Mutagenetix > Incidental Mutation

Incidental Mutation 'R9083:Bcas1'

716087

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

068902-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9083 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

170188911-170269765 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 170190081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q80YN3

Predicted Effect

probably benign
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 benign
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 benign
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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,534,524 (GRCm39)	S844R	possibly damaging	Het
Adig	C	A	2: 158,347,709 (GRCm39)		probably benign	Het
Aspm	A	G	1: 139,421,436 (GRCm39)	N3106S	possibly damaging	Het
Bco1	A	C	8: 117,844,143 (GRCm39)	I286L	probably benign	Het
Bnc1	C	T	7: 81,624,646 (GRCm39)	V194I	probably benign	Het
Bptf	G	A	11: 106,959,176 (GRCm39)	R1912W	probably damaging	Het
Cacna1a	A	G	8: 85,344,511 (GRCm39)	I1858V	probably benign	Het
Chdh	T	C	14: 29,753,703 (GRCm39)	F204S	probably damaging	Het
Cic	A	G	7: 24,985,470 (GRCm39)	T1212A	probably damaging	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Cts8	A	G	13: 61,397,036 (GRCm39)	Y295H	probably damaging	Het
Cyp1a2	T	C	9: 57,587,572 (GRCm39)	T333A	probably benign	Het
Cyp2a12	T	C	7: 26,735,944 (GRCm39)	F451S	probably damaging	Het
Dmxl2	T	C	9: 54,316,548 (GRCm39)	I1613V	probably benign	Het
Eme1	A	G	11: 94,540,958 (GRCm39)	L260S	probably damaging	Het
Ermp1	A	C	19: 29,623,415 (GRCm39)	S192A	probably benign	Het
Fam186a	T	C	15: 99,843,079 (GRCm39)	Q1055R	probably benign	Het
Fat1	C	T	8: 45,466,127 (GRCm39)	T1462M	possibly damaging	Het
Fat1	A	G	8: 45,491,336 (GRCm39)	N3822S	probably benign	Het
Gm973	A	G	1: 59,675,317 (GRCm39)	T225A		Het
Gnl2	A	G	4: 124,941,357 (GRCm39)	Y367C	probably damaging	Het
Golga5	T	A	12: 102,458,476 (GRCm39)	S640T	probably benign	Het
Inafm1	A	G	7: 16,007,196 (GRCm39)	V7A	unknown	Het
Irx2	A	G	13: 72,777,392 (GRCm39)	D71G	possibly damaging	Het
Kash5	G	A	7: 44,854,058 (GRCm39)	R24C	unknown	Het
Kif13a	T	C	13: 46,966,263 (GRCm39)	Y448C	probably damaging	Het
Lcor	G	T	19: 41,574,839 (GRCm39)	R1198L	probably damaging	Het
Ldlrad4	A	T	18: 68,197,746 (GRCm39)	N10I	probably benign	Het
Lix1	T	C	17: 17,677,392 (GRCm39)	Y196H	possibly damaging	Het
Lrrc37	A	C	11: 103,509,830 (GRCm39)	S713A	unknown	Het
Mon1a	A	G	9: 107,779,835 (GRCm39)	Y468C	probably damaging	Het
Mroh4	A	T	15: 74,498,140 (GRCm39)	I177N	probably damaging	Het
Mterf4	A	T	1: 93,229,515 (GRCm39)	Y236*	probably null	Het
Myo1f	T	A	17: 33,813,036 (GRCm39)	I614N	probably damaging	Het
Nbas	T	A	12: 13,385,856 (GRCm39)	S707T	possibly damaging	Het
Ncl	A	T	1: 86,279,183 (GRCm39)	S577T	possibly damaging	Het
Or10al4	T	A	17: 38,037,060 (GRCm39)	N48K	probably damaging	Het
Or52d13	T	C	7: 103,109,896 (GRCm39)	D173G		Het
Or6c2b	A	T	10: 128,947,892 (GRCm39)	M134K	probably damaging	Het
Or6c69c	A	T	10: 129,910,941 (GRCm39)	M221L	probably benign	Het
Or6c69c	G	C	10: 129,910,969 (GRCm39)	S230T	probably benign	Het
Or7g17	A	T	9: 18,768,550 (GRCm39)	I201F	probably benign	Het
Or8g17	A	G	9: 38,930,016 (GRCm39)	S274P	probably damaging	Het
Padi1	C	A	4: 140,559,602 (GRCm39)		probably null	Het
Patj	G	A	4: 98,401,871 (GRCm39)	V1004M	probably benign	Het
Pcdhb9	A	T	18: 37,535,770 (GRCm39)	D588V	probably damaging	Het
Pdzph1	C	A	17: 59,261,395 (GRCm39)	R879L	possibly damaging	Het
Pla2g2c	G	A	4: 138,463,378 (GRCm39)	V91I	probably benign	Het
Plin4	T	C	17: 56,416,345 (GRCm39)	D53G	possibly damaging	Het
Poll	T	C	19: 45,546,317 (GRCm39)	Q241R	probably benign	Het
Recql5	A	T	11: 115,785,475 (GRCm39)	L674M	possibly damaging	Het
Shroom3	G	A	5: 93,098,533 (GRCm39)	G1338S	probably damaging	Het
Slc38a8	C	T	8: 120,212,780 (GRCm39)	V294I	probably benign	Het
Slc4a1ap	T	C	5: 31,684,457 (GRCm39)	V31A	probably benign	Het
Tln2	G	A	9: 67,269,927 (GRCm39)	P489S	probably damaging	Het
Trappc9	G	A	15: 72,608,626 (GRCm39)	R928*	probably null	Het
Uba7	C	A	9: 107,855,166 (GRCm39)	T343N	probably benign	Het
Vasn	C	T	16: 4,467,871 (GRCm39)	T606I	probably benign	Het
Xrn2	T	A	2: 146,880,199 (GRCm39)	D507E	probably damaging	Het
Zfp592	T	A	7: 80,674,644 (GRCm39)	M536K	possibly damaging	Het
Zfp932	A	T	5: 110,157,100 (GRCm39)	H266L	probably 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
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
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'- AGGTTGAAGTTGTAGGCAGAATTTC -3'
(R):5'- TCAGAGTTGGGTTTGAGCACTC -3'

Sequencing Primer
(F):5'- AGGCAGAATTTCATTGGCTGACC -3'
(R):5'- GGTTTGAGCACTCCCATTTTAAAATC -3'

Posted On

2022-07-18