Mutagenetix > Incidental Mutation

Incidental Mutation 'R0147:Raf1'

60830

Institutional Source

Beutler Lab

Gene Symbol

Raf1

Ensembl Gene

ENSMUSG00000000441

Gene Name

v-raf-leukemia viral oncogene 1

Synonyms

c-Raf, sarcoma 3611 oncogene, Craf1, Raf-1, v-Raf, 6430402F14Rik

MMRRC Submission

038431-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0147 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115595530-115653596 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115609934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 202 (G202S)

Ref Sequence

ENSEMBL: ENSMUSP00000108571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000451] [ENSMUST00000112949]

AlphaFold

Q99N57

Predicted Effect

probably benign
Transcript: ENSMUST00000000451
AA Change: G202S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000000451
Gene: ENSMUSG00000000441
AA Change: G202S

Domain	Start	End	E-Value	Type
RBD	56	131	6.95e-35	SMART
C1	139	184	1.2e-13	SMART
low complexity region	283	301	N/A	INTRINSIC
Pfam:Pkinase	349	606	7.2e-61	PFAM
Pfam:Pkinase_Tyr	349	606	3.5e-65	PFAM
Pfam:Kinase-like	400	596	3.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112949
AA Change: G202S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108571
Gene: ENSMUSG00000000441
AA Change: G202S

Domain	Start	End	E-Value	Type
RBD	56	131	6.95e-35	SMART
C1	139	184	1.2e-13	SMART
low complexity region	283	301	N/A	INTRINSIC
Pfam:Pkinase_Tyr	349	606	3.4e-64	PFAM
Pfam:Pkinase	349	608	1.1e-61	PFAM
Pfam:Kinase-like	399	596	2e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130528

Predicted Effect

unknown
Transcript: ENSMUST00000147979
AA Change: G8S

SMART Domains

Protein: ENSMUSP00000115424
Gene: ENSMUSG00000000441
AA Change: G8S

Domain	Start	End	E-Value	Type
Blast:RBD	2	28	9e-7	BLAST
PDB:4IHL\|P	36	71	1e-9	PDB
low complexity region	110	128	N/A	INTRINSIC
PDB:3OMV\|B	150	205	6e-33	PDB
SCOP:d1b6cb_	153	205	3e-9	SMART

Meta Mutation Damage Score

0.0849

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 94.5%
20x: 86.1%

Validation Efficiency

67% (88/131)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations are growth retarded, with hypocellular fetal livers, placental anomalies, and defects of skin and lungs, resulting in lethality around mid-gestation. Mice heterozygous for a knock-in allele exhibit hypertrophic cardiomyopathy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,639,405 (GRCm39)		probably null	Het
Abtb2	A	G	2: 103,397,480 (GRCm39)	I137V	probably benign	Het
Ank1	T	A	8: 23,613,993 (GRCm39)	N1545K	probably damaging	Het
Arl6	T	C	16: 59,439,153 (GRCm39)		probably benign	Het
Avl9	T	A	6: 56,713,487 (GRCm39)	D248E	probably benign	Het
Becn1	T	C	11: 101,192,562 (GRCm39)	E40G	probably damaging	Het
Bod1l	G	T	5: 41,976,040 (GRCm39)	A1758E	possibly damaging	Het
Btbd16	C	T	7: 130,381,324 (GRCm39)	T19I	probably damaging	Het
Casc3	T	A	11: 98,713,325 (GRCm39)	N246K	possibly damaging	Het
Celf1	G	T	2: 90,835,035 (GRCm39)		probably benign	Het
Chrm3	G	T	13: 9,928,780 (GRCm39)	N85K	probably damaging	Het
Cluh	T	A	11: 74,556,764 (GRCm39)	Y935N	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,802,993 (GRCm39)	D1324G	unknown	Het
Ctcfl	T	C	2: 172,960,340 (GRCm39)	D81G	possibly damaging	Het
D630003M21Rik	C	T	2: 158,044,987 (GRCm39)		probably benign	Het
Ddx39a	C	T	8: 84,449,105 (GRCm39)	R298C	possibly damaging	Het
Dnmt3b	T	G	2: 153,503,377 (GRCm39)	N9K	possibly damaging	Het
Dock8	T	C	19: 25,096,823 (GRCm39)	L577P	probably benign	Het
Drc1	A	T	5: 30,486,487 (GRCm39)	N13I	possibly damaging	Het
Eml4	T	A	17: 83,729,081 (GRCm39)	N85K	probably damaging	Het
Epb41l4a	T	C	18: 33,931,853 (GRCm39)	T581A	probably damaging	Het
Epha3	T	C	16: 63,433,307 (GRCm39)	D446G	possibly damaging	Het
Fam209	G	T	2: 172,315,900 (GRCm39)	G92C	probably damaging	Het
Fam98c	T	A	7: 28,852,146 (GRCm39)	R340*	probably null	Het
Fbxw10	T	G	11: 62,738,307 (GRCm39)		probably null	Het
Galr1	A	G	18: 82,423,695 (GRCm39)	L194P	probably benign	Het
Gar1	T	C	3: 129,623,122 (GRCm39)	H89R	probably damaging	Het
Gbp4	T	A	5: 105,267,362 (GRCm39)	Y519F	probably benign	Het
Gm28042	T	A	2: 119,866,944 (GRCm39)	S196T	probably benign	Het
Grid2	T	C	6: 64,510,571 (GRCm39)	Y734H	probably benign	Het
Grm6	T	A	11: 50,750,144 (GRCm39)	I466N	possibly damaging	Het
Hectd3	T	C	4: 116,854,237 (GRCm39)		probably benign	Het
Hpse2	A	C	19: 42,920,099 (GRCm39)		probably null	Het
Hspb7	T	C	4: 141,151,302 (GRCm39)	I148T	probably damaging	Het
Htr1d	C	A	4: 136,170,788 (GRCm39)	T339K	probably damaging	Het
Ip6k1	T	A	9: 107,923,093 (GRCm39)	D408E	probably damaging	Het
Irs2	A	T	8: 11,057,568 (GRCm39)	M288K	probably damaging	Het
Kansl3	A	T	1: 36,392,897 (GRCm39)	C225S	probably damaging	Het
Knop1	C	A	7: 118,445,061 (GRCm39)	R301L	probably benign	Het
Lama5	T	C	2: 179,832,199 (GRCm39)	H1714R	probably benign	Het
Mettl14	G	A	3: 123,165,043 (GRCm39)	T316I	probably damaging	Het
Mmp15	A	T	8: 96,098,945 (GRCm39)	N591Y	probably benign	Het
Mprip	T	A	11: 59,627,899 (GRCm39)	D93E	possibly damaging	Het
Mtmr14	T	A	6: 113,237,627 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,364,776 (GRCm39)	S1917P	probably benign	Het
Muc6	C	T	7: 141,238,255 (GRCm39)	C75Y	probably damaging	Het
Naip1	A	T	13: 100,563,418 (GRCm39)	H582Q	possibly damaging	Het
Nbeal2	G	A	9: 110,471,211 (GRCm39)	R264*	probably null	Het
Neb	T	C	2: 52,139,388 (GRCm39)	K140E	probably damaging	Het
Nfya	A	G	17: 48,706,026 (GRCm39)	V48A	possibly damaging	Het
Ngf	G	T	3: 102,417,119 (GRCm39)		probably benign	Het
Nsmce2	T	G	15: 59,250,806 (GRCm39)	S26A	probably damaging	Het
Or52s19	T	C	7: 103,007,613 (GRCm39)	T263A	possibly damaging	Het
Or5m13b	T	A	2: 85,754,362 (GRCm39)	I250N	possibly damaging	Het
Or7e177	T	G	9: 20,212,387 (GRCm39)	M297R	probably damaging	Het
Pax1	A	G	2: 147,215,654 (GRCm39)	S424G	probably benign	Het
Pcdhb19	A	T	18: 37,630,235 (GRCm39)	Q10L	probably benign	Het
Pdcl	T	C	2: 37,242,142 (GRCm39)	I203V	probably benign	Het
Pknox1	T	A	17: 31,823,764 (GRCm39)	N379K	probably benign	Het
Plxna1	C	T	6: 89,297,692 (GRCm39)	A1831T	possibly damaging	Het
Prodh	T	G	16: 17,895,677 (GRCm39)	Q360P	probably damaging	Het
Pygo2	T	C	3: 89,340,610 (GRCm39)	V299A	probably damaging	Het
Rgs11	T	A	17: 26,426,433 (GRCm39)		probably null	Het
Rmc1	C	T	18: 12,322,328 (GRCm39)	R594C	probably damaging	Het
Rnf13	A	G	3: 57,709,889 (GRCm39)	D144G	probably damaging	Het
Rtel1	T	C	2: 180,962,839 (GRCm39)	C31R	probably damaging	Het
Rubcnl	T	A	14: 75,279,898 (GRCm39)	I427K	probably damaging	Het
Sec23ip	C	T	7: 128,380,775 (GRCm39)		probably benign	Het
Slc25a26	T	A	6: 94,569,507 (GRCm39)		probably null	Het
Slc6a7	A	G	18: 61,135,183 (GRCm39)		probably benign	Het
Slco6b1	A	T	1: 96,915,562 (GRCm39)		noncoding transcript	Het
Spata17	A	G	1: 186,844,798 (GRCm39)	V111A	probably damaging	Het
Spata22	T	A	11: 73,221,979 (GRCm39)	M1K	probably null	Het
Svep1	C	T	4: 58,116,608 (GRCm39)	D881N	possibly damaging	Het
Sypl2	T	A	3: 108,126,411 (GRCm39)	N67I	possibly damaging	Het
Tasor	A	G	14: 27,193,725 (GRCm39)	D975G	probably benign	Het
Tenm3	T	C	8: 48,689,755 (GRCm39)	Y1944C	probably damaging	Het
Tm9sf4	G	T	2: 153,037,233 (GRCm39)	V365L	probably benign	Het
Tmc3	T	C	7: 83,256,950 (GRCm39)	V401A	probably damaging	Het
Trpm2	C	T	10: 77,761,659 (GRCm39)	G997D	probably damaging	Het
Unc5b	A	T	10: 60,608,076 (GRCm39)	S675T	probably damaging	Het
Vmn1r217	A	G	13: 23,298,107 (GRCm39)	M265T	probably benign	Het
Vps54	T	A	11: 21,250,259 (GRCm39)	D548E	probably benign	Het
Wdfy3	A	G	5: 102,065,277 (GRCm39)	V1297A	probably benign	Het
Wdr46	T	A	17: 34,159,997 (GRCm39)	F70I	probably benign	Het
Zdbf2	C	T	1: 63,343,165 (GRCm39)	Q515*	probably null	Het
Zfp710	T	A	7: 79,731,721 (GRCm39)	C299*	probably null	Het

Other mutations in Raf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01973:Raf1	APN	6	115,653,530 (GRCm39)	unclassified	probably benign
IGL02379:Raf1	APN	6	115,621,509 (GRCm39)	missense	probably benign
IGL02427:Raf1	APN	6	115,608,288 (GRCm39)	missense	probably benign
IGL02586:Raf1	APN	6	115,597,267 (GRCm39)	missense	probably damaging	0.98
IGL02620:Raf1	APN	6	115,609,848 (GRCm39)	splice site	probably benign
P0028:Raf1	UTSW	6	115,608,166 (GRCm39)	splice site	probably benign
R0044:Raf1	UTSW	6	115,600,476 (GRCm39)	missense	probably benign	0.12
R0044:Raf1	UTSW	6	115,600,476 (GRCm39)	missense	probably benign	0.12
R0116:Raf1	UTSW	6	115,603,344 (GRCm39)	missense	probably damaging	1.00
R0148:Raf1	UTSW	6	115,609,934 (GRCm39)	missense	probably benign
R0554:Raf1	UTSW	6	115,600,491 (GRCm39)	missense	probably benign	0.05
R0811:Raf1	UTSW	6	115,603,671 (GRCm39)	critical splice donor site	probably null
R0812:Raf1	UTSW	6	115,603,671 (GRCm39)	critical splice donor site	probably null
R1070:Raf1	UTSW	6	115,614,660 (GRCm39)	missense	probably benign	0.00
R4261:Raf1	UTSW	6	115,600,015 (GRCm39)	critical splice acceptor site	probably null
R4669:Raf1	UTSW	6	115,609,880 (GRCm39)	missense	probably damaging	1.00
R4846:Raf1	UTSW	6	115,621,544 (GRCm39)	missense	possibly damaging	0.91
R5038:Raf1	UTSW	6	115,597,196 (GRCm39)	nonsense	probably null
R5214:Raf1	UTSW	6	115,614,583 (GRCm39)	missense	possibly damaging	0.82
R5472:Raf1	UTSW	6	115,603,667 (GRCm39)	splice site	probably null
R5511:Raf1	UTSW	6	115,597,217 (GRCm39)	missense	probably benign	0.32
R5539:Raf1	UTSW	6	115,596,317 (GRCm39)	missense	probably damaging	1.00
R5926:Raf1	UTSW	6	115,596,859 (GRCm39)	missense	probably benign	0.45
R6424:Raf1	UTSW	6	115,596,542 (GRCm39)	missense	probably benign	0.02
R6649:Raf1	UTSW	6	115,608,302 (GRCm39)	missense	probably benign	0.03
R7021:Raf1	UTSW	6	115,597,300 (GRCm39)	splice site	probably null
R7969:Raf1	UTSW	6	115,597,249 (GRCm39)	missense	probably damaging	1.00
R9182:Raf1	UTSW	6	115,600,440 (GRCm39)	missense	probably damaging	1.00
R9614:Raf1	UTSW	6	115,596,597 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGGTGCTCCACAAAGCAGGAC -3'
(R):5'- GCTCCCTCATTTCAGAAGGGTTGG -3'

Sequencing Primer
(F):5'- TCCACAAAGCAGGACATGAAG -3'
(R):5'- GCTAGGTAACTAAGACTGCTCTGC -3'

Posted On

2013-07-24