Mutagenetix > Incidental Mutation

Incidental Mutation 'R0116:Raf1'

20795

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

038402-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0116 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

115595530-115653596 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115603344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 165 (S165N)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000449] [ENSMUST00000000451] [ENSMUST00000112949] [ENSMUST00000203759]

AlphaFold

Q99N57

Predicted Effect

probably benign
Transcript: ENSMUST00000000449

SMART Domains

Protein: ENSMUSP00000000449
Gene: ENSMUSG00000000439

Domain	Start	End	E-Value	Type
ZnF_C3H1	2	28	5.02e-6	SMART
ZnF_C3H1	32	57	1.75e-5	SMART
low complexity region	58	85	N/A	INTRINSIC
ZnF_C3H1	165	191	2.79e-4	SMART
RING	238	291	5.82e-6	SMART
ZnF_C3H1	322	349	5.5e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000000451
AA Change: S339N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000000451
Gene: ENSMUSG00000000441
AA Change: S339N

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: S339N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000108571
Gene: ENSMUSG00000000441
AA Change: S339N

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

probably damaging
Transcript: ENSMUST00000147979
AA Change: S165N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115424
Gene: ENSMUSG00000000441
AA Change: S165N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204512

Predicted Effect

probably benign
Transcript: ENSMUST00000203142

Predicted Effect

probably benign
Transcript: ENSMUST00000203759

SMART Domains

Protein: ENSMUSP00000145520
Gene: ENSMUSG00000000441

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	58	1e-6	PFAM
Pfam:Pkinase	1	60	1e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203826

Meta Mutation Damage Score

0.1308

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

94% (95/101)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	T	9: 15,202,066 (GRCm39)	V152E	probably damaging	Het
Abca5	T	G	11: 110,167,331 (GRCm39)	E1495A	probably damaging	Het
Abcc12	G	A	8: 87,261,627 (GRCm39)	S668F	probably benign	Het
Adgrl4	A	T	3: 151,223,247 (GRCm39)	T608S	probably benign	Het
Angel2	G	A	1: 190,673,187 (GRCm39)	D255N	probably benign	Het
Apob	T	A	12: 8,039,113 (GRCm39)		probably benign	Het
Arfgef2	A	T	2: 166,715,603 (GRCm39)	R1349S	probably damaging	Het
Atp2b2	C	T	6: 113,770,656 (GRCm39)	V418I	probably damaging	Het
Birc6	C	A	17: 74,930,741 (GRCm39)		probably benign	Het
Capn13	T	A	17: 73,658,519 (GRCm39)	Y183F	probably damaging	Het
Cngb1	A	G	8: 95,987,266 (GRCm39)	S352P	probably damaging	Het
Col6a3	A	G	1: 90,741,273 (GRCm39)	S720P	probably damaging	Het
Cpa4	C	T	6: 30,579,657 (GRCm39)	R155W	probably damaging	Het
Dapk1	A	G	13: 60,908,914 (GRCm39)	I1176V	probably benign	Het
Dnah17	T	C	11: 117,949,132 (GRCm39)	E2959G	probably benign	Het
Dnah7b	T	A	1: 46,252,520 (GRCm39)	I1734N	possibly damaging	Het
Dnajb7	A	G	15: 81,291,555 (GRCm39)	Y261H	probably benign	Het
Dock2	T	C	11: 34,579,392 (GRCm39)		probably benign	Het
Dyrk3	A	T	1: 131,057,576 (GRCm39)	V199E	probably damaging	Het
F2r	G	T	13: 95,740,994 (GRCm39)	C180*	probably null	Het
F5	A	G	1: 164,012,483 (GRCm39)	S466G	probably benign	Het
Fbn2	A	T	18: 58,235,445 (GRCm39)	C677*	probably null	Het
Fbxo41	A	G	6: 85,454,890 (GRCm39)	S673P	probably damaging	Het
Fhad1	G	T	4: 141,667,406 (GRCm39)	H639N	probably benign	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Foxa2	A	G	2: 147,885,481 (GRCm39)	S270P	probably damaging	Het
Fxyd7	C	T	7: 30,746,793 (GRCm39)		probably null	Het
Gm5225	A	G	17: 24,243,032 (GRCm39)	D67G	probably benign	Het
Grik3	G	A	4: 125,564,349 (GRCm39)	E444K	probably benign	Het
Gsdma2	A	G	11: 98,540,009 (GRCm39)	K44E	probably damaging	Het
Haus1	T	A	18: 77,849,770 (GRCm39)	K130*	probably null	Het
Heg1	A	G	16: 33,556,028 (GRCm39)		probably benign	Het
Hormad2	A	G	11: 4,362,206 (GRCm39)		probably benign	Het
Hsd17b3	G	A	13: 64,206,403 (GRCm39)	R300C	possibly damaging	Het
Irf5	T	C	6: 29,536,108 (GRCm39)	F374S	probably damaging	Het
Itch	A	G	2: 155,059,903 (GRCm39)		probably benign	Het
Jade2	A	T	11: 51,722,136 (GRCm39)	L139Q	probably damaging	Het
Kif5c	G	A	2: 49,642,251 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,083,918 (GRCm39)	Y1387H	probably benign	Het
Larp4b	A	G	13: 9,220,724 (GRCm39)	R658G	probably damaging	Het
Mcph1	C	T	8: 18,838,264 (GRCm39)	L729F	probably benign	Het
Me1	A	T	9: 86,536,720 (GRCm39)	N118K	probably benign	Het
Med13	A	G	11: 86,210,723 (GRCm39)	L473S	probably damaging	Het
Mgam	T	A	6: 40,635,921 (GRCm39)	Y359N	probably damaging	Het
Morc2b	A	G	17: 33,356,015 (GRCm39)	S586P	probably damaging	Het
Mthfr	A	G	4: 148,135,980 (GRCm39)	D310G	probably benign	Het
Mtmr7	A	T	8: 41,034,447 (GRCm39)		probably benign	Het
Mtus1	A	G	8: 41,451,514 (GRCm39)		probably benign	Het
Mus81	G	T	19: 5,536,552 (GRCm39)	A138D	probably damaging	Het
Myom2	A	T	8: 15,167,633 (GRCm39)	I1073F	probably damaging	Het
Nhsl1	A	T	10: 18,400,990 (GRCm39)	K739*	probably null	Het
Nlrp4d	T	A	7: 10,108,818 (GRCm39)	K762N	probably benign	Het
Nrap	T	C	19: 56,343,978 (GRCm39)	Y724C	probably damaging	Het
Ogn	A	T	13: 49,774,514 (GRCm39)	Y219F	possibly damaging	Het
Or6c212	T	A	10: 129,558,846 (GRCm39)	D189V	probably damaging	Het
Or8b56	T	C	9: 38,739,860 (GRCm39)	L291P	probably damaging	Het
Or8g30	A	T	9: 39,230,160 (GRCm39)	I250N	probably damaging	Het
Padi2	T	C	4: 140,653,550 (GRCm39)	V180A	probably benign	Het
Papss2	C	T	19: 32,615,768 (GRCm39)	R167*	probably null	Het
Pcbp2	T	C	15: 102,382,670 (GRCm39)		probably benign	Het
Per1	T	A	11: 68,992,706 (GRCm39)		probably benign	Het
Pik3ca	T	C	3: 32,514,094 (GRCm39)	I860T	probably damaging	Het
Pkdrej	G	A	15: 85,701,746 (GRCm39)	Q1397*	probably null	Het
Plce1	T	C	19: 38,710,265 (GRCm39)	V1133A	probably benign	Het
Pnma8a	T	G	7: 16,694,625 (GRCm39)	V160G	probably damaging	Het
Prss12	T	C	3: 123,276,423 (GRCm39)	C351R	probably damaging	Het
Qprt	A	T	7: 126,708,269 (GRCm39)	L54Q	probably damaging	Het
Rere	A	G	4: 150,701,433 (GRCm39)	N1271S	probably benign	Het
Rnasel	T	A	1: 153,630,258 (GRCm39)	L258H	probably damaging	Het
Ryr2	T	C	13: 11,724,807 (GRCm39)	D2502G	probably damaging	Het
Ryr3	G	A	2: 112,633,510 (GRCm39)	S2081L	probably damaging	Het
Sc5d	G	T	9: 42,171,155 (GRCm39)	Y11*	probably null	Het
Slc25a29	A	C	12: 108,793,017 (GRCm39)	L187R	possibly damaging	Het
Slc2a7	G	A	4: 150,252,721 (GRCm39)	V454M	probably benign	Het
Slco1b2	A	T	6: 141,615,114 (GRCm39)	T340S	probably benign	Het
Smarcc1	A	G	9: 109,976,172 (GRCm39)	N153S	possibly damaging	Het
Snx1	C	A	9: 65,995,821 (GRCm39)	E516*	probably null	Het
Sptlc2	T	C	12: 87,403,454 (GRCm39)	D115G	probably benign	Het
Stard9	A	G	2: 120,464,736 (GRCm39)	N67S	probably damaging	Het
Styxl2	A	C	1: 165,927,270 (GRCm39)	S781A	probably benign	Het
Swap70	G	A	7: 109,872,489 (GRCm39)	R368H	probably benign	Het
Tcaf3	T	C	6: 42,568,284 (GRCm39)	K691E	probably benign	Het
Tmco4	T	C	4: 138,781,231 (GRCm39)	F465S	probably damaging	Het
Tmem245	A	G	4: 56,926,213 (GRCm39)	S290P	probably benign	Het
Top2a	T	C	11: 98,894,416 (GRCm39)	T972A	probably benign	Het
Tpr	T	A	1: 150,285,898 (GRCm39)	S527R	probably damaging	Het
Traf2	T	C	2: 25,409,621 (GRCm39)	D443G	probably damaging	Het
Trim40	A	T	17: 37,194,039 (GRCm39)		probably null	Het
Trim42	A	T	9: 97,245,456 (GRCm39)	I448N	possibly damaging	Het
Ttll9	G	A	2: 152,825,054 (GRCm39)	V78M	probably damaging	Het
Vav1	C	T	17: 57,603,039 (GRCm39)	L88F	probably damaging	Het
Vps13b	A	G	15: 35,423,301 (GRCm39)	D207G	probably damaging	Het
Wdsub1	A	G	2: 59,707,009 (GRCm39)		probably null	Het
Zfp799	A	G	17: 33,040,009 (GRCm39)	W85R	possibly damaging	Het
Zfp839	A	T	12: 110,825,203 (GRCm39)		probably benign	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
R0147:Raf1	UTSW	6	115,609,934 (GRCm39)	missense	probably benign
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'- TACTGGTTTCTAAGCACCACGGGG -3'
(R):5'- TACGTTGCCATTCGGCTACAGCTC -3'

Sequencing Primer
(F):5'- GCACCACGGGGATTTTATTATACC -3'
(R):5'- TTCGGCTACAGCTCAGTAAAC -3'

Posted On

2013-04-11