Mutagenetix > Incidental Mutation

Incidental Mutation 'R0276:Bcas3'

35398

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

038498-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.815) question?

Stock #

R0276 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85243993-85716884 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 85361663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8CCN5

Predicted Effect

probably null
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 null
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 null
Transcript: ENSMUST00000108056

SMART Domains

Protein: ENSMUSP00000103691
Gene: ENSMUSG00000059439

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 null
Transcript: ENSMUST00000108061

SMART Domains

Protein: ENSMUSP00000103696
Gene: ENSMUSG00000059439

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 null
Transcript: ENSMUST00000108062

SMART Domains

Protein: ENSMUSP00000103697
Gene: ENSMUSG00000059439

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

probably null
Transcript: ENSMUST00000144276

SMART Domains

Protein: ENSMUSP00000114415
Gene: ENSMUSG00000059439

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

Predicted Effect

probably null
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

0.9496

Coding Region Coverage

1x: 98.7%
3x: 97.8%
10x: 96.2%
20x: 93.8%

Validation Efficiency

98% (101/103)

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	G	2: 26,865,772 (GRCm39)	N109S	possibly damaging	Het
Adcy10	T	A	1: 165,400,160 (GRCm39)	M1523K	possibly damaging	Het
Agtpbp1	C	T	13: 59,609,845 (GRCm39)	S1095N	possibly damaging	Het
Ang2	C	T	14: 51,432,975 (GRCm39)	V136I	probably damaging	Het
Arhgap10	A	T	8: 78,140,210 (GRCm39)	M250K	probably benign	Het
Arhgap33	A	T	7: 30,222,669 (GRCm39)	W1088R	probably benign	Het
Arhgef15	T	C	11: 68,844,298 (GRCm39)		probably benign	Het
Aspm	T	C	1: 139,406,209 (GRCm39)	S1699P	possibly damaging	Het
Atp12a	C	A	14: 56,625,151 (GRCm39)	D1014E	probably damaging	Het
Atp1a4	T	A	1: 172,085,468 (GRCm39)	K45M	probably damaging	Het
Atp8a1	A	T	5: 67,944,016 (GRCm39)		probably benign	Het
Baiap3	A	C	17: 25,462,661 (GRCm39)	F1099C	probably damaging	Het
Bms1	G	A	6: 118,385,095 (GRCm39)	T371M	possibly damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Capn3	T	C	2: 120,318,546 (GRCm39)		probably benign	Het
Ccdc180	A	G	4: 45,923,534 (GRCm39)	D1105G	probably damaging	Het
Ccdc33	G	T	9: 57,965,675 (GRCm39)	P364Q	probably damaging	Het
Clstn3	A	G	6: 124,408,699 (GRCm39)		probably benign	Het
Cntrl	A	T	2: 35,041,744 (GRCm39)	Y619F	possibly damaging	Het
Col12a1	A	T	9: 79,538,023 (GRCm39)	Y2514*	probably null	Het
Cpt1b	T	C	15: 89,304,162 (GRCm39)	H503R	probably benign	Het
Crb1	T	A	1: 139,251,073 (GRCm39)	T293S	possibly damaging	Het
D130043K22Rik	C	T	13: 25,042,028 (GRCm39)	T319I	possibly damaging	Het
Dnaaf10	T	C	11: 17,179,821 (GRCm39)	I274T	probably benign	Het
Dzip1l	G	A	9: 99,543,051 (GRCm39)	R502Q	probably benign	Het
Efcab5	A	G	11: 77,020,702 (GRCm39)	M673T	probably damaging	Het
Efcab5	G	A	11: 77,031,749 (GRCm39)	R42W	probably damaging	Het
F2rl3	A	G	8: 73,489,426 (GRCm39)	T218A	probably benign	Het
Fam135a	C	T	1: 24,107,045 (GRCm39)	R31H	probably damaging	Het
Fcer2a	A	T	8: 3,739,811 (GRCm39)	N53K	possibly damaging	Het
Golgb1	A	C	16: 36,734,238 (GRCm39)	K1162Q	probably damaging	Het
Gpr137b	A	T	13: 13,542,160 (GRCm39)		probably benign	Het
Haspin	A	T	11: 73,027,313 (GRCm39)	L592Q	probably damaging	Het
Helq	A	G	5: 100,938,013 (GRCm39)	F478L	probably damaging	Het
Iho1	A	T	9: 108,305,639 (GRCm39)	M11K	possibly damaging	Het
Il17rb	T	A	14: 29,726,337 (GRCm39)	T84S	probably damaging	Het
Itga4	T	C	2: 79,151,837 (GRCm39)	L880P	probably damaging	Het
Itih5	A	G	2: 10,190,375 (GRCm39)	I61V	possibly damaging	Het
Ivl	G	A	3: 92,478,821 (GRCm39)	L415F	unknown	Het
Kif2a	A	G	13: 107,113,158 (GRCm39)		probably benign	Het
Kmt2d	T	C	15: 98,748,192 (GRCm39)		probably benign	Het
Lars2	A	G	9: 123,267,186 (GRCm39)		probably benign	Het
Lilrb4a	T	C	10: 51,367,677 (GRCm39)	V73A	probably benign	Het
Lratd2	G	T	15: 60,695,523 (GRCm39)	Y74*	probably null	Het
Lrrc8a	A	G	2: 30,146,800 (GRCm39)	D538G	possibly damaging	Het
Lrrk1	G	A	7: 65,946,011 (GRCm39)		probably benign	Het
Mc2r	A	T	18: 68,541,203 (GRCm39)	I30K	possibly damaging	Het
Mybbp1a	C	A	11: 72,340,933 (GRCm39)		probably null	Het
Napg	C	T	18: 63,120,034 (GRCm39)	R149C	probably damaging	Het
Ncam2	A	G	16: 81,314,517 (GRCm39)		probably benign	Het
Nlk	T	C	11: 78,462,301 (GRCm39)	I509V	probably benign	Het
Nlrp2	A	T	7: 5,331,108 (GRCm39)	N429K	probably benign	Het
Nlrp9b	A	G	7: 19,762,423 (GRCm39)	T247A	probably benign	Het
Noxo1	A	T	17: 24,919,136 (GRCm39)		probably null	Het
Or1n1b	A	T	2: 36,780,035 (GRCm39)	M275K	probably benign	Het
Or2ag2b	A	T	7: 106,417,904 (GRCm39)	I205L	probably benign	Het
Or3a10	A	G	11: 73,935,944 (GRCm39)	I52T	probably damaging	Het
Or4c107	T	A	2: 88,789,099 (GRCm39)	C96*	probably null	Het
Or4m1	C	A	14: 50,557,636 (GRCm39)	A219S	probably benign	Het
Oxr1	T	C	15: 41,683,458 (GRCm39)	S294P	probably damaging	Het
Pfpl	A	G	19: 12,406,601 (GRCm39)	Y284C	probably damaging	Het
Pi16	A	T	17: 29,545,917 (GRCm39)	T232S	probably benign	Het
Plcxd2	A	T	16: 45,830,070 (GRCm39)	N50K	probably benign	Het
Plekhn1	T	A	4: 156,312,703 (GRCm39)	N52Y	probably damaging	Het
Prl2c5	T	C	13: 13,357,634 (GRCm39)		probably benign	Het
Prrc2b	G	A	2: 32,109,666 (GRCm39)	V1080I	probably damaging	Het
Psg28	A	T	7: 18,164,321 (GRCm39)	N130K	probably benign	Het
Psme4	C	A	11: 30,761,980 (GRCm39)	T440K	probably damaging	Het
Ptcd2	T	C	13: 99,458,104 (GRCm39)	K296E	probably benign	Het
Ptprq	T	C	10: 107,378,596 (GRCm39)		probably null	Het
Rab5b	A	C	10: 128,522,615 (GRCm39)		probably null	Het
Rft1	T	A	14: 30,412,540 (GRCm39)	S534T	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rsu1	A	T	2: 13,174,946 (GRCm39)		probably benign	Het
Senp6	A	G	9: 80,044,029 (GRCm39)	M887V	probably benign	Het
Sgcz	T	A	8: 38,420,073 (GRCm39)	M60L	probably benign	Het
Siglec1	G	A	2: 130,925,861 (GRCm39)	Q282*	probably null	Het
Sipa1l2	T	C	8: 126,148,679 (GRCm39)	T1655A	probably damaging	Het
Slc28a2b	T	A	2: 122,352,409 (GRCm39)	S389T	probably damaging	Het
Slc43a3	G	A	2: 84,768,007 (GRCm39)		probably benign	Het
Snx29	T	C	16: 11,556,237 (GRCm39)	V756A	probably benign	Het
Spta1	T	A	1: 174,045,460 (GRCm39)	H1539Q	probably damaging	Het
Stk3	A	C	15: 35,099,615 (GRCm39)	S104A	probably damaging	Het
Stk38	C	A	17: 29,211,390 (GRCm39)		probably null	Het
Stx6	T	C	1: 155,049,909 (GRCm39)		probably benign	Het
Thbs4	G	A	13: 92,912,040 (GRCm39)	T230I	probably benign	Het
Thrsp	A	G	7: 97,066,709 (GRCm39)	M1T	probably null	Het
Tmem63b	A	T	17: 45,986,299 (GRCm39)		probably benign	Het
Top2a	A	G	11: 98,900,733 (GRCm39)		probably benign	Het
Tpd52l2	T	C	2: 181,143,852 (GRCm39)		probably null	Het
Trak1	A	G	9: 121,283,404 (GRCm39)	E390G	probably damaging	Het
Trappc3	T	A	4: 126,167,745 (GRCm39)	D101E	possibly damaging	Het
Trhr	A	G	15: 44,060,482 (GRCm39)	M1V	probably null	Het
Triobp	T	A	15: 78,857,876 (GRCm39)	I1159K	probably benign	Het
Unc45a	A	G	7: 79,976,045 (GRCm39)		probably benign	Het
Usb1	A	G	8: 96,060,085 (GRCm39)	D12G	probably damaging	Het
Ushbp1	C	T	8: 71,847,293 (GRCm39)	C113Y	possibly damaging	Het
Vim	A	G	2: 13,579,670 (GRCm39)	K143R	probably benign	Het
Vmn2r75	T	C	7: 85,797,515 (GRCm39)	K766R	probably benign	Het
Xpo5	T	G	17: 46,552,433 (GRCm39)	C1089G	probably damaging	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
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
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'- GCTGCTGTCTAATAGCACGCAGAG -3'
(R):5'- TCACTGGGCAAACATCAAGGGG -3'

Sequencing Primer
(F):5'- CTGTCTAATAGCACGCAGAGTTAAAC -3'
(R):5'- GTGTCTAGCTCAACCATGTACAG -3'

Posted On

2013-05-09