Mutagenetix > Incidental Mutation

Incidental Mutation 'R8812:Bcas3'

672511

Institutional Source

Beutler Lab

Gene Symbol

Bcas3

Ensembl Gene

ENSMUSG00000059439

Gene Name

breast carcinoma amplified sequence 3

Synonyms

2610028P08Rik, 1500019F07Rik, rudhira, K20D4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.762) question?

Stock #

R8812 (G1)

Quality Score

216.009

Status

Not validated

Chromosome

Chromosomal Location

85353167-85826058 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85559147 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 669 (Y669H)

Ref Sequence

ENSEMBL: ENSMUSP00000090496 (fasta)

Gene Model

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

AlphaFold

Q8CCN5

Predicted Effect

probably benign
Transcript: ENSMUST00000074875
AA Change: Y684H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000074416
Gene: ENSMUSG00000059439
AA Change: Y684H

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
AA Change: Y669H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000090496
Gene: ENSMUSG00000059439
AA Change: Y669H

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
AA Change: Y192H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000090497
Gene: ENSMUSG00000059439
AA Change: Y192H

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 benign
Transcript: ENSMUST00000108061
AA Change: Y684H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103696
Gene: ENSMUSG00000059439
AA Change: Y684H

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 benign
Transcript: ENSMUST00000108062
AA Change: Y684H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103697
Gene: ENSMUSG00000059439
AA Change: Y684H

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: Y210H

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: Y448H

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: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,332,352	P1167Q	probably damaging	Het
Adcy10	A	T	1: 165,551,298	Q885H	probably damaging	Het
Alkal2	C	T	12: 30,890,056	L139F	probably damaging	Het
Ankrd17	A	T	5: 90,293,203	M439K	probably benign	Het
Arl11	C	A	14: 61,310,973	Y77*	probably null	Het
Bpifb3	C	T	2: 153,922,596	A136V	probably benign	Het
Btbd11	A	G	10: 85,627,249	Q626R	probably damaging	Het
C87414	T	C	5: 93,637,801	T207A	possibly damaging	Het
Ccne2	A	G	4: 11,202,279	T345A	probably benign	Het
Ciz1	T	C	2: 32,364,274	S76P	probably benign	Het
Clip4	A	T	17: 71,800,805	K94*	probably null	Het
Cthrc1	G	A	15: 39,084,471	R195H	probably damaging	Het
D430042O09Rik	A	C	7: 125,797,695	R309S	probably benign	Het
Ddx31	T	C	2: 28,840,804		probably benign	Het
Elf2	T	A	3: 51,266,767	D113V	possibly damaging	Het
Esrrb	A	G	12: 86,488,550	N155S	probably benign	Het
Fam198b	T	C	3: 79,908,771	S363P	possibly damaging	Het
Flnb	A	G	14: 7,887,624	D478G	probably benign	Het
Galm	T	A	17: 80,127,786	L24H	probably damaging	Het
Gm14124	T	A	2: 150,267,704	C105S	possibly damaging	Het
Gon4l	G	A	3: 88,895,007	G975D	possibly damaging	Het
Hspbp1	T	G	7: 4,664,784	M237L	probably benign	Het
Ighv1-62-1	A	T	12: 115,386,747	M100K	probably damaging	Het
Ipo8	A	T	6: 148,775,077	D971E	possibly damaging	Het
Itgax	C	T	7: 128,133,807	A286V	probably damaging	Het
Jpt2	T	C	17: 24,960,604	Q3R	probably benign	Het
Klrg2	A	C	6: 38,636,903	L55R	probably damaging	Het
Lrp6	T	A	6: 134,456,178	M1397L	probably benign	Het
Lrrc31	T	A	3: 30,679,179	Q462L	probably benign	Het
Lyg2	T	A	1: 37,909,973	I103F	probably damaging	Het
Map10	T	C	8: 125,669,925	V19A	probably damaging	Het
Map1b	T	A	13: 99,432,815	M1133L	unknown	Het
Mrgpra4	A	G	7: 47,981,733	V40A	probably benign	Het
Myh1	G	A	11: 67,209,141	G626R	probably benign	Het
Myo9a	T	C	9: 59,779,747	V45A	probably benign	Het
Ncdn	A	G	4: 126,745,112	F638S	possibly damaging	Het
Ncs1	T	A	2: 31,284,201	M121K	probably damaging	Het
Nf1	T	C	11: 79,546,354	V16A	probably damaging	Het
Nktr	T	A	9: 121,750,251	D1128E	unknown	Het
Nup205	T	G	6: 35,214,334	L1000R	probably damaging	Het
Obscn	T	C	11: 59,035,095	E5604G	probably damaging	Het
Olfr1240	A	G	2: 89,439,865	V138A	probably benign	Het
Olfr1260	G	T	2: 89,978,371	A198S	possibly damaging	Het
Olfr1370	T	C	13: 21,073,050	N84D	probably damaging	Het
Olfr1446	A	T	19: 12,890,196	V127E	probably damaging	Het
Olfr409-ps1	T	A	11: 74,317,708	S228T	unknown	Het
Olfr615	G	T	7: 103,560,609	C44F	probably benign	Het
Olfr834	A	G	9: 18,988,516	H176R	possibly damaging	Het
Ovch2	T	A	7: 107,793,255	I294F	probably damaging	Het
Ovch2	A	T	7: 107,794,044	C207*	probably null	Het
P3h2	T	A	16: 25,982,717	Y397F	possibly damaging	Het
Pappa	A	T	4: 65,204,929	I834F	possibly damaging	Het
Pcdha11	T	C	18: 37,007,663	S782P	probably benign	Het
Pex1	T	C	5: 3,631,614	V980A	probably benign	Het
Pik3c2a	G	T	7: 116,351,877	L1258I	probably damaging	Het
Pmp22	T	A	11: 63,158,413	*161R	probably null	Het
Ppp1r26	T	A	2: 28,451,180	M274K	probably benign	Het
Ppp6r2	T	C	15: 89,283,072	V830A	probably benign	Het
Prss1	T	A	6: 41,462,586	N84K	probably benign	Het
Rab3il1	G	A	19: 10,026,777	A18T	probably damaging	Het
Sbf2	A	T	7: 110,329,862	S1471T	probably damaging	Het
Setdb1	T	A	3: 95,356,060	D45V	probably damaging	Het
Sik3	G	T	9: 46,178,513	V275L	probably benign	Het
Skint6	C	A	4: 112,988,952	M659I	probably benign	Het
Slc24a1	T	A	9: 64,928,703	D714V	unknown	Het
Slc26a5	T	A	5: 21,813,882	D653V	probably damaging	Het
Snrnp27	A	T	6: 86,676,214	C141S	probably benign	Het
Stradb	A	G	1: 58,994,319	I380M	probably benign	Het
Sult1e1	T	C	5: 87,587,642	Y59C	probably benign	Het
Tas2r122	C	T	6: 132,711,739	A64T	probably benign	Het
Tep1	C	T	14: 50,837,132	C1812Y	probably damaging	Het
Tln2	C	A	9: 67,221,411	E1465D	possibly damaging	Het
Trio	A	T	15: 27,905,225	C152S	unknown	Het
Tro	G	A	X: 150,655,559	S34L	unknown	Het
Vmn1r15	A	G	6: 57,258,138		probably benign	Het
Vmn1r19	A	G	6: 57,404,451		probably benign	Het
Vmn1r75	A	G	7: 11,880,703	T121A	possibly damaging	Het
Vmn2r32	A	G	7: 7,474,670	F241L	probably damaging	Het
Vmn2r66	A	G	7: 85,005,685	L472P	probably damaging	Het
Ylpm1	G	T	12: 84,996,792	W101C	unknown	Het
Zdbf2	C	A	1: 63,308,113	H1884N	probably benign	Het

Other mutations in Bcas3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Bcas3	APN	11	85365591	missense	probably damaging	0.98
IGL00754:Bcas3	APN	11	85495823	splice site	probably benign
IGL01712:Bcas3	APN	11	85581048	missense	probably damaging	0.99
IGL02073:Bcas3	APN	11	85557437	missense	probably damaging	1.00
IGL02261:Bcas3	APN	11	85531930	missense	probably damaging	1.00
IGL02323:Bcas3	APN	11	85495845	missense	probably damaging	0.97
IGL02493:Bcas3	APN	11	85495882	missense	probably damaging	0.99
IGL02609:Bcas3	APN	11	85457894	missense	probably damaging	1.00
IGL02808:Bcas3	APN	11	85495851	missense	probably benign	0.02
IGL03085:Bcas3	APN	11	85476783	missense	probably damaging	1.00
IGL03263:Bcas3	APN	11	85822122	intron	probably benign
FR4340:Bcas3	UTSW	11	85509497	missense	probably benign	0.12
FR4342:Bcas3	UTSW	11	85509497	missense	probably benign	0.12
FR4589:Bcas3	UTSW	11	85509497	missense	probably benign	0.12
IGL02991:Bcas3	UTSW	11	85457887	nonsense	probably null
PIT4377001:Bcas3	UTSW	11	85495842	missense	probably damaging	0.98
PIT4472001:Bcas3	UTSW	11	85531900	missense	probably damaging	0.99
R0145:Bcas3	UTSW	11	85359610	splice site	probably benign
R0257:Bcas3	UTSW	11	85822039	missense	probably benign	0.00
R0276:Bcas3	UTSW	11	85470837	critical splice donor site	probably null
R0485:Bcas3	UTSW	11	85495850	missense	probably damaging	0.99
R1053:Bcas3	UTSW	11	85557410	missense	probably benign	0.10
R1833:Bcas3	UTSW	11	85583949	missense	probably benign	0.00
R2107:Bcas3	UTSW	11	85457878	missense	probably damaging	0.97
R2108:Bcas3	UTSW	11	85457878	missense	probably damaging	0.97
R2215:Bcas3	UTSW	11	85801943	missense	probably damaging	0.99
R2404:Bcas3	UTSW	11	85354889	splice site	probably benign
R2413:Bcas3	UTSW	11	85531855	missense	probably damaging	1.00
R3694:Bcas3	UTSW	11	85801802	missense	probably benign	0.00
R3880:Bcas3	UTSW	11	85371122	missense	probably benign	0.02
R4241:Bcas3	UTSW	11	85470826	missense	probably damaging	0.99
R4794:Bcas3	UTSW	11	85509468	missense	probably damaging	1.00
R5035:Bcas3	UTSW	11	85543945	missense	probably damaging	1.00
R5073:Bcas3	UTSW	11	85371132	missense	probably damaging	1.00
R5245:Bcas3	UTSW	11	85559086	missense	probably damaging	1.00
R5358:Bcas3	UTSW	11	85451755	missense	probably benign	0.02
R5395:Bcas3	UTSW	11	85825249	missense	probably damaging	0.99
R5615:Bcas3	UTSW	11	85470761	missense	probably damaging	1.00
R5753:Bcas3	UTSW	11	85822084	intron	probably benign
R6198:Bcas3	UTSW	11	85509435	missense	probably damaging	0.99
R6668:Bcas3	UTSW	11	85801851	missense	probably damaging	0.98
R7170:Bcas3	UTSW	11	85495918	missense	probably damaging	0.96
R7171:Bcas3	UTSW	11	85583937	missense	probably damaging	1.00
R7672:Bcas3	UTSW	11	85395387	nonsense	probably null
R7689:Bcas3	UTSW	11	85495887	missense	probably benign	0.10
R7912:Bcas3	UTSW	11	85371128	missense	probably damaging	1.00
R8260:Bcas3	UTSW	11	85509546	missense	possibly damaging	0.50
R8292:Bcas3	UTSW	11	85457903	missense	probably damaging	0.99
R8334:Bcas3	UTSW	11	85576811	missense	possibly damaging	0.60
R8716:Bcas3	UTSW	11	85581042	missense	probably damaging	1.00
R9300:Bcas3	UTSW	11	85557358	missense	probably damaging	1.00
R9709:Bcas3	UTSW	11	85583923	missense	probably damaging	1.00
V3553:Bcas3	UTSW	11	85822100	intron	probably benign
X0020:Bcas3	UTSW	11	85531808	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ACACGTTGATTTGTGCAAGTC -3'
(R):5'- TGAAGACATACAGGCTATGGC -3'

Sequencing Primer
(F):5'- GCAAGTCTCTGTCAGGCTCTG -3'
(R):5'- CCTTTAATCTCAGCACTGGTGAAGG -3'

Posted On

2021-04-30