Mutagenetix > Incidental Mutation

Incidental Mutation 'R1468:Braf'

197709

Institutional Source

Beutler Lab

Gene Symbol

Braf

Ensembl Gene

ENSMUSG00000002413

Gene Name

Braf transforming gene

Synonyms

Braf-2, D6Ertd631e, 9930012E13Rik, Braf2

MMRRC Submission

039521-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1468 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39603237-39725463 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39665083 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 194 (D194G)

Ref Sequence

ENSEMBL: ENSMUSP00000099036 (fasta)

Gene Model

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

AlphaFold

P28028

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002487
AA Change: D195G

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000002487
Gene: ENSMUSG00000002413
AA Change: D195G

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 damaging
Transcript: ENSMUST00000101497
AA Change: D194G

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

SMART Domains

Protein: ENSMUSP00000099036
Gene: ENSMUSG00000002413
AA Change: D194G

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: ENSMUST00000169647

Meta Mutation Damage Score

0.2436

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.6%
20x: 90.1%

Validation Efficiency

98% (106/108)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	G	7: 12,512,580	M1R	probably null	Het
4933440N22Rik	C	A	6: 117,907,579		probably benign	Het
5031439G07Rik	G	T	15: 84,953,144	P280T	probably damaging	Het
Abca2	C	T	2: 25,441,296	S1267L	probably damaging	Het
Acsl3	A	T	1: 78,706,409	R719S	probably benign	Het
Adam1a	A	T	5: 121,519,776		probably null	Het
Adamts7	T	C	9: 90,188,798		probably benign	Het
Adgrf3	G	A	5: 30,202,229		probably benign	Het
Aldh6a1	T	C	12: 84,441,770	E89G	possibly damaging	Het
Ankrd36	A	G	11: 5,575,752	Y238C	probably damaging	Het
Ankrd65	G	A	4: 155,792,905	R291Q	probably benign	Het
Ano2	C	T	6: 125,796,264	R287W	probably damaging	Het
Ap1ar	A	G	3: 127,812,566	I125T	probably benign	Het
Arid1b	A	G	17: 5,242,922	D705G	probably damaging	Het
Asb18	T	A	1: 89,996,283	N86I	probably damaging	Het
Bicral	A	T	17: 46,824,593	S564T	probably benign	Het
Bpifa6	A	G	2: 153,989,272	M253V	probably benign	Het
Brinp3	C	A	1: 146,901,962	P716T	probably benign	Het
C7	T	A	15: 5,012,149	Y425F	probably damaging	Het
Ccdc102a	T	C	8: 94,906,086	K421R	probably benign	Het
Cep89	G	A	7: 35,420,963		probably null	Het
Chgb	A	T	2: 132,792,800	M221L	probably benign	Het
Chst14	A	G	2: 118,927,664	Y313C	probably damaging	Het
Ciita	G	A	16: 10,513,288		probably null	Het
Clec12b	A	T	6: 129,380,640	I85N	probably damaging	Het
Clec2e	G	T	6: 129,093,496	Y187*	probably null	Het
Crbn	T	C	6: 106,790,843	K229E	probably benign	Het
Ctdspl2	A	T	2: 121,981,281	Q201L	probably benign	Het
Ctrb1	G	T	8: 111,689,409		probably benign	Het
Cyp2c55	T	A	19: 39,011,081	V77E	probably damaging	Het
Cyp2c69	A	C	19: 39,849,395	D414E	probably damaging	Het
Ddx47	T	C	6: 135,011,740		probably benign	Het
Dlg1	A	G	16: 31,842,822		probably null	Het
Dnah5	C	A	15: 28,230,463	S169*	probably null	Het
Dock4	C	A	12: 40,755,810	T927K	probably benign	Het
Esrp2	T	G	8: 106,133,821	D259A	probably damaging	Het
Fam169a	A	G	13: 97,118,530	K418R	probably benign	Het
Fam207a	A	G	10: 77,497,526		probably benign	Het
Fancm	A	T	12: 65,099,293	I597F	probably damaging	Het
Fastkd2	G	T	1: 63,732,226		probably benign	Het
Fat1	G	A	8: 45,010,545	V1375M	probably damaging	Het
Fbxw10	A	T	11: 62,862,638	D486V	probably damaging	Het
Fech	C	T	18: 64,470,673		probably benign	Het
Fermt1	C	T	2: 132,925,022	E342K	probably benign	Het
Foxp1	T	A	6: 98,978,220	H195L	possibly damaging	Het
Gfra1	T	A	19: 58,451,975	I138L	probably benign	Het
Gm12185	T	C	11: 48,915,674	D230G	possibly damaging	Het
Gm14403	T	A	2: 177,507,231		probably benign	Het
Gpd2	A	C	2: 57,355,774	T439P	probably damaging	Het
Gpm6a	A	T	8: 55,037,350	K20N	probably damaging	Het
Hc	A	T	2: 34,983,807	Y158*	probably null	Het
Hectd4	A	T	5: 121,349,172	D3410V	possibly damaging	Het
Il17b	G	A	18: 61,690,412		probably null	Het
Irx4	G	T	13: 73,265,576	R55L	possibly damaging	Het
Itgav	A	T	2: 83,765,901		probably benign	Het
Lama3	T	C	18: 12,441,107	V582A	probably benign	Het
Ldhd	G	T	8: 111,627,293	A425E	possibly damaging	Het
Lrp1b	C	T	2: 40,927,829		probably null	Het
Lrp5	T	C	19: 3,620,191	T638A	possibly damaging	Het
Lrrk1	A	C	7: 66,259,974	F1996C	probably damaging	Het
Ly6h	G	A	15: 75,566,137	S21L	probably benign	Het
Mctp1	T	C	13: 76,825,273	V431A	probably benign	Het
Metap2	C	T	10: 93,871,483		probably null	Het
Mfsd2b	T	A	12: 4,870,536	K94*	probably null	Het
Micall2	A	G	5: 139,719,342	L79P	probably damaging	Het
Mucl2	T	C	15: 103,897,407	T95A	possibly damaging	Het
Myo15	A	T	11: 60,506,006	T2634S	probably damaging	Het
Myo5b	G	T	18: 74,740,503	V1467L	probably damaging	Het
Nfic	G	T	10: 81,420,580	D105E	probably damaging	Het
Nrd1	T	A	4: 109,016,668	F227Y	probably benign	Het
Nrp2	A	T	1: 62,738,299	I88F	probably damaging	Het
Nup160	A	T	2: 90,700,543	H515L	probably benign	Het
Nup205	G	A	6: 35,225,982		probably null	Het
Oas1g	G	A	5: 120,882,006	T179I	probably benign	Het
Ogfr	A	T	2: 180,594,750	E376V	probably damaging	Het
Olfr1212	T	G	2: 88,959,043	Y192*	probably null	Het
Olfr1241	A	T	2: 89,482,511	V208D	possibly damaging	Het
Olfr166	T	G	16: 19,487,628	S263R	probably benign	Het
Olfr478	C	T	7: 108,032,388		probably null	Het
Olfr646	G	T	7: 104,106,689	V137F	possibly damaging	Het
Pard3b	T	C	1: 62,345,029	V851A	probably benign	Het
Pcdhb16	A	T	18: 37,478,089	Y34F	probably damaging	Het
Pikfyve	T	C	1: 65,251,666	Y1215H	probably damaging	Het
Pkhd1	A	T	1: 20,523,341	V1516E	probably damaging	Het
Pla2g4a	A	T	1: 149,887,593		probably benign	Het
Ptprg	A	T	14: 12,190,767	I818F	probably benign	Het
Ralgapb	A	G	2: 158,462,253	E644G	possibly damaging	Het
Rbm45	A	G	2: 76,372,115	I127M	probably damaging	Het
Rtp2	T	C	16: 23,927,470	Y157C	probably damaging	Het
Sema3f	A	T	9: 107,687,572		probably benign	Het
Sf3b3	A	T	8: 110,837,374	Y329N	probably damaging	Het
Sfxn1	A	G	13: 54,085,627		probably null	Het
Shkbp1	A	T	7: 27,345,326	C447S	probably damaging	Het
Sipa1l3	A	G	7: 29,322,260	S689P	possibly damaging	Het
Slc7a8	A	G	14: 54,733,199	S332P	probably damaging	Het
Slit1	C	A	19: 41,608,384	C1092F	probably damaging	Het
Stard9	A	G	2: 120,703,197	I619V	possibly damaging	Het
Sycp3	T	C	10: 88,469,592	V185A	possibly damaging	Het
Taar9	A	T	10: 24,109,484	N17K	possibly damaging	Het
Tbkbp1	T	C	11: 97,148,988	E102G	probably damaging	Het
Tex44	A	G	1: 86,427,112	N248D	probably benign	Het
Tmem63b	C	G	17: 45,678,978	R88P	possibly damaging	Het
Tnpo1	C	T	13: 98,850,157	V781I	probably benign	Het
Tonsl	C	T	15: 76,636,561		probably null	Het
Ttc6	A	G	12: 57,674,677	K984R	possibly damaging	Het
Usp34	A	G	11: 23,441,171	E2263G	probably damaging	Het
Usp8	A	G	2: 126,754,927	K875E	probably damaging	Het
Vapb	C	T	2: 173,762,112		probably benign	Het
Vmn1r223	A	G	13: 23,249,868	I211V	possibly damaging	Het
Vmn2r81	G	A	10: 79,293,662	V796I	probably damaging	Het
Wdr90	A	T	17: 25,854,053	V856D	probably damaging	Het
Wnk2	T	A	13: 49,082,095	T615S	probably damaging	Het

Other mutations in Braf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Braf	APN	6	39660999	splice site	probably null
IGL01616:Braf	APN	6	39651652	missense	probably damaging	1.00
IGL01621:Braf	APN	6	39646853	intron	probably benign
IGL01825:Braf	APN	6	39639590	missense	probably damaging	0.99
IGL02435:Braf	APN	6	39646766	missense	probably benign	0.00
IGL02629:Braf	APN	6	39688299	missense	possibly damaging	0.83
IGL02751:Braf	APN	6	39660867	splice site	probably benign
IGL02829:Braf	APN	6	39627728	missense	possibly damaging	0.62
R0041:Braf	UTSW	6	39640479	missense	probably damaging	1.00
R0041:Braf	UTSW	6	39640479	missense	probably damaging	1.00
R0497:Braf	UTSW	6	39640549	splice site	probably benign
R0512:Braf	UTSW	6	39664989	splice site	probably benign
R0604:Braf	UTSW	6	39623697	missense	probably damaging	1.00
R0726:Braf	UTSW	6	39662148	missense	possibly damaging	0.90
R1468:Braf	UTSW	6	39665083	missense	probably damaging	1.00
R1616:Braf	UTSW	6	39643133	missense	probably benign	0.35
R2160:Braf	UTSW	6	39662073	missense	probably damaging	1.00
R3722:Braf	UTSW	6	39623676	missense	probably damaging	1.00
R4407:Braf	UTSW	6	39615720	missense	probably damaging	1.00
R4540:Braf	UTSW	6	39644333	missense	probably damaging	1.00
R5026:Braf	UTSW	6	39688287	missense	probably benign	0.22
R5478:Braf	UTSW	6	39677574	missense	possibly damaging	0.94
R6284:Braf	UTSW	6	39688282	missense	possibly damaging	0.73
R6993:Braf	UTSW	6	39643163	missense	probably damaging	1.00
R7251:Braf	UTSW	6	39677570	critical splice donor site	probably null
R7385:Braf	UTSW	6	39665108	critical splice acceptor site	probably null
R7483:Braf	UTSW	6	39627838	missense	possibly damaging	0.86
R7511:Braf	UTSW	6	39688253	missense	probably damaging	0.99
R7660:Braf	UTSW	6	39623641	missense	possibly damaging	0.48
R8323:Braf	UTSW	6	39643124	missense	possibly damaging	0.83
R8527:Braf	UTSW	6	39627759	missense	probably benign	0.37
R8542:Braf	UTSW	6	39627759	missense	probably benign	0.37
R8993:Braf	UTSW	6	39662151	missense	probably damaging	0.99
R9573:Braf	UTSW	6	39623610	missense	probably damaging	1.00
R9689:Braf	UTSW	6	39614150	missense	probably damaging	0.99
Z1088:Braf	UTSW	6	39662026	missense	probably damaging	1.00
Z1176:Braf	UTSW	6	39643182	missense	probably damaging	1.00
Z1186:Braf	UTSW	6	39725253	missense	unknown
Z1186:Braf	UTSW	6	39725255	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCAAGTACGCTGTGCTCACTG -3'
(R):5'- AAACCCCAGGAACAATTTGGTTTTGAC -3'

Sequencing Primer
(F):5'- AGAGAACTATCCTGTTACCTGC -3'
(R):5'- CAGGAACAATTTGGTTTTGACTGTTG -3'

Posted On

2014-05-23