Mutagenetix > Incidental Mutation

Incidental Mutation 'R5686:Bcas1'

443340

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

043319-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

170188911-170269765 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 170248730 bp (GRCm39)

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: 77,451,433 (GRCm39)	E839G	possibly damaging	Het
Adgrf3	T	A	5: 30,402,304 (GRCm39)	T575S	probably damaging	Het
Akap9	T	A	5: 4,021,926 (GRCm39)	C1158S	probably benign	Het
Arhgap39	A	G	15: 76,610,833 (GRCm39)	F926L	probably damaging	Het
BC035947	G	T	1: 78,474,567 (GRCm39)	T655K	probably benign	Het
Bltp1	T	A	3: 36,971,809 (GRCm39)	F514Y	probably benign	Het
Brca2	A	G	5: 150,464,369 (GRCm39)	K1378E	probably benign	Het
Card6	A	T	15: 5,130,435 (GRCm39)	N320K	probably damaging	Het
Ccdc3	A	T	2: 5,142,871 (GRCm39)	I43F	probably damaging	Het
Cd200r1	T	C	16: 44,610,527 (GRCm39)	S212P	probably damaging	Het
Cdh8	T	C	8: 99,759,854 (GRCm39)	I632V	probably benign	Het
Col25a1	A	G	3: 130,357,803 (GRCm39)	E477G	probably damaging	Het
Cpne5	A	T	17: 29,402,991 (GRCm39)	C215S	possibly damaging	Het
Crim1	T	A	17: 78,681,512 (GRCm39)	S989T	possibly damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dync1h1	T	A	12: 110,582,838 (GRCm39)	N340K	probably benign	Het
Eif4e2	G	A	1: 87,153,960 (GRCm39)		probably null	Het
Ephb6	G	T	6: 41,596,638 (GRCm39)	R895L	possibly damaging	Het
Esrrg	T	A	1: 187,882,395 (GRCm39)	H217Q	probably benign	Het
Fgl1	T	A	8: 41,653,594 (GRCm39)	K100*	probably null	Het
Flt4	T	C	11: 49,521,430 (GRCm39)	V450A	probably benign	Het
G6pc2	A	T	2: 69,051,128 (GRCm39)	I74L	probably benign	Het
Gabrr1	T	C	4: 33,161,684 (GRCm39)	M336T	probably damaging	Het
Gli1	T	A	10: 127,173,305 (GRCm39)	T118S	probably benign	Het
Gm5435	A	T	12: 82,542,800 (GRCm39)		noncoding transcript	Het
Got1l1	A	G	8: 27,688,087 (GRCm39)	L314P	probably damaging	Het
Hk3	T	A	13: 55,154,626 (GRCm39)	I740F	probably damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Igsf9b	A	G	9: 27,235,475 (GRCm39)	T508A	probably damaging	Het
Il16	T	A	7: 83,297,936 (GRCm39)	N431I	probably benign	Het
Lax1	G	A	1: 133,607,914 (GRCm39)	P276S	probably damaging	Het
Lrp2	A	T	2: 69,341,405 (GRCm39)	V925E	possibly damaging	Het
Lrp3	T	A	7: 34,902,910 (GRCm39)	T479S	possibly damaging	Het
Metrn	G	A	17: 26,014,191 (GRCm39)	R212C	probably damaging	Het
Mlip	A	C	9: 77,254,975 (GRCm39)		probably null	Het
Mmp24	C	T	2: 155,641,697 (GRCm39)	T175I	probably damaging	Het
N6amt1	A	T	16: 87,151,223 (GRCm39)	D28V	probably damaging	Het
Or1e21	A	T	11: 73,344,677 (GRCm39)	Y120*	probably null	Het
Or4f4b	G	A	2: 111,314,488 (GRCm39)	G238R	probably damaging	Het
Or5p52	A	G	7: 107,502,119 (GRCm39)	H65R	probably damaging	Het
Or5p66	G	T	7: 107,885,949 (GRCm39)	A128E	probably damaging	Het
Or6d15	T	C	6: 116,559,890 (GRCm39)	T6A	probably benign	Het
Or8b12i	T	A	9: 20,082,265 (GRCm39)	I201F	possibly damaging	Het
Pcdh17	T	A	14: 84,770,433 (GRCm39)	N970K	probably damaging	Het
Pdzrn3	T	C	6: 101,128,389 (GRCm39)	Y759C	probably damaging	Het
Pkd2l2	T	C	18: 34,558,290 (GRCm39)	L323P	probably damaging	Het
Psg21	G	T	7: 18,386,183 (GRCm39)		probably benign	Het
Rest	T	C	5: 77,429,573 (GRCm39)	V664A	probably benign	Het
Sco2	G	A	15: 89,256,175 (GRCm39)	R160*	probably null	Het
Sfswap	T	A	5: 129,591,882 (GRCm39)	S300T	probably damaging	Het
Slc5a10	A	T	11: 61,569,392 (GRCm39)	M329K	probably benign	Het
Slco1a5	G	A	6: 142,182,033 (GRCm39)	P564S	probably damaging	Het
Stk38	A	G	17: 29,201,103 (GRCm39)	F191S	probably damaging	Het
Svep1	T	A	4: 58,072,826 (GRCm39)	Y2161F	possibly damaging	Het
Tada2a	G	A	11: 83,970,428 (GRCm39)	T441M	possibly damaging	Het
Tg	T	A	15: 66,560,738 (GRCm39)	N1033K	probably benign	Het
Thoc3	A	T	13: 54,615,686 (GRCm39)	I126N	probably damaging	Het
Tnc	T	C	4: 63,925,967 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,927,032 (GRCm39)	D831E	possibly damaging	Het
Uhmk1	A	T	1: 170,038,787 (GRCm39)	V100E	probably damaging	Het
Usp43	G	A	11: 67,812,742 (GRCm39)		probably benign	Het
Vmn2r90	A	T	17: 17,933,712 (GRCm39)	Y424F	probably benign	Het
Vps33a	C	T	5: 123,685,064 (GRCm39)		probably null	Het
Xirp2	A	T	2: 67,312,642 (GRCm39)	K37I	probably damaging	Het
Zfp106	A	T	2: 120,363,988 (GRCm39)		probably null	Het
Zfp748	A	T	13: 67,690,647 (GRCm39)	C204*	probably null	Het
Zfp998	T	C	13: 66,579,722 (GRCm39)	R254G	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
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'- GCTGACATCAAACCTCCCTG -3'
(R):5'- AGGGTCTCTCTTCCAGGAAG -3'

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

Posted On

2016-11-09