Mutagenetix > Incidental Mutation

Incidental Mutation 'R0485:Bcas3'

42224

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

MMRRC Submission

038684-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.815) question?

Stock #

R0485 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85243993-85716884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85386676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 370 (D370E)

Ref Sequence

ENSEMBL: ENSMUSP00000103697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074875] [ENSMUST00000092821] [ENSMUST00000108056] [ENSMUST00000108061] [ENSMUST00000108062] [ENSMUST00000144276]

AlphaFold

Q8CCN5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074875
AA Change: D370E

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074416
Gene: ENSMUSG00000059439
AA Change: D370E

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

possibly damaging
Transcript: ENSMUST00000092821
AA Change: D370E

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000090496
Gene: ENSMUSG00000059439
AA Change: D370E

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

possibly damaging
Transcript: ENSMUST00000108056
AA Change: D370E

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103691
Gene: ENSMUSG00000059439
AA Change: D370E

Domain	Start	End	E-Value	Type
Blast:WD40	56	104	7e-18	BLAST
WD40	340	380	7.7e-1	SMART
WD40	390	433	2.47e1	SMART
low complexity region	480	494	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108061
AA Change: D370E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103696
Gene: ENSMUSG00000059439
AA Change: D370E

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 damaging
Transcript: ENSMUST00000108062
AA Change: D370E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103697
Gene: ENSMUSG00000059439
AA Change: D370E

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: ENSMUST00000140215

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144276
AA Change: D124E

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114415
Gene: ENSMUSG00000059439
AA Change: D124E

Domain	Start	End	E-Value	Type
WD40	94	134	7.7e-1	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000154396
AA Change: D149E

SMART Domains

Protein: ENSMUSP00000122154
Gene: ENSMUSG00000059439
AA Change: D149E

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

noncoding transcript
Transcript: ENSMUST00000157154

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

Validation Efficiency

100% (95/95)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	A	G	16: 3,725,511 (GRCm39)	V5A	probably damaging	Het
Abi3bp	A	G	16: 56,424,375 (GRCm39)		probably null	Het
Acot11	G	A	4: 106,619,224 (GRCm39)	R184C	probably damaging	Het
Adgre5	A	T	8: 84,458,627 (GRCm39)	I133N	probably damaging	Het
Afap1	A	T	5: 36,108,347 (GRCm39)	Q231L	probably damaging	Het
Alg12	T	C	15: 88,695,630 (GRCm39)	T289A	probably benign	Het
Ank3	T	A	10: 69,718,374 (GRCm39)	S542T	possibly damaging	Het
Ankmy2	G	A	12: 36,232,389 (GRCm39)	R138Q	possibly damaging	Het
Ascc2	C	T	11: 4,622,302 (GRCm39)	A456V	probably benign	Het
Atg4c	G	A	4: 99,112,719 (GRCm39)	V289I	probably benign	Het
Bbs7	A	T	3: 36,657,022 (GRCm39)	Y269N	probably damaging	Het
Bicc1	T	G	10: 70,761,145 (GRCm39)	E955A	probably damaging	Het
Bok	T	C	1: 93,616,999 (GRCm39)	F115S	probably damaging	Het
Caap1	A	T	4: 94,438,758 (GRCm39)		probably null	Het
Cacna2d3	T	A	14: 29,256,476 (GRCm39)	M95L	possibly damaging	Het
Calcrl	T	A	2: 84,200,435 (GRCm39)	D115V	probably benign	Het
Car7	A	T	8: 105,270,170 (GRCm39)	M57L	probably benign	Het
Casq1	G	T	1: 172,037,957 (GRCm39)		probably benign	Het
Cep290	A	T	10: 100,385,206 (GRCm39)	D1894V	possibly damaging	Het
Clec4a2	T	A	6: 123,100,588 (GRCm39)	N14K	probably damaging	Het
Col16a1	G	T	4: 129,984,290 (GRCm39)		probably benign	Het
Col5a1	T	C	2: 27,880,109 (GRCm39)		probably benign	Het
Col5a2	A	T	1: 45,417,642 (GRCm39)	I1311N	probably damaging	Het
Col5a3	T	C	9: 20,694,004 (GRCm39)	T1050A	probably damaging	Het
Colgalt2	A	T	1: 152,360,622 (GRCm39)	I220F	probably damaging	Het
Cpb1	A	T	3: 20,329,792 (GRCm39)	V8E	unknown	Het
Dchs1	C	T	7: 105,421,934 (GRCm39)	R162H	probably benign	Het
Dhx37	A	G	5: 125,499,295 (GRCm39)	Y638H	probably benign	Het
Dhx40	T	G	11: 86,662,088 (GRCm39)		probably benign	Het
Ehd2	T	A	7: 15,686,001 (GRCm39)	Q357L	probably benign	Het
Ewsr1	T	C	11: 5,020,737 (GRCm39)		probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Gid8	T	A	2: 180,355,004 (GRCm39)	Y3*	probably null	Het
Gm10212	A	C	19: 11,548,174 (GRCm39)		noncoding transcript	Het
Grin3b	T	A	10: 79,809,890 (GRCm39)	N465K	possibly damaging	Het
H1f3	A	T	13: 23,739,924 (GRCm39)	K221*	probably null	Het
Htr4	A	T	18: 62,561,225 (GRCm39)	N162I	probably damaging	Het
Irag2	T	C	6: 145,110,938 (GRCm39)	C248R	probably damaging	Het
Itga3	T	C	11: 94,952,796 (GRCm39)	D325G	probably benign	Het
Itpr3	T	G	17: 27,330,903 (GRCm39)	V1737G	probably damaging	Het
Kcnab2	C	T	4: 152,479,439 (GRCm39)	V251I	probably benign	Het
Kcnn2	A	T	18: 45,693,215 (GRCm39)	I264L	probably benign	Het
Klhl41	T	C	2: 69,501,600 (GRCm39)	Y354H	probably damaging	Het
Klra6	T	C	6: 130,000,601 (GRCm39)	I68V	probably benign	Het
Letm2	G	T	8: 26,082,574 (GRCm39)	P178Q	probably damaging	Het
Lypd11	C	A	7: 24,422,170 (GRCm39)	C193F	possibly damaging	Het
Mbtps1	A	T	8: 120,249,340 (GRCm39)		probably benign	Het
Mecom	C	T	3: 30,035,121 (GRCm39)		probably benign	Het
Mrps5	T	A	2: 127,433,745 (GRCm39)	S45T	possibly damaging	Het
Msra	T	A	14: 64,678,210 (GRCm39)	I29F	possibly damaging	Het
Mup5	T	C	4: 61,751,229 (GRCm39)		probably null	Het
Myo1a	T	C	10: 127,555,111 (GRCm39)		probably benign	Het
Myrip	C	A	9: 120,270,443 (GRCm39)	N564K	probably benign	Het
Naa20	T	A	2: 145,757,592 (GRCm39)	D148E	probably damaging	Het
Naga	T	G	15: 82,220,956 (GRCm39)		probably benign	Het
Npc1	A	G	18: 12,346,503 (GRCm39)	V231A	probably benign	Het
Nphs1	T	C	7: 30,166,940 (GRCm39)	F716L	probably benign	Het
Or8s5	T	C	15: 98,238,810 (GRCm39)	H20R	probably benign	Het
Parn	G	C	16: 13,472,299 (GRCm39)		probably benign	Het
Polk	A	T	13: 96,620,272 (GRCm39)	C664S	probably benign	Het
Prkar2b	A	G	12: 32,026,034 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,651,604 (GRCm39)	E3747G	probably damaging	Het
Prmt5	A	T	14: 54,748,712 (GRCm39)	M362K	probably damaging	Het
Prob1	T	C	18: 35,786,878 (GRCm39)	T459A	possibly damaging	Het
Rttn	C	T	18: 89,108,543 (GRCm39)		probably benign	Het
Scn1a	T	C	2: 66,104,269 (GRCm39)	M1664V	probably damaging	Het
Sez6	T	A	11: 77,844,639 (GRCm39)	L154H	probably damaging	Het
Sh3tc1	A	G	5: 35,859,356 (GRCm39)		probably benign	Het
Shkbp1	C	T	7: 27,048,006 (GRCm39)	G334D	probably damaging	Het
Slc8a1	A	T	17: 81,955,422 (GRCm39)	F539I	probably damaging	Het
Spata31e5	G	T	1: 28,817,223 (GRCm39)	Q270K	probably damaging	Het
Sptan1	T	C	2: 29,903,860 (GRCm39)		probably benign	Het
Ssc5d	C	T	7: 4,940,470 (GRCm39)	T861M	probably damaging	Het
Tbx5	A	T	5: 120,021,523 (GRCm39)	M510L	probably benign	Het
Tdp1	A	G	12: 99,876,101 (GRCm39)	T351A	probably benign	Het
Tmc8	T	A	11: 117,682,904 (GRCm39)		probably benign	Het
Tmco5	T	A	2: 116,720,588 (GRCm39)	D205E	probably benign	Het
Tmprss2	T	C	16: 97,373,194 (GRCm39)		probably benign	Het
Top6bl	A	T	19: 4,708,442 (GRCm39)	I350N	probably damaging	Het
Tph1	T	A	7: 46,299,448 (GRCm39)	K364N	probably benign	Het
Trim24	T	C	6: 37,934,001 (GRCm39)	L648P	probably damaging	Het
Trmt6	C	A	2: 132,650,950 (GRCm39)		probably benign	Het
Ube2i	A	T	17: 25,488,259 (GRCm39)		probably benign	Het
Vcan	A	C	13: 89,852,779 (GRCm39)	L727R	possibly damaging	Het
Vmn2r28	T	C	7: 5,491,689 (GRCm39)	Y186C	probably damaging	Het
Wars1	C	A	12: 108,841,083 (GRCm39)	D232Y	probably damaging	Het
Xrcc5	T	C	1: 72,378,104 (GRCm39)		probably benign	Het
Zbtb24	T	A	10: 41,340,532 (GRCm39)	S543T	probably damaging	Het
Zfp91	A	G	19: 12,753,353 (GRCm39)		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
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
V3553:Bcas3	UTSW	11	85,712,926 (GRCm39)	intron	probably benign
X0020:Bcas3	UTSW	11	85,422,634 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GCTCATAAAGGACATCCTGCTTCCTC -3'
(R):5'- CAGGCTGATCTACTTACATGTCAGCATT -3'

Sequencing Primer
(F):5'- GGACATCCTGCTTCCTCTGTTTAG -3'
(R):5'- ccactgaagaacagcaagaac -3'

Posted On

2013-05-23