Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00467:Brinp3'

7355

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 #

IGL00467

Quality Score

Status

Chromosome

Chromosomal Location

146371367-146778210 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146777512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 653 (D653G)

Ref Sequence

ENSEMBL: ENSMUSP00000126074 (fasta)

Gene Model

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

AlphaFold

Q499E0

Predicted Effect

probably damaging
Transcript: ENSMUST00000074622
AA Change: D653G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074201
Gene: ENSMUSG00000035131
AA Change: D653G

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 damaging
Transcript: ENSMUST00000166814
AA Change: D653G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126074
Gene: ENSMUSG00000035131
AA Change: D653G

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,036,496 (GRCm39)		probably benign	Het
Acvrl1	C	A	15: 101,041,221 (GRCm39)		probably null	Het
Ahnak	T	A	19: 8,984,587 (GRCm39)	M1957K	probably damaging	Het
Dcstamp	T	A	15: 39,617,812 (GRCm39)	C74S	probably benign	Het
Esrrg	A	G	1: 187,943,107 (GRCm39)	E360G	probably damaging	Het
Fam13a	C	T	6: 58,917,098 (GRCm39)		probably benign	Het
Glipr1l1	A	G	10: 111,914,286 (GRCm39)	T216A	probably benign	Het
Lama2	T	A	10: 27,343,193 (GRCm39)		probably benign	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mta3	T	A	17: 84,063,113 (GRCm39)		probably benign	Het
Nfu1	A	G	6: 86,997,755 (GRCm39)	M213V	possibly damaging	Het
Pam	A	T	1: 97,852,152 (GRCm39)		probably benign	Het
Pcca	A	T	14: 122,820,041 (GRCm39)	M62L	probably benign	Het
Phf6	A	G	X: 52,020,523 (GRCm39)	Y25C	probably damaging	Het
Phlpp2	C	T	8: 110,652,422 (GRCm39)	H589Y	probably benign	Het
Ppp1r13b	A	G	12: 111,795,804 (GRCm39)	I956T	probably damaging	Het
Prkcd	G	A	14: 30,324,379 (GRCm39)		probably benign	Het
Rapgef4	A	T	2: 72,086,656 (GRCm39)	N973I	possibly damaging	Het
Rnf20	G	T	4: 49,655,480 (GRCm39)	E905*	probably null	Het
Slc26a6	T	A	9: 108,733,088 (GRCm39)	D22E	probably benign	Het
Sp2	C	T	11: 96,845,387 (GRCm39)	R578H	probably damaging	Het
Taf6l	A	T	19: 8,760,752 (GRCm39)	N57K	probably benign	Het
Tas2r109	C	A	6: 132,956,986 (GRCm39)	V315L	probably benign	Het
Tasor	A	G	14: 27,170,121 (GRCm39)	N350S	probably benign	Het
Tex9	T	C	9: 72,385,117 (GRCm39)	T240A	probably benign	Het
Trank1	G	A	9: 111,193,734 (GRCm39)		probably benign	Het
Trim30c	A	T	7: 104,031,389 (GRCm39)	Y475*	probably null	Het
Trim60	T	C	8: 65,453,371 (GRCm39)	T293A	possibly damaging	Het
Ttc21b	T	C	2: 66,018,708 (GRCm39)	Y1233C	probably damaging	Het
Wdr75	A	G	1: 45,841,235 (GRCm39)	I106V	probably benign	Het
Zkscan16	T	C	4: 58,957,709 (GRCm39)	S664P	possibly damaging	Het

Other mutations in Brinp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02020:Brinp3	APN	1	146,777,865 (GRCm39)	utr 3 prime	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

2012-04-20