Mutagenetix > Incidental Mutation

Incidental Mutation 'R4241:Blcap'

320202

Institutional Source

Beutler Lab

Gene Symbol

Blcap

Ensembl Gene

ENSMUSG00000067787

Gene Name

bladder cancer associated protein

Synonyms

Bc10

MMRRC Submission

041058-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

R4241 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

157398282-157408281 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 157402343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088484] [ENSMUST00000088494] [ENSMUST00000109526] [ENSMUST00000109528] [ENSMUST00000173839] [ENSMUST00000153739] [ENSMUST00000173041] [ENSMUST00000173595] [ENSMUST00000172487] [ENSMUST00000173793] [ENSMUST00000173378]

AlphaFold

P62951

Predicted Effect

probably benign
Transcript: ENSMUST00000088484

SMART Domains

Protein: ENSMUSP00000085836
Gene: ENSMUSG00000067786

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC
low complexity region	71	80	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000088494

SMART Domains

Protein: ENSMUSP00000085849
Gene: ENSMUSG00000067787

Domain	Start	End	E-Value	Type
Pfam:BC10	1	65	2.7e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104797

Predicted Effect

probably benign
Transcript: ENSMUST00000109526

SMART Domains

Protein: ENSMUSP00000105152
Gene: ENSMUSG00000067786

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
transmembrane domain	13	35	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109528

SMART Domains

Protein: ENSMUSP00000105154
Gene: ENSMUSG00000067787

Domain	Start	End	E-Value	Type
Pfam:BC10	1	65	2.7e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152605

Predicted Effect

probably benign
Transcript: ENSMUST00000173839

SMART Domains

Protein: ENSMUSP00000133394
Gene: ENSMUSG00000067786

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
transmembrane domain	13	35	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153739

SMART Domains

Protein: ENSMUSP00000129821
Gene: ENSMUSG00000067786

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173041

SMART Domains

Protein: ENSMUSP00000134109
Gene: ENSMUSG00000067786

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173595

SMART Domains

Protein: ENSMUSP00000133397
Gene: ENSMUSG00000067786

Domain	Start	End	E-Value	Type
low complexity region	2	9	N/A	INTRINSIC
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	67	76	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172487

SMART Domains

Protein: ENSMUSP00000134415
Gene: ENSMUSG00000067786

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC
low complexity region	56	73	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173793

SMART Domains

Protein: ENSMUSP00000133487
Gene: ENSMUSG00000067786

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173378

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (49/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that reduces cell growth by stimulating apoptosis. Alternative splicing and the use of alternative promoters result in multiple transcript variants encoding the same protein. This gene is imprinted in brain where different transcript variants are expressed from each parental allele. Transcript variants initiating from the upstream promoter are expressed preferentially from the maternal allele, while transcript variants initiating downstream of the interspersed NNAT gene (GeneID:4826) are expressed from the paternal allele. Transcripts at this locus may also undergo A to I editing, resulting in amino acid changes at three positions in the N-terminus of the protein. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	T	3: 116,548,497 (GRCm39)		probably benign	Het
Ap5b1	C	T	19: 5,618,825 (GRCm39)	L82F	possibly damaging	Het
Arfgef3	A	G	10: 18,500,912 (GRCm39)	S1113P	probably damaging	Het
Atoh1	A	C	6: 64,706,758 (GRCm39)	N151T	probably damaging	Het
Bcas3	T	A	11: 85,361,652 (GRCm39)	S25R	probably damaging	Het
Btbd6	C	T	12: 112,940,416 (GRCm39)	A13V	probably benign	Het
Ccdc83	A	C	7: 89,896,346 (GRCm39)	N74K	probably damaging	Het
Cdh9	A	G	15: 16,849,165 (GRCm39)		probably null	Het
Chd1	C	T	17: 15,990,289 (GRCm39)	R1614*	probably null	Het
Col16a1	G	T	4: 129,992,843 (GRCm39)	Q1567H	probably damaging	Het
Coq6	A	T	12: 84,420,563 (GRCm39)		probably benign	Het
Cpd	T	C	11: 76,737,611 (GRCm39)	D61G	probably benign	Het
Csnk1e	A	G	15: 79,309,095 (GRCm39)	F277S	probably damaging	Het
Cyp2d41-ps	T	A	15: 82,663,787 (GRCm39)		noncoding transcript	Het
Dbt	T	C	3: 116,326,945 (GRCm39)	I98T	probably damaging	Het
Eif3e	G	A	15: 43,126,086 (GRCm39)	T287I	probably damaging	Het
Fcgbpl1	A	G	7: 27,853,760 (GRCm39)	S1575G	probably damaging	Het
Gm7135	A	G	1: 97,281,678 (GRCm39)		noncoding transcript	Het
Gpr176	A	T	2: 118,110,091 (GRCm39)	S389R	probably benign	Het
Hax1	A	G	3: 89,902,997 (GRCm39)	S257P	probably damaging	Het
Herc1	CTGAGGACTCTTTG	CTG	9: 66,355,630 (GRCm39)		probably null	Het
Ighv1-53	C	T	12: 115,122,442 (GRCm39)	C5Y	probably benign	Het
Klhl13	T	A	X: 23,181,414 (GRCm39)	D2V	probably damaging	Het
Kynu	A	T	2: 43,571,422 (GRCm39)	H446L	probably benign	Het
Lingo1	A	G	9: 56,527,386 (GRCm39)	F401S	probably damaging	Het
Lmbrd1	C	T	1: 24,732,049 (GRCm39)	Q89*	probably null	Het
Mov10	T	A	3: 104,704,592 (GRCm39)	Q773L	probably benign	Het
Or52e19	G	T	7: 102,959,868 (GRCm39)	*313Y	probably null	Het
Or7c70	T	A	10: 78,683,739 (GRCm39)	R3S	probably benign	Het
Pde6c	G	A	19: 38,151,293 (GRCm39)	G608S	probably damaging	Het
Peli3	T	C	19: 4,982,426 (GRCm39)	H413R	probably damaging	Het
Pkdrej	C	T	15: 85,702,345 (GRCm39)	R1197Q	probably damaging	Het
Rcan2	T	A	17: 44,264,370 (GRCm39)	V10D	probably benign	Het
Slc10a5	A	G	3: 10,400,520 (GRCm39)	S47P	probably damaging	Het
Sprr3	A	G	3: 92,364,214 (GRCm39)	V210A	possibly damaging	Het
Tcerg1l	G	T	7: 137,999,361 (GRCm39)	Q8K	unknown	Het
Ubfd1	T	C	7: 121,670,977 (GRCm39)	V265A	possibly damaging	Het
Ubr1	T	C	2: 120,764,867 (GRCm39)	D529G	possibly damaging	Het
Vmn1r180	A	T	7: 23,652,298 (GRCm39)	I154F	probably damaging	Het
Vmn1r237	A	G	17: 21,534,925 (GRCm39)	H216R	possibly damaging	Het
Whrn	C	T	4: 63,351,210 (GRCm39)		probably benign	Het
Zfr	T	G	15: 12,149,745 (GRCm39)	D388E	probably damaging	Het
Zic5	T	C	14: 122,702,075 (GRCm39)	I219V	probably benign	Het
Zmat5	A	G	11: 4,678,614 (GRCm39)	N53D	probably benign	Het

Other mutations in Blcap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0270:Blcap	UTSW	2	157,399,897 (GRCm39)	nonsense	probably null
R4242:Blcap	UTSW	2	157,402,343 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TCATCATCGGCTGGTACATC -3'
(R):5'- CTGTTGTGCGAACTGTAAAGTTTC -3'

Sequencing Primer
(F):5'- ATCGGCTGGTACATCTTCCG -3'
(R):5'- GTGCGAACTGTAAAGTTTCACAGC -3'

Posted On

2015-06-12