Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02999:Brinp3'

407257

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Brinp3

Ensembl Gene

ENSMUSG00000035131

Gene Name

bone morphogenetic protein/retinoic acid inducible neural specific 3

Synonyms

Fam5c, B830045N13Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.310) question?

Stock #

IGL02999

Quality Score

Status

Chromosome

Chromosomal Location

146494760-146902472 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to T at 146701849 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074622] [ENSMUST00000128345] [ENSMUST00000132847] [ENSMUST00000166814]

AlphaFold

Q499E0

Predicted Effect

probably null
Transcript: ENSMUST00000074622

SMART Domains

Protein: ENSMUSP00000074201
Gene: ENSMUSG00000035131

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
MACPF	78	264	7.69e-42	SMART
low complexity region	315	326	N/A	INTRINSIC
coiled coil region	349	372	N/A	INTRINSIC
EGF	440	475	1.73e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128345

SMART Domains

Protein: ENSMUSP00000116763
Gene: ENSMUSG00000035131

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000132847

SMART Domains

Protein: ENSMUSP00000118552
Gene: ENSMUSG00000035131

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Blast:MACPF	78	110	1e-16	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000166814

SMART Domains

Protein: ENSMUSP00000126074
Gene: ENSMUSG00000035131

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
MACPF	78	264	7.69e-42	SMART
low complexity region	315	326	N/A	INTRINSIC
coiled coil region	349	372	N/A	INTRINSIC
EGF	440	475	1.73e1	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is overexpressed in pituitary tumors but is underexpressed in tongue squamous cell carcinomas, ulcerative colitis, and peri-implantitis. Polymorphisms that increase expression of this gene have been shown to increase vascular inflammation, and an association of this gene with myocardial infarction has been demonstrated. Finally, hypermethylation of this gene may find usefulness as a biomarker for gastric cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 79,067,590	R297S	possibly damaging	Het
Abca13	G	A	11: 9,581,757		probably benign	Het
Acot12	T	A	13: 91,759,981	V94D	probably damaging	Het
Adgrv1	C	T	13: 81,578,854	A460T	probably benign	Het
Atp8a2	C	A	14: 59,925,122	E717*	probably null	Het
Camk1d	C	A	2: 5,354,705	V177L	probably benign	Het
Chst11	A	G	10: 83,191,704	I322V	possibly damaging	Het
Cobl	T	C	11: 12,343,869	T296A	possibly damaging	Het
Dcc	A	C	18: 71,378,678	F869V	possibly damaging	Het
Dock2	G	T	11: 34,692,259	T609K	probably damaging	Het
Ercc5	A	G	1: 44,167,654	T576A	probably benign	Het
Faf1	A	G	4: 109,861,893	I399V	probably benign	Het
Fndc3b	T	G	3: 27,538,239	E170A	probably damaging	Het
Ggt7	C	A	2: 155,502,713	V237L	probably benign	Het
Gm14085	T	C	2: 122,514,514		probably benign	Het
Hectd1	G	T	12: 51,827,422	Q24K	possibly damaging	Het
Krt19	T	C	11: 100,141,409		probably benign	Het
Lilrb4a	T	C	10: 51,494,143	L259P	probably damaging	Het
Limd1	T	C	9: 123,516,799	Y548H	probably damaging	Het
Lingo2	A	G	4: 35,708,744	I412T	probably damaging	Het
Lrrc34	T	A	3: 30,634,633	Q173L	probably damaging	Het
Lrrn3	A	T	12: 41,452,751	N522K	probably benign	Het
Mgat4e	A	C	1: 134,541,190	L372R	probably damaging	Het
Nedd4l	A	G	18: 65,198,707	D638G	probably damaging	Het
Olfm3	T	C	3: 115,122,748	M423T	probably damaging	Het
Olfr969	T	C	9: 39,795,456	L27P	probably damaging	Het
Pcsk7	T	A	9: 45,927,599	I603N	possibly damaging	Het
Ptpn2	A	G	18: 67,681,510	V143A	probably damaging	Het
Rabgap1	C	A	2: 37,483,826	D283E	possibly damaging	Het
Reln	G	A	5: 21,995,365	S1379F	probably damaging	Het
Rpap2	T	A	5: 107,601,831	F74I	possibly damaging	Het
Sel1l2	T	C	2: 140,230,804	E637G	probably damaging	Het
St18	T	A	1: 6,817,605	V466E	probably benign	Het
Stac	C	A	9: 111,604,130	G207C	probably damaging	Het
Stra6	T	A	9: 58,135,113	N8K	probably benign	Het
Sytl4	C	T	X: 133,937,978	R649Q	probably benign	Het
Tas1r3	A	G	4: 155,862,359	V263A	probably damaging	Het
Tprg	T	C	16: 25,317,468	Y70H	probably damaging	Het

Other mutations in Brinp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Brinp3	APN	1	146901774	missense	probably damaging	0.99
IGL00503:Brinp3	APN	1	146901167	missense	probably benign
IGL01702:Brinp3	APN	1	146751997	splice site	probably benign
IGL01728:Brinp3	APN	1	146831551	splice site	probably null
IGL01733:Brinp3	APN	1	146514803	missense	probably benign	0.33
IGL01937:Brinp3	APN	1	146901140	missense	probably benign
IGL02020:Brinp3	APN	1	146902127	utr 3 prime	probably benign
IGL02082:Brinp3	APN	1	146751862	missense	probably damaging	1.00
IGL02365:Brinp3	APN	1	146901122	missense	probably benign	0.00
IGL02366:Brinp3	APN	1	146701743	missense	possibly damaging	0.84
IGL02565:Brinp3	APN	1	146902032	missense	probably damaging	0.98
IGL03099:Brinp3	APN	1	146902097	missense	possibly damaging	0.91
PIT4283001:Brinp3	UTSW	1	146901423	missense	probably damaging	0.99
PIT4418001:Brinp3	UTSW	1	146901423	missense	probably damaging	0.99
R0021:Brinp3	UTSW	1	146901451	missense	probably benign	0.04
R0021:Brinp3	UTSW	1	146901451	missense	probably benign	0.04
R0266:Brinp3	UTSW	1	146682680	nonsense	probably null
R1468:Brinp3	UTSW	1	146901962	missense	probably benign	0.01
R1468:Brinp3	UTSW	1	146901962	missense	probably benign	0.01
R1522:Brinp3	UTSW	1	146901890	missense	probably damaging	0.99
R1596:Brinp3	UTSW	1	146514782	missense	probably benign
R1898:Brinp3	UTSW	1	146901249	missense	possibly damaging	0.93
R2036:Brinp3	UTSW	1	146701841	missense	possibly damaging	0.84
R2224:Brinp3	UTSW	1	146901920	nonsense	probably null
R2272:Brinp3	UTSW	1	146901404	missense	possibly damaging	0.93
R2291:Brinp3	UTSW	1	146901074	missense	possibly damaging	0.85
R2322:Brinp3	UTSW	1	146701754	missense	probably benign
R2880:Brinp3	UTSW	1	146902002	missense	probably damaging	0.98
R3918:Brinp3	UTSW	1	146751861	missense	probably damaging	0.99
R3939:Brinp3	UTSW	1	146751861	missense	probably damaging	0.99
R3940:Brinp3	UTSW	1	146751861	missense	probably damaging	0.99
R3941:Brinp3	UTSW	1	146751861	missense	probably damaging	0.99
R3942:Brinp3	UTSW	1	146751861	missense	probably damaging	0.99
R4095:Brinp3	UTSW	1	146901692	missense	possibly damaging	0.72
R4783:Brinp3	UTSW	1	146727640	intron	probably benign
R5009:Brinp3	UTSW	1	146901049	missense	probably benign	0.25
R5034:Brinp3	UTSW	1	146727720	intron	probably benign
R5166:Brinp3	UTSW	1	146901367	missense	probably damaging	0.96
R5372:Brinp3	UTSW	1	146831726	missense	probably damaging	1.00
R5472:Brinp3	UTSW	1	146901459	missense	possibly damaging	0.86
R5651:Brinp3	UTSW	1	146701799	missense	probably benign	0.01
R5681:Brinp3	UTSW	1	146901746	missense	probably benign	0.12
R6351:Brinp3	UTSW	1	146901585	missense	probably damaging	0.96
R6470:Brinp3	UTSW	1	146901906	missense	probably damaging	0.99
R6499:Brinp3	UTSW	1	146901693	missense	possibly damaging	0.86
R7078:Brinp3	UTSW	1	146514889	nonsense	probably null
R7223:Brinp3	UTSW	1	146901074	missense	possibly damaging	0.85
R7322:Brinp3	UTSW	1	146682688	nonsense	probably null
R7347:Brinp3	UTSW	1	146902086	missense	probably benign	0.22
R7375:Brinp3	UTSW	1	146902010	missense	possibly damaging	0.91
R7412:Brinp3	UTSW	1	146902010	missense	possibly damaging	0.91
R7532:Brinp3	UTSW	1	146901401	missense	probably damaging	0.98
R7562:Brinp3	UTSW	1	146902010	missense	possibly damaging	0.91
R7576:Brinp3	UTSW	1	146901563	missense	probably damaging	0.99
R7723:Brinp3	UTSW	1	146701671	missense	probably damaging	1.00
R7737:Brinp3	UTSW	1	146682594	missense	probably damaging	0.98
R7793:Brinp3	UTSW	1	146746568	missense	probably benign	0.20
R8334:Brinp3	UTSW	1	146902053	missense	probably damaging	0.99
R8401:Brinp3	UTSW	1	146901446	missense	probably benign	0.17
R9205:Brinp3	UTSW	1	146902089	missense	possibly damaging	0.57
R9328:Brinp3	UTSW	1	146831717	missense	probably damaging	0.98
X0060:Brinp3	UTSW	1	146901786	missense	probably benign	0.01
Z1176:Brinp3	UTSW	1	146902076	missense	probably damaging	0.99

Posted On

2016-08-02