Mutagenetix > Incidental Mutation

Incidental Mutation 'R7912:Bcas3'

610615

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 #

R7912 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85243993-85716884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85261954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 96 (G96S)

Ref Sequence

ENSEMBL: ENSMUSP00000103691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074875] [ENSMUST00000092821] [ENSMUST00000108056] [ENSMUST00000108061] [ENSMUST00000108062] [ENSMUST00000138423]

AlphaFold

Q8CCN5

Predicted Effect

probably damaging
Transcript: ENSMUST00000074875
AA Change: G96S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074416
Gene: ENSMUSG00000059439
AA Change: G96S

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: G96S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090496
Gene: ENSMUSG00000059439
AA Change: G96S

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: ENSMUST00000108056
AA Change: G96S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103691
Gene: ENSMUSG00000059439
AA Change: G96S

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: G96S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103696
Gene: ENSMUSG00000059439
AA Change: G96S

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: G96S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103697
Gene: ENSMUSG00000059439
AA Change: G96S

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 damaging
Transcript: ENSMUST00000138423
AA Change: G109S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117559
Gene: ENSMUSG00000059439
AA Change: G109S

Domain	Start	End	E-Value	Type
Blast:WD40	69	117	4e-19	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,120,451 (GRCm39)	T403A	probably benign	Het
Aco1	T	C	4: 40,184,983 (GRCm39)	L551S	probably damaging	Het
Acvr1	C	T	2: 58,364,230 (GRCm39)	V200I	probably damaging	Het
Adam26b	T	A	8: 43,973,245 (GRCm39)	T586S	probably benign	Het
Ahctf1	T	C	1: 179,580,656 (GRCm39)	R1849G	probably benign	Het
Alox5	T	A	6: 116,389,497 (GRCm39)	D590V	probably benign	Het
Anapc5	A	G	5: 122,931,498 (GRCm39)		probably null	Het
Anln	T	C	9: 22,269,965 (GRCm39)	E743G	possibly damaging	Het
Anpep	T	C	7: 79,488,174 (GRCm39)	K496R	probably benign	Het
Aox3	T	A	1: 58,181,855 (GRCm39)	S281T	probably benign	Het
Arhgef11	C	A	3: 87,640,529 (GRCm39)	P1258T	probably damaging	Het
Atp2c2	A	T	8: 120,456,917 (GRCm39)	D173V	possibly damaging	Het
Aurka	T	G	2: 172,210,949 (GRCm39)	D22A	probably benign	Het
B3gat1	A	T	9: 26,666,882 (GRCm39)	D51V	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TGGTTCTGTGGTCAC	TGGTTCTGTGGTCACGGGTTCTGTGGTCAC	3: 95,795,483 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCGCTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,795,466 (GRCm39)		probably benign	Het
BC028528	TTC	TTCGGTGGTCACTGGCTC	3: 95,795,456 (GRCm39)		probably benign	Het
BC028528	GGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT	GGTTCTGTGGTCACTTGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT	3: 95,795,454 (GRCm39)		probably benign	Het
BC028528	CTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA	CTGGTTCTGTGGTCAATGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA	3: 95,795,452 (GRCm39)		probably benign	Het
BC028528	CACTG	CACTGATTCTGTGGTGACTG	3: 95,795,450 (GRCm39)		probably benign	Het
Bltp1	C	T	3: 37,061,218 (GRCm39)	A3309V	probably damaging	Het
C2cd4d	T	A	3: 94,270,860 (GRCm39)	V42D	probably damaging	Het
Ccdc127	T	C	13: 74,505,151 (GRCm39)	L233P	probably damaging	Het
Cdc42bpa	A	G	1: 179,921,578 (GRCm39)	K573E	probably damaging	Het
Cend1	T	C	7: 141,007,544 (GRCm39)	D92G	probably damaging	Het
Crb1	T	C	1: 139,170,909 (GRCm39)	D827G	probably damaging	Het
Cyld	G	T	8: 89,461,525 (GRCm39)	C654F	probably damaging	Het
Fastkd5	C	T	2: 130,458,557 (GRCm39)	G11D	probably damaging	Het
Foxj3	A	T	4: 119,477,252 (GRCm39)	N354I	possibly damaging	Het
Gimap8	G	T	6: 48,627,999 (GRCm39)	C252F	probably benign	Het
Glra1	T	C	11: 55,411,821 (GRCm39)	Y329C	probably damaging	Het
Gm10330	G	A	12: 23,829,980 (GRCm39)	P67L	probably benign	Het
Gpm6a	T	C	8: 55,508,469 (GRCm39)	I226T	possibly damaging	Het
Gstt2	A	G	10: 75,668,418 (GRCm39)	F121S	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Hmcn2	T	C	2: 31,310,311 (GRCm39)	F3302L	probably benign	Het
Hormad2	T	C	11: 4,358,841 (GRCm39)	T189A	probably damaging	Het
Hps5	A	T	7: 46,418,826 (GRCm39)	S815T	probably benign	Het
Hydin	G	T	8: 111,282,239 (GRCm39)	R3113L	possibly damaging	Het
Inava	A	G	1: 136,155,279 (GRCm39)	S109P	probably benign	Het
Inpp5f	T	A	7: 128,294,037 (GRCm39)	C698S	probably benign	Het
Irs1	T	G	1: 82,267,605 (GRCm39)	M204L	probably benign	Het
Itfg1	T	C	8: 86,490,909 (GRCm39)	D340G	probably damaging	Het
Itm2c	T	A	1: 85,833,032 (GRCm39)	I122N	probably damaging	Het
Lamp3	T	A	16: 19,474,247 (GRCm39)	T376S	probably damaging	Het
Lrba	T	A	3: 86,622,872 (GRCm39)	I2418N	probably damaging	Het
Lrcol1	T	A	5: 110,502,715 (GRCm39)	V161D	probably damaging	Het
Lrp2	T	A	2: 69,259,016 (GRCm39)	Q4558L	probably benign	Het
Lrrfip2	A	T	9: 111,034,836 (GRCm39)	Q175L	probably damaging	Het
Mib1	T	G	18: 10,778,187 (GRCm39)	S572R	probably damaging	Het
Mis18bp1	A	T	12: 65,199,532 (GRCm39)	D456E	possibly damaging	Het
Mlh1	T	A	9: 111,090,581 (GRCm39)	T116S	possibly damaging	Het
Mpp4	T	C	1: 59,160,521 (GRCm39)	N594S	probably damaging	Het
Nbas	A	G	12: 13,455,458 (GRCm39)	E1224G	possibly damaging	Het
Neb	T	C	2: 52,110,997 (GRCm39)	D163G	possibly damaging	Het
Nectin4	T	C	1: 171,207,941 (GRCm39)	V111A	possibly damaging	Het
Nfatc2ip	G	A	7: 125,989,617 (GRCm39)	R256*	probably null	Het
Nlgn2	G	A	11: 69,716,760 (GRCm39)	R594C	probably damaging	Het
Nufip1	A	G	14: 76,352,442 (GRCm39)	S198G	possibly damaging	Het
Or2n1	T	C	17: 38,486,158 (GRCm39)	F61S	probably damaging	Het
Or5ac23	C	T	16: 59,149,606 (GRCm39)	D89N	possibly damaging	Het
Or8b49	T	C	9: 38,506,446 (GRCm39)	F310L	probably benign	Het
Or8s8	C	T	15: 98,354,574 (GRCm39)	H128Y	probably benign	Het
Pcdhga8	G	A	18: 37,859,896 (GRCm39)	M317I	probably benign	Het
Phactr1	A	T	13: 42,863,239 (GRCm39)	I55L	probably benign	Het
Prl3c1	G	A	13: 27,383,367 (GRCm39)	R31Q	probably benign	Het
Prss55	A	T	14: 64,319,180 (GRCm39)	F59Y	possibly damaging	Het
Ptprb	T	C	10: 116,158,392 (GRCm39)	W488R	probably damaging	Het
Qrich2	GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC	GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC	11: 116,346,608 (GRCm39)		probably benign	Het
Ros1	G	T	10: 52,044,791 (GRCm39)	T172K	probably damaging	Het
Rtel1	C	T	2: 180,997,869 (GRCm39)	R1206W	possibly damaging	Het
Slf2	A	T	19: 44,930,682 (GRCm39)	K586N	probably damaging	Het
Smc2	T	A	4: 52,450,854 (GRCm39)	M224K	probably benign	Het
Spata31d1e	A	T	13: 59,890,329 (GRCm39)	I497K	probably damaging	Het
Spinkl	T	C	18: 44,299,716 (GRCm39)	Y83C	probably damaging	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,689,458 (GRCm39)		probably benign	Het
St13	T	C	15: 81,283,719 (GRCm39)	E26G	possibly damaging	Het
Teddm3	T	A	16: 20,971,699 (GRCm39)	Q290L	probably benign	Het
Tfec	C	A	6: 16,840,467 (GRCm39)		probably null	Het
Trank1	C	A	9: 111,220,596 (GRCm39)	D2444E	probably benign	Het
Ttc17	T	A	2: 94,209,166 (GRCm39)	N96I	probably damaging	Het
Ttn	T	C	2: 76,560,130 (GRCm39)	T29424A	possibly damaging	Het
Tut7	C	A	13: 59,946,819 (GRCm39)	Q1003H	probably damaging	Het
Vmn1r68	G	A	7: 10,261,237 (GRCm39)	T287I	probably benign	Het
Vmn2r52	C	A	7: 9,896,877 (GRCm39)	V532L	probably benign	Het
Vmn2r92	A	T	17: 18,404,970 (GRCm39)	T705S	possibly damaging	Het
Vps13d	T	C	4: 144,899,697 (GRCm39)	D200G		Het
Wdr48	G	A	9: 119,733,405 (GRCm39)	C84Y	probably damaging	Het
Zscan25	T	A	5: 145,227,321 (GRCm39)	H328Q	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
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'- GTCATTTTGGCCTCTGAACTTT -3'
(R):5'- ACCTAACTCTCAATAAGGCCTTAAT -3'

Sequencing Primer
(F):5'- ACTTGAACTCTGGACCTTCGGAAG -3'
(R):5'- CCTGGTCTACATAGGGAGTTCCAG -3'

Posted On

2019-12-20