Mutagenetix > Incidental Mutation

Incidental Mutation 'V3553:Bcas3'

44057

Institutional Source

Beutler Lab

Gene Symbol

Bcas3

Ensembl Gene

ENSMUSG00000059439

Gene Name

BCAS3 microtubule associated cell migration factor

Synonyms

rudhira, 1500019F07Rik, Phaf2, breast carcinoma amplified sequence 3, K20D4, 2610028P08Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.768) question?

Stock #

V3553 () of strain feckless

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85243993-85716884 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 85712926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

unknown
Transcript: ENSMUST00000108061
AA Change: R928Q

SMART Domains

Protein: ENSMUSP00000103696
Gene: ENSMUSG00000059439
AA Change: R928Q

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

unknown
Transcript: ENSMUST00000108062
AA Change: R928Q

SMART Domains

Protein: ENSMUSP00000103697
Gene: ENSMUSG00000059439
AA Change: R928Q

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: ENSMUST00000145281

Predicted Effect

unknown
Transcript: ENSMUST00000149662
AA Change: R70Q

SMART Domains

Protein: ENSMUSP00000120891
Gene: ENSMUSG00000059439
AA Change: R70Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140562

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140673

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

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bicral	G	T	17: 47,141,021 (GRCm39)	N20K	probably damaging	Het
Dnah9	C	A	11: 65,860,902 (GRCm39)	G2823C	probably damaging	Het
Hcfc2	T	C	10: 82,547,895 (GRCm39)	W296R	probably damaging	Het
Lrp1	C	T	10: 127,407,311 (GRCm39)	G1877S	probably damaging	Het
Rhbdf1	G	A	11: 32,161,583 (GRCm39)	P575L	probably damaging	Het
Sh3pxd2a	G	A	19: 47,255,658 (GRCm39)	P1048L	probably benign	Het
Tgm5	C	T	2: 120,901,983 (GRCm39)	V229I	probably damaging	Het
Tmem167	A	C	13: 90,246,585 (GRCm39)	K36N	probably damaging	Het
Tnfrsf21	G	A	17: 43,348,822 (GRCm39)	A145T	probably benign	Het
Zfp84	G	T	7: 29,476,672 (GRCm39)	A455S	probably benign	Het

Other mutations in Bcas3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Bcas3	APN	11	85,256,417 (GRCm39)	missense	probably damaging	0.98
IGL00754:Bcas3	APN	11	85,386,649 (GRCm39)	splice site	probably benign
IGL01712:Bcas3	APN	11	85,471,874 (GRCm39)	missense	probably damaging	0.99
IGL02073:Bcas3	APN	11	85,448,263 (GRCm39)	missense	probably damaging	1.00
IGL02261:Bcas3	APN	11	85,422,756 (GRCm39)	missense	probably damaging	1.00
IGL02323:Bcas3	APN	11	85,386,671 (GRCm39)	missense	probably damaging	0.97
IGL02493:Bcas3	APN	11	85,386,708 (GRCm39)	missense	probably damaging	0.99
IGL02609:Bcas3	APN	11	85,348,720 (GRCm39)	missense	probably damaging	1.00
IGL02808:Bcas3	APN	11	85,386,677 (GRCm39)	missense	probably benign	0.02
IGL03085:Bcas3	APN	11	85,367,609 (GRCm39)	missense	probably damaging	1.00
IGL03263:Bcas3	APN	11	85,712,948 (GRCm39)	intron	probably benign
FR4340:Bcas3	UTSW	11	85,400,323 (GRCm39)	missense	probably benign	0.12
FR4342:Bcas3	UTSW	11	85,400,323 (GRCm39)	missense	probably benign	0.12
FR4589:Bcas3	UTSW	11	85,400,323 (GRCm39)	missense	probably benign	0.12
IGL02991:Bcas3	UTSW	11	85,348,713 (GRCm39)	nonsense	probably null
PIT4377001:Bcas3	UTSW	11	85,386,668 (GRCm39)	missense	probably damaging	0.98
PIT4472001:Bcas3	UTSW	11	85,422,726 (GRCm39)	missense	probably damaging	0.99
R0145:Bcas3	UTSW	11	85,250,436 (GRCm39)	splice site	probably benign
R0257:Bcas3	UTSW	11	85,712,865 (GRCm39)	missense	probably benign	0.00
R0276:Bcas3	UTSW	11	85,361,663 (GRCm39)	critical splice donor site	probably null
R0485:Bcas3	UTSW	11	85,386,676 (GRCm39)	missense	probably damaging	0.99
R1053:Bcas3	UTSW	11	85,448,236 (GRCm39)	missense	probably benign	0.10
R1833:Bcas3	UTSW	11	85,474,775 (GRCm39)	missense	probably benign	0.00
R2107:Bcas3	UTSW	11	85,348,704 (GRCm39)	missense	probably damaging	0.97
R2108:Bcas3	UTSW	11	85,348,704 (GRCm39)	missense	probably damaging	0.97
R2215:Bcas3	UTSW	11	85,692,769 (GRCm39)	missense	probably damaging	0.99
R2404:Bcas3	UTSW	11	85,245,715 (GRCm39)	splice site	probably benign
R2413:Bcas3	UTSW	11	85,422,681 (GRCm39)	missense	probably damaging	1.00
R3694:Bcas3	UTSW	11	85,692,628 (GRCm39)	missense	probably benign	0.00
R3880:Bcas3	UTSW	11	85,261,948 (GRCm39)	missense	probably benign	0.02
R4241:Bcas3	UTSW	11	85,361,652 (GRCm39)	missense	probably damaging	0.99
R4794:Bcas3	UTSW	11	85,400,294 (GRCm39)	missense	probably damaging	1.00
R5035:Bcas3	UTSW	11	85,434,771 (GRCm39)	missense	probably damaging	1.00
R5073:Bcas3	UTSW	11	85,261,958 (GRCm39)	missense	probably damaging	1.00
R5245:Bcas3	UTSW	11	85,449,912 (GRCm39)	missense	probably damaging	1.00
R5358:Bcas3	UTSW	11	85,342,581 (GRCm39)	missense	probably benign	0.02
R5395:Bcas3	UTSW	11	85,716,075 (GRCm39)	missense	probably damaging	0.99
R5615:Bcas3	UTSW	11	85,361,587 (GRCm39)	missense	probably damaging	1.00
R5753:Bcas3	UTSW	11	85,712,910 (GRCm39)	intron	probably benign
R6198:Bcas3	UTSW	11	85,400,261 (GRCm39)	missense	probably damaging	0.99
R6668:Bcas3	UTSW	11	85,692,677 (GRCm39)	missense	probably damaging	0.98
R7170:Bcas3	UTSW	11	85,386,744 (GRCm39)	missense	probably damaging	0.96
R7171:Bcas3	UTSW	11	85,474,763 (GRCm39)	missense	probably damaging	1.00
R7672:Bcas3	UTSW	11	85,286,213 (GRCm39)	nonsense	probably null
R7689:Bcas3	UTSW	11	85,386,713 (GRCm39)	missense	probably benign	0.10
R7912:Bcas3	UTSW	11	85,261,954 (GRCm39)	missense	probably damaging	1.00
R8260:Bcas3	UTSW	11	85,400,372 (GRCm39)	missense	possibly damaging	0.50
R8292:Bcas3	UTSW	11	85,348,729 (GRCm39)	missense	probably damaging	0.99
R8334:Bcas3	UTSW	11	85,467,637 (GRCm39)	missense	possibly damaging	0.60
R8716:Bcas3	UTSW	11	85,471,868 (GRCm39)	missense	probably damaging	1.00
R8812:Bcas3	UTSW	11	85,449,973 (GRCm39)	missense	probably benign
R9300:Bcas3	UTSW	11	85,448,184 (GRCm39)	missense	probably damaging	1.00
R9709:Bcas3	UTSW	11	85,474,749 (GRCm39)	missense	probably damaging	1.00
X0020:Bcas3	UTSW	11	85,422,634 (GRCm39)	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

2013-05-31