Mutagenetix > Incidental Mutation

Incidental Mutation 'R5026:Braf'

391344

Institutional Source

Beutler Lab

Gene Symbol

Braf

Ensembl Gene

ENSMUSG00000002413

Gene Name

Braf transforming gene

Synonyms

D6Ertd631e, 9930012E13Rik, Braf2, Braf-2

MMRRC Submission

042617-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5026 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39580171-39702397 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39665221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 49 (D49G)

Ref Sequence

ENSEMBL: ENSMUSP00000099036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002487] [ENSMUST00000101497]

AlphaFold

P28028

Predicted Effect

probably benign
Transcript: ENSMUST00000002487
AA Change: D83G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000002487
Gene: ENSMUSG00000002413
AA Change: D83G

Domain	Start	End	E-Value	Type
low complexity region	5	30	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
coiled coil region	94	121	N/A	INTRINSIC
RBD	139	211	1.04e-33	SMART
C1	219	264	1.05e-13	SMART
low complexity region	297	311	N/A	INTRINSIC
low complexity region	316	326	N/A	INTRINSIC
low complexity region	459	474	N/A	INTRINSIC
Pfam:Pkinase_Tyr	494	751	9.6e-65	PFAM
Pfam:Pkinase	494	753	5.1e-60	PFAM
Pfam:Kinase-like	573	741	3e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101497
AA Change: D49G

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099036
Gene: ENSMUSG00000002413
AA Change: D49G

Domain	Start	End	E-Value	Type
low complexity region	12	22	N/A	INTRINSIC
coiled coil region	60	88	N/A	INTRINSIC
low complexity region	93	120	N/A	INTRINSIC
RBD	138	210	1.04e-33	SMART
C1	218	263	1.05e-13	SMART
low complexity region	296	310	N/A	INTRINSIC
low complexity region	315	325	N/A	INTRINSIC
low complexity region	406	421	N/A	INTRINSIC
Pfam:Pkinase	441	698	8.2e-62	PFAM
Pfam:Pkinase_Tyr	441	698	1.5e-65	PFAM
Pfam:Kinase-like	523	688	3.2e-11	PFAM

Meta Mutation Damage Score

0.0592

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 90.7%

Validation Efficiency

96% (88/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos die during organogenesis, are smaller, have enlarged blood vessels, hemorrhaging, poor circulation, slow heartbeat and abnormal endothelial cell development. Mice homozygous for a targeted allele activated in neurons exhibit impaired neuronal differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,356,383 (GRCm39)	N608S	probably benign	Het
Actg1	T	C	11: 120,237,784 (GRCm39)	N7S	probably damaging	Het
Adamtsl3	T	A	7: 82,225,262 (GRCm39)	L357Q	probably benign	Het
Ahnak	A	T	19: 8,987,995 (GRCm39)	Q3093L	possibly damaging	Het
Ankrd16	T	A	2: 11,794,692 (GRCm39)	V359E	probably benign	Het
Ankrd40	T	C	11: 94,230,550 (GRCm39)		probably benign	Het
Ano10	G	A	9: 122,101,625 (GRCm39)	Q49*	probably null	Het
Aoah	A	T	13: 21,099,129 (GRCm39)	D236V	probably damaging	Het
Bin1	T	C	18: 32,552,983 (GRCm39)		probably null	Het
Brsk1	A	T	7: 4,707,265 (GRCm39)	R273W	probably damaging	Het
C2cd3	T	A	7: 100,109,049 (GRCm39)	M2259K	possibly damaging	Het
Cabp1	T	C	5: 115,313,531 (GRCm39)	N43D	possibly damaging	Het
Ccar2	T	A	14: 70,379,951 (GRCm39)	Q412L	possibly damaging	Het
Cd4	T	C	6: 124,843,583 (GRCm39)	T443A	possibly damaging	Het
Cdh23	T	A	10: 60,140,627 (GRCm39)	I3206F	possibly damaging	Het
Ceacam9	A	T	7: 16,459,122 (GRCm39)		probably null	Het
Chid1	T	C	7: 141,093,749 (GRCm39)	D289G	probably damaging	Het
Chmp6	T	A	11: 119,809,469 (GRCm39)	L196Q	probably damaging	Het
Cog8	A	G	8: 107,775,757 (GRCm39)	S536P	probably benign	Het
Dmxl2	A	T	9: 54,323,960 (GRCm39)	S1141R	probably damaging	Het
Dnah7a	T	G	1: 53,701,657 (GRCm39)	Y166S	probably damaging	Het
Dnah7b	G	T	1: 46,226,523 (GRCm39)	W1318L	probably damaging	Het
Ecd	A	G	14: 20,387,098 (GRCm39)	F212S	probably damaging	Het
Entpd6	A	T	2: 150,605,564 (GRCm39)	S265C	probably damaging	Het
Epb41l2	A	G	10: 25,360,206 (GRCm39)	T523A	possibly damaging	Het
Focad	T	C	4: 88,262,819 (GRCm39)	S939P	unknown	Het
Gjb3	A	T	4: 127,220,280 (GRCm39)	V84D	probably damaging	Het
Gm572	A	T	4: 148,739,301 (GRCm39)	E43V	possibly damaging	Het
Gm6185	T	A	1: 161,052,178 (GRCm39)		noncoding transcript	Het
Gria1	T	A	11: 57,201,522 (GRCm39)	C787S	probably damaging	Het
Grpel2	A	G	18: 61,849,024 (GRCm39)	L162P	probably damaging	Het
Herc1	A	G	9: 66,393,408 (GRCm39)	T4096A	probably benign	Het
Hook3	A	T	8: 26,600,785 (GRCm39)	M41K	probably damaging	Het
Ifit1bl1	T	C	19: 34,571,293 (GRCm39)	Y388C	probably damaging	Het
Ighv3-4	A	G	12: 114,217,382 (GRCm39)	Y70H	probably benign	Het
Itm2c	T	C	1: 85,834,213 (GRCm39)	L176P	probably damaging	Het
Lmtk3	G	A	7: 45,443,836 (GRCm39)		probably benign	Het
Macf1	G	A	4: 123,333,287 (GRCm39)	T2376I	possibly damaging	Het
Map1a	T	G	2: 121,138,019 (GRCm39)	S2660A	possibly damaging	Het
Mmrn2	A	G	14: 34,121,158 (GRCm39)	H676R	probably benign	Het
Nbeal1	A	T	1: 60,276,338 (GRCm39)	K693M	probably damaging	Het
Ndufa13	T	A	8: 70,347,920 (GRCm39)	R49*	probably null	Het
Neb	T	A	2: 52,094,892 (GRCm39)	T1115S	possibly damaging	Het
Nvl	C	T	1: 180,932,720 (GRCm39)	R699H	probably damaging	Het
Or10w1	A	G	19: 13,632,296 (GRCm39)	I163V	probably benign	Het
Or5d47	A	T	2: 87,804,364 (GRCm39)	I215N	probably damaging	Het
Or8b53	A	G	9: 38,667,041 (GRCm39)	D19G	probably benign	Het
Or8d2b	A	T	9: 38,789,195 (GRCm39)	H241L	possibly damaging	Het
Piezo1	G	T	8: 123,213,557 (GRCm39)	D1779E	probably benign	Het
Prl8a9	A	G	13: 27,745,560 (GRCm39)	S77P	probably damaging	Het
Prune2	A	T	19: 17,176,506 (GRCm39)	I2904F	probably damaging	Het
Retreg1	T	A	15: 25,970,214 (GRCm39)	S151T	probably damaging	Het
Rnf213	A	G	11: 119,327,590 (GRCm39)	D1859G	probably damaging	Het
Rnf39	T	C	17: 37,256,426 (GRCm39)	F173L	probably benign	Het
Rspry1	T	A	8: 95,376,931 (GRCm39)	N371K	probably damaging	Het
Samd9l	T	A	6: 3,375,284 (GRCm39)	D659V	possibly damaging	Het
Sez6	T	A	11: 77,859,815 (GRCm39)	F378Y	probably damaging	Het
Slc22a19	G	A	19: 7,651,737 (GRCm39)	T490M	probably benign	Het
Slit2	A	T	5: 48,414,147 (GRCm39)	N917I	probably damaging	Het
Smg1	T	A	7: 117,792,768 (GRCm39)		probably benign	Het
Tes	T	C	6: 17,096,339 (GRCm39)	V24A	probably benign	Het
Tial1	C	T	7: 128,050,120 (GRCm39)	E82K	probably damaging	Het
Tmem94	G	A	11: 115,683,930 (GRCm39)	C750Y	probably damaging	Het
Tmppe	T	A	9: 114,234,887 (GRCm39)	N395K	possibly damaging	Het
Tnn	T	C	1: 159,973,707 (GRCm39)	H220R	probably benign	Het
Trappc10	T	C	10: 78,040,122 (GRCm39)	T610A	possibly damaging	Het
Trmt1l	T	A	1: 151,316,627 (GRCm39)	M196K	probably damaging	Het
Trpv4	T	C	5: 114,760,715 (GRCm39)	*872W	probably null	Het
Ttn	T	C	2: 76,579,353 (GRCm39)	T23847A	probably benign	Het
Ube4b	T	A	4: 149,445,022 (GRCm39)	L440F	probably damaging	Het
Ugt1a5	C	G	1: 88,093,963 (GRCm39)	R64G	probably benign	Het
Unc13c	T	A	9: 73,838,185 (GRCm39)	T889S	possibly damaging	Het
Vmn1r215	C	T	13: 23,260,449 (GRCm39)	T163I	probably benign	Het
Vmn2r16	T	A	5: 109,508,722 (GRCm39)	Y483*	probably null	Het
Wdr47	T	A	3: 108,525,838 (GRCm39)	C120*	probably null	Het
Zc3h6	G	A	2: 128,859,229 (GRCm39)	V1087I	probably benign	Het
Zfp423	T	C	8: 88,507,302 (GRCm39)	H889R	probably damaging	Het
Zfp825	G	T	13: 74,629,196 (GRCm39)	H107N	probably benign	Het
Zfp945	T	C	17: 23,069,859 (GRCm39)	H680R	probably damaging	Het

Other mutations in Braf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Braf	APN	6	39,637,933 (GRCm39)	splice site	probably null
IGL01616:Braf	APN	6	39,628,586 (GRCm39)	missense	probably damaging	1.00
IGL01621:Braf	APN	6	39,623,787 (GRCm39)	intron	probably benign
IGL01825:Braf	APN	6	39,616,524 (GRCm39)	missense	probably damaging	0.99
IGL02435:Braf	APN	6	39,623,700 (GRCm39)	missense	probably benign	0.00
IGL02629:Braf	APN	6	39,665,233 (GRCm39)	missense	possibly damaging	0.83
IGL02751:Braf	APN	6	39,637,801 (GRCm39)	splice site	probably benign
IGL02829:Braf	APN	6	39,604,662 (GRCm39)	missense	possibly damaging	0.62
R0041:Braf	UTSW	6	39,617,413 (GRCm39)	missense	probably damaging	1.00
R0041:Braf	UTSW	6	39,617,413 (GRCm39)	missense	probably damaging	1.00
R0497:Braf	UTSW	6	39,617,483 (GRCm39)	splice site	probably benign
R0512:Braf	UTSW	6	39,641,923 (GRCm39)	splice site	probably benign
R0604:Braf	UTSW	6	39,600,631 (GRCm39)	missense	probably damaging	1.00
R0726:Braf	UTSW	6	39,639,082 (GRCm39)	missense	possibly damaging	0.90
R1468:Braf	UTSW	6	39,642,017 (GRCm39)	missense	probably damaging	1.00
R1468:Braf	UTSW	6	39,642,017 (GRCm39)	missense	probably damaging	1.00
R1616:Braf	UTSW	6	39,620,067 (GRCm39)	missense	probably benign	0.35
R2160:Braf	UTSW	6	39,639,007 (GRCm39)	missense	probably damaging	1.00
R3722:Braf	UTSW	6	39,600,610 (GRCm39)	missense	probably damaging	1.00
R4407:Braf	UTSW	6	39,592,654 (GRCm39)	missense	probably damaging	1.00
R4540:Braf	UTSW	6	39,621,267 (GRCm39)	missense	probably damaging	1.00
R5478:Braf	UTSW	6	39,654,508 (GRCm39)	missense	possibly damaging	0.94
R6284:Braf	UTSW	6	39,665,216 (GRCm39)	missense	possibly damaging	0.73
R6993:Braf	UTSW	6	39,620,097 (GRCm39)	missense	probably damaging	1.00
R7251:Braf	UTSW	6	39,654,504 (GRCm39)	critical splice donor site	probably null
R7385:Braf	UTSW	6	39,642,042 (GRCm39)	critical splice acceptor site	probably null
R7483:Braf	UTSW	6	39,604,772 (GRCm39)	missense	possibly damaging	0.86
R7511:Braf	UTSW	6	39,665,187 (GRCm39)	missense	probably damaging	0.99
R7660:Braf	UTSW	6	39,600,575 (GRCm39)	missense	possibly damaging	0.48
R8323:Braf	UTSW	6	39,620,058 (GRCm39)	missense	possibly damaging	0.83
R8527:Braf	UTSW	6	39,604,693 (GRCm39)	missense	probably benign	0.37
R8542:Braf	UTSW	6	39,604,693 (GRCm39)	missense	probably benign	0.37
R8993:Braf	UTSW	6	39,639,085 (GRCm39)	missense	probably damaging	0.99
R9573:Braf	UTSW	6	39,600,544 (GRCm39)	missense	probably damaging	1.00
R9689:Braf	UTSW	6	39,591,084 (GRCm39)	missense	probably damaging	0.99
Z1088:Braf	UTSW	6	39,638,960 (GRCm39)	missense	probably damaging	1.00
Z1176:Braf	UTSW	6	39,620,116 (GRCm39)	missense	probably damaging	1.00
Z1186:Braf	UTSW	6	39,702,189 (GRCm39)	missense	unknown
Z1186:Braf	UTSW	6	39,702,187 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGAGACATTCCTCTCAGTTTTGAC -3'
(R):5'- TTGTCTAAAGCCCCGAGAAC -3'

Sequencing Primer
(F):5'- CAGATTGCAACAAGTGAATGAAAAC -3'
(R):5'- CCGAGAACACTGGCAGTTACTG -3'

Posted On

2016-06-06