Mutagenetix > Incidental Mutation

Incidental Mutation 'R6274:Araf'

507557

Institutional Source

Beutler Lab

Gene Symbol

Araf

Ensembl Gene

ENSMUSG00000001127

Gene Name

Araf proto-oncogene, serine/threonine kinase

Synonyms

1200013E08Rik, Araf1, A-Raf

MMRRC Submission

044444-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.396) question?

Stock #

R6274 (G1)

Quality Score

221.999

Status

Validated

Chromosome

Chromosomal Location

20664053-20726758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 20726339 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Arginine to Leucine at position 601 (R601L)

Ref Sequence

ENSEMBL: ENSMUSP00000001155 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001155] [ENSMUST00000081893] [ENSMUST00000115345] [ENSMUST00000136451]

AlphaFold

P04627

Predicted Effect

probably damaging
Transcript: ENSMUST00000001155
AA Change: R601L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000001155
Gene: ENSMUSG00000001127
AA Change: R601L

Domain	Start	End	E-Value	Type
RBD	19	91	1.46e-28	SMART
C1	99	144	7.68e-12	SMART
low complexity region	243	268	N/A	INTRINSIC
Pfam:Pkinase_Tyr	308	565	1.9e-61	PFAM
Pfam:Pkinase	308	566	1.7e-56	PFAM
Pfam:Kinase-like	388	555	1.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000081893

SMART Domains

Protein: ENSMUSP00000080568
Gene: ENSMUSG00000037217

Domain	Start	End	E-Value	Type
Pfam:Synapsin_N	1	32	1.3e-23	PFAM
low complexity region	87	94	N/A	INTRINSIC
Pfam:Synapsin	111	212	7.8e-47	PFAM
Pfam:Synapsin_C	214	416	3.2e-124	PFAM
low complexity region	427	440	N/A	INTRINSIC
low complexity region	450	491	N/A	INTRINSIC
low complexity region	493	505	N/A	INTRINSIC
low complexity region	509	524	N/A	INTRINSIC
low complexity region	533	563	N/A	INTRINSIC
low complexity region	579	600	N/A	INTRINSIC
low complexity region	608	636	N/A	INTRINSIC
low complexity region	646	659	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115345

SMART Domains

Protein: ENSMUSP00000111002
Gene: ENSMUSG00000037217

Domain	Start	End	E-Value	Type
Pfam:Synapsin_N	1	32	1.3e-23	PFAM
low complexity region	87	94	N/A	INTRINSIC
Pfam:Synapsin	110	212	3.2e-60	PFAM
Pfam:Synapsin_C	214	416	1.1e-132	PFAM
Pfam:RimK	229	409	3.3e-8	PFAM
low complexity region	427	440	N/A	INTRINSIC
low complexity region	450	491	N/A	INTRINSIC
low complexity region	493	505	N/A	INTRINSIC
low complexity region	509	524	N/A	INTRINSIC
low complexity region	533	563	N/A	INTRINSIC
low complexity region	579	600	N/A	INTRINSIC
low complexity region	608	636	N/A	INTRINSIC
low complexity region	646	659	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000128250
AA Change: R199L

SMART Domains

Protein: ENSMUSP00000119544
Gene: ENSMUSG00000001127
AA Change: R199L

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	5	109	3.8e-15	PFAM
Pfam:Pkinase	16	109	2.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136451

SMART Domains

Protein: ENSMUSP00000115793
Gene: ENSMUSG00000001127

Domain	Start	End	E-Value	Type
RBD	56	128	1.46e-28	SMART
C1	136	181	7.68e-12	SMART
low complexity region	280	305	N/A	INTRINSIC
Pfam:Pkinase_Tyr	345	401	2.3e-7	PFAM
Pfam:Pkinase	345	403	7.2e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176786

Meta Mutation Damage Score

0.1142

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This proto-oncogene belongs to the RAF subfamily of the Ser/Thr protein kinase family, and maybe involved in cell growth and development. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous females or hemizygous males for a null targeted mutation show variable genetic background effects, from preweaning death, wasting, tremors, distended colon and small thymus to normal survival and breeding with mild neurological defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Ano1	A	T	7: 144,172,600 (GRCm39)	S528T	probably benign	Het
Bcl2l10	T	C	9: 75,258,354 (GRCm39)	I172T	possibly damaging	Het
Bpifb3	A	T	2: 153,771,243 (GRCm39)	N385I	possibly damaging	Het
Bsnd	A	G	4: 106,343,832 (GRCm39)	V158A	probably damaging	Het
Cacna1s	A	G	1: 136,016,783 (GRCm39)	N481S	probably benign	Het
Cdk5rap1	A	G	2: 154,210,161 (GRCm39)	V138A	probably damaging	Het
Cep290	A	G	10: 100,366,069 (GRCm39)	E1099G	probably damaging	Het
Cers1	T	A	8: 70,783,727 (GRCm39)	L225Q	probably damaging	Het
Cfb	T	C	17: 35,081,069 (GRCm39)	Q7R	probably benign	Het
Clk4	A	G	11: 51,162,748 (GRCm39)	S98G	possibly damaging	Het
Clock	A	G	5: 76,385,000 (GRCm39)	S406P	probably benign	Het
Csmd3	T	C	15: 47,484,833 (GRCm39)	I3178V	probably benign	Het
Dock10	A	G	1: 80,516,540 (GRCm39)	S1397P	probably damaging	Het
Fer1l4	A	G	2: 155,871,188 (GRCm39)	L1421P	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Greb1	G	T	12: 16,785,152 (GRCm39)	T91K	probably damaging	Het
Grid2ip	G	A	5: 143,366,184 (GRCm39)	S379N	probably damaging	Het
Gucy1b2	A	T	14: 62,653,388 (GRCm39)	C336S	probably damaging	Het
Hdac1	A	G	4: 129,412,902 (GRCm39)	C261R	probably damaging	Het
Htt	T	C	5: 35,009,431 (GRCm39)	S1471P	possibly damaging	Het
Ice1	A	G	13: 70,742,958 (GRCm39)	V2134A	probably damaging	Het
Ikzf1	C	T	11: 11,718,961 (GRCm39)	Q310*	probably null	Het
Il3ra	G	A	14: 14,350,180 (GRCm38)	V112I	probably benign	Het
Kif21b	A	G	1: 136,077,156 (GRCm39)	I393V	possibly damaging	Het
Krt74	T	C	15: 101,671,872 (GRCm39)		noncoding transcript	Het
Krtap29-1	T	C	11: 99,869,809 (GRCm39)	N24S	probably null	Het
Mmut	T	C	17: 41,267,136 (GRCm39)	V570A	probably benign	Het
Myh7	T	C	14: 55,216,943 (GRCm39)	D1138G	probably damaging	Het
Nktr	T	C	9: 121,560,631 (GRCm39)	I125T	probably damaging	Het
Nlrp2	A	T	7: 5,320,554 (GRCm39)	L861Q	probably damaging	Het
Notch3	C	A	17: 32,366,264 (GRCm39)	R990L	probably benign	Het
Nrap	T	C	19: 56,350,153 (GRCm39)	D655G	probably benign	Het
Or10ak8	A	T	4: 118,774,427 (GRCm39)	V79E	probably benign	Het
Or5b99	G	A	19: 12,977,234 (GRCm39)	V295I	probably damaging	Het
Osbpl11	T	A	16: 33,047,426 (GRCm39)	I463N	probably damaging	Het
Pcsk6	A	T	7: 65,683,592 (GRCm39)	R749W	probably damaging	Het
Plaat5	C	T	19: 7,614,831 (GRCm39)	T231I	probably damaging	Het
Plxnb1	T	C	9: 108,941,209 (GRCm39)		probably null	Het
Polr1a	T	A	6: 71,931,874 (GRCm39)		probably null	Het
Ppm1g	T	C	5: 31,363,750 (GRCm39)	I153V	probably damaging	Het
Ppp1r12a	T	C	10: 108,096,751 (GRCm39)	S191P	probably benign	Het
Prodh	T	C	16: 17,898,922 (GRCm39)	K178E	possibly damaging	Het
Rilpl2	A	G	5: 124,607,911 (GRCm39)	V103A	possibly damaging	Het
Sap18b	C	T	8: 96,552,169 (GRCm39)	H60Y	probably benign	Het
Sclt1	A	G	3: 41,583,951 (GRCm39)		probably null	Het
Serpinb1a	G	T	13: 33,026,849 (GRCm39)	H364Q	probably damaging	Het
Sez6l	G	A	5: 112,623,231 (GRCm39)	Q107*	probably null	Het
Sipa1l2	C	T	8: 126,196,611 (GRCm39)	V708I	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Uaca	T	A	9: 60,757,573 (GRCm39)		probably null	Het
Uqcrc1	C	A	9: 108,771,224 (GRCm39)	H95N	probably damaging	Het
Usp9y	C	T	Y: 1,316,735 (GRCm39)	R1938H	probably damaging	Homo
Wnk4	C	T	11: 101,156,257 (GRCm39)	R42W	probably damaging	Het
Zfp326	T	A	5: 106,053,846 (GRCm39)	L242Q	probably damaging	Het

Other mutations in Araf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02244:Araf	APN	X	20,719,835 (GRCm39)	splice site	probably benign
IGL02484:Araf	APN	X	20,720,148 (GRCm39)	splice site	probably benign
R1496:Araf	UTSW	X	20,725,943 (GRCm39)	missense	probably damaging	1.00
R2228:Araf	UTSW	X	20,717,912 (GRCm39)	missense	probably benign	0.30
R3732:Araf	UTSW	X	20,716,465 (GRCm39)	critical splice acceptor site	probably benign
R6193:Araf	UTSW	X	20,726,339 (GRCm39)	missense	probably damaging	0.98
R6194:Araf	UTSW	X	20,726,339 (GRCm39)	missense	probably damaging	0.98
R6195:Araf	UTSW	X	20,726,339 (GRCm39)	missense	probably damaging	0.98
R6242:Araf	UTSW	X	20,726,339 (GRCm39)	missense	probably damaging	0.98
R6243:Araf	UTSW	X	20,726,339 (GRCm39)	missense	probably damaging	0.98
R6244:Araf	UTSW	X	20,726,339 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TATCTCTGGGACTCTGGACAC -3'
(R):5'- CTGAGTCACAGCCATTGGAG -3'

Sequencing Primer
(F):5'- TGGGACTCTGGACACCCCTC -3'
(R):5'- GCCATTGGAGATAAAACAGCTCTC -3'

Posted On

2018-03-15