Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02441:Brd7'

293967

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Brd7

Ensembl Gene

ENSMUSG00000031660

Gene Name

bromodomain containing 7

Synonyms

BP75, CELTIX1, bromodomain protein 75 kDa

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.746) question?

Stock #

IGL02441

Quality Score

Status

Chromosome

Chromosomal Location

89057667-89088822 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89070218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 396 (V396A)

Ref Sequence

ENSEMBL: ENSMUSP00000034085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034085]

AlphaFold

O88665

Predicted Effect

probably damaging
Transcript: ENSMUST00000034085
AA Change: V396A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034085
Gene: ENSMUSG00000031660
AA Change: V396A

Domain	Start	End	E-Value	Type
low complexity region	51	68	N/A	INTRINSIC
low complexity region	76	96	N/A	INTRINSIC
BROMO	129	237	9.72e-38	SMART
Pfam:DUF3512	287	534	2.4e-93	PFAM
coiled coil region	535	564	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145609

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149841

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 encodes a protein which is a member of the bromodomain-containing protein family. The product of this gene has been identified as a component of one form of the SWI/SNF chromatin remodeling complex, and as a protein which interacts with p53 and is required for p53-dependent oncogene-induced senescence which prevents tumor growth. Pseudogenes have been described on chromosomes 2, 3, 6, 13 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired cognitive behavior and dendrite morphology in the medial prefrontal cortex. Mice homozygous for a different knock-out allele die in utero prior to E16.5, showing fetal growth retardation and altered limb, blood vessel and organ development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg8	C	T	7: 97,029,504 (GRCm39)	R179C	probably benign	Het
Als2	A	G	1: 59,254,631 (GRCm39)	M242T	probably damaging	Het
Atad1	C	T	19: 32,684,348 (GRCm39)	V17I	probably benign	Het
Bag4	A	G	8: 26,258,136 (GRCm39)	V397A	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdhr4	T	A	9: 107,870,466 (GRCm39)	I123N	possibly damaging	Het
Cep68	A	G	11: 20,189,186 (GRCm39)	F609L	probably benign	Het
Clec3b	C	A	9: 122,980,178 (GRCm39)	P24T	possibly damaging	Het
Ctsg	T	A	14: 56,339,869 (GRCm39)	T9S	probably benign	Het
Dalrd3	A	T	9: 108,448,725 (GRCm39)		probably benign	Het
Dock6	A	T	9: 21,753,222 (GRCm39)	V286E	possibly damaging	Het
Dpep2	G	A	8: 106,711,723 (GRCm39)	A568V	probably benign	Het
Dph5	A	C	3: 115,720,390 (GRCm39)	Q192P	possibly damaging	Het
Eppin	T	A	2: 164,433,698 (GRCm39)	R37*	probably null	Het
Esyt1	A	G	10: 128,348,293 (GRCm39)	L865P	possibly damaging	Het
Exoc6b	A	G	6: 84,981,990 (GRCm39)	L102P	probably damaging	Het
Foxo6	A	G	4: 120,125,232 (GRCm39)	I521T	possibly damaging	Het
Guca1a	A	T	17: 47,705,578 (GRCm39)		probably benign	Het
Hpx	A	G	7: 105,241,430 (GRCm39)	F327S	probably damaging	Het
Hspa12b	A	G	2: 130,980,515 (GRCm39)	M145V	probably null	Het
Hspa4	A	T	11: 53,161,809 (GRCm39)	S448T	probably benign	Het
Kbtbd6	T	C	14: 79,690,759 (GRCm39)	Y422H	probably benign	Het
Lama4	A	T	10: 38,937,441 (GRCm39)	D677V	probably benign	Het
Ldb1	C	T	19: 46,024,195 (GRCm39)	E111K	probably damaging	Het
Macf1	A	G	4: 123,281,029 (GRCm39)	S3823P	probably damaging	Het
Man1a2	G	A	3: 100,499,189 (GRCm39)	T415I	probably benign	Het
Map3k2	T	C	18: 32,333,099 (GRCm39)		probably benign	Het
Morn5	T	A	2: 35,945,038 (GRCm39)	Y87*	probably null	Het
Mpp3	T	C	11: 101,900,501 (GRCm39)	D326G	probably benign	Het
Mrgprx1	T	C	7: 47,671,336 (GRCm39)	H137R	probably benign	Het
Nav2	C	A	7: 49,102,260 (GRCm39)	P292T	probably damaging	Het
Nlrp2	C	A	7: 5,338,566 (GRCm39)		probably null	Het
Noxo1	G	A	17: 24,918,030 (GRCm39)	S112N	probably damaging	Het
Nudt9	G	T	5: 104,212,885 (GRCm39)	K319N	probably benign	Het
Or8b38	A	T	9: 37,973,233 (GRCm39)	I206L	probably benign	Het
Osbpl7	C	A	11: 96,958,528 (GRCm39)	Q728K	probably damaging	Het
Pcsk1	A	T	13: 75,280,282 (GRCm39)	E702D	probably benign	Het
Piezo2	T	C	18: 63,205,933 (GRCm39)	D1492G	probably damaging	Het
Plekhg1	A	G	10: 3,908,103 (GRCm39)	K1007E	possibly damaging	Het
Ppp6r3	G	A	19: 3,514,693 (GRCm39)	P141S	probably benign	Het
Prrt3	T	C	6: 113,473,977 (GRCm39)	T354A	probably damaging	Het
Ptk2	C	A	15: 73,192,675 (GRCm39)	W181L	probably benign	Het
Rif1	T	A	2: 51,995,527 (GRCm39)	H915Q	probably benign	Het
Selenbp2	G	T	3: 94,611,371 (GRCm39)	V361L	probably benign	Het
Slamf7	A	G	1: 171,468,625 (GRCm39)	L89P	probably damaging	Het
Slc6a21	G	A	7: 44,937,505 (GRCm39)	V599M	probably damaging	Het
Sltm	G	T	9: 70,494,467 (GRCm39)	S921I	probably damaging	Het
Smc4	C	A	3: 68,913,544 (GRCm39)	A44E	probably damaging	Het
Tdrd5	A	T	1: 156,087,513 (GRCm39)		probably benign	Het
Tead2	T	A	7: 44,866,845 (GRCm39)	I68N	probably damaging	Het
Tnks1bp1	T	A	2: 84,902,143 (GRCm39)	S1680T	probably damaging	Het
Topbp1	T	C	9: 103,197,438 (GRCm39)	V386A	possibly damaging	Het
Tpx2	C	A	2: 152,724,207 (GRCm39)	P328T	possibly damaging	Het
Ttn	T	A	2: 76,576,332 (GRCm39)	I24854F	probably damaging	Het
Zbtb11	G	A	16: 55,794,552 (GRCm39)	R43H	possibly damaging	Het
Zfp609	A	G	9: 65,610,611 (GRCm39)	L784S	possibly damaging	Het
Zfp703	T	C	8: 27,470,036 (GRCm39)	S567P	probably damaging	Het
Zfp750	A	G	11: 121,404,455 (GRCm39)	I140T	probably benign	Het

Other mutations in Brd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01947:Brd7	APN	8	89,059,503 (GRCm39)	unclassified	probably benign
IGL02172:Brd7	APN	8	89,078,452 (GRCm39)	missense	probably benign	0.41
R0241:Brd7	UTSW	8	89,072,478 (GRCm39)	missense	probably benign	0.01
R0241:Brd7	UTSW	8	89,072,478 (GRCm39)	missense	probably benign	0.01
R0845:Brd7	UTSW	8	89,069,395 (GRCm39)	nonsense	probably null
R1613:Brd7	UTSW	8	89,073,578 (GRCm39)	missense	probably benign	0.00
R1659:Brd7	UTSW	8	89,060,420 (GRCm39)	missense	probably damaging	1.00
R1663:Brd7	UTSW	8	89,084,651 (GRCm39)	missense	possibly damaging	0.87
R2237:Brd7	UTSW	8	89,073,541 (GRCm39)	missense	probably benign	0.22
R2280:Brd7	UTSW	8	89,069,385 (GRCm39)	missense	probably benign	0.00
R2916:Brd7	UTSW	8	89,069,408 (GRCm39)	missense	probably damaging	0.98
R2917:Brd7	UTSW	8	89,069,408 (GRCm39)	missense	probably damaging	0.98
R3770:Brd7	UTSW	8	89,066,035 (GRCm39)	critical splice donor site	probably null
R4030:Brd7	UTSW	8	89,059,559 (GRCm39)	missense	probably damaging	1.00
R5287:Brd7	UTSW	8	89,084,169 (GRCm39)	missense	probably damaging	1.00
R5403:Brd7	UTSW	8	89,084,169 (GRCm39)	missense	probably damaging	1.00
R6333:Brd7	UTSW	8	89,071,819 (GRCm39)	missense	probably damaging	1.00
R7021:Brd7	UTSW	8	89,073,632 (GRCm39)	missense	probably benign	0.00
R7072:Brd7	UTSW	8	89,073,615 (GRCm39)	missense	probably benign
R7445:Brd7	UTSW	8	89,088,336 (GRCm39)	missense	probably damaging	1.00
R7482:Brd7	UTSW	8	89,088,254 (GRCm39)	missense	probably damaging	0.99
R7977:Brd7	UTSW	8	89,060,769 (GRCm39)	missense	probably benign
R7987:Brd7	UTSW	8	89,060,769 (GRCm39)	missense	probably benign
R8205:Brd7	UTSW	8	89,070,243 (GRCm39)	missense	probably damaging	1.00
R8814:Brd7	UTSW	8	89,071,782 (GRCm39)	missense	probably benign	0.00
R8984:Brd7	UTSW	8	89,081,340 (GRCm39)	missense	probably benign	0.00
R9190:Brd7	UTSW	8	89,081,274 (GRCm39)	missense	probably damaging	1.00
R9296:Brd7	UTSW	8	89,059,560 (GRCm39)	missense	possibly damaging	0.46
X0067:Brd7	UTSW	8	89,070,325 (GRCm39)	splice site	probably null

Posted On

2015-04-16