Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02020:Brinp3'

183948

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

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

IGL02020

Quality Score

Status

Chromosome

Chromosomal Location

146371367-146778210 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 146777865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126074 (fasta)

Gene Model

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

AlphaFold

Q499E0

Predicted Effect

probably benign
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 benign
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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	A	T	8: 84,659,577 (GRCm39)	Q711L	probably benign	Het
Atg9b	A	C	5: 24,596,056 (GRCm39)	N205K	possibly damaging	Het
Cdh20	A	G	1: 110,066,078 (GRCm39)	Y784C	probably damaging	Het
Csmd2	T	A	4: 128,453,672 (GRCm39)	D142E	probably damaging	Het
Dscam	A	G	16: 96,517,269 (GRCm39)	L880P	probably damaging	Het
Gm14496	A	G	2: 181,637,882 (GRCm39)	T319A	possibly damaging	Het
Hr	A	G	14: 70,793,877 (GRCm39)	T46A	probably benign	Het
Ighv1-7	A	G	12: 114,502,345 (GRCm39)	C41R	probably damaging	Het
Itga3	C	T	11: 94,948,216 (GRCm39)	V539I	probably benign	Het
Kif13a	T	A	13: 46,947,495 (GRCm39)	I830F	probably benign	Het
Mphosph9	T	C	5: 124,397,013 (GRCm39)	N1110S	probably damaging	Het
Or5m11b	A	G	2: 85,805,579 (GRCm39)		probably benign	Het
Pdia3	G	A	2: 121,266,900 (GRCm39)		probably null	Het
Phpt1	T	C	2: 25,464,221 (GRCm39)	I87M	probably damaging	Het
Psd3	T	C	8: 68,426,822 (GRCm39)		probably benign	Het
Ranbp2	A	G	10: 58,315,769 (GRCm39)	E2163G	probably damaging	Het
Ranbp6	T	C	19: 29,787,176 (GRCm39)	I1059V	probably benign	Het
Runx2	C	T	17: 44,969,486 (GRCm39)	G253D	probably damaging	Het
S100a5	A	G	3: 90,517,121 (GRCm39)		probably benign	Het
Skint1	T	A	4: 111,882,724 (GRCm39)	M256K	probably benign	Het
Slc9a3	C	T	13: 74,306,967 (GRCm39)	A364V	probably damaging	Het
Srsf3-ps	C	A	11: 98,516,335 (GRCm39)	V13L	probably damaging	Het
Trip11	C	T	12: 101,850,572 (GRCm39)	R879Q	probably damaging	Het
Tubgcp3	T	C	8: 12,687,780 (GRCm39)	T588A	possibly damaging	Het
Vmn2r100	T	A	17: 19,725,200 (GRCm39)	V43E	possibly damaging	Het
Washc4	T	C	10: 83,400,336 (GRCm39)	S421P	probably damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wwp2	G	A	8: 108,283,127 (GRCm39)	R354Q	probably damaging	Het
Zfp804b	T	A	5: 6,819,118 (GRCm39)	Q1315L	probably damaging	Het

Other mutations in Brinp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Brinp3	APN	1	146,777,512 (GRCm39)	missense	probably damaging	0.99
IGL00503:Brinp3	APN	1	146,776,905 (GRCm39)	missense	probably benign
IGL01702:Brinp3	APN	1	146,627,735 (GRCm39)	splice site	probably benign
IGL01728:Brinp3	APN	1	146,707,289 (GRCm39)	splice site	probably null
IGL01733:Brinp3	APN	1	146,390,541 (GRCm39)	missense	probably benign	0.33
IGL01937:Brinp3	APN	1	146,776,878 (GRCm39)	missense	probably benign
IGL02082:Brinp3	APN	1	146,627,600 (GRCm39)	missense	probably damaging	1.00
IGL02365:Brinp3	APN	1	146,776,860 (GRCm39)	missense	probably benign	0.00
IGL02366:Brinp3	APN	1	146,577,481 (GRCm39)	missense	possibly damaging	0.84
IGL02565:Brinp3	APN	1	146,777,770 (GRCm39)	missense	probably damaging	0.98
IGL02999:Brinp3	APN	1	146,577,587 (GRCm39)	splice site	probably null
IGL03099:Brinp3	APN	1	146,777,835 (GRCm39)	missense	possibly damaging	0.91
PIT4283001:Brinp3	UTSW	1	146,777,161 (GRCm39)	missense	probably damaging	0.99
PIT4418001:Brinp3	UTSW	1	146,777,161 (GRCm39)	missense	probably damaging	0.99
R0021:Brinp3	UTSW	1	146,777,189 (GRCm39)	missense	probably benign	0.04
R0021:Brinp3	UTSW	1	146,777,189 (GRCm39)	missense	probably benign	0.04
R0266:Brinp3	UTSW	1	146,558,418 (GRCm39)	nonsense	probably null
R1468:Brinp3	UTSW	1	146,777,700 (GRCm39)	missense	probably benign	0.01
R1468:Brinp3	UTSW	1	146,777,700 (GRCm39)	missense	probably benign	0.01
R1522:Brinp3	UTSW	1	146,777,628 (GRCm39)	missense	probably damaging	0.99
R1596:Brinp3	UTSW	1	146,390,520 (GRCm39)	missense	probably benign
R1898:Brinp3	UTSW	1	146,776,987 (GRCm39)	missense	possibly damaging	0.93
R2036:Brinp3	UTSW	1	146,577,579 (GRCm39)	missense	possibly damaging	0.84
R2224:Brinp3	UTSW	1	146,777,658 (GRCm39)	nonsense	probably null
R2272:Brinp3	UTSW	1	146,777,142 (GRCm39)	missense	possibly damaging	0.93
R2291:Brinp3	UTSW	1	146,776,812 (GRCm39)	missense	possibly damaging	0.85
R2322:Brinp3	UTSW	1	146,577,492 (GRCm39)	missense	probably benign
R2880:Brinp3	UTSW	1	146,777,740 (GRCm39)	missense	probably damaging	0.98
R3918:Brinp3	UTSW	1	146,627,599 (GRCm39)	missense	probably damaging	0.99
R3939:Brinp3	UTSW	1	146,627,599 (GRCm39)	missense	probably damaging	0.99
R3940:Brinp3	UTSW	1	146,627,599 (GRCm39)	missense	probably damaging	0.99
R3941:Brinp3	UTSW	1	146,627,599 (GRCm39)	missense	probably damaging	0.99
R3942:Brinp3	UTSW	1	146,627,599 (GRCm39)	missense	probably damaging	0.99
R4095:Brinp3	UTSW	1	146,777,430 (GRCm39)	missense	possibly damaging	0.72
R4783:Brinp3	UTSW	1	146,603,378 (GRCm39)	intron	probably benign
R5009:Brinp3	UTSW	1	146,776,787 (GRCm39)	missense	probably benign	0.25
R5034:Brinp3	UTSW	1	146,603,458 (GRCm39)	intron	probably benign
R5166:Brinp3	UTSW	1	146,777,105 (GRCm39)	missense	probably damaging	0.96
R5372:Brinp3	UTSW	1	146,707,464 (GRCm39)	missense	probably damaging	1.00
R5472:Brinp3	UTSW	1	146,777,197 (GRCm39)	missense	possibly damaging	0.86
R5651:Brinp3	UTSW	1	146,577,537 (GRCm39)	missense	probably benign	0.01
R5681:Brinp3	UTSW	1	146,777,484 (GRCm39)	missense	probably benign	0.12
R6351:Brinp3	UTSW	1	146,777,323 (GRCm39)	missense	probably damaging	0.96
R6470:Brinp3	UTSW	1	146,777,644 (GRCm39)	missense	probably damaging	0.99
R6499:Brinp3	UTSW	1	146,777,431 (GRCm39)	missense	possibly damaging	0.86
R7078:Brinp3	UTSW	1	146,390,627 (GRCm39)	nonsense	probably null
R7223:Brinp3	UTSW	1	146,776,812 (GRCm39)	missense	possibly damaging	0.85
R7322:Brinp3	UTSW	1	146,558,426 (GRCm39)	nonsense	probably null
R7347:Brinp3	UTSW	1	146,777,824 (GRCm39)	missense	probably benign	0.22
R7375:Brinp3	UTSW	1	146,777,748 (GRCm39)	missense	possibly damaging	0.91
R7412:Brinp3	UTSW	1	146,777,748 (GRCm39)	missense	possibly damaging	0.91
R7532:Brinp3	UTSW	1	146,777,139 (GRCm39)	missense	probably damaging	0.98
R7562:Brinp3	UTSW	1	146,777,748 (GRCm39)	missense	possibly damaging	0.91
R7576:Brinp3	UTSW	1	146,777,301 (GRCm39)	missense	probably damaging	0.99
R7723:Brinp3	UTSW	1	146,577,409 (GRCm39)	missense	probably damaging	1.00
R7737:Brinp3	UTSW	1	146,558,332 (GRCm39)	missense	probably damaging	0.98
R7793:Brinp3	UTSW	1	146,622,306 (GRCm39)	missense	probably benign	0.20
R8334:Brinp3	UTSW	1	146,777,791 (GRCm39)	missense	probably damaging	0.99
R8401:Brinp3	UTSW	1	146,777,184 (GRCm39)	missense	probably benign	0.17
R9205:Brinp3	UTSW	1	146,777,827 (GRCm39)	missense	possibly damaging	0.57
R9328:Brinp3	UTSW	1	146,707,455 (GRCm39)	missense	probably damaging	0.98
R9602:Brinp3	UTSW	1	146,622,234 (GRCm39)	missense	probably damaging	1.00
X0060:Brinp3	UTSW	1	146,777,524 (GRCm39)	missense	probably benign	0.01
Z1176:Brinp3	UTSW	1	146,777,814 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-05-07