Mutagenetix > Incidental Mutation

Incidental Mutation 'R9577:Brms1l'

722378

Institutional Source

Beutler Lab

Gene Symbol

Brms1l

Ensembl Gene

ENSMUSG00000012076

Gene Name

breast cancer metastasis-suppressor 1-like

Synonyms

0710008O11Rik, D12Ertd407e, BRMS1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R9577 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55883109-55916521 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55906876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 148 (S148G)

Ref Sequence

ENSEMBL: ENSMUSP00000082500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059250] [ENSMUST00000219419]

AlphaFold

Q3U1T3

Predicted Effect

probably damaging
Transcript: ENSMUST00000059250
AA Change: S148G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082500
Gene: ENSMUSG00000012076
AA Change: S148G

Domain	Start	End	E-Value	Type
low complexity region	24	55	N/A	INTRINSIC
Pfam:Sds3	61	217	1.5e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000219419

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shows sequence similarity to the human breast carcinoma metastasis suppressor (BRMS1) protein and the mammalian Sds3 (suppressor of defective silencing 3) proteins. This protein is a component of the mSin3a family of histone deacetylase complexes (HDAC). [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	G	T	18: 24,608,663 (GRCm39)	A128S	probably benign	Het
Abca14	T	C	7: 119,810,768 (GRCm39)	Y116H	probably benign	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Ankar	C	A	1: 72,721,067 (GRCm39)	V464L	probably benign	Het
Arap2	A	T	5: 62,769,060 (GRCm39)	I1526N	probably damaging	Het
Atad5	T	A	11: 80,004,996 (GRCm39)	N1144K	probably damaging	Het
B3gntl1	T	C	11: 121,515,040 (GRCm39)	T243A	probably benign	Het
Baz2b	T	C	2: 59,809,031 (GRCm39)	T73A	probably benign	Het
Bnip5	A	T	17: 29,128,382 (GRCm39)	I177K	probably benign	Het
Btnl1	A	G	17: 34,603,335 (GRCm39)	D332G	probably benign	Het
Card9	T	A	2: 26,242,344 (GRCm39)	T531S	probably damaging	Het
Ccdc71	C	T	9: 108,340,472 (GRCm39)	A95V	possibly damaging	Het
Cdh23	A	G	10: 60,146,895 (GRCm39)	V2787A	probably damaging	Het
Chd7	A	G	4: 8,752,964 (GRCm39)	E487G	unknown	Het
Col22a1	T	C	15: 71,837,595 (GRCm39)	K505R	probably damaging	Het
Dennd1b	T	C	1: 139,018,196 (GRCm39)	V180A		Het
Dmxl2	A	G	9: 54,323,664 (GRCm39)	V1066A	unknown	Het
Dnah9	C	T	11: 65,867,347 (GRCm39)	V2744M	probably benign	Het
Fam83e	G	T	7: 45,376,439 (GRCm39)	R384L	possibly damaging	Het
Fbxo42	T	A	4: 140,907,743 (GRCm39)	Y134*	probably null	Het
Fmn1	C	T	2: 113,194,470 (GRCm39)	P57S	unknown	Het
Gm6309	T	C	5: 146,105,700 (GRCm39)	R155G	possibly damaging	Het
Gnpda1	T	C	18: 38,463,605 (GRCm39)	T235A	probably benign	Het
Gsdmc2	T	A	15: 63,696,906 (GRCm39)	I422F	probably damaging	Het
Itfg1	A	G	8: 86,502,798 (GRCm39)	V256A	probably benign	Het
Kcnk2	CAAA	CAA	1: 188,988,891 (GRCm39)		probably null	Het
Kif14	T	C	1: 136,399,138 (GRCm39)	V433A	probably benign	Het
Kif3a	T	C	11: 53,475,231 (GRCm39)	F363S	probably damaging	Het
Lman2l	T	C	1: 36,467,490 (GRCm39)	D186G	probably damaging	Het
Lmntd2	T	C	7: 140,790,990 (GRCm39)	T448A	probably benign	Het
Magi2	C	T	5: 20,814,282 (GRCm39)	A898V	probably damaging	Het
Mri1	A	G	8: 84,982,929 (GRCm39)	V164A	probably damaging	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Nxpe2	G	A	9: 48,237,632 (GRCm39)	R208*	probably null	Het
Or1j1	C	A	2: 36,702,567 (GRCm39)	C179F	probably damaging	Het
Or8g28	A	G	9: 39,169,737 (GRCm39)	V77A	possibly damaging	Het
Pcdha12	C	T	18: 37,155,126 (GRCm39)	A615V	probably benign	Het
Pou4f3	C	G	18: 42,528,563 (GRCm39)	P169A	probably benign	Het
Pramel52-ps	A	T	5: 94,531,805 (GRCm39)	R230*	probably null	Het
Prss36	T	C	7: 127,533,673 (GRCm39)	I556V	probably benign	Het
Psg23	A	T	7: 18,346,067 (GRCm39)	D209E	probably benign	Het
Ptpn13	C	A	5: 103,676,675 (GRCm39)	D679E	probably damaging	Het
Ptprz1	G	T	6: 23,002,202 (GRCm39)	D1431Y	probably damaging	Het
Sdccag8	T	A	1: 176,658,629 (GRCm39)	L143M	probably damaging	Het
Shroom1	A	G	11: 53,357,612 (GRCm39)	Q721R	probably benign	Het
Spdye4b	A	G	5: 143,182,055 (GRCm39)	M118V	probably damaging	Het
Tbc1d1	T	A	5: 64,473,699 (GRCm39)	S741T	possibly damaging	Het
Tbx18	A	G	9: 87,611,512 (GRCm39)		probably null	Het
Tm9sf4	T	C	2: 153,037,294 (GRCm39)	F385S	probably benign	Het
Trpm4	A	T	7: 44,954,432 (GRCm39)	L1133*	probably null	Het
Trpm5	A	G	7: 142,633,131 (GRCm39)		probably null	Het
Ube4b	A	G	4: 149,468,231 (GRCm39)	S182P	possibly damaging	Het
Ugt2b36	T	C	5: 87,228,784 (GRCm39)	T420A	probably benign	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Zc3h6	T	A	2: 128,858,102 (GRCm39)	I711K		Het
Zer1	T	C	2: 29,991,050 (GRCm39)	Y726C	probably damaging	Het

Other mutations in Brms1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Brms1l	APN	12	55,892,111 (GRCm39)	missense	probably benign	0.15
IGL00951:Brms1l	APN	12	55,912,834 (GRCm39)	missense	possibly damaging	0.54
IGL02199:Brms1l	APN	12	55,907,957 (GRCm39)	critical splice donor site	probably benign
IGL02669:Brms1l	APN	12	55,888,401 (GRCm39)	missense	probably damaging	1.00
IGL03158:Brms1l	APN	12	55,883,320 (GRCm39)	missense	possibly damaging	0.83
IGL03184:Brms1l	APN	12	55,915,062 (GRCm39)	makesense	probably null
R0445:Brms1l	UTSW	12	55,908,191 (GRCm39)	nonsense	probably null
R0568:Brms1l	UTSW	12	55,908,173 (GRCm39)	critical splice acceptor site	probably null
R0942:Brms1l	UTSW	12	55,912,742 (GRCm39)	missense	probably benign	0.00
R0968:Brms1l	UTSW	12	55,912,798 (GRCm39)	missense	possibly damaging	0.73
R1240:Brms1l	UTSW	12	55,891,293 (GRCm39)	missense	probably damaging	1.00
R1580:Brms1l	UTSW	12	55,915,007 (GRCm39)	missense	probably damaging	1.00
R1694:Brms1l	UTSW	12	55,888,385 (GRCm39)	missense	probably damaging	1.00
R1926:Brms1l	UTSW	12	55,909,946 (GRCm39)	missense	possibly damaging	0.69
R4626:Brms1l	UTSW	12	55,909,958 (GRCm39)	missense	probably benign	0.01
R4669:Brms1l	UTSW	12	55,888,356 (GRCm39)	missense	possibly damaging	0.83
R4987:Brms1l	UTSW	12	55,912,800 (GRCm39)	missense	probably benign	0.15
R6010:Brms1l	UTSW	12	55,914,985 (GRCm39)	missense	possibly damaging	0.55
R6129:Brms1l	UTSW	12	55,914,970 (GRCm39)	missense	probably benign	0.03
R7429:Brms1l	UTSW	12	55,892,084 (GRCm39)	missense	probably damaging	1.00
R7430:Brms1l	UTSW	12	55,892,084 (GRCm39)	missense	probably damaging	1.00
R7510:Brms1l	UTSW	12	55,892,107 (GRCm39)	nonsense	probably null
R7543:Brms1l	UTSW	12	55,914,997 (GRCm39)	missense	probably damaging	1.00
R7855:Brms1l	UTSW	12	55,912,838 (GRCm39)	missense	possibly damaging	0.90
R8200:Brms1l	UTSW	12	55,891,183 (GRCm39)	missense	probably damaging	1.00
R8376:Brms1l	UTSW	12	55,888,414 (GRCm39)	missense	probably benign	0.03
R8532:Brms1l	UTSW	12	55,891,264 (GRCm39)	missense	probably damaging	1.00
R9131:Brms1l	UTSW	12	55,906,913 (GRCm39)	missense	possibly damaging	0.93
R9335:Brms1l	UTSW	12	55,888,431 (GRCm39)	missense	possibly damaging	0.96
R9433:Brms1l	UTSW	12	55,912,863 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AACTGACCCCTGGTTTTATTTCT -3'
(R):5'- AGCTAGGACACTGCATTTGC -3'

Sequencing Primer
(F):5'- GGCGAGCACTTATCTAGCATGTAC -3'
(R):5'- TTGCATAGCATCCACTGGAG -3'

Posted On

2022-08-09