Mutagenetix > Incidental Mutation

Incidental Mutation 'R4671:Bcas1'

500703

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4671 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

170188911-170269765 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 170226245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 310 (K310R)

Ref Sequence

ENSEMBL: ENSMUSP00000013667 (fasta)

Gene Model

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

AlphaFold

Q80YN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000013667
AA Change: K310R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000013667
Gene: ENSMUSG00000013523
AA Change: K310R

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

noncoding transcript
Transcript: ENSMUST00000131931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147577

Predicted Effect

unknown
Transcript: ENSMUST00000154650
AA Change: K146R

SMART Domains

Protein: ENSMUSP00000122298
Gene: ENSMUSG00000013523
AA Change: K146R

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,789,157 (GRCm39)	S271P	probably benign	Het
Acod1	T	G	14: 103,284,508 (GRCm39)	M2R	probably benign	Het
Adamts20	T	C	15: 94,301,206 (GRCm39)	E106G	possibly damaging	Het
Adgra3	G	A	5: 50,136,710 (GRCm39)	T661M	probably damaging	Het
Akap13	T	A	7: 75,229,312 (GRCm39)	C161*	probably null	Het
Akr1c12	A	C	13: 4,323,816 (GRCm39)	S162A	possibly damaging	Het
Anks1	C	A	17: 28,270,552 (GRCm39)	H805N	probably benign	Het
Arhgap22	T	C	14: 33,084,500 (GRCm39)	C260R	probably damaging	Het
Banf1	T	C	19: 5,415,872 (GRCm39)	R33G	probably benign	Het
Cacna1c	G	T	6: 118,629,019 (GRCm39)	H1240N	probably damaging	Het
Cartpt	C	T	13: 100,036,588 (GRCm39)		probably null	Het
Ccdc127	T	A	13: 74,505,164 (GRCm39)	Y237*	probably null	Het
Ccnb1ip1	A	T	14: 51,029,734 (GRCm39)	Y109*	probably null	Het
Cenpj	A	T	14: 56,790,840 (GRCm39)	V403E	possibly damaging	Het
Cps1	A	G	1: 67,235,719 (GRCm39)	Y951C	probably damaging	Het
Dcakd	T	C	11: 102,890,634 (GRCm39)	E51G	possibly damaging	Het
Dennd4a	A	T	9: 64,801,689 (GRCm39)	N944I	probably benign	Het
Dus3l	C	T	17: 57,075,566 (GRCm39)	R430C	probably benign	Het
Dync2h1	A	G	9: 7,169,640 (GRCm39)	L279P	possibly damaging	Het
Dzip3	G	A	16: 48,799,953 (GRCm39)	Q112*	probably null	Het
Eif1ad	T	A	19: 5,418,219 (GRCm39)	M1K	probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fancg	T	C	4: 43,005,272 (GRCm39)	E366G	probably benign	Het
Gin1	C	T	1: 97,712,565 (GRCm39)	P154S	probably damaging	Het
Gm11938	A	T	11: 99,493,832 (GRCm39)	C88S	possibly damaging	Het
Gpr183	T	C	14: 122,192,149 (GRCm39)	D124G	probably damaging	Het
Gucy2g	T	A	19: 55,226,500 (GRCm39)	I139F	probably damaging	Het
Iqub	A	T	6: 24,479,183 (GRCm39)	M453K	probably benign	Het
Jcad	A	G	18: 4,674,175 (GRCm39)	T646A	probably benign	Het
Kif23	A	T	9: 61,852,641 (GRCm39)	D24E	probably benign	Het
Kmt2c	T	C	5: 25,571,175 (GRCm39)	N845S	probably damaging	Het
Lhx5	G	A	5: 120,578,032 (GRCm39)	S284N	probably benign	Het
Lipf	T	G	19: 33,954,076 (GRCm39)	V389G	possibly damaging	Het
Lrrc7	C	T	3: 157,908,132 (GRCm39)		probably null	Het
Magi1	A	G	6: 93,657,768 (GRCm39)		probably null	Het
Mast2	A	G	4: 116,165,847 (GRCm39)	S1287P	probably damaging	Het
Mepce	C	T	5: 137,784,905 (GRCm39)		probably benign	Het
Mkrn1	A	G	6: 39,382,691 (GRCm39)	V173A	probably damaging	Het
Myo1c	C	T	11: 75,560,856 (GRCm39)	R770*	probably null	Het
Naip6	A	G	13: 100,431,239 (GRCm39)		probably null	Het
Nsmce3	A	T	7: 64,522,530 (GRCm39)	L46Q	probably benign	Het
Or1n2	G	A	2: 36,797,405 (GRCm39)	C149Y	probably benign	Het
Or2j6	T	G	7: 139,980,218 (GRCm39)	Y247S	probably damaging	Het
Or4k44	A	T	2: 111,368,280 (GRCm39)	M118K	probably damaging	Het
Or51e2	A	G	7: 102,391,808 (GRCm39)	V134A	probably damaging	Het
Or56a3b	T	C	7: 104,771,513 (GRCm39)	L283P	probably damaging	Het
Parp14	A	G	16: 35,678,691 (GRCm39)	F426L	probably benign	Het
Pcf11	A	T	7: 92,306,737 (GRCm39)	S1144T	possibly damaging	Het
Prpf3	T	A	3: 95,758,976 (GRCm39)	T59S	possibly damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptk7	A	G	17: 46,885,392 (GRCm39)	V678A	probably benign	Het
Rb1	A	G	14: 73,511,116 (GRCm39)	L331S	probably damaging	Het
Relch	A	G	1: 105,646,584 (GRCm39)	I637V	probably benign	Het
Sell	A	G	1: 163,893,042 (GRCm39)	Y86C	probably damaging	Het
Serpina1e	G	A	12: 103,914,341 (GRCm39)	R328W	probably damaging	Het
Sertad3	T	G	7: 27,176,091 (GRCm39)	L175R	possibly damaging	Het
Stard9	G	T	2: 120,529,121 (GRCm39)	G1793W	probably damaging	Het
Stra6	T	C	9: 58,056,517 (GRCm39)	I383T	probably benign	Het
Tcf7l1	A	G	6: 72,626,161 (GRCm39)	L154P	probably damaging	Het
Tent5c	C	A	3: 100,380,515 (GRCm39)	L80F	probably benign	Het
Tonsl	A	T	15: 76,507,610 (GRCm39)	D55E	probably benign	Het
Ttc21b	A	G	2: 66,057,257 (GRCm39)	S572P	possibly damaging	Het
Ttc7	T	A	17: 87,654,048 (GRCm39)	L575Q	probably damaging	Het
Ubl4b	C	T	3: 107,462,194 (GRCm39)	S22N	probably damaging	Het
Ubr4	T	C	4: 139,163,502 (GRCm39)	V2634A	possibly damaging	Het
Zbed6	A	G	1: 133,584,778 (GRCm39)	V853A	probably benign	Het
Zfp46	A	C	4: 136,017,484 (GRCm39)	D106A	probably damaging	Het
Zfp951	A	C	5: 104,962,567 (GRCm39)	I333S	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
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

PCR Primer
(F):5'- AGTAGGCACTGGATCCTAGG -3'
(R):5'- GTGTGCCTGAGATTCACTACTG -3'

Sequencing Primer
(F):5'- AGTGAAGAACAGGGTCCTCTTTCC -3'
(R):5'- GCCTGAGATTCACTACTGTTTAGCG -3'

Posted On

2017-12-01