Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02366:Brinp3'

290728

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: 0.253) question?

Stock #

IGL02366

Quality Score

Status

Chromosome

Chromosomal Location

146494760-146902472 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146701743 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 172 (V172D)

Ref Sequence

ENSEMBL: ENSMUSP00000126074 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074622
AA Change: V172D

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074201
Gene: ENSMUSG00000035131
AA Change: V172D

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: ENSMUST00000132847
AA Change: V172D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118552
Gene: ENSMUSG00000035131
AA Change: V172D

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166814
AA Change: V172D

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126074
Gene: ENSMUSG00000035131
AA Change: V172D

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	T	A	15: 12,810,773	H339L	probably benign	Het
Abcc1	T	C	16: 14,467,979		probably benign	Het
Ankrd55	T	C	13: 112,318,460	Y3H	probably damaging	Het
Armcx4	A	C	X: 134,691,512	K723T	possibly damaging	Het
Cemip	C	T	7: 83,943,641	R1226Q	probably benign	Het
Cntn5	A	T	9: 9,984,055		probably benign	Het
Cyld	T	C	8: 88,729,753	V474A	probably damaging	Het
Dhx40	T	C	11: 86,776,702	E537G	probably damaging	Het
Efhc1	A	G	1: 20,960,262	N140D	probably damaging	Het
Eif6	A	G	2: 155,826,172	V49A	probably benign	Het
Epha4	G	T	1: 77,426,711	Y386*	probably null	Het
Ggnbp2	T	C	11: 84,841,601	K222R	probably damaging	Het
Gm5117	T	C	8: 31,737,859		noncoding transcript	Het
Gm5852	A	T	3: 93,727,261		noncoding transcript	Het
Hadha	A	G	5: 30,135,050	V243A	probably benign	Het
Hal	A	G	10: 93,503,528	N493S	probably damaging	Het
Insrr	A	G	3: 87,809,909	T731A	possibly damaging	Het
Irs4	A	T	X: 141,723,904	L432H	probably damaging	Het
Kdm4a	T	G	4: 118,160,506		probably null	Het
Lhx4	T	C	1: 155,705,188	D197G	possibly damaging	Het
Mllt10	T	A	2: 18,065,087	M18K	probably damaging	Het
Nars	T	C	18: 64,503,528	T422A	possibly damaging	Het
Ncf2	A	G	1: 152,835,073	D445G	probably benign	Het
Ndor1	C	A	2: 25,247,981	G544V	possibly damaging	Het
Notch3	C	A	17: 32,144,205	R1268L	probably benign	Het
Olfr1472	T	C	19: 13,454,127	Y130C	probably damaging	Het
Olfr229	T	C	9: 39,909,992	L63P	probably damaging	Het
Olfr616	A	T	7: 103,564,415	V288D	probably damaging	Het
Olfr771	A	T	10: 129,160,625	Y120N	probably damaging	Het
Osgep	T	C	14: 50,919,950	D72G	probably damaging	Het
Pank4	C	T	4: 154,969,628	T88I	probably benign	Het
Pcgf6	T	C	19: 47,050,455	E122G	possibly damaging	Het
Ppp1r21	A	G	17: 88,547,662	H123R	probably damaging	Het
Prex1	A	C	2: 166,580,427	L28R	probably damaging	Het
Rbl1	A	T	2: 157,174,893	N595K	probably benign	Het
Rnf148	T	C	6: 23,654,059	I313V	probably benign	Het
Rnf220	T	C	4: 117,489,783	N144S	probably benign	Het
Sbno2	G	A	10: 80,064,202	T577I	probably damaging	Het
Sez6	T	C	11: 77,976,882	I875T	probably damaging	Het
Slco1a5	A	T	6: 142,250,215	V354D	possibly damaging	Het
Slit2	A	T	5: 48,304,068	T1486S	possibly damaging	Het
Snd1	T	C	6: 28,707,150		probably benign	Het
Sval3	T	C	6: 41,969,725		probably benign	Het
Tmem94	T	C	11: 115,797,432	L1239P	probably damaging	Het
Trpm6	T	C	19: 18,778,510		probably benign	Het
Ttc9	A	C	12: 81,631,610	D69A	possibly damaging	Het
Ttn	A	T	2: 76,763,236	L20687M	probably benign	Het
Zfp748	T	A	13: 67,545,427		probably benign	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
IGL02565:Brinp3	APN	1	146902032	missense	probably damaging	0.98
IGL02999:Brinp3	APN	1	146701849	splice site	probably null
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
X0060:Brinp3	UTSW	1	146901786	missense	probably benign	0.01
Z1176:Brinp3	UTSW	1	146902076	missense	probably damaging	0.99

Posted On

2015-04-16