Mutagenetix > Incidental Mutation

Incidental Mutation 'R7171:Bcas3'

558289

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

045230-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.815) question?

Stock #

R7171 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85243993-85716884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85474763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 790 (S790P)

Ref Sequence

ENSEMBL: ENSMUSP00000090496 (fasta)

Gene Model

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

AlphaFold

Q8CCN5

Predicted Effect

probably damaging
Transcript: ENSMUST00000074875
AA Change: S805P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074416
Gene: ENSMUSG00000059439
AA Change: S805P

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: S790P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090496
Gene: ENSMUSG00000059439
AA Change: S790P

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 damaging
Transcript: ENSMUST00000092822
AA Change: S313P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090497
Gene: ENSMUSG00000059439
AA Change: S313P

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 damaging
Transcript: ENSMUST00000108061
AA Change: S805P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103696
Gene: ENSMUSG00000059439
AA Change: S805P

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: S805P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103697
Gene: ENSMUSG00000059439
AA Change: S805P

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

SMART Domains

Protein: ENSMUSP00000122571
Gene: ENSMUSG00000059439
AA Change: S331P

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

SMART Domains

Protein: ENSMUSP00000122154
Gene: ENSMUSG00000059439
AA Change: S569P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (81/81)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519P11Rik	T	C	2: 154,454,897 (GRCm39)	N154S	unknown	Het
Ank3	C	T	10: 69,828,311 (GRCm39)	H2327Y		Het
Ano6	A	G	15: 95,818,172 (GRCm39)	Y305C	probably damaging	Het
Apc2	A	G	10: 80,151,170 (GRCm39)	T2075A	possibly damaging	Het
Arl6	A	G	16: 59,443,455 (GRCm39)	V93A	possibly damaging	Het
Bcl9l	C	A	9: 44,416,448 (GRCm39)	H211N	probably benign	Het
Bptf	G	T	11: 107,022,233 (GRCm39)	D172E	unknown	Het
Card9	T	G	2: 26,249,496 (GRCm39)	I22L	possibly damaging	Het
Catsperg1	C	A	7: 28,884,637 (GRCm39)	G933V	probably damaging	Het
Catsperg2	T	A	7: 29,404,750 (GRCm39)	H771L	possibly damaging	Het
Ccdc66	T	C	14: 27,215,229 (GRCm39)	N281S	possibly damaging	Het
Cfap54	A	T	10: 92,612,072 (GRCm39)	L3162H	probably damaging	Het
Clca4a	A	G	3: 144,663,934 (GRCm39)	L503P	probably benign	Het
Cpn1	T	C	19: 43,962,470 (GRCm39)	N160D	probably damaging	Het
Ctsh	T	A	9: 89,949,154 (GRCm39)	I206K	probably benign	Het
Cyb561d1	G	A	3: 108,106,679 (GRCm39)	T180M	probably damaging	Het
Dapk1	A	T	13: 60,909,599 (GRCm39)	D1404V	probably damaging	Het
Dip2c	G	T	13: 9,556,684 (GRCm39)	R76L	probably benign	Het
Dnah7c	T	C	1: 46,719,898 (GRCm39)	I2783T	probably damaging	Het
E130308A19Rik	T	C	4: 59,690,333 (GRCm39)	Y56H	probably damaging	Het
Efemp2	G	T	19: 5,530,285 (GRCm39)	A310S	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Faap24	G	A	7: 35,092,279 (GRCm39)	Q213*	probably null	Het
Fam181b	G	A	7: 92,729,943 (GRCm39)	G239S	possibly damaging	Het
Fancm	T	C	12: 65,148,394 (GRCm39)	W670R	probably damaging	Het
Fcgbpl1	T	A	7: 27,853,944 (GRCm39)	L1636*	probably null	Het
Fmnl1	T	C	11: 103,081,224 (GRCm39)	Y357H	probably damaging	Het
Fryl	A	T	5: 73,279,653 (GRCm39)	V215E	probably damaging	Het
Fscn2	C	A	11: 120,253,335 (GRCm39)	N267K	probably damaging	Het
Fsip2	T	A	2: 82,816,571 (GRCm39)	Y4101*	probably null	Het
Gcn1	G	A	5: 115,728,352 (GRCm39)	V738I	probably benign	Het
Gdf9	C	T	11: 53,328,366 (GRCm39)	R441C	probably damaging	Het
Gipc3	C	T	10: 81,177,455 (GRCm39)	G79E	probably damaging	Het
Gzmf	T	A	14: 56,443,391 (GRCm39)	I196L	probably benign	Het
Hectd1	A	T	12: 51,806,080 (GRCm39)	V1852E	probably damaging	Het
Hip1r	A	T	5: 124,134,007 (GRCm39)	Q256L	probably benign	Het
Hmgxb4	T	C	8: 75,746,890 (GRCm39)	S405P	probably damaging	Het
Il9r	T	A	11: 32,142,671 (GRCm39)	H294L	probably benign	Het
Kif12	G	A	4: 63,086,931 (GRCm39)	T331I	probably damaging	Het
Krtap8-1	A	T	16: 89,284,794 (GRCm39)	M1K	probably null	Het
Lamc2	A	T	1: 153,015,495 (GRCm39)	C613S	probably damaging	Het
Lgr4	T	A	2: 109,831,314 (GRCm39)	N314K	probably benign	Het
Lpcat2	T	C	8: 93,635,894 (GRCm39)	I432T	probably benign	Het
Mfhas1	T	C	8: 36,056,146 (GRCm39)	V207A	probably benign	Het
Msh3	T	G	13: 92,485,806 (GRCm39)	T173P	probably benign	Het
Mup15	T	A	4: 61,356,505 (GRCm39)	M87L	probably benign	Het
N4bp2	T	C	5: 65,965,365 (GRCm39)	V1138A	probably benign	Het
Noc2l	T	C	4: 156,326,179 (GRCm39)	V422A	probably benign	Het
Notch3	C	T	17: 32,377,936 (GRCm39)	G74D	probably damaging	Het
Ocstamp	T	A	2: 165,240,081 (GRCm39)	K35I	probably benign	Het
Or12k7	T	C	2: 36,958,400 (GRCm39)	F28L	possibly damaging	Het
Or52w1	A	G	7: 105,017,968 (GRCm39)	H145R	probably benign	Het
Or5p58	A	G	7: 107,694,342 (GRCm39)	V145A	probably benign	Het
Or9a2	T	G	6: 41,748,961 (GRCm39)	T91P	probably benign	Het
Plekhh2	T	A	17: 84,829,216 (GRCm39)	V29D	probably damaging	Het
Pof1b	A	G	X: 111,554,042 (GRCm39)	I544T	probably benign	Het
Rad54l2	C	T	9: 106,590,677 (GRCm39)	R483H	probably damaging	Het
Rapgef6	T	A	11: 54,567,189 (GRCm39)	D1128E	possibly damaging	Het
Rhbdl2	T	A	4: 123,708,049 (GRCm39)	I86N	possibly damaging	Het
Rims1	C	A	1: 22,498,740 (GRCm39)	R68L		Het
Rnf157	A	G	11: 116,253,199 (GRCm39)	F70L	possibly damaging	Het
Rtp3	C	T	9: 110,815,009 (GRCm39)	C452Y	unknown	Het
S100a14	A	T	3: 90,435,069 (GRCm39)	K27*	probably null	Het
Scai	C	T	2: 38,996,948 (GRCm39)	G282D	possibly damaging	Het
Sclt1	A	T	3: 41,672,195 (GRCm39)	I132N	probably benign	Het
Serpinf1	T	A	11: 75,308,811 (GRCm39)	Q2L	possibly damaging	Het
Skor2	T	A	18: 76,948,681 (GRCm39)	V801E	probably benign	Het
Slc16a10	C	G	10: 39,913,255 (GRCm39)	E484D	probably benign	Het
Slc1a5	T	A	7: 16,531,463 (GRCm39)	D489E	probably damaging	Het
Slx4	C	T	16: 3,808,650 (GRCm39)	R430H	probably benign	Het
Teddm1b	A	T	1: 153,750,679 (GRCm39)	I163F	probably damaging	Het
Tmem171	A	T	13: 98,828,744 (GRCm39)	C135*	probably null	Het
Tmem82	C	T	4: 141,342,284 (GRCm39)	R306H	possibly damaging	Het
Tmem94	T	A	11: 115,681,781 (GRCm39)		probably null	Het
Trpm2	A	C	10: 77,759,848 (GRCm39)	L1096R	probably damaging	Het
Trrap	T	A	5: 144,730,859 (GRCm39)	L780Q	probably damaging	Het
Txlnb	A	G	10: 17,718,732 (GRCm39)	D521G	probably benign	Het
Usp7	T	C	16: 8,534,390 (GRCm39)	D59G	probably benign	Het
Vcan	G	A	13: 89,873,710 (GRCm39)	T48I	probably damaging	Het
Vmn1r45	A	G	6: 89,910,316 (GRCm39)	L218P	probably damaging	Het
Wdr25	A	T	12: 108,990,922 (GRCm39)	T370S	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
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
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'- CAGGAGAATGGCAAGCTCTTG -3'
(R):5'- GCCCAGCAGTTTTCAGTAGC -3'

Sequencing Primer
(F):5'- AGTTTGGGACTGAGGCTCC -3'
(R):5'- TTTTCAGTAGCAAACAGAGGCAC -3'

Posted On

2019-06-26