Mutagenetix > Incidental Mutation

Incidental Mutation 'R1241:Flt1'

151990

Institutional Source

Beutler Lab

Gene Symbol

Flt1

Ensembl Gene

ENSMUSG00000029648

Gene Name

FMS-like tyrosine kinase 1

Synonyms

Flt-1, VEGFR1, vascular endothelial growth factor receptor-1, sFlt1, VEGFR-1

MMRRC Submission

039308-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1241 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

147561604-147726011 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 147599646 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 795 (Y795F)

Ref Sequence

ENSEMBL: ENSMUSP00000031653 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031653]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031653
AA Change: Y795F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031653
Gene: ENSMUSG00000029648
AA Change: Y795F

Domain	Start	End	E-Value	Type
IG	38	130	1.74e-3	SMART
IG	144	225	1.49e-2	SMART
IG	238	330	2.23e-10	SMART
IG	345	426	2.43e-2	SMART
IG	440	554	2.6e-2	SMART
IGc2	569	644	1.76e-8	SMART
IGc2	674	739	6.29e-19	SMART
low complexity region	769	786	N/A	INTRINSIC
TyrKc	828	1154	9.54e-144	SMART

Meta Mutation Damage Score

0.2333

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit an excess of hemangioblasts resulting in an overgrowth of endothelial cells, abnormalities of vascular channels and blood islands, and lethality at the mid-somite developmental stage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 184,033,505	S119N	probably benign	Het
9030619P08Rik	A	C	15: 75,429,997		noncoding transcript	Het
Aldh1l2	T	C	10: 83,496,025	I639V	probably benign	Het
Ambra1	T	C	2: 91,770,896		probably benign	Het
Ap5z1	T	C	5: 142,470,114	Y299H	probably damaging	Het
Atp6v1b1	A	T	6: 83,756,544		probably benign	Het
Atr	G	A	9: 95,950,636	V2574I	probably benign	Het
Atxn1l	T	A	8: 109,732,980	T217S	probably benign	Het
Ccdc85a	A	G	11: 28,396,150	S89P	probably benign	Het
Cd209e	A	T	8: 3,849,124	I196N	probably damaging	Het
Cdhr4	A	G	9: 107,995,296	S247G	probably benign	Het
Cntn6	A	T	6: 104,832,509	I502F	probably damaging	Het
Crisp4	T	C	1: 18,122,794	Y233C	probably damaging	Het
Ctsb	C	A	14: 63,139,104	T261N	probably benign	Het
Ctsk	T	C	3: 95,500,874	F14L	probably benign	Het
Dchs1	T	C	7: 105,758,178	I2110V	probably damaging	Het
Dennd5b	A	G	6: 149,068,490	M155T	probably benign	Het
Echdc3	T	C	2: 6,212,800	D54G	probably benign	Het
Egln3	G	A	12: 54,181,693	T209I	probably damaging	Het
Fbn1	A	C	2: 125,372,527		probably benign	Het
Fkbp15	A	T	4: 62,304,609	S1018T	possibly damaging	Het
Flnb	T	C	14: 7,896,503	I898T	probably benign	Het
Flt4	C	T	11: 49,636,339		probably benign	Het
Fryl	A	G	5: 73,064,925		probably benign	Het
Fryl	T	C	5: 73,110,271	E417G	probably damaging	Het
Gcnt3	T	C	9: 70,034,333	I318V	probably benign	Het
Gm11437	T	A	11: 84,164,628	H54L	possibly damaging	Het
Huwe1	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	X: 151,907,048		probably benign	Het
Jarid2	G	A	13: 44,884,892		probably benign	Het
Kif5b	A	T	18: 6,214,044	V653E	probably benign	Het
Kmt2b	A	G	7: 30,574,940	V2113A	probably damaging	Het
Knl1	C	T	2: 119,072,573	T1585I	probably benign	Het
Mlxipl	T	A	5: 135,132,718	M497K	probably benign	Het
Mre11a	T	A	9: 14,799,639	W210R	probably damaging	Het
Mrps22	A	G	9: 98,594,695	V207A	probably benign	Het
Myo15	A	G	11: 60,499,430	I2111V	possibly damaging	Het
Myo1a	C	T	10: 127,719,279	P838L	probably benign	Het
Nbea	T	A	3: 56,058,040	H484L	probably damaging	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Nlrp2	T	A	7: 5,328,431	D322V	probably damaging	Het
Nrcam	T	C	12: 44,590,164	C1057R	probably damaging	Het
Ntsr1	T	C	2: 180,500,601	S62P	probably damaging	Het
Nudt18	A	G	14: 70,579,427	H157R	probably benign	Het
Olfr1002	T	A	2: 85,647,560	T254S	probably damaging	Het
Olfr982	C	A	9: 40,074,896	N200K	probably damaging	Het
Sidt2	T	C	9: 45,945,704	T435A	probably damaging	Het
Snx27	T	C	3: 94,520,233	T312A	probably benign	Het
Srebf2	T	C	15: 82,177,519	S429P	probably damaging	Het
Suclg2	A	G	6: 95,497,582		probably benign	Het
Tchh	A	T	3: 93,444,972	E573V	unknown	Het
Tdrd1	A	G	19: 56,861,760	T985A	probably benign	Het
Ttc7b	A	G	12: 100,403,439	I357T	possibly damaging	Het
Ttn	T	C	2: 76,795,664	E13271G	probably damaging	Het
Usp13	A	G	3: 32,915,708	E661G	probably damaging	Het
Vasp	T	G	7: 19,259,033		probably benign	Het
Vmn2r109	A	T	17: 20,555,241	Y75N	possibly damaging	Het
Vmn2r15	T	A	5: 109,292,904	N363Y	probably damaging	Het
Vmn2r60	T	A	7: 42,137,052	N426K	probably benign	Het
Wisp2	T	A	2: 163,829,077	M168K	unknown	Het
Znhit2	C	A	19: 6,062,258	N344K	probably damaging	Het

Other mutations in Flt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Flt1	APN	5	147580300	critical splice donor site	probably null
IGL00469:Flt1	APN	5	147603605	missense	probably damaging	0.99
IGL00897:Flt1	APN	5	147589854	missense	probably benign	0.25
IGL01111:Flt1	APN	5	147578336	missense	probably damaging	1.00
IGL01154:Flt1	APN	5	147576156	missense	possibly damaging	0.63
IGL01744:Flt1	APN	5	147571461	missense	probably benign	0.01
IGL01973:Flt1	APN	5	147683889	missense	probably benign	0.01
IGL02079:Flt1	APN	5	147568831	splice site	probably benign
IGL02143:Flt1	APN	5	147578436	missense	probably benign	0.00
IGL02156:Flt1	APN	5	147681741	missense	probably damaging	0.99
IGL02345:Flt1	APN	5	147582626	missense	probably benign	0.20
IGL02548:Flt1	APN	5	147639248	missense	probably benign	0.00
IGL02631:Flt1	APN	5	147673574	nonsense	probably null
IGL02686:Flt1	APN	5	147588602	missense	probably damaging	1.00
IGL02938:Flt1	APN	5	147678299	missense	possibly damaging	0.47
IGL03057:Flt1	APN	5	147681924	nonsense	probably null
IGL03196:Flt1	APN	5	147615127	critical splice donor site	probably null
IGL03205:Flt1	APN	5	147699821	missense	probably benign	0.00
IGL03255:Flt1	APN	5	147588521	splice site	probably benign
flywheels	UTSW	5	147599646	missense	probably damaging	1.00
BB008:Flt1	UTSW	5	147588572	missense	probably damaging	1.00
BB018:Flt1	UTSW	5	147588572	missense	probably damaging	1.00
IGL02837:Flt1	UTSW	5	147655170	missense	probably benign	0.32
PIT4402001:Flt1	UTSW	5	147678239	missense	probably damaging	1.00
R0013:Flt1	UTSW	5	147571014	splice site	probably benign
R0380:Flt1	UTSW	5	147588572	missense	probably damaging	1.00
R0448:Flt1	UTSW	5	147566394	splice site	probably benign
R0789:Flt1	UTSW	5	147639483	missense	probably damaging	1.00
R1005:Flt1	UTSW	5	147681885	missense	probably damaging	0.99
R1302:Flt1	UTSW	5	147564240	missense	possibly damaging	0.93
R1411:Flt1	UTSW	5	147580316	missense	probably damaging	1.00
R1615:Flt1	UTSW	5	147639288	missense	probably damaging	1.00
R1634:Flt1	UTSW	5	147676430	missense	probably damaging	1.00
R1749:Flt1	UTSW	5	147655119	missense	probably benign	0.00
R1768:Flt1	UTSW	5	147672709	missense	probably damaging	1.00
R1972:Flt1	UTSW	5	147655093	splice site	probably benign
R2074:Flt1	UTSW	5	147599606	missense	possibly damaging	0.82
R2081:Flt1	UTSW	5	147639422	missense	probably damaging	1.00
R2864:Flt1	UTSW	5	147594621	missense	possibly damaging	0.68
R2865:Flt1	UTSW	5	147594621	missense	possibly damaging	0.68
R3740:Flt1	UTSW	5	147599593	missense	probably damaging	1.00
R3820:Flt1	UTSW	5	147700017	splice site	probably benign
R4089:Flt1	UTSW	5	147564241	missense	probably benign	0.03
R4299:Flt1	UTSW	5	147683907	missense	probably benign	0.00
R4570:Flt1	UTSW	5	147594613	missense	probably damaging	1.00
R4812:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R4853:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R4865:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R4900:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R4906:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R4907:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R4909:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R5072:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R5073:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R5074:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R5218:Flt1	UTSW	5	147681928	missense	probably damaging	1.00
R5547:Flt1	UTSW	5	147655138	missense	probably damaging	1.00
R5731:Flt1	UTSW	5	147678152	missense	probably benign	0.16
R5732:Flt1	UTSW	5	147634483	nonsense	probably null
R5804:Flt1	UTSW	5	147580437	splice site	probably null
R6107:Flt1	UTSW	5	147603593	missense	probably benign	0.15
R6440:Flt1	UTSW	5	147564305	missense	possibly damaging	0.79
R6453:Flt1	UTSW	5	147683941	missense	possibly damaging	0.80
R6539:Flt1	UTSW	5	147578376	missense	probably benign	0.27
R7068:Flt1	UTSW	5	147673634	missense	probably damaging	1.00
R7112:Flt1	UTSW	5	147603569	missense	probably damaging	1.00
R7195:Flt1	UTSW	5	147603576	missense	probably damaging	1.00
R7255:Flt1	UTSW	5	147580406	missense	probably damaging	1.00
R7347:Flt1	UTSW	5	147580381	missense	probably damaging	1.00
R7469:Flt1	UTSW	5	147603569	missense	probably damaging	1.00
R7473:Flt1	UTSW	5	147594595	missense	probably damaging	1.00
R7663:Flt1	UTSW	5	147655120	missense	probably benign
R7688:Flt1	UTSW	5	147676325	missense	probably benign
R7729:Flt1	UTSW	5	147700367	missense	probably benign	0.00
R7931:Flt1	UTSW	5	147588572	missense	probably damaging	1.00
R8051:Flt1	UTSW	5	147582691	missense	probably benign	0.02
R8275:Flt1	UTSW	5	147678147	missense	probably damaging	0.99
R8434:Flt1	UTSW	5	147639443	missense	probably damaging	0.97
R8442:Flt1	UTSW	5	147576173	missense	probably damaging	1.00
R8756:Flt1	UTSW	5	147639414	missense	probably benign	0.07
R8855:Flt1	UTSW	5	147570872	missense	probably benign	0.00
R8855:Flt1	UTSW	5	147681650	missense	probably damaging	1.00
R9165:Flt1	UTSW	5	147615237	missense	probably damaging	0.99
R9240:Flt1	UTSW	5	147681866	missense	probably benign
R9439:Flt1	UTSW	5	147578397	missense	probably damaging	1.00
R9658:Flt1	UTSW	5	147588567	missense	probably damaging	0.97
X0064:Flt1	UTSW	5	147673613	missense	probably damaging	1.00
Z1088:Flt1	UTSW	5	147681649	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TGTCTCGGCAACAGACTGCATTTC -3'
(R):5'- TGTGTATTTAGGGGACCCTCTGTACC -3'

Sequencing Primer
(F):5'- GGAAGACTCCCAAGTCTTGTC -3'
(R):5'- CTCTGTACCTGGTCAATTGATGC -3'

Posted On

2014-01-29