Mutagenetix > Incidental Mutations

Incidental Mutation 'R5155:Bcas1'

396635

Institutional Source

Beutler Lab

Gene Symbol

Bcas1

Ensembl Gene

ENSMUSG00000013523

Gene Name

breast carcinoma amplified sequence 1

Synonyms

9030223A09Rik, 2210416M21Rik, NABC1

MMRRC Submission

042737-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5155 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

170346991-170427845 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 170418618 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 47 (H47R)

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: H47R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000013667
Gene: ENSMUSG00000013523
AA Change: H47R

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

possibly damaging
Transcript: ENSMUST00000068137
AA Change: H37R

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000069437
Gene: ENSMUSG00000013523
AA Change: H37R

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 damaging
Transcript: ENSMUST00000109152
AA Change: H47R

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104780
Gene: ENSMUSG00000013523
AA Change: H47R

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: ENSMUST00000145920

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	C	5: 107,490,703	I323T	probably damaging	Het
Abca13	T	C	11: 9,532,447	V4326A	probably damaging	Het
Actn4	A	G	7: 28,962,017		probably null	Het
Adamts8	A	G	9: 30,954,548	D464G	probably benign	Het
Adssl1	T	C	12: 112,638,208	I366T	probably damaging	Het
Alox12e	T	C	11: 70,316,255	D575G	possibly damaging	Het
Ankrd44	A	T	1: 54,778,330	M73K	probably benign	Het
Ap4e1	A	G	2: 127,063,369	T987A	probably benign	Het
Banp	A	C	8: 122,001,020	S318R	probably damaging	Het
Brwd1	G	T	16: 96,002,793	S2524*	probably null	Het
Cand2	T	A	6: 115,792,258	D676E	probably benign	Het
Cc2d1a	A	T	8: 84,141,126	H224Q	probably benign	Het
Ccdc138	A	T	10: 58,507,572	Y83F	probably benign	Het
Ccdc155	C	A	7: 45,189,654	E53*	probably null	Het
Ccdc162	A	T	10: 41,553,580		probably null	Het
Ccdc162	A	C	10: 41,579,151	S396A	probably damaging	Het
Ces1e	A	T	8: 93,201,406	*562R	probably null	Het
Clstn2	T	A	9: 97,456,431	M892L	probably benign	Het
Crybg3	T	C	16: 59,524,901	T2673A	possibly damaging	Het
Cstf3	A	G	2: 104,652,485	N326S	probably benign	Het
Cux1	G	A	5: 136,565,441		probably benign	Het
Cyb5r4	T	G	9: 87,040,403	M155R	probably benign	Het
D130043K22Rik	A	G	13: 24,872,290	D535G	probably damaging	Het
D430042O09Rik	A	G	7: 125,872,184	T1486A	probably damaging	Het
Dnah2	G	A	11: 69,422,536	P4266S	probably damaging	Het
Dnah7a	T	A	1: 53,643,495	N272I	probably benign	Het
Dsg2	A	G	18: 20,598,658	Y779C	possibly damaging	Het
Eif4g3	T	A	4: 138,126,743	N507K	probably benign	Het
Elavl4	T	C	4: 110,292,636	Q3R	probably null	Het
Engase	T	G	11: 118,481,281	I133S	probably benign	Het
Ercc5	T	C	1: 44,180,622	V1018A	probably damaging	Het
Ext1	C	A	15: 53,075,817	W612L	probably damaging	Het
Faap100	T	A	11: 120,377,632	E105V	possibly damaging	Het
Fam8a1	G	A	13: 46,673,562	A270T	probably benign	Het
Fhdc1	T	G	3: 84,446,150	Q589H	probably benign	Het
Gatm	G	A	2: 122,609,853	T35I	probably benign	Het
Gcgr	T	C	11: 120,537,046	I271T	probably benign	Het
Gm21818	T	C	13: 120,173,553	S124P	probably benign	Het
Gm527	T	A	12: 64,923,607	Y239N	probably damaging	Het
H2-Ab1	A	G	17: 34,267,384	H139R	possibly damaging	Het
Herc2	G	A	7: 56,227,826	R4547Q	possibly damaging	Het
Itga1	A	T	13: 115,035,303	S89T	probably benign	Het
Lrba	A	G	3: 86,351,300	M1365V	probably benign	Het
Lrp1b	A	C	2: 41,728,622		probably null	Het
Map1a	G	A	2: 121,302,386	A990T	probably damaging	Het
Micall2	C	A	5: 139,710,231	L784F	probably damaging	Het
Mmp9	T	C	2: 164,949,066		probably null	Het
Mrps7	T	A	11: 115,604,829	Y64*	probably null	Het
Mslnl	C	T	17: 25,738,968	Q62*	probably null	Het
Nfil3	A	G	13: 52,968,580	L96P	probably damaging	Het
Olfr453	A	G	6: 42,744,814	Y259C	probably damaging	Het
Phf3	T	C	1: 30,824,376	D756G	possibly damaging	Het
Plxnd1	C	T	6: 115,958,988		probably null	Het
Prickle4	C	T	17: 47,690,057		probably null	Het
Prr9	T	A	3: 92,123,049	T95S	possibly damaging	Het
Prrc2a	A	G	17: 35,160,091		probably null	Het
Prrt3	A	G	6: 113,497,559		probably null	Het
Psme4	A	T	11: 30,876,806	Y1775F	probably damaging	Het
Pum2	T	C	12: 8,713,572	V243A	possibly damaging	Het
Rnf32	T	C	5: 29,203,147	S125P	probably damaging	Het
Rnf8	A	G	17: 29,626,630	Y65C	probably damaging	Het
Rph3a	T	C	5: 120,948,770	T456A	possibly damaging	Het
Scaper	T	A	9: 55,556,086	Q854L	probably null	Het
Sez6l2	T	C	7: 126,962,373	S472P	probably damaging	Het
Spsb3	T	C	17: 24,886,995		probably benign	Het
Srebf2	A	G	15: 82,196,226	D40G	probably damaging	Het
Sspo	A	G	6: 48,460,474	N1389D	probably benign	Het
Taf4b	G	T	18: 14,830,095	A631S	probably benign	Het
Tigd4	G	A	3: 84,594,663	V296M	possibly damaging	Het
Tsc22d2	T	A	3: 58,417,316		probably benign	Het
Uso1	T	A	5: 92,167,335		probably null	Het
Vmn2r6	T	G	3: 64,538,514	N597H	probably benign	Het
Zfc3h1	T	A	10: 115,412,121	S1076R	possibly damaging	Het
Zfp64	T	A	2: 168,906,965	Q44L	probably benign	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
R5354:Bcas1	UTSW	2	170349396	missense	possibly damaging	0.94
R5686:Bcas1	UTSW	2	170406810	missense	probably benign	0.03
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
R9272:Bcas1	UTSW	2	170348120	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACCTAGATTCTGGCTCTAGC -3'
(R):5'- GCAGTTTCTATAAACACGGCC -3'

Sequencing Primer
(F):5'- TAGGACAGGCAGCTTCCAG -3'
(R):5'- AACACGGCCTTTAGATTTGACTCTG -3'

Posted On

2016-06-21