaging	0.99
IGL01714:Bcas1	APN	2	170384182	splice site	probably benign
IGL02267:Bcas1	APN	2	170378788	nonsense	probably null
IGL02486:Bcas1	APN	2	170406398	missense	probably damaging	1.00
IGL03328:Bcas1	APN	2	170366396	nonsense	probably null
R0335:Bcas1	UTSW	2	170418681	missense	probably damaging	0.97
R1458:Bcas1	UTSW	2	170387951	missense	probably damaging	1.00
R1463:Bcas1	UTSW	2	170418664	missense	probably benign	0.07
R1467:Bcas1	UTSW	2	170387932	missense	possibly damaging	0.92
R1467:Bcas1	UTSW	2	170387932	missense	possibly damaging	0.92
R1507:Bcas1	UTSW	2	170366428	missense	probably damaging	0.99
R1645:Bcas1	UTSW	2	170387167	missense	probably damaging	1.00
R1654:Bcas1	UTSW	2	170349246	missense	probably damaging	1.00
R1911:Bcas1	UTSW	2	170387943	missense	probably damaging	1.00
R1990:Bcas1	UTSW	2	170370477	missense	possibly damaging	0.83
R2017:Bcas1	UTSW	2	170348161	splice site	probably null
R4119:Bcas1	UTSW	2	170378815	missense	probably benign	0.02
R4181:Bcas1	UTSW	2	170418627	missense	probably benign	0.26
R4302:Bcas1	UTSW	2	170418627	missense	probably benign	0.26
R4497:Bcas1	UTSW	2	170406821	missense	probably damaging	1.00
R4670:Bcas1	UTSW	2	170384325	missense	probably damaging	0.99
R4671:Bcas1	UTSW	2	170384325	missense	probably damaging	0.99
R4914:Bcas1	UTSW	2	170378886	missense	probably damaging	1.00
R4915:Bcas1	UTSW	2	170378886	missense	probably damaging	1.00
R4917:Bcas1	UTSW	2	170378886	missense	probably damaging	1.00
R4918:Bcas1	UTSW	2	170378886	missense	probably damaging	1.00
R5155:Bcas1	UTSW	2	170418618	missense	probably damaging	0.98
R5354:Bcas1	UTSW	2	170349396	missense	possibly damaging	0.94
R7566:Bcas1	UTSW	2	170370449	critical splice donor site	probably null
R7736:Bcas1	UTSW	2	170387164	missense	possibly damaging	0.89
R7816:Bcas1	UTSW	2	170406427	missense	probably benign	0.11
R7850:Bcas1	UTSW	2	170348103	missense	probably damaging	1.00
R8078:Bcas1	UTSW	2	170418612	missense	possibly damaging	0.87
R8350:Bcas1	UTSW	2	170406300	missense	possibly damaging	0.47
R8530:Bcas1	UTSW	2	170387948	missense	probably damaging	1.00
R9083:Bcas1	UTSW	2	170348161	splice site	probably benign
R9272:Bcas1	UTSW	2	170348120	missense	probably damaging	1.00
R9469:Bcas1	UTSW	2	170349372	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GCTGACATCAAACCTCCCTG -3'
(R):5'- AGGGTCTCTCTTCCAGGAAG -3'

Sequencing Primer
(F):5'- GATGCAGCCGATGAATCCGTG -3'
(R):5'- TCTTCCAGGAAGAGCAGGGTC -3'

Posted On

2016-11-09