Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02583:Brms1'

299446

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Brms1

Ensembl Gene

ENSMUSG00000080268

Gene Name

breast cancer metastasis-suppressor 1

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.848) question?

Stock #

IGL02583

Quality Score

Status

Chromosome

Chromosomal Location

5091391-5099940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5096206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 61 (V61D)

Ref Sequence

ENSEMBL: ENSMUSP00000112266 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025818] [ENSMUST00000116567] [ENSMUST00000224178] [ENSMUST00000224288] [ENSMUST00000224363] [ENSMUST00000225427] [ENSMUST00000225799]

AlphaFold

Q99N20

Predicted Effect

probably benign
Transcript: ENSMUST00000025818

SMART Domains

Protein: ENSMUSP00000025818
Gene: ENSMUSG00000024883

Domain	Start	End	E-Value	Type
SH2	66	153	2.16e-5	SMART
low complexity region	241	264	N/A	INTRINSIC
low complexity region	286	300	N/A	INTRINSIC
low complexity region	307	341	N/A	INTRINSIC
low complexity region	405	422	N/A	INTRINSIC
low complexity region	432	454	N/A	INTRINSIC
VPS9	478	596	2.29e-64	SMART
RA	613	694	1.14e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000116567
AA Change: V61D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112266
Gene: ENSMUSG00000080268
AA Change: V61D

Domain	Start	End	E-Value	Type
low complexity region	29	59	N/A	INTRINSIC
Pfam:Sds3	60	209	5.3e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224178

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224254

Predicted Effect

probably benign
Transcript: ENSMUST00000224288

Predicted Effect

probably benign
Transcript: ENSMUST00000224363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225203

Predicted Effect

probably benign
Transcript: ENSMUST00000225427

Predicted Effect

probably benign
Transcript: ENSMUST00000225799

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 reduces the metastatic potential, but not the tumorogenicity, of human breast cancer and melanoma cell lines. The protein encoded by this gene localizes primarily to the nucleus and is a component of the mSin3a family of histone deacetylase complexes (HDAC). The protein contains two coiled-coil motifs and several imperfect leucine zipper motifs. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(12) : Targeted(2) Gene trapped(10)

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	C	T	5: 26,684,717 (GRCm39)		noncoding transcript	Het
A430005L14Rik	T	A	4: 154,045,392 (GRCm39)	D140E	possibly damaging	Het
Bod1l	C	T	5: 41,973,550 (GRCm39)		probably null	Het
Card11	A	T	5: 140,863,881 (GRCm39)	N952K	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cimap2	A	T	4: 106,468,602 (GRCm39)		probably benign	Het
Col15a1	T	C	4: 47,279,866 (GRCm39)	V697A	probably benign	Het
Col7a1	A	T	9: 108,791,297 (GRCm39)	I1118F	unknown	Het
Cyfip2	T	C	11: 46,140,585 (GRCm39)	E746G	possibly damaging	Het
Dach1	A	G	14: 98,065,830 (GRCm39)		probably benign	Het
Dock11	G	T	X: 35,270,370 (GRCm39)	G1023W	possibly damaging	Het
Fbxo10	T	C	4: 45,044,754 (GRCm39)	D453G	probably damaging	Het
Fhad1	T	C	4: 141,738,955 (GRCm39)		probably benign	Het
Gm17415	A	G	1: 93,349,801 (GRCm39)		probably benign	Het
Gm4781	A	T	10: 100,232,507 (GRCm39)		noncoding transcript	Het
Gpatch2	A	C	1: 186,965,514 (GRCm39)		probably null	Het
Gpatch2	G	T	1: 186,965,515 (GRCm39)		probably null	Het
Greb1	A	G	12: 16,756,296 (GRCm39)		probably benign	Het
Greb1l	A	G	18: 10,542,362 (GRCm39)	Y1319C	probably damaging	Het
Ice1	C	T	13: 70,753,854 (GRCm39)	R744H	possibly damaging	Het
Kcnq2	T	A	2: 180,723,295 (GRCm39)	S694C	probably benign	Het
Krt35	C	A	11: 99,983,360 (GRCm39)	V448L	possibly damaging	Het
Lmo7	A	G	14: 102,171,360 (GRCm39)		probably benign	Het
Megf8	T	C	7: 25,055,218 (GRCm39)	S1984P	probably benign	Het
Nlrp1a	T	C	11: 71,014,227 (GRCm39)	Q341R	probably benign	Het
Or1p1	T	A	11: 74,180,330 (GRCm39)	L286Q	probably damaging	Het
Or51a6	T	C	7: 102,603,918 (GRCm39)	T297A	possibly damaging	Het
Osr1	C	T	12: 9,629,675 (GRCm39)	H183Y	probably damaging	Het
Paf1	T	C	7: 28,095,596 (GRCm39)	V202A	probably damaging	Het
Pde10a	A	G	17: 9,200,462 (GRCm39)	K1071E	probably benign	Het
Pwp2	T	C	10: 78,016,917 (GRCm39)	R268G	probably benign	Het
Rwdd1	T	A	10: 33,877,669 (GRCm39)	K178*	probably null	Het
Scn10a	A	T	9: 119,520,506 (GRCm39)		probably benign	Het
Sema3g	A	G	14: 30,943,476 (GRCm39)		probably null	Het
Slc22a6	C	A	19: 8,600,980 (GRCm39)	A391E	possibly damaging	Het
Slc41a3	G	A	6: 90,621,153 (GRCm39)	G372S	probably damaging	Het
Sqor	G	T	2: 122,641,690 (GRCm39)	K3N	probably damaging	Het
Srl	T	C	16: 4,310,244 (GRCm39)	Q495R	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stxbp3	G	T	3: 108,708,187 (GRCm39)	D371E	probably damaging	Het
Tnfrsf19	C	A	14: 61,261,659 (GRCm39)	V47F	probably damaging	Het
Usp11	A	T	X: 20,584,284 (GRCm39)	E622V	probably benign	Het
Vmn1r52	T	A	6: 90,156,126 (GRCm39)	Y143*	probably null	Het
Zfp280d	A	G	9: 72,229,727 (GRCm39)		probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zmat1	T	C	X: 133,874,021 (GRCm39)	T457A	probably damaging	Het

Other mutations in Brms1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Brms1	APN	19	5,099,070 (GRCm39)	unclassified	probably benign
IGL01391:Brms1	APN	19	5,096,723 (GRCm39)	missense	possibly damaging	0.79
PIT4576001:Brms1	UTSW	19	5,096,229 (GRCm39)	missense	probably damaging	1.00
R0054:Brms1	UTSW	19	5,096,727 (GRCm39)	nonsense	probably null
R0054:Brms1	UTSW	19	5,096,727 (GRCm39)	nonsense	probably null
R0670:Brms1	UTSW	19	5,095,999 (GRCm39)	missense	probably damaging	1.00
R1757:Brms1	UTSW	19	5,096,435 (GRCm39)	missense	probably damaging	1.00
R1962:Brms1	UTSW	19	5,096,027 (GRCm39)	missense	probably damaging	0.97
R6963:Brms1	UTSW	19	5,096,681 (GRCm39)	missense	probably damaging	1.00
R7096:Brms1	UTSW	19	5,096,708 (GRCm39)	missense	probably damaging	1.00
R8241:Brms1	UTSW	19	5,096,007 (GRCm39)	missense	probably benign	0.00
R8444:Brms1	UTSW	19	5,091,520 (GRCm39)	critical splice donor site	probably null

Posted On

2015-04-16