Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01621:Braf'

92631

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Braf

Ensembl Gene

ENSMUSG00000002413

Gene Name

Braf transforming gene

Synonyms

Braf-2, D6Ertd631e, 9930012E13Rik, Braf2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01621

Quality Score

Status

Chromosome

Chromosomal Location

39603237-39725463 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 39646853 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099036 (fasta)

Gene Model

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169647

Coding Region Coverage

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 63,898,383	T154I	possibly damaging	Het
4933434E20Rik	T	A	3: 90,064,502	M56K	possibly damaging	Het
5730559C18Rik	C	A	1: 136,219,775	A402S	probably damaging	Het
A730017C20Rik	A	G	18: 59,062,386	M1V	probably null	Het
Abca6	A	G	11: 110,184,708	L1319S	probably damaging	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aloxe3	A	G	11: 69,130,013	N188S	probably benign	Het
Ap1s1	G	A	5: 137,041,804	R119*	probably null	Het
Apc2	T	G	10: 80,306,201	L318R	probably damaging	Het
Atg101	A	G	15: 101,287,095	S33G	possibly damaging	Het
Atp8a2	A	T	14: 60,015,868		probably benign	Het
Bpifb9b	C	A	2: 154,316,951		probably null	Het
Cabp5	A	G	7: 13,401,264	D43G	probably damaging	Het
Cfap46	T	C	7: 139,606,607	N2462S	unknown	Het
Cit	C	T	5: 115,992,603		probably benign	Het
Cpa4	T	C	6: 30,574,416	V68A	probably damaging	Het
Cyp2j5	T	C	4: 96,629,554	I474V	probably benign	Het
Dennd1a	C	A	2: 37,844,809	D49Y	probably damaging	Het
Dlg5	T	C	14: 24,148,221	D1525G	probably damaging	Het
Dnajc18	C	T	18: 35,680,840	R292H	probably benign	Het
Dync2h1	A	G	9: 7,140,897		probably null	Het
E2f6	A	G	12: 16,825,368	D268G	probably benign	Het
Evi2b	T	A	11: 79,516,300	T150S	probably damaging	Het
F13b	A	G	1: 139,503,851	D53G	probably benign	Het
Fbxo38	G	A	18: 62,522,524		probably benign	Het
Flnb	C	T	14: 7,950,470	P2596L	probably damaging	Het
Fyco1	A	G	9: 123,827,182		probably benign	Het
Gm13023	T	C	4: 143,793,932	F85L	probably benign	Het
Gm21759	A	G	5: 8,179,775		probably benign	Het
Gtse1	A	G	15: 85,875,082	N597S	probably benign	Het
Hcn3	G	T	3: 89,147,723	S739Y	probably damaging	Het
Ighv9-4	T	A	12: 114,299,992	N107I	probably damaging	Het
Iqub	T	C	6: 24,446,212	K738E	probably benign	Het
Itga6	A	T	2: 71,825,656	D308V	probably benign	Het
Klf12	T	C	14: 100,023,149	Y48C	probably damaging	Het
Klhdc9	A	G	1: 171,358,816	*351Q	probably null	Het
Krt40	A	T	11: 99,542,868	N97K	probably damaging	Het
Lrit1	A	C	14: 37,060,155	T262P	probably damaging	Het
Mcoln1	T	C	8: 3,510,910	Y411H	probably damaging	Het
Mfsd4a	A	G	1: 132,054,143	S149P	probably benign	Het
Mipep	A	G	14: 60,796,165		probably benign	Het
Mslnl	A	G	17: 25,743,667		probably benign	Het
N4bp2	A	T	5: 65,790,924	H299L	probably damaging	Het
Nbn	C	T	4: 15,965,221	P190S	probably benign	Het
Nos1	T	A	5: 117,945,884	I1253N	probably damaging	Het
Nup210	G	T	6: 91,030,117	F572L	probably damaging	Het
Olfr1381	T	C	11: 49,552,137	L130P	probably damaging	Het
Olfr370	T	C	8: 83,541,618	V158A	probably benign	Het
Olfr390	T	C	11: 73,787,277	F113S	probably damaging	Het
P4htm	T	A	9: 108,583,736	E106V	probably damaging	Het
Pcdhb20	C	T	18: 37,504,807	H129Y	possibly damaging	Het
Pdcd6ip	T	C	9: 113,685,422	E240G	probably benign	Het
Pex5l	T	C	3: 33,014,961		probably null	Het
Plcd1	T	C	9: 119,076,178	N181S	probably damaging	Het
Plekhg6	G	T	6: 125,372,099	L412M	probably damaging	Het
Ppp1r13b	T	A	12: 111,835,092	Q386L	possibly damaging	Het
Prpf40b	A	G	15: 99,310,045		probably benign	Het
Rdh11	C	T	12: 79,186,413		probably null	Het
Ripor3	A	T	2: 167,997,252	S110T	probably damaging	Het
Sec24d	G	A	3: 123,294,158		probably null	Het
Secisbp2l	T	C	2: 125,773,211	S165G	probably benign	Het
Shank1	C	T	7: 44,342,465	A698V	unknown	Het
Shank1	T	C	7: 44,351,599	M914T	unknown	Het
Slc22a3	T	C	17: 12,458,492	Q263R	probably benign	Het
Smc1a	C	A	X: 152,036,129	Q647K	probably damaging	Het
Sohlh1	A	G	2: 25,846,861		probably benign	Het
Tacc2	C	A	7: 130,729,768	T484K	probably damaging	Het
Ubr4	G	T	4: 139,440,783	E2825*	probably null	Het
Wbp2nl	G	A	15: 82,308,605	M163I	probably benign	Het
Zfp69	T	A	4: 120,931,500	K206M	probably damaging	Het
Zswim3	G	A	2: 164,821,520	R640H	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
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
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
Z1088:Braf	UTSW	6	39662026	missense	probably damaging	1.00
Z1176:Braf	UTSW	6	39643182	missense	probably damaging	1.00

Posted On

2013-12-09