Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02540:Brpf3'

297672

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Brpf3

Ensembl Gene

ENSMUSG00000063952

Gene Name

bromodomain and PHD finger containing, 3

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.459) question?

Stock #

IGL02540

Quality Score

Status

Chromosome

Chromosomal Location

29020088-29057763 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 29047328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1031 (P1031S)

Ref Sequence

ENSEMBL: ENSMUSP00000004985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004985]

AlphaFold

B2KF05

Predicted Effect

probably damaging
Transcript: ENSMUST00000004985
AA Change: P1031S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000004985
Gene: ENSMUSG00000063952
AA Change: P1031S

Domain	Start	End	E-Value	Type
Pfam:EPL1	48	194	8.4e-38	PFAM
PHD	214	260	7.07e-5	SMART
PHD	324	387	4.74e-6	SMART
low complexity region	405	436	N/A	INTRINSIC
Blast:BROMO	491	534	7e-21	BLAST
low complexity region	558	577	N/A	INTRINSIC
BROMO	586	694	4.93e-39	SMART
low complexity region	777	792	N/A	INTRINSIC
low complexity region	813	823	N/A	INTRINSIC
PWWP	1073	1156	2.07e-38	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140587

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140973

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144022

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156029

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous knockout does not result in any obvious neurological, behavioral, developmental, histological, hematological, survival or reproductive phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipor2	C	A	6: 119,336,456 (GRCm39)	R169L	probably benign	Het
Arhgap1	C	T	2: 91,500,584 (GRCm39)	T371I	probably damaging	Het
Cenpu	A	G	8: 47,031,354 (GRCm39)	H245R	probably damaging	Het
Dhx36	A	G	3: 62,414,309 (GRCm39)	S18P	probably benign	Het
Dst	A	G	1: 34,174,285 (GRCm39)	T217A	probably damaging	Het
Ecpas	A	T	4: 58,805,534 (GRCm39)		probably benign	Het
Entpd8	A	G	2: 24,974,731 (GRCm39)		probably null	Het
Fez1	A	G	9: 36,761,695 (GRCm39)	R122G	probably damaging	Het
Heatr5b	A	T	17: 79,081,001 (GRCm39)	M1417K	probably damaging	Het
Higd1c	T	C	15: 100,263,247 (GRCm39)		probably benign	Het
Icosl	G	A	10: 77,905,370 (GRCm39)		probably null	Het
Il24	T	C	1: 130,815,040 (GRCm39)		probably benign	Het
Kank3	T	A	17: 34,038,161 (GRCm39)		probably benign	Het
Lrriq1	A	G	10: 103,050,880 (GRCm39)	L624P	probably benign	Het
Mov10l1	C	A	15: 88,902,414 (GRCm39)	T768K	probably benign	Het
Or14a258	T	A	7: 86,035,386 (GRCm39)	T161S	possibly damaging	Het
Or5ak25	A	G	2: 85,269,259 (GRCm39)	M81T	probably benign	Het
Or5aq7	A	T	2: 86,938,386 (GRCm39)	L115Q	probably damaging	Het
Pkn2	A	T	3: 142,515,465 (GRCm39)	F649I	probably benign	Het
Pld1	A	G	3: 28,083,309 (GRCm39)		probably benign	Het
Prrc2c	G	A	1: 162,550,706 (GRCm39)	S86L	probably damaging	Het
Rai1	G	A	11: 60,077,750 (GRCm39)	A605T	probably benign	Het
Reln	T	A	5: 22,239,750 (GRCm39)	Q839L	probably damaging	Het
Rrp9	T	C	9: 106,360,746 (GRCm39)		probably benign	Het
Tanc1	G	T	2: 59,663,602 (GRCm39)	G1120C	probably damaging	Het
Tmtc2	A	T	10: 105,249,200 (GRCm39)	C178S	probably benign	Het
Vmn1r172	T	A	7: 23,359,350 (GRCm39)	F78L	probably benign	Het
Zfpm1	A	G	8: 123,058,859 (GRCm39)	S160G	possibly damaging	Het

Other mutations in Brpf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Brpf3	APN	17	29,055,674 (GRCm39)	utr 3 prime	probably benign
IGL01397:Brpf3	APN	17	29,036,606 (GRCm39)	missense	probably benign	0.22
IGL01608:Brpf3	APN	17	29,040,491 (GRCm39)	missense	probably benign	0.00
IGL02073:Brpf3	APN	17	29,026,370 (GRCm39)	missense	probably benign
IGL02838:Brpf3	APN	17	29,054,758 (GRCm39)	missense	probably benign	0.19
IGL02888:Brpf3	APN	17	29,047,365 (GRCm39)	missense	probably damaging	1.00
IGL02969:Brpf3	APN	17	29,040,279 (GRCm39)	missense	probably benign	0.05
IGL03036:Brpf3	APN	17	29,043,022 (GRCm39)	missense	possibly damaging	0.89
IGL03084:Brpf3	APN	17	29,054,751 (GRCm39)	missense	probably damaging	0.98
R0448:Brpf3	UTSW	17	29,025,010 (GRCm39)	missense	probably benign	0.10
R0898:Brpf3	UTSW	17	29,025,964 (GRCm39)	missense	possibly damaging	0.65
R1268:Brpf3	UTSW	17	29,055,530 (GRCm39)	missense	probably damaging	0.98
R1639:Brpf3	UTSW	17	29,043,042 (GRCm39)	critical splice donor site	probably null
R1754:Brpf3	UTSW	17	29,040,297 (GRCm39)	missense	probably benign	0.00
R1867:Brpf3	UTSW	17	29,026,342 (GRCm39)	missense	probably benign
R1954:Brpf3	UTSW	17	29,025,533 (GRCm39)	missense	probably benign
R2000:Brpf3	UTSW	17	29,040,531 (GRCm39)	missense	probably benign	0.20
R2064:Brpf3	UTSW	17	29,040,338 (GRCm39)	missense	probably benign
R2209:Brpf3	UTSW	17	29,047,394 (GRCm39)	missense	probably damaging	0.98
R2413:Brpf3	UTSW	17	29,024,924 (GRCm39)	start gained	probably benign
R3977:Brpf3	UTSW	17	29,026,016 (GRCm39)	missense	possibly damaging	0.49
R4067:Brpf3	UTSW	17	29,040,233 (GRCm39)	missense	probably benign
R4291:Brpf3	UTSW	17	29,042,949 (GRCm39)	missense	probably benign	0.00
R4369:Brpf3	UTSW	17	29,055,594 (GRCm39)	missense	probably damaging	1.00
R4371:Brpf3	UTSW	17	29,055,594 (GRCm39)	missense	probably damaging	1.00
R4741:Brpf3	UTSW	17	29,036,758 (GRCm39)	missense	possibly damaging	0.50
R4773:Brpf3	UTSW	17	29,040,233 (GRCm39)	missense	probably benign	0.00
R4824:Brpf3	UTSW	17	29,025,460 (GRCm39)	missense	probably benign
R5360:Brpf3	UTSW	17	29,029,536 (GRCm39)	missense	probably benign
R5923:Brpf3	UTSW	17	29,025,610 (GRCm39)	missense	possibly damaging	0.90
R6181:Brpf3	UTSW	17	29,029,555 (GRCm39)	missense	probably damaging	1.00
R6278:Brpf3	UTSW	17	29,040,258 (GRCm39)	missense	probably benign	0.00
R6702:Brpf3	UTSW	17	29,029,633 (GRCm39)	missense	probably benign	0.01
R6884:Brpf3	UTSW	17	29,050,324 (GRCm39)	missense	probably benign	0.03
R6920:Brpf3	UTSW	17	29,042,970 (GRCm39)	missense	probably benign	0.34
R6976:Brpf3	UTSW	17	29,054,751 (GRCm39)	missense	probably damaging	0.98
R7099:Brpf3	UTSW	17	29,025,611 (GRCm39)	missense	probably benign	0.06
R7108:Brpf3	UTSW	17	29,036,099 (GRCm39)	missense	probably benign	0.01
R7193:Brpf3	UTSW	17	29,055,665 (GRCm39)	makesense	probably null
R7316:Brpf3	UTSW	17	29,033,660 (GRCm39)	missense	probably damaging	1.00
R7326:Brpf3	UTSW	17	29,025,267 (GRCm39)	missense	probably benign	0.00
R7403:Brpf3	UTSW	17	29,040,330 (GRCm39)	missense	probably benign
R7666:Brpf3	UTSW	17	29,029,546 (GRCm39)	missense	possibly damaging	0.83
R7686:Brpf3	UTSW	17	29,025,908 (GRCm39)	missense	probably damaging	0.98
R7691:Brpf3	UTSW	17	29,025,805 (GRCm39)	missense	probably damaging	1.00
R8054:Brpf3	UTSW	17	29,055,571 (GRCm39)	missense	probably damaging	1.00
R8165:Brpf3	UTSW	17	29,025,248 (GRCm39)	missense	probably benign	0.01
R8200:Brpf3	UTSW	17	29,025,248 (GRCm39)	missense	probably benign	0.01
R8698:Brpf3	UTSW	17	29,037,436 (GRCm39)	missense	probably damaging	0.99
R8722:Brpf3	UTSW	17	29,029,510 (GRCm39)	missense	probably benign	0.42
R8738:Brpf3	UTSW	17	29,040,214 (GRCm39)	missense	probably benign
R9044:Brpf3	UTSW	17	29,025,871 (GRCm39)	missense	possibly damaging	0.90
R9250:Brpf3	UTSW	17	29,054,788 (GRCm39)	missense	probably damaging	1.00
R9349:Brpf3	UTSW	17	29,040,276 (GRCm39)	missense	probably benign	0.00
R9496:Brpf3	UTSW	17	29,040,453 (GRCm39)	missense	probably benign
R9564:Brpf3	UTSW	17	29,026,152 (GRCm39)	missense	probably benign
R9649:Brpf3	UTSW	17	29,037,597 (GRCm39)	missense	probably benign
R9720:Brpf3	UTSW	17	29,026,330 (GRCm39)	missense	probably benign	0.13
Z1177:Brpf3	UTSW	17	29,040,452 (GRCm39)	missense	probably benign

Posted On

2015-04-16