Mutagenetix > Incidental Mutations

Incidental Mutation 'R2215:Bcas3'

241105

Institutional Source

Beutler Lab

Gene Symbol

Bcas3

Ensembl Gene

ENSMUSG00000059439

Gene Name

breast carcinoma amplified sequence 3

Synonyms

2610028P08Rik, 1500019F07Rik, rudhira, K20D4

MMRRC Submission

040217-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.745) question?

Stock #

R2215 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85353167-85826058 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85801943 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 862 (S862P)

Ref Sequence

ENSEMBL: ENSMUSP00000090496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074875] [ENSMUST00000092821] [ENSMUST00000092822] [ENSMUST00000108061] [ENSMUST00000108062]

AlphaFold

Q8CCN5

Predicted Effect

probably benign
Transcript: ENSMUST00000074875
AA Change: S877P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074416
Gene: ENSMUSG00000059439
AA Change: S877P

Domain	Start	End	E-Value	Type
Blast:WD40	56	104	3e-17	BLAST
WD40	340	380	7.7e-1	SMART
WD40	390	433	2.47e1	SMART
low complexity region	480	494	N/A	INTRINSIC
low complexity region	505	514	N/A	INTRINSIC
Pfam:BCAS3	521	792	2.3e-33	PFAM
low complexity region	885	901	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000092821
AA Change: S862P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090496
Gene: ENSMUSG00000059439
AA Change: S862P

Domain	Start	End	E-Value	Type
Blast:WD40	56	104	3e-17	BLAST
WD40	340	380	7.7e-1	SMART
WD40	390	433	2.47e1	SMART
low complexity region	480	494	N/A	INTRINSIC
low complexity region	505	514	N/A	INTRINSIC
Pfam:BCAS3	521	776	3.8e-35	PFAM
low complexity region	870	886	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092822
AA Change: S385P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000090497
Gene: ENSMUSG00000059439
AA Change: S385P

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
low complexity region	28	37	N/A	INTRINSIC
Pfam:BCAS3	44	298	1.2e-35	PFAM
low complexity region	415	431	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108061
AA Change: S877P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000103696
Gene: ENSMUSG00000059439
AA Change: S877P

Domain	Start	End	E-Value	Type
Blast:WD40	56	104	2e-17	BLAST
WD40	340	380	7.7e-1	SMART
WD40	390	433	2.47e1	SMART
low complexity region	480	494	N/A	INTRINSIC
low complexity region	505	514	N/A	INTRINSIC
Pfam:BCAS3	521	789	1e-33	PFAM
low complexity region	899	913	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108062
AA Change: S877P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000103697
Gene: ENSMUSG00000059439
AA Change: S877P

Domain	Start	End	E-Value	Type
Blast:WD40	56	104	2e-17	BLAST
WD40	340	380	7.7e-1	SMART
WD40	390	433	2.47e1	SMART
low complexity region	480	494	N/A	INTRINSIC
low complexity region	505	514	N/A	INTRINSIC
Pfam:BCAS3	521	796	1.3e-28	PFAM
low complexity region	899	913	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128213

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140673

Predicted Effect

unknown
Transcript: ENSMUST00000142596
AA Change: S403P

SMART Domains

Protein: ENSMUSP00000122571
Gene: ENSMUSG00000059439
AA Change: S403P

Domain	Start	End	E-Value	Type
low complexity region	7	21	N/A	INTRINSIC
low complexity region	32	41	N/A	INTRINSIC
Pfam:BCAS3	48	323	3e-29	PFAM
low complexity region	434	450	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000149662
AA Change: S41P

SMART Domains

Protein: ENSMUSP00000120891
Gene: ENSMUSG00000059439
AA Change: S41P

Domain	Start	End	E-Value	Type
low complexity region	41	52	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000154396
AA Change: S641P

SMART Domains

Protein: ENSMUSP00000122154
Gene: ENSMUSG00000059439
AA Change: S641P

Domain	Start	End	E-Value	Type
WD40	120	160	7.7e-1	SMART
WD40	170	213	2.47e1	SMART
low complexity region	260	274	N/A	INTRINSIC
low complexity region	285	294	N/A	INTRINSIC
Pfam:BCAS3	301	561	1e-30	PFAM
low complexity region	650	666	N/A	INTRINSIC

Meta Mutation Damage Score

0.0787

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,363,793	S1899T	probably damaging	Het
Accs	G	T	2: 93,841,898	N208K	probably benign	Het
Actn4	C	A	7: 28,918,753	V22L	possibly damaging	Het
Adam21	A	G	12: 81,560,290	S233P	probably damaging	Het
Agmat	C	T	4: 141,749,588	R102C	probably benign	Het
Akap8l	T	C	17: 32,321,595	E608G	possibly damaging	Het
Arap2	T	C	5: 62,677,176	I788V	probably damaging	Het
Arhgef12	G	T	9: 43,005,871	H391N	probably damaging	Het
Arhgef28	G	T	13: 98,051,021	H255Q	possibly damaging	Het
Baz1a	G	A	12: 54,975,369	R43*	probably null	Het
Blm	A	T	7: 80,499,847	H671Q	possibly damaging	Het
Bmp8a	C	T	4: 123,325,118	V166I	probably benign	Het
Cep120	G	T	18: 53,727,635	P241Q	probably damaging	Het
Col14a1	G	A	15: 55,380,842	G437E	unknown	Het
Cyp2a5	T	C	7: 26,840,475	L3S	probably damaging	Het
D16Ertd472e	T	C	16: 78,545,267	T242A	probably benign	Het
Dach1	A	G	14: 98,168,481		probably null	Het
Ddx20	A	T	3: 105,680,340		probably benign	Het
Eif4enif1	A	G	11: 3,227,476	S185G	probably damaging	Het
Ep400	A	T	5: 110,693,555		probably benign	Het
Fam117b	T	A	1: 59,969,060	I351K	probably damaging	Het
Fbxo31	T	C	8: 121,566,311	I112V	probably benign	Het
Galntl5	A	T	5: 25,198,478	N149I	probably damaging	Het
Gja8	A	T	3: 96,919,902	F148Y	probably damaging	Het
Gm9774	G	A	3: 92,428,423	A324V	probably damaging	Het
Gpatch1	A	T	7: 35,293,827	L531Q	possibly damaging	Het
Gprin1	G	A	13: 54,740,233	T76M	probably damaging	Het
Htr4	T	A	18: 62,413,716	C113*	probably null	Het
Igf1r	T	A	7: 68,165,234	D294E	probably benign	Het
Kdm6b	G	A	11: 69,405,044	P799L	unknown	Het
Lat	A	T	7: 126,367,965	V139E	probably damaging	Het
Lrrc34	G	A	3: 30,643,529	R51C	probably benign	Het
Map3k1	A	G	13: 111,755,788	S978P	probably benign	Het
Masp1	T	A	16: 23,452,521	D659V	possibly damaging	Het
Mcam	A	T	9: 44,139,953	R415*	probably null	Het
Mtmr10	A	G	7: 64,337,655	T648A	probably benign	Het
Myh2	T	C	11: 67,191,737	W1378R	probably benign	Het
Nipsnap2	A	G	5: 129,739,585	E64G	probably damaging	Het
Olfr1240	T	C	2: 89,440,037	M81V	probably benign	Het
Olfr1412	G	A	1: 92,588,986	V219I	probably benign	Het
Olfr503	T	C	7: 108,544,888	L119P	probably damaging	Het
Olfr788	A	T	10: 129,473,420	I243F	probably damaging	Het
Pcdhb8	T	G	18: 37,357,074	S602A	probably damaging	Het
Peg10	A	T	6: 4,756,918		probably benign	Het
Pld1	A	T	3: 28,078,393	I577F	probably benign	Het
Plekhm1	A	T	11: 103,376,985	I720N	probably damaging	Het
Ppp2r1a	A	G	17: 20,961,743		probably null	Het
Retreg3	G	T	11: 101,119,633	Y49*	probably null	Het
Rrp36	T	C	17: 46,672,820	E22G	possibly damaging	Het
Sec14l2	C	A	11: 4,109,169	A167S	probably damaging	Het
Sema5b	A	G	16: 35,660,215	T751A	probably damaging	Het
Smarcc1	C	A	9: 110,237,839		probably benign	Het
Smox	T	C	2: 131,520,270		probably null	Het
Spats2l	A	T	1: 57,946,416	T543S	possibly damaging	Het
Sppl2a	G	T	2: 126,927,834	T34K	probably benign	Het
Svep1	T	C	4: 58,138,602		probably benign	Het
Tet2	T	A	3: 133,486,601	I691F	probably benign	Het
Tnxb	T	C	17: 34,704,140	Y2566H	possibly damaging	Het
Ttn	T	C	2: 76,740,509	E26680G	probably damaging	Het
Txlna	T	C	4: 129,639,318	E139G	possibly damaging	Het
Ubap2	T	C	4: 41,196,483		probably null	Het
Ubr3	A	T	2: 69,979,317		probably null	Het
Usp37	A	C	1: 74,444,526	F844V	probably damaging	Het
Usp6nl	A	G	2: 6,424,339	D204G	probably damaging	Het
Vmn1r230	T	C	17: 20,847,422	I291T	probably benign	Het
Zfp229	T	G	17: 21,746,277	V496G	possibly damaging	Het

Other mutations in Bcas3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Bcas3	APN	11	85365591	missense	probably damaging	0.98
IGL00754:Bcas3	APN	11	85495823	splice site	probably benign
IGL01712:Bcas3	APN	11	85581048	missense	probably damaging	0.99
IGL02073:Bcas3	APN	11	85557437	missense	probably damaging	1.00
IGL02261:Bcas3	APN	11	85531930	missense	probably damaging	1.00
IGL02323:Bcas3	APN	11	85495845	missense	probably damaging	0.97
IGL02493:Bcas3	APN	11	85495882	missense	probably damaging	0.99
IGL02609:Bcas3	APN	11	85457894	missense	probably damaging	1.00
IGL02808:Bcas3	APN	11	85495851	missense	probably benign	0.02
IGL03085:Bcas3	APN	11	85476783	missense	probably damaging	1.00
IGL03263:Bcas3	APN	11	85822122	intron	probably benign
FR4340:Bcas3	UTSW	11	85509497	missense	probably benign	0.12
FR4342:Bcas3	UTSW	11	85509497	missense	probably benign	0.12
FR4589:Bcas3	UTSW	11	85509497	missense	probably benign	0.12
IGL02991:Bcas3	UTSW	11	85457887	nonsense	probably null
PIT4377001:Bcas3	UTSW	11	85495842	missense	probably damaging	0.98
PIT4472001:Bcas3	UTSW	11	85531900	missense	probably damaging	0.99
R0145:Bcas3	UTSW	11	85359610	splice site	probably benign
R0257:Bcas3	UTSW	11	85822039	missense	probably benign	0.00
R0276:Bcas3	UTSW	11	85470837	critical splice donor site	probably null
R0485:Bcas3	UTSW	11	85495850	missense	probably damaging	0.99
R1053:Bcas3	UTSW	11	85557410	missense	probably benign	0.10
R1833:Bcas3	UTSW	11	85583949	missense	probably benign	0.00
R2107:Bcas3	UTSW	11	85457878	missense	probably damaging	0.97
R2108:Bcas3	UTSW	11	85457878	missense	probably damaging	0.97
R2404:Bcas3	UTSW	11	85354889	splice site	probably benign
R2413:Bcas3	UTSW	11	85531855	missense	probably damaging	1.00
R3694:Bcas3	UTSW	11	85801802	missense	probably benign	0.00
R3880:Bcas3	UTSW	11	85371122	missense	probably benign	0.02
R4241:Bcas3	UTSW	11	85470826	missense	probably damaging	0.99
R4794:Bcas3	UTSW	11	85509468	missense	probably damaging	1.00
R5035:Bcas3	UTSW	11	85543945	missense	probably damaging	1.00
R5073:Bcas3	UTSW	11	85371132	missense	probably damaging	1.00
R5245:Bcas3	UTSW	11	85559086	missense	probably damaging	1.00
R5358:Bcas3	UTSW	11	85451755	missense	probably benign	0.02
R5395:Bcas3	UTSW	11	85825249	missense	probably damaging	0.99
R5615:Bcas3	UTSW	11	85470761	missense	probably damaging	1.00
R5753:Bcas3	UTSW	11	85822084	intron	probably benign
R6198:Bcas3	UTSW	11	85509435	missense	probably damaging	0.99
R6668:Bcas3	UTSW	11	85801851	missense	probably damaging	0.98
R7170:Bcas3	UTSW	11	85495918	missense	probably damaging	0.96
R7171:Bcas3	UTSW	11	85583937	missense	probably damaging	1.00
R7672:Bcas3	UTSW	11	85395387	nonsense	probably null
R7689:Bcas3	UTSW	11	85495887	missense	probably benign	0.10
R7912:Bcas3	UTSW	11	85371128	missense	probably damaging	1.00
R8260:Bcas3	UTSW	11	85509546	missense	possibly damaging	0.50
R8292:Bcas3	UTSW	11	85457903	missense	probably damaging	0.99
R8334:Bcas3	UTSW	11	85576811	missense	possibly damaging	0.60
R8716:Bcas3	UTSW	11	85581042	missense	probably damaging	1.00
R8812:Bcas3	UTSW	11	85559147	missense	probably benign
R9300:Bcas3	UTSW	11	85557358	missense	probably damaging	1.00
V3553:Bcas3	UTSW	11	85822100	intron	probably benign
X0020:Bcas3	UTSW	11	85531808	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GAAGGTACAGACTCAACATCGTC -3'
(R):5'- ATGCTGCTCTAGGTAGGAGAG -3'

Sequencing Primer
(F):5'- AGACTCAACATCGTCTGTCCTG -3'
(R):5'- CTCTAGGTAGGAGAGGGGGTTC -3'

Posted On

2014-10-15