Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02557:Bcas2'

298360

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bcas2

Ensembl Gene

ENSMUSG00000005687

Gene Name

BCAS2 pre-mRNA processing factor

Synonyms

breast carcinoma amplified sequence 2, 6430539P16Rik, C76366

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

IGL02557

Quality Score

Status

Chromosome

Chromosomal Location

103078971-103086479 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 103079183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134008 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005830] [ENSMUST00000135017] [ENSMUST00000155520] [ENSMUST00000172288] [ENSMUST00000173206]

AlphaFold

Q9D287

Predicted Effect

probably benign
Transcript: ENSMUST00000005830

SMART Domains

Protein: ENSMUSP00000005830
Gene: ENSMUSG00000005687

Domain	Start	End	E-Value	Type
Pfam:BCAS2	11	216	6.2e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135017

SMART Domains

Protein: ENSMUSP00000122413
Gene: ENSMUSG00000005687

Domain	Start	End	E-Value	Type
Pfam:BCAS2	6	77	2.8e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136937

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139489

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147042

Predicted Effect

unknown
Transcript: ENSMUST00000155520
AA Change: V32A

SMART Domains

Protein: ENSMUSP00000116250
Gene: ENSMUSG00000005687
AA Change: V32A

Domain	Start	End	E-Value	Type
Pfam:BCAS2	6	46	9e-10	PFAM
low complexity region	52	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172288

SMART Domains

Protein: ENSMUSP00000127187
Gene: ENSMUSG00000007379

Domain	Start	End	E-Value	Type
uDENN	481	571	1.01e-25	SMART
DENN	578	762	3.36e-77	SMART
dDENN	806	873	1.15e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174060

Predicted Effect

probably benign
Transcript: ENSMUST00000173206

SMART Domains

Protein: ENSMUSP00000134008
Gene: ENSMUSG00000007379

Domain	Start	End	E-Value	Type
uDENN	424	514	1.01e-25	SMART
DENN	521	705	3.36e-77	SMART
dDENN	749	816	1.15e-20	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete lethality. Pups of dams homozygous for a conditional allele activated in oocytes exhibit lethality of pups associated with defects in DNA damage repair and DNA replication. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,670,444 (GRCm39)	P222L	probably benign	Het
Alg12	T	A	15: 88,700,410 (GRCm39)	K9*	probably null	Het
Arhgap20	T	C	9: 51,732,573 (GRCm39)	V119A	probably damaging	Het
Arhgap45	T	C	10: 79,857,472 (GRCm39)	Y178H	probably damaging	Het
Atad2	A	T	15: 57,985,993 (GRCm39)	S243T	probably benign	Het
Atp13a5	A	C	16: 29,066,934 (GRCm39)	F1013V	probably benign	Het
Atp1a2	T	G	1: 172,106,218 (GRCm39)	T865P	possibly damaging	Het
Ccnk	T	C	12: 108,161,985 (GRCm39)	S297P	unknown	Het
Cdk5	A	T	5: 24,624,651 (GRCm39)	S215T	probably benign	Het
Ciita	T	A	16: 10,329,879 (GRCm39)	L798Q	probably damaging	Het
Clcn2	A	G	16: 20,527,214 (GRCm39)	S584P	probably damaging	Het
Cntn6	A	G	6: 104,751,496 (GRCm39)	Y384C	probably damaging	Het
Cyp2b10	T	A	7: 25,614,306 (GRCm39)	V260D	probably benign	Het
Dsel	A	T	1: 111,790,300 (GRCm39)	H78Q	probably damaging	Het
Eml3	T	C	19: 8,908,745 (GRCm39)		probably benign	Het
Fcgr2b	C	A	1: 170,790,891 (GRCm39)		probably null	Het
Fryl	A	T	5: 73,255,736 (GRCm39)	L765Q	probably damaging	Het
Gas2	T	A	7: 51,537,681 (GRCm39)	M2K	probably damaging	Het
Gm13941	T	C	2: 110,931,501 (GRCm39)	K44E	unknown	Het
Gm42878	A	G	5: 121,665,194 (GRCm39)	S205P	possibly damaging	Het
Hcn3	A	T	3: 89,057,178 (GRCm39)	S473R	probably damaging	Het
Hnrnpr	A	G	4: 136,046,817 (GRCm39)	E65G	probably damaging	Het
Ints1	A	T	5: 139,757,392 (GRCm39)	V375E	probably damaging	Het
Lama5	A	T	2: 179,832,725 (GRCm39)	C1642*	probably null	Het
Lsr	T	G	7: 30,657,919 (GRCm39)	E347A	possibly damaging	Het
Mapre2	C	A	18: 23,966,014 (GRCm39)	T33K	probably damaging	Het
Myo3b	T	A	2: 70,085,663 (GRCm39)	F772I	probably benign	Het
Myorg	C	T	4: 41,497,900 (GRCm39)	V577M	possibly damaging	Het
Nbas	T	C	12: 13,411,029 (GRCm39)	V891A	probably damaging	Het
Neurl4	A	T	11: 69,797,161 (GRCm39)	I583F	probably damaging	Het
Nsd1	T	C	13: 55,460,261 (GRCm39)	S2163P	probably damaging	Het
Nup210l	T	C	3: 90,031,537 (GRCm39)	Y288H	probably damaging	Het
Or10ak8	T	C	4: 118,774,389 (GRCm39)	T92A	probably benign	Het
Or4c107	A	G	2: 88,789,025 (GRCm39)	I72V	probably benign	Het
Pak1	A	G	7: 97,520,794 (GRCm39)	E151G	probably benign	Het
Phtf1	A	G	3: 103,906,081 (GRCm39)	N588D	probably damaging	Het
Prom2	T	C	2: 127,371,391 (GRCm39)	T756A	possibly damaging	Het
Ptgfrn	C	T	3: 100,967,952 (GRCm39)		probably null	Het
Seh1l	T	C	18: 67,922,483 (GRCm39)	S279P	probably benign	Het
Sema3f	A	T	9: 107,564,411 (GRCm39)	M35K	probably damaging	Het
Spesp1	T	C	9: 62,180,416 (GRCm39)	E164G	possibly damaging	Het
Sprr3	T	C	3: 92,364,473 (GRCm39)	T124A	possibly damaging	Het
Trim24	A	C	6: 37,942,434 (GRCm39)		probably null	Het
Unc79	A	G	12: 103,148,418 (GRCm39)		probably benign	Het
Vmn2r77	T	A	7: 86,444,342 (GRCm39)		probably benign	Het

Other mutations in Bcas2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01547:Bcas2	APN	3	103,079,315 (GRCm39)	missense	probably damaging	1.00
R1911:Bcas2	UTSW	3	103,079,113 (GRCm39)	nonsense	probably null
R2284:Bcas2	UTSW	3	103,085,678 (GRCm39)	missense	probably damaging	1.00
R4574:Bcas2	UTSW	3	103,081,666 (GRCm39)	missense	probably benign	0.01
R4676:Bcas2	UTSW	3	103,083,017 (GRCm39)	intron	probably benign
R5335:Bcas2	UTSW	3	103,082,951 (GRCm39)	missense	probably damaging	0.99
R5624:Bcas2	UTSW	3	103,080,577 (GRCm39)	missense	probably benign
R5633:Bcas2	UTSW	3	103,085,740 (GRCm39)	nonsense	probably null
R5723:Bcas2	UTSW	3	103,084,608 (GRCm39)	intron	probably benign
R6051:Bcas2	UTSW	3	103,081,657 (GRCm39)	missense	possibly damaging	0.83
R6301:Bcas2	UTSW	3	103,079,187 (GRCm39)	unclassified	probably benign
R6444:Bcas2	UTSW	3	103,079,362 (GRCm39)	splice site	probably null

Posted On

2015-04-16