Mutagenetix > Incidental Mutation

Incidental Mutation 'R5722:Brme1'

452270

Institutional Source

Beutler Lab

Gene Symbol

Brme1

Ensembl Gene

ENSMUSG00000008129

Gene Name

break repair meiotic recombinase recruitment factor 1

Synonyms

4930432K21Rik, Mamerr, Meiok21

MMRRC Submission

043340-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R5722 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84874654-84899219 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84898473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 537 (E537G)

Ref Sequence

ENSEMBL: ENSMUSP00000113651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070102] [ENSMUST00000093375] [ENSMUST00000118856] [ENSMUST00000210202]

AlphaFold

Q6DIA7

Predicted Effect

probably benign
Transcript: ENSMUST00000070102

SMART Domains

Protein: ENSMUSP00000067385
Gene: ENSMUSG00000056155

Domain	Start	End	E-Value	Type
low complexity region	32	54	N/A	INTRINSIC
Pfam:zf-nanos	57	110	1.2e-28	PFAM
low complexity region	157	178	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000093375
AA Change: E502G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091067
Gene: ENSMUSG00000008129
AA Change: E502G

Domain	Start	End	E-Value	Type
low complexity region	226	241	N/A	INTRINSIC
low complexity region	291	306	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118856
AA Change: E537G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113651
Gene: ENSMUSG00000008129
AA Change: E537G

Domain	Start	End	E-Value	Type
Pfam:DUF4671	1	193	2.1e-62	PFAM
Pfam:DUF4671	181	600	7.3e-131	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210202

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211482

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	G	A	3: 32,772,194 (GRCm39)	R164H	probably damaging	Het
Afg3l2	A	G	18: 67,573,269 (GRCm39)	Y178H	probably benign	Het
Agtr1a	A	G	13: 30,566,016 (GRCm39)	*360W	probably null	Het
Arfgef1	A	G	1: 10,209,109 (GRCm39)	V1830A	probably benign	Het
Asic2	A	T	11: 81,858,806 (GRCm39)	S69T	probably benign	Het
Axin1	A	T	17: 26,401,531 (GRCm39)	N368Y	probably damaging	Het
Ces1d	G	A	8: 93,904,756 (GRCm39)	P328L	probably benign	Het
Cndp2	T	A	18: 84,686,203 (GRCm39)	K461*	probably null	Het
Cntnap5c	A	T	17: 58,620,852 (GRCm39)	H977L	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Glg1	T	C	8: 111,896,194 (GRCm39)	T177A	possibly damaging	Het
Gm7168	T	C	17: 14,169,824 (GRCm39)	V397A	probably benign	Het
Hif1a	T	A	12: 73,988,533 (GRCm39)	D535E	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ice1	T	C	13: 70,763,219 (GRCm39)	E173G	possibly damaging	Het
Ighmbp2	A	G	19: 3,329,909 (GRCm39)	V115A	probably damaging	Het
Irf2	A	T	8: 47,271,831 (GRCm39)	E101D	possibly damaging	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kyat1	C	T	2: 30,078,123 (GRCm39)	C127Y	probably damaging	Het
Mrgpra4	T	C	7: 47,630,755 (GRCm39)	H282R	probably benign	Het
Npsr1	C	A	9: 24,225,096 (GRCm39)	P368Q	probably damaging	Het
Nwd1	G	A	8: 73,401,872 (GRCm39)	V839M	probably damaging	Het
Or51a43	T	A	7: 103,717,930 (GRCm39)	M103L	probably damaging	Het
Or6n2	G	T	1: 173,897,436 (GRCm39)	D191Y	probably damaging	Het
P4ha3	A	G	7: 99,955,198 (GRCm39)	D351G	probably benign	Het
Pard3b	T	A	1: 62,479,160 (GRCm39)		probably null	Het
Pgap6	CGGGG	CGGGGG	17: 26,339,536 (GRCm39)		probably null	Het
Pik3c2b	G	T	1: 133,031,574 (GRCm39)	G1505W	probably damaging	Het
Plppr5	A	T	3: 117,414,714 (GRCm39)	I112L	probably benign	Het
Potefam1	T	A	2: 111,034,468 (GRCm39)	T355S	probably benign	Het
Ptprq	A	G	10: 107,522,226 (GRCm39)	I575T	possibly damaging	Het
Ranbp3l	A	G	15: 9,029,656 (GRCm39)	E46G	probably damaging	Het
Rbm46	A	G	3: 82,772,640 (GRCm39)	V164A	possibly damaging	Het
Sap25	A	G	5: 137,639,713 (GRCm39)	E13G	probably benign	Het
Setbp1	A	T	18: 78,899,860 (GRCm39)	V1269E	possibly damaging	Het
Smgc	T	A	15: 91,726,109 (GRCm39)	S18R	possibly damaging	Het
Snrk	T	C	9: 121,993,072 (GRCm39)	I345T	probably benign	Het
Sp4	T	A	12: 118,262,976 (GRCm39)	I357F	possibly damaging	Het
Sra1	A	G	18: 36,808,031 (GRCm39)	L399P	probably damaging	Het
Stat6	A	G	10: 127,494,242 (GRCm39)	T658A	probably benign	Het
Sv2a	G	A	3: 96,092,339 (GRCm39)	R13H	probably benign	Het
Thoc3	G	T	13: 54,608,014 (GRCm39)	T310N	probably damaging	Het
Tox3	A	C	8: 91,074,489 (GRCm39)		probably null	Het
Trpc6	A	G	9: 8,680,550 (GRCm39)	E848G	possibly damaging	Het
Ttn	T	A	2: 76,538,590 (GRCm39)	T34703S	possibly damaging	Het
Ttn	T	C	2: 76,776,312 (GRCm39)	I1577V	probably damaging	Het
Ubqln3	G	A	7: 103,790,674 (GRCm39)	P472L	probably benign	Het
Ugt2b36	C	T	5: 87,240,297 (GRCm39)	W29*	probably null	Het
Wdr17	C	T	8: 55,113,806 (GRCm39)		probably null	Het
Zfp790	C	A	7: 29,529,514 (GRCm39)	S733*	probably null	Het

Other mutations in Brme1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Brme1	APN	8	84,893,400 (GRCm39)	missense	probably damaging	0.99
IGL00964:Brme1	APN	8	84,893,343 (GRCm39)	missense	probably benign	0.07
IGL01826:Brme1	APN	8	84,893,301 (GRCm39)	missense	probably benign	0.03
IGL02445:Brme1	APN	8	84,886,137 (GRCm39)	missense	probably benign	0.13
R0113:Brme1	UTSW	8	84,893,871 (GRCm39)	missense	probably damaging	1.00
R1479:Brme1	UTSW	8	84,889,026 (GRCm39)	missense	possibly damaging	0.59
R1590:Brme1	UTSW	8	84,893,715 (GRCm39)	missense	probably benign	0.28
R3011:Brme1	UTSW	8	84,893,539 (GRCm39)	nonsense	probably null
R4357:Brme1	UTSW	8	84,886,221 (GRCm39)	missense	probably benign	0.25
R5642:Brme1	UTSW	8	84,894,114 (GRCm39)	missense	probably damaging	0.99
R5664:Brme1	UTSW	8	84,893,288 (GRCm39)	missense	probably benign	0.25
R7031:Brme1	UTSW	8	84,893,313 (GRCm39)	missense	possibly damaging	0.83
R7224:Brme1	UTSW	8	84,898,842 (GRCm39)	missense	probably benign
R7303:Brme1	UTSW	8	84,887,862 (GRCm39)	missense	probably benign	0.38
R7459:Brme1	UTSW	8	84,893,981 (GRCm39)	missense	probably benign	0.03
R7618:Brme1	UTSW	8	84,893,499 (GRCm39)	missense	possibly damaging	0.85
R8414:Brme1	UTSW	8	84,893,952 (GRCm39)	missense	probably damaging	0.98
R9252:Brme1	UTSW	8	84,898,878 (GRCm39)	missense	possibly damaging	0.92
RF040:Brme1	UTSW	8	84,894,204 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCAGGTAATGCCCATTATTGG -3'
(R):5'- GCTGTCAATCAAGATTCTAAGTGC -3'

Sequencing Primer
(F):5'- CCATTATTGGGGAGGGTCAAG -3'
(R):5'- TGCACAAACACTGAGGTGG -3'

Posted On

2017-01-03