Mutagenetix > Incidental Mutation

Incidental Mutation 'R7251:Braf'

563919

Institutional Source

Beutler Lab

Gene Symbol

Braf

Ensembl Gene

ENSMUSG00000002413

Gene Name

Braf transforming gene

Synonyms

D6Ertd631e, 9930012E13Rik, Braf2, Braf-2

MMRRC Submission

045313-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7251 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39580171-39702397 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 39654504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000002487 (fasta)

Gene Model

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

AlphaFold

P28028

Predicted Effect

probably null
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

silent
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (66/68)

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
4930480E11Rik	G	T	X: 77,414,311 (GRCm39)	M345I	probably benign	Het
Adamts19	A	T	18: 58,970,974 (GRCm39)	D186V	probably damaging	Het
Agrn	T	C	4: 156,259,063 (GRCm39)	D884G	probably damaging	Het
Akr1c6	T	A	13: 4,497,019 (GRCm39)	C154S	probably damaging	Het
Apob	T	C	12: 8,057,037 (GRCm39)	Y1840H	probably damaging	Het
Arfgef1	T	C	1: 10,269,200 (GRCm39)	E399G	possibly damaging	Het
Arg2	G	A	12: 79,197,572 (GRCm39)	G197S	probably damaging	Het
Arhgap32	T	C	9: 32,119,481 (GRCm39)	V308A	probably damaging	Het
Atcay	A	T	10: 81,046,366 (GRCm39)	C319*	probably null	Het
Bend4	C	G	5: 67,584,876 (GRCm39)	R16P	unknown	Het
Camsap1	T	C	2: 25,828,898 (GRCm39)	E942G	probably damaging	Het
Cdpf1	C	T	15: 85,693,494 (GRCm39)	G11D	probably damaging	Het
Cgn	T	C	3: 94,683,509 (GRCm39)	E382G	possibly damaging	Het
Cndp1	T	A	18: 84,640,322 (GRCm39)	E294D	probably benign	Het
Cnn1	T	A	9: 22,019,513 (GRCm39)	Y294N	unknown	Het
Cyp2ab1	A	G	16: 20,134,646 (GRCm39)	F104S	possibly damaging	Het
Cyp2t4	G	A	7: 26,857,144 (GRCm39)	V336M	possibly damaging	Het
D430041D05Rik	T	A	2: 104,051,511 (GRCm39)	D782V	probably damaging	Het
Ddx39b	A	G	17: 35,472,464 (GRCm39)	*429W	probably null	Het
Dgkb	T	C	12: 38,031,985 (GRCm39)	S16P	possibly damaging	Het
Dll4	T	C	2: 119,162,773 (GRCm39)	C465R	probably damaging	Het
Dsp	A	G	13: 38,377,524 (GRCm39)	I1770V	probably benign	Het
Fbxw11	A	G	11: 32,681,370 (GRCm39)	N250S	probably benign	Het
Fsip2	G	A	2: 82,809,425 (GRCm39)	V1915M	possibly damaging	Het
Greb1l	G	A	18: 10,515,319 (GRCm39)	V704M	probably damaging	Het
Hgf	T	A	5: 16,798,942 (GRCm39)	N323K	possibly damaging	Het
Hhatl	A	T	9: 121,614,116 (GRCm39)		probably null	Het
Hip1r	T	C	5: 124,132,813 (GRCm39)	S204P	probably damaging	Het
Igsf10	T	A	3: 59,226,875 (GRCm39)	N2266I	probably damaging	Het
Krtap15-1	A	G	16: 88,625,982 (GRCm39)		probably null	Het
Lrp1	T	C	10: 127,408,423 (GRCm39)	D1751G	probably damaging	Het
Madd	A	T	2: 90,992,521 (GRCm39)	D1050E	probably benign	Het
Man1c1	C	T	4: 134,308,147 (GRCm39)	G323R	probably damaging	Het
Mgll	A	G	6: 88,800,357 (GRCm39)	E252G	probably benign	Het
Muc2	A	G	7: 141,278,965 (GRCm39)	N145S	possibly damaging	Het
Ncoa2	C	T	1: 13,218,599 (GRCm39)	S1410N	probably benign	Het
Nek10	A	G	14: 14,853,965 (GRCm38)	T384A	probably benign	Het
Nexn	T	C	3: 151,952,832 (GRCm39)	E310G	probably damaging	Het
Nol10	T	C	12: 17,452,108 (GRCm39)	L354P	probably damaging	Het
Npy4r	T	C	14: 33,868,872 (GRCm39)	R139G	probably damaging	Het
Nup160	A	G	2: 90,530,518 (GRCm39)	E463G	probably damaging	Het
Or14c44	T	C	7: 86,062,209 (GRCm39)	V213A	probably benign	Het
Or52a33	C	T	7: 103,288,909 (GRCm39)	G146D	probably damaging	Het
Or8j3c	G	A	2: 86,253,940 (GRCm39)	L27F	probably benign	Het
Pdzd8	A	T	19: 59,289,077 (GRCm39)	N774K	possibly damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pot1a	T	C	6: 25,752,497 (GRCm39)		probably null	Het
Ppip5k1	T	A	2: 121,178,052 (GRCm39)	E283D	probably benign	Het
Ptpn2	A	C	18: 67,808,862 (GRCm39)	I318R	possibly damaging	Het
Raph1	A	G	1: 60,529,027 (GRCm39)	F745L	unknown	Het
Rgs19	C	T	2: 181,331,541 (GRCm39)	V88I	probably benign	Het
Ripk4	A	G	16: 97,544,449 (GRCm39)	S733P	probably benign	Het
Rprd1b	T	A	2: 157,870,899 (GRCm39)	W29R	probably damaging	Het
Rtkn	A	G	6: 83,112,943 (GRCm39)	N5S	probably damaging	Het
Sh3bp5l	A	T	11: 58,232,128 (GRCm39)	Q131L	probably damaging	Het
Slain2	T	A	5: 73,131,891 (GRCm39)	F461I	possibly damaging	Het
Stk24	A	T	14: 121,545,434 (GRCm39)	L108Q	probably damaging	Het
Syne3	TC	T	12: 104,927,830 (GRCm39)		probably null	Het
Tapbpl	A	T	6: 125,203,558 (GRCm39)	V374E	probably damaging	Het
Tax1bp1	A	G	6: 52,698,341 (GRCm39)	I18V	possibly damaging	Het
Tecta	T	A	9: 42,299,048 (GRCm39)	I233F	probably damaging	Het
Tet3	A	G	6: 83,381,038 (GRCm39)	S377P	probably benign	Het
Uty	A	G	Y: 1,154,262 (GRCm39)	S721P	probably benign	Het
Wnk4	C	A	11: 101,155,979 (GRCm39)	T412K	possibly damaging	Het
Zdhhc11	G	T	13: 74,140,216 (GRCm39)	V336L	probably benign	Het
Zfp605	T	A	5: 110,275,826 (GRCm39)	S315T	probably damaging	Het
Zfp746	A	G	6: 48,041,811 (GRCm39)	L305P	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
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
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'- AAATACTGACTTACCACTGTCCTCTG -3'
(R):5'- AAACTTCTTTTCCTGGGCTGG -3'

Sequencing Primer
(F):5'- GTTTGTTGGGCAGGAAGACTCTAAC -3'
(R):5'- GGTTCCACTCCCTGTTAGCAG -3'

Posted On

2019-06-26