Mutagenetix > Incidental Mutation

Incidental Mutation 'R8323:Braf'

643916

Institutional Source

Beutler Lab

Gene Symbol

Braf

Ensembl Gene

ENSMUSG00000002413

Gene Name

Braf transforming gene

Synonyms

D6Ertd631e, 9930012E13Rik, Braf2, Braf-2

MMRRC Submission

067724-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8323 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39580171-39702397 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39620058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 507 (T507A)

Ref Sequence

ENSEMBL: ENSMUSP00000002487 (fasta)

Gene Model

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

AlphaFold

P28028

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002487
AA Change: T507A

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000002487
Gene: ENSMUSG00000002413
AA Change: T507A

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: T454A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099036
Gene: ENSMUSG00000002413
AA Change: T454A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

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
A3galt2	T	C	4: 128,649,351 (GRCm39)	F6S	probably benign	Het
Catsperb	A	C	12: 101,375,658 (GRCm39)	H24P	probably benign	Het
Ccdc57	G	T	11: 120,788,750 (GRCm39)	Q366K	possibly damaging	Het
Cep295	G	T	9: 15,249,529 (GRCm39)	T462K	possibly damaging	Het
Cep295	T	A	9: 15,264,357 (GRCm39)	R96S	probably damaging	Het
Cfap206	C	T	4: 34,719,647 (GRCm39)	E256K	probably benign	Het
Cfap251	A	G	5: 123,435,588 (GRCm39)	N1016S	probably benign	Het
Cldn13	A	G	5: 134,943,828 (GRCm39)	V119A	probably benign	Het
Csmd1	G	T	8: 17,266,751 (GRCm39)	C58*	probably null	Het
Csmd3	T	C	15: 47,561,547 (GRCm39)	Y1343C		Het
Dcbld2	T	A	16: 58,283,473 (GRCm39)		probably null	Het
Dnah14	A	G	1: 181,532,109 (GRCm39)	I2299V	probably benign	Het
Dsp	C	T	13: 38,356,806 (GRCm39)	H229Y	possibly damaging	Het
Fam193b	A	T	13: 55,702,223 (GRCm39)	C51*	probably null	Het
Fbxw10	G	A	11: 62,767,506 (GRCm39)	V781I	probably benign	Het
Fdps	G	T	3: 89,002,696 (GRCm39)	P151T	possibly damaging	Het
Galk2	C	T	2: 125,708,298 (GRCm39)	H16Y	probably benign	Het
Gm1110	A	G	9: 26,813,719 (GRCm39)		probably null	Het
Gm3727	C	T	14: 7,261,693 (GRCm38)	V204I	probably benign	Het
Gtf2h3	A	G	5: 124,720,534 (GRCm39)	I13V	probably benign	Het
H2-T24	T	A	17: 36,328,431 (GRCm39)		probably null	Het
Heatr5a	C	T	12: 52,002,289 (GRCm39)	V216M	probably benign	Het
Hspg2	C	G	4: 137,246,290 (GRCm39)	P1023A	possibly damaging	Het
Igfbp2	C	T	1: 72,888,780 (GRCm39)	P224S	probably damaging	Het
Igkv17-127	A	G	6: 67,838,498 (GRCm39)	I70V	possibly damaging	Het
Kif11	T	A	19: 37,372,692 (GRCm39)	F27I	possibly damaging	Het
Lcor	T	C	19: 41,572,036 (GRCm39)	S264P	probably benign	Het
Lrrc28	G	T	7: 67,245,455 (GRCm39)	T137K	unknown	Het
Lyg1	T	A	1: 37,989,018 (GRCm39)	R67S	probably damaging	Het
Ms4a10	G	A	19: 10,940,363 (GRCm39)	Q255*	probably null	Het
Myo1h	A	G	5: 114,480,200 (GRCm39)	R512G		Het
Nmnat3	T	C	9: 98,292,276 (GRCm39)	Y174H	probably damaging	Het
Nrap	T	C	19: 56,378,255 (GRCm39)	I19V	probably benign	Het
Nsf	C	A	11: 103,819,665 (GRCm39)	V35L	probably benign	Het
Or1e30	A	T	11: 73,677,766 (GRCm39)	M1L	probably damaging	Het
Or2w6	T	A	13: 21,843,302 (GRCm39)	M64L	possibly damaging	Het
Osbpl9	A	G	4: 108,965,119 (GRCm39)	S116P	probably benign	Het
Pcdhb15	A	C	18: 37,608,715 (GRCm39)	E649A	probably benign	Het
Pcdhb8	T	A	18: 37,488,476 (GRCm39)	D51E	probably benign	Het
Plcl1	T	A	1: 55,736,895 (GRCm39)	D745E	possibly damaging	Het
Prss3	A	G	6: 41,351,258 (GRCm39)	L165P	probably damaging	Het
Psme4	T	A	11: 30,793,532 (GRCm39)	I1211N	probably damaging	Het
Rb1	A	G	14: 73,503,023 (GRCm39)	V416A	probably benign	Het
Rnf111	T	A	9: 70,383,204 (GRCm39)	Q243L	probably benign	Het
Sacm1l	T	C	9: 123,377,987 (GRCm39)	V89A	probably benign	Het
Sardh	C	T	2: 27,125,576 (GRCm39)	D313N	probably damaging	Het
Scin	T	C	12: 40,129,681 (GRCm39)	I371V	probably benign	Het
Scn10a	C	A	9: 119,438,462 (GRCm39)	L1801F	possibly damaging	Het
Sele	G	A	1: 163,879,207 (GRCm39)	V281M	possibly damaging	Het
Slc17a1	C	A	13: 24,071,982 (GRCm39)	T400K	probably damaging	Het
Slc22a28	T	A	19: 8,108,788 (GRCm39)	D118V	probably damaging	Het
Slc2a10	T	A	2: 165,356,671 (GRCm39)	F110L	probably benign	Het
Slc51a	A	G	16: 32,295,197 (GRCm39)	S294P	probably damaging	Het
Snapc4	T	C	2: 26,254,711 (GRCm39)	E1271G	probably benign	Het
Spata31	C	A	13: 65,070,065 (GRCm39)	Q738K	possibly damaging	Het
Spdya	A	G	17: 71,895,587 (GRCm39)	D284G	probably benign	Het
Tdrd5	T	C	1: 156,094,832 (GRCm39)	D757G	possibly damaging	Het
Tmem104	T	C	11: 115,134,199 (GRCm39)	F245S	probably damaging	Het
Tmem170	A	T	8: 112,603,153 (GRCm39)	S39T	probably benign	Het
Trim24	G	T	6: 37,892,233 (GRCm39)		probably null	Het
Uap1	A	G	1: 169,978,635 (GRCm39)	V302A	probably damaging	Het
Vmn2r96	A	T	17: 18,803,023 (GRCm39)	Y311F	probably damaging	Het
Wdhd1	A	T	14: 47,512,252 (GRCm39)	D46E	possibly damaging	Het
Zdbf2	G	A	1: 63,342,073 (GRCm39)	V151I	possibly damaging	Het
Zfp747l1	A	T	7: 126,983,621 (GRCm39)	C494S	possibly damaging	Het
Zfp943	A	G	17: 22,211,763 (GRCm39)	Q283R	possibly damaging	Het
Zfp944	A	T	17: 22,558,235 (GRCm39)	D337E	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
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
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
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'- GGACTCCTGCATTTGATGAAAAC -3'
(R):5'- AGGCAGGTCAATATAGTTAGCATG -3'

Sequencing Primer
(F):5'- AAGACAGATCTGTGTAGCCCTGTC -3'
(R):5'- GTTAGCATGAAACAAGGTTTTTCTC -3'

Posted On

2020-09-02