Mutagenetix > Incidental Mutation

Incidental Mutation 'R5624:Bcas2'

441721

Institutional Source

Beutler Lab

Gene Symbol

Bcas2

Ensembl Gene

ENSMUSG00000005687

Gene Name

BCAS2 pre-mRNA processing factor

Synonyms

breast carcinoma amplified sequence 2, 6430539P16Rik, C76366

MMRRC Submission

043163-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R5624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103078971-103086479 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103080577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 72 (C72R)

Ref Sequence

ENSEMBL: ENSMUSP00000122413 (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
AA Change: C72R

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

SMART Domains

Protein: ENSMUSP00000122413
Gene: ENSMUSG00000005687
AA Change: C72R

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

probably benign
Transcript: ENSMUST00000155520

SMART Domains

Protein: ENSMUSP00000116250
Gene: ENSMUSG00000005687

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: ENSMUST00000174060

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173037

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (47/48)

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
Adad2	T	A	8: 120,341,844 (GRCm39)		probably null	Het
Aoah	A	T	13: 21,179,649 (GRCm39)	N372I	probably damaging	Het
Ash1l	T	A	3: 88,892,916 (GRCm39)	D1598E	probably damaging	Het
Car9	T	A	4: 43,509,146 (GRCm39)	F238Y	probably benign	Het
Ccnd1	T	C	7: 144,491,749 (GRCm39)	S97G	probably benign	Het
Cfap52	C	G	11: 67,818,184 (GRCm39)	C509S	possibly damaging	Het
Clcn4	C	A	7: 7,291,943 (GRCm39)	V623L	probably benign	Het
Dnajc11	T	C	4: 152,063,967 (GRCm39)	V483A	probably benign	Het
E2f8	G	T	7: 48,527,709 (GRCm39)	D144E	probably damaging	Het
Epb41l1	G	A	2: 156,375,691 (GRCm39)		probably benign	Het
Fam186a	A	C	15: 99,839,628 (GRCm39)	H2205Q	possibly damaging	Het
Fhit	A	G	14: 10,421,534 (GRCm38)	S85P	probably damaging	Het
Fzd8	G	A	18: 9,213,268 (GRCm39)	G117S	unknown	Het
Gsdmc4	A	G	15: 63,764,503 (GRCm39)	M379T	possibly damaging	Het
Hemk1	T	C	9: 107,208,727 (GRCm39)	R157G	probably benign	Het
Il10	A	G	1: 130,951,940 (GRCm39)	M158V	probably benign	Het
Jmjd1c	G	A	10: 67,069,193 (GRCm39)	M1656I	probably damaging	Het
Kit	A	T	5: 75,770,054 (GRCm39)	K155N	probably benign	Het
Lmtk3	C	A	7: 45,436,286 (GRCm39)	A114E	probably damaging	Het
Lztr1	A	G	16: 17,329,993 (GRCm39)		probably benign	Het
Mras	A	G	9: 99,293,538 (GRCm39)	F34S	probably damaging	Het
Myo1c	A	G	11: 75,553,461 (GRCm39)	T516A	probably damaging	Het
Nme8	A	C	13: 19,862,038 (GRCm39)	V197G	possibly damaging	Het
Or13p5	T	A	4: 118,592,568 (GRCm39)	Y281N	probably damaging	Het
Or8k39	T	C	2: 86,563,149 (GRCm39)	D269G	probably benign	Het
Pcdhb9	A	T	18: 37,534,459 (GRCm39)	Y151F	probably benign	Het
Pcnx2	C	T	8: 126,488,262 (GRCm39)		probably null	Het
Plekhg4	T	C	8: 106,107,382 (GRCm39)	F892S	probably damaging	Het
Prmt3	T	A	7: 49,430,082 (GRCm39)	F62I	probably damaging	Het
Ralgapa1	T	C	12: 55,659,523 (GRCm39)	Y1999C	probably damaging	Het
Rims2	A	T	15: 39,208,809 (GRCm39)	Q204L	possibly damaging	Het
Slc6a16	T	G	7: 44,910,532 (GRCm39)	H352Q	probably benign	Het
Snx9	T	A	17: 5,942,084 (GRCm39)	C70*	probably null	Het
Srprb	A	G	9: 103,074,800 (GRCm39)	I114T	probably damaging	Het
Tas2r119	A	T	15: 32,178,114 (GRCm39)	I227F	probably damaging	Het
Tasor2	A	G	13: 3,634,996 (GRCm39)	S604P	possibly damaging	Het
Tg	A	T	15: 66,709,906 (GRCm39)	Y163F	probably benign	Het
Tm2d2	A	G	8: 25,512,784 (GRCm39)	T211A	probably damaging	Het
Tmem132b	A	G	5: 125,699,710 (GRCm39)	S83G	probably benign	Het
Trav9-4	T	C	14: 53,913,886 (GRCm39)	S47P	probably benign	Het
Vmn2r8	T	A	5: 108,950,325 (GRCm39)	H174L	probably damaging	Het
Xrcc1	A	G	7: 24,259,270 (GRCm39)	D85G	possibly damaging	Het
Zfp106	C	G	2: 120,362,438 (GRCm39)	A34P	probably damaging	Het
Zfp608	A	T	18: 55,031,344 (GRCm39)	N865K	probably damaging	Het
Zscan5b	A	G	7: 6,233,518 (GRCm39)	D114G	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
IGL02557:Bcas2	APN	3	103,079,183 (GRCm39)	unclassified	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GCCTGGGCAGAATATGGAATTAAA -3'
(R):5'- ATTCTCACTTCCTACCCACAGCA -3'

Sequencing Primer
(F):5'- AATTAACCTCAACTGGGGGATGTGTC -3'
(R):5'- TTCCTACCCACAGCAGCAAAC -3'

Posted On

2016-11-08