Mutagenetix > Incidental Mutation

Incidental Mutation 'R0257:Bcas3'

34797

Institutional Source

Beutler Lab

Gene Symbol

Bcas3

Ensembl Gene

ENSMUSG00000059439

Gene Name

breast carcinoma amplified sequence 3

Synonyms

2610028P08Rik, 1500019F07Rik, rudhira, K20D4

MMRRC Submission

038488-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.824) question?

Stock #

R0257 (G1)

Quality Score

166

Status

Validated

Chromosome

Chromosomal Location

85353167-85826058 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85822039 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 908 (K908E)

Ref Sequence

ENSEMBL: ENSMUSP00000103697 (fasta)

Gene Model

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

AlphaFold

Q8CCN5

Predicted Effect

probably benign
Transcript: ENSMUST00000074875

SMART Domains

Protein: ENSMUSP00000074416
Gene: ENSMUSG00000059439

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 benign
Transcript: ENSMUST00000092821

SMART Domains

Protein: ENSMUSP00000090496
Gene: ENSMUSG00000059439

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

SMART Domains

Protein: ENSMUSP00000090497
Gene: ENSMUSG00000059439

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: K908E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000103696
Gene: ENSMUSG00000059439
AA Change: K908E

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: K908E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000103697
Gene: ENSMUSG00000059439
AA Change: K908E

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: ENSMUST00000130343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140562

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140673

Predicted Effect

probably benign
Transcript: ENSMUST00000142596

SMART Domains

Protein: ENSMUSP00000122571
Gene: ENSMUSG00000059439

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

probably benign
Transcript: ENSMUST00000149662
AA Change: K50E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120891
Gene: ENSMUSG00000059439
AA Change: K50E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145281

Predicted Effect

probably benign
Transcript: ENSMUST00000154396

SMART Domains

Protein: ENSMUSP00000122154
Gene: ENSMUSG00000059439

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

0.0948

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Ano2	C	A	6: 125,880,713	A505E	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,842,853		probably benign	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Dtx3	T	C	10: 127,192,892	D159G	probably benign	Het
Ets2	T	A	16: 95,712,201	C140*	probably null	Het
Fbf1	T	C	11: 116,155,091	I226V	probably benign	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898	T179A	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Lama4	T	C	10: 39,094,884		probably benign	Het
Luzp2	A	G	7: 55,249,446	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Myo1c	A	T	11: 75,665,516		probably null	Het
Nek5	T	C	8: 22,123,672		probably benign	Het
Nrxn2	A	G	19: 6,490,698	I894V	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pde4a	C	T	9: 21,192,421	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Prob1	T	C	18: 35,653,039	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,681	M199L	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
St18	T	A	1: 6,819,962	F539L	probably benign	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,858,622	S512N	probably benign	Het
Tiam2	T	C	17: 3,450,813	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Wdr31	A	G	4: 62,460,518		probably null	Het
Zfp458	T	A	13: 67,259,642	K47*	probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	probably benign	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
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
R2215:Bcas3	UTSW	11	85801943	missense	probably damaging	0.99
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
R9709:Bcas3	UTSW	11	85583923	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'- TGAAAACTTGTCAGCCTGCCTCC -3'
(R):5'- TCCTCCAAAGACACCAGAGTGAGAG -3'

Sequencing Primer
(F):5'- TGTCACTGCATGGGCCATAG -3'
(R):5'- CACCAGAGTGAGAGTGTGTG -3'

Posted On

2013-05-09