Mutagenetix > Incidental Mutation

Incidental Mutation 'R0497:Braf'

40525

Institutional Source

Beutler Lab

Gene Symbol

Braf

Ensembl Gene

ENSMUSG00000002413

Gene Name

Braf transforming gene

Synonyms

D6Ertd631e, 9930012E13Rik, Braf2, Braf-2

MMRRC Submission

038693-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0497 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39580171-39702397 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 39617483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099036 (fasta)

Gene Model

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

AlphaFold

P28028

Predicted Effect

probably benign
Transcript: ENSMUST00000002487

SMART Domains

Protein: ENSMUSP00000002487
Gene: ENSMUSG00000002413

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

SMART Domains

Protein: ENSMUSP00000099036
Gene: ENSMUSG00000002413

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167169

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (68/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	C	11: 119,909,606 (GRCm39)	V110G	probably damaging	Het
Adcy6	A	C	15: 98,495,606 (GRCm39)		probably null	Het
Adm	A	G	7: 110,228,328 (GRCm39)	T170A	probably benign	Het
Afap1l2	G	T	19: 56,918,641 (GRCm39)	N171K	probably benign	Het
Aph1b	G	T	9: 66,697,900 (GRCm39)	S112*	probably null	Het
Arhgap23	A	G	11: 97,342,989 (GRCm39)	S424G	probably damaging	Het
Asah2	T	A	19: 32,032,031 (GRCm39)	N46I	probably benign	Het
Brd2	C	T	17: 34,333,334 (GRCm39)	R47Q	probably damaging	Het
C2cd5	A	G	6: 142,957,819 (GRCm39)	V972A	probably benign	Het
Car9	T	A	4: 43,511,881 (GRCm39)	L300H	probably damaging	Het
Chmp3	T	C	6: 71,529,395 (GRCm39)	S20P	probably damaging	Het
Chp1	A	G	2: 119,402,263 (GRCm39)	N79S	possibly damaging	Het
Cnot2	A	T	10: 116,334,260 (GRCm39)	I335N	probably damaging	Het
Cntnap4	T	C	8: 113,296,783 (GRCm39)	V6A	probably benign	Het
Ctcf	T	A	8: 106,401,672 (GRCm39)		probably benign	Het
Dennd1b	A	G	1: 138,967,724 (GRCm39)		probably benign	Het
Dnmbp	A	G	19: 43,845,079 (GRCm39)		probably benign	Het
Eef2	T	C	10: 81,017,420 (GRCm39)	F782L	probably benign	Het
Eogt	T	A	6: 97,112,194 (GRCm39)	Y153F	probably benign	Het
Fam81a	G	T	9: 70,003,401 (GRCm39)	Q237K	possibly damaging	Het
Fat2	T	A	11: 55,174,228 (GRCm39)	T2162S	probably benign	Het
Fcgbpl1	T	A	7: 27,846,890 (GRCm39)	C1158S	probably damaging	Het
Gas6	T	C	8: 13,520,387 (GRCm39)	I434V	possibly damaging	Het
Gm42417	A	T	1: 36,571,248 (GRCm39)	L77Q	probably damaging	Het
Grik3	A	T	4: 125,517,303 (GRCm39)	N49Y	possibly damaging	Het
Gucy2e	A	T	11: 69,114,985 (GRCm39)	V974E	probably damaging	Het
Helz2	A	G	2: 180,871,449 (GRCm39)	V2721A	probably damaging	Het
Klhl6	GT	G	16: 19,775,716 (GRCm39)	279	probably null	Het
Krt73	A	G	15: 101,710,665 (GRCm39)	L23P	probably damaging	Het
L3mbtl3	T	C	10: 26,158,772 (GRCm39)		probably benign	Het
Lrrc15	A	T	16: 30,091,710 (GRCm39)	V543E	probably damaging	Het
Med13	G	A	11: 86,167,809 (GRCm39)		probably benign	Het
Med25	T	C	7: 44,541,524 (GRCm39)	D60G	probably damaging	Het
Mgam	T	A	6: 40,641,826 (GRCm39)	Y560N	probably damaging	Het
Mlkl	A	G	8: 112,054,505 (GRCm39)	Y211H	probably damaging	Het
Msl2	A	G	9: 100,978,493 (GRCm39)	N289S	probably benign	Het
Nwd2	G	T	5: 63,963,686 (GRCm39)	W1090L	probably damaging	Het
Omt2b	T	C	9: 78,235,513 (GRCm39)		probably benign	Het
Or4k37	A	G	2: 111,159,175 (GRCm39)	D137G	probably benign	Het
Pald1	A	G	10: 61,177,094 (GRCm39)	L652P	probably damaging	Het
Pard3b	T	A	1: 62,479,167 (GRCm39)		probably null	Het
Prdm15	G	A	16: 97,595,534 (GRCm39)	T1098I	possibly damaging	Het
Rock2	A	G	12: 17,004,954 (GRCm39)	T436A	probably benign	Het
Sema4c	A	T	1: 36,588,689 (GRCm39)	D812E	probably benign	Het
Sla	A	T	15: 66,664,098 (GRCm39)	I91K	probably benign	Het
Slc22a16	T	G	10: 40,460,963 (GRCm39)	M255R	probably damaging	Het
Slc49a4	A	T	16: 35,555,974 (GRCm39)	V162D	probably benign	Het
Smg8	C	T	11: 86,976,910 (GRCm39)	D224N	possibly damaging	Het
Spdef	A	T	17: 27,937,032 (GRCm39)	D190E	probably benign	Het
Taok1	A	G	11: 77,464,630 (GRCm39)	I152T	probably damaging	Het
Tmem220	A	G	11: 66,916,748 (GRCm39)	D36G	probably damaging	Het
Tmem235	A	C	11: 117,755,177 (GRCm39)	I210L	probably benign	Het
Tmem266	C	T	9: 55,288,168 (GRCm39)		probably null	Het
Tmprss12	A	G	15: 100,178,920 (GRCm39)		probably benign	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Usp38	T	A	8: 81,711,053 (GRCm39)		probably benign	Het
Usp44	C	T	10: 93,682,668 (GRCm39)	P373S	possibly damaging	Het
Vmn1r209	G	T	13: 22,990,118 (GRCm39)	Q191K	probably damaging	Het
Vmn1r70	T	C	7: 10,367,953 (GRCm39)	I147T	probably benign	Het
Vmn2r107	T	A	17: 20,595,394 (GRCm39)	I649N	probably damaging	Het
Vmn2r12	A	T	5: 109,239,755 (GRCm39)	Y269*	probably null	Het
Zan	C	T	5: 137,410,938 (GRCm39)		probably benign	Het
Zfp616	G	T	11: 73,974,306 (GRCm39)	V192L	probably benign	Het
Zfp644	A	T	5: 106,786,199 (GRCm39)	V116D	probably damaging	Het
Zgrf1	T	C	3: 127,378,299 (GRCm39)		probably benign	Het
Zhx3	A	T	2: 160,621,914 (GRCm39)	L751*	probably null	Het
Znfx1	T	A	2: 166,897,331 (GRCm39)	Q531L	probably benign	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
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
R5026:Braf	UTSW	6	39,665,221 (GRCm39)	missense	probably benign	0.22
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'- TGGGAACGTGAAGTCTAAGCAGCC -3'
(R):5'- TCGAGCACTCACTGACCAGGTAAC -3'

Sequencing Primer
(F):5'- GTCTAAGCAGCCACACTTTG -3'
(R):5'- ACCTAAGTGTATTCCCAGGGTG -3'

Posted On

2013-05-23