Mutagenetix > Incidental Mutation

Incidental Mutation 'R2017:Bcas1'

223171

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

040026-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2017 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

170188911-170269765 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 170190081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q80YN3

Predicted Effect

probably null
Transcript: ENSMUST00000013667

SMART Domains

Protein: ENSMUSP00000013667
Gene: ENSMUSG00000013523

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 null
Transcript: ENSMUST00000068137

SMART Domains

Protein: ENSMUSP00000069437
Gene: ENSMUSG00000013523

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 null
Transcript: ENSMUST00000068137

SMART Domains

Protein: ENSMUSP00000069437
Gene: ENSMUSG00000013523

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 null
Transcript: ENSMUST00000109152

SMART Domains

Protein: ENSMUSP00000104780
Gene: ENSMUSG00000013523

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: ENSMUST00000133673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152461

Predicted Effect

probably null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156657

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025C18Rik	T	C	2: 164,920,946 (GRCm39)	D29G	unknown	Het
Abca13	A	T	11: 9,240,619 (GRCm39)	L827F	probably damaging	Het
Abcc1	T	A	16: 14,279,068 (GRCm39)	V1126E	probably damaging	Het
Abcc12	A	G	8: 87,290,617 (GRCm39)	L41S	probably damaging	Het
Adgrg7	T	C	16: 56,553,169 (GRCm39)	T643A	probably benign	Het
Angpt2	T	C	8: 18,755,747 (GRCm39)	N240S	probably damaging	Het
Apc	A	G	18: 34,446,655 (GRCm39)	T1150A	probably benign	Het
Apob	G	A	12: 8,057,751 (GRCm39)	D2078N	possibly damaging	Het
Apool	T	A	X: 111,274,258 (GRCm39)	S234T	probably benign	Het
Ascc3	C	T	10: 50,566,307 (GRCm39)	P751S	probably benign	Het
Astn2	G	A	4: 65,459,178 (GRCm39)	T1079I	probably damaging	Het
Atp8b1	T	C	18: 64,673,405 (GRCm39)	N989S	probably damaging	Het
B3gnt2	T	C	11: 22,786,621 (GRCm39)	D189G	probably damaging	Het
Btk	T	C	X: 133,448,350 (GRCm39)	D355G	probably benign	Het
C2cd4c	A	G	10: 79,448,823 (GRCm39)	V108A	possibly damaging	Het
Cbfa2t2	T	C	2: 154,359,727 (GRCm39)	L264P	probably damaging	Het
Cd22	A	T	7: 30,572,205 (GRCm39)	L423Q	probably damaging	Het
Cep128	T	C	12: 91,333,238 (GRCm39)	D9G	probably damaging	Het
Cer1	A	T	4: 82,801,120 (GRCm39)	V181D	probably damaging	Het
Ciita	T	C	16: 10,329,540 (GRCm39)	L584P	probably damaging	Het
Cmss1	T	C	16: 57,136,641 (GRCm39)	D77G	probably damaging	Het
Col4a2	T	C	8: 11,495,086 (GRCm39)	F1515L	probably benign	Het
Cyria	T	A	12: 12,412,362 (GRCm39)	V208D	probably damaging	Het
Dcaf1	A	G	9: 106,725,122 (GRCm39)	E536G	probably damaging	Het
Dcaf1	T	A	9: 106,716,287 (GRCm39)	D360E	probably benign	Het
Dnah2	T	A	11: 69,327,896 (GRCm39)	I3370F	probably damaging	Het
Dsg1c	T	C	18: 20,399,253 (GRCm39)	V119A	possibly damaging	Het
Edn3	A	G	2: 174,620,455 (GRCm39)	E103G	probably benign	Het
Efemp1	G	T	11: 28,871,613 (GRCm39)	R376L	probably damaging	Het
Eid1	A	G	2: 125,515,121 (GRCm39)	M4V	probably benign	Het
Emilin3	G	A	2: 160,751,530 (GRCm39)	R170C	possibly damaging	Het
Epx	T	C	11: 87,765,163 (GRCm39)	D178G	probably damaging	Het
Fkbp10	G	A	11: 100,312,499 (GRCm39)	V252I	possibly damaging	Het
Flnc	G	A	6: 29,443,796 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,813,076 (GRCm39)	K3132E	possibly damaging	Het
Gla	C	T	X: 133,497,071 (GRCm39)	A39T	probably damaging	Het
Hivep2	C	T	10: 14,006,501 (GRCm39)	T1033M	probably damaging	Het
Hsd17b8	A	T	17: 34,245,187 (GRCm39)	M259K	probably damaging	Het
Ift70a1	A	G	2: 75,811,801 (GRCm39)	L94P	probably benign	Het
Ikzf4	C	T	10: 128,470,026 (GRCm39)	G498D	probably damaging	Het
Impg1	T	C	9: 80,322,720 (GRCm39)	Y95C	probably damaging	Het
Ino80c	T	A	18: 24,244,810 (GRCm39)	K136*	probably null	Het
Iqsec1	A	C	6: 90,666,912 (GRCm39)	H508Q	probably benign	Het
Itgb3	A	G	11: 104,528,788 (GRCm39)	H305R	possibly damaging	Het
Jup	T	A	11: 100,277,167 (GRCm39)	T14S	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klf12	T	C	14: 100,260,073 (GRCm39)	R219G	possibly damaging	Het
Klhl42	G	T	6: 147,009,291 (GRCm39)	V377L	probably benign	Het
Large1	A	G	8: 73,578,825 (GRCm39)	F460S	probably damaging	Het
Loxl3	A	T	6: 83,025,958 (GRCm39)	D402V	probably damaging	Het
Lrrc37a	T	A	11: 103,391,951 (GRCm39)	Y1158F	probably benign	Het
Map2	T	A	1: 66,451,958 (GRCm39)	S365T	probably damaging	Het
Mapk8ip1	A	G	2: 92,221,379 (GRCm39)		probably null	Het
Med26	A	G	8: 73,250,791 (GRCm39)	S103P	probably damaging	Het
Muc4	T	C	16: 32,570,121 (GRCm39)	S394P	possibly damaging	Het
Nle1	G	T	11: 82,796,373 (GRCm39)	P166Q	probably damaging	Het
Obox5	T	C	7: 15,492,807 (GRCm39)	I254T	probably benign	Het
Or1p1c	T	A	11: 74,161,159 (GRCm39)	W315R	probably benign	Het
Or4g7	G	T	2: 111,309,532 (GRCm39)	M134I	probably benign	Het
Or52j3	T	C	7: 102,836,137 (GRCm39)	F110L	probably benign	Het
Or7c19	T	C	8: 85,957,373 (GRCm39)	L83P	possibly damaging	Het
Pacs2	A	T	12: 113,026,077 (GRCm39)	N545Y	probably damaging	Het
Palld	T	C	8: 62,137,799 (GRCm39)	E652G	probably damaging	Het
Pgm5	T	C	19: 24,801,676 (GRCm39)	N184S	probably benign	Het
Pitpnm1	T	C	19: 4,161,873 (GRCm39)	V955A	probably benign	Het
Plcb1	T	A	2: 135,204,340 (GRCm39)	I898N	possibly damaging	Het
Pramel13	A	G	4: 144,121,244 (GRCm39)	V260A	possibly damaging	Het
Prr36	T	A	8: 4,265,205 (GRCm39)	T182S	probably benign	Het
Prss35	A	G	9: 86,637,565 (GRCm39)	S112G	probably benign	Het
Ptprj	C	T	2: 90,294,958 (GRCm39)	V417M	probably damaging	Het
Ptprm	G	T	17: 67,264,148 (GRCm39)		probably null	Het
Rasgrp2	T	C	19: 6,463,195 (GRCm39)	V498A	probably benign	Het
Rfx6	A	G	10: 51,597,700 (GRCm39)	N513S	possibly damaging	Het
Rhbdf1	A	G	11: 32,160,471 (GRCm39)	I693T	probably damaging	Het
Scn9a	T	C	2: 66,345,665 (GRCm39)	T1143A	probably damaging	Het
Spata17	A	G	1: 186,780,650 (GRCm39)	S366P	possibly damaging	Het
Svep1	A	G	4: 58,070,568 (GRCm39)	L2406P	probably benign	Het
Tasor2	A	T	13: 3,626,770 (GRCm39)	I1060K	probably benign	Het
Tgfb2	A	T	1: 186,362,962 (GRCm39)	Y287*	probably null	Het
Trip11	A	T	12: 101,851,619 (GRCm39)	V815E	probably benign	Het
Trp53bp2	G	T	1: 182,276,580 (GRCm39)	V854L	probably benign	Het
Vmn1r78	T	C	7: 11,887,270 (GRCm39)	S294P	possibly damaging	Het
Vmn2r86	T	C	10: 130,282,582 (GRCm39)	K678R	probably benign	Het
Yeats2	T	A	16: 19,977,931 (GRCm39)	N138K	probably benign	Het
Zup1	A	T	10: 33,803,460 (GRCm39)	N541K	possibly damaging	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
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

Posted On

2014-08-25