Mutagenetix > Incidental Mutation

Incidental Mutation 'R7347:Flt1'

570273

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7347 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

147561604-147726011 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 147580381 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 1032 (E1032V)

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: E1032V

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

SMART Domains

Protein: ENSMUSP00000031653
Gene: ENSMUSG00000029648
AA Change: E1032V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (80/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	T	A	9: 103,282,646	E22V	possibly damaging	Het
4930564D02Rik	G	T	3: 105,078,412	R47S	unknown	Het
4931408C20Rik	A	T	1: 26,684,467	L544Q	probably benign	Het
Abtb2	T	G	2: 103,567,412	I229S	probably damaging	Het
Adgre1	T	C	17: 57,420,441	L457P	probably damaging	Het
Amer3	C	A	1: 34,587,902	D407E	probably damaging	Het
Arhgap20	T	C	9: 51,849,035	S729P	probably benign	Het
Asap2	T	G	12: 21,229,457	I418S	probably benign	Het
Atp5j2	T	C	5: 145,188,485		probably null	Het
Brinp3	T	A	1: 146,902,086	V757E	probably benign	Het
Brip1	C	T	11: 86,139,103	G572R	probably benign	Het
C3	C	A	17: 57,223,215	R462L	probably benign	Het
Cat	T	A	2: 103,463,298	H395L	probably benign	Het
Cela3a	T	C	4: 137,402,606	N235D	possibly damaging	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Cntnap1	G	T	11: 101,185,268	G993W	probably damaging	Het
Col9a1	A	G	1: 24,179,403		probably null	Het
Coro2b	G	T	9: 62,489,372	H29N	probably benign	Het
Dll3	C	T	7: 28,299,111	R143H	probably damaging	Het
Dsel	C	T	1: 111,861,573	G411S	probably damaging	Het
Dync1i1	T	A	6: 5,784,530	*114R	probably null	Het
Ecm2	T	C	13: 49,515,078	S86P	probably damaging	Het
Eif5	T	C	12: 111,540,290		probably benign	Het
Ets1	T	A	9: 32,733,032		probably null	Het
Exph5	A	G	9: 53,375,896	N1426D	possibly damaging	Het
Eya2	T	C	2: 165,687,666	F110L	probably benign	Het
Galnt5	A	T	2: 58,017,193	H556L	probably benign	Het
Glb1l3	A	T	9: 26,829,003	Y344N	probably benign	Het
Glrx3	C	A	7: 137,459,286	D216E	possibly damaging	Het
Gm45871	T	A	18: 90,591,375	C246S	probably damaging	Het
Gm8251	G	T	1: 44,059,496	P814Q	probably damaging	Het
Gm906	T	C	13: 50,245,744	I849V	probably benign	Het
Gstm4	A	G	3: 108,042,373	L137P	probably benign	Het
Hsd17b13	T	C	5: 103,968,750	T169A	probably damaging	Het
Hydin	A	C	8: 110,600,362	T4778P	probably benign	Het
Ifna15	A	G	4: 88,557,983	L88P	probably damaging	Het
Kcnab1	G	A	3: 65,376,531	R390H	probably benign	Het
Kng1	C	A	16: 23,067,787	H161N	possibly damaging	Het
Lamp5	T	C	2: 136,060,958	V199A	probably benign	Het
Lrig3	G	A	10: 126,009,966	V755M	probably damaging	Het
Mad1l1	C	T	5: 140,144,044	R412H	probably damaging	Het
March6	C	A	15: 31,486,359	C350F	probably benign	Het
Mastl	A	G	2: 23,133,389	S441P	probably damaging	Het
Mfsd13b	A	T	7: 120,991,728	M231L	probably benign	Het
Micalcl	T	C	7: 112,382,151	V444A	probably benign	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myo15	A	G	11: 60,477,961	M516V	probably benign	Het
Myo1b	A	T	1: 51,751,254	F1110L	probably damaging	Het
Nbr1	T	A	11: 101,569,321	L381*	probably null	Het
Nln	T	C	13: 104,050,847	K325E	probably damaging	Het
Nr4a3	T	G	4: 48,051,290	S15A	possibly damaging	Het
Nrp2	C	T	1: 62,745,504	P271S	probably benign	Het
Obox6	A	C	7: 15,834,646	L102V	possibly damaging	Het
Olfr1008	T	C	2: 85,689,837	M136T	probably damaging	Het
Olfr1208	T	C	2: 88,897,271	I109V	possibly damaging	Het
Olfr1241	T	C	2: 89,482,455	S227G	probably benign	Het
Olfr853	A	G	9: 19,537,099	M277T	probably damaging	Het
Pde10a	A	G	17: 8,967,462	H567R	probably damaging	Het
Pdgfra	C	T	5: 75,183,098	S760L	possibly damaging	Het
Pid1	T	A	1: 84,159,129	I94L	unknown	Het
Plekhn1	T	C	4: 156,222,671	H474R	probably benign	Het
Prcc	A	T	3: 87,869,681	S329T	possibly damaging	Het
Pros1	G	T	16: 62,919,523	R445L	probably damaging	Het
Pxdn	C	A	12: 30,012,261	H1370Q	probably benign	Het
Sgce	T	A	6: 4,694,106	R283S	probably damaging	Het
Slc25a20	T	G	9: 108,682,458		probably null	Het
Slc6a1	T	C	6: 114,311,818	V446A	probably damaging	Het
Slc6a4	C	G	11: 77,017,085	Y358*	probably null	Het
Sned1	A	C	1: 93,281,736	E857A	probably damaging	Het
Spdye4b	C	T	5: 143,202,390	R213C	possibly damaging	Het
Spry2	T	G	14: 105,893,512	E80A	probably damaging	Het
Stard9	G	A	2: 120,666,534	C142Y	probably benign	Het
Sync	A	T	4: 129,294,306	Q377L	probably benign	Het
Tdrd12	A	G	7: 35,485,692	C718R		Het
Tgoln1	G	C	6: 72,616,278	T73R	probably benign	Het
Tmbim1	T	C	1: 74,291,279	E185G	probably benign	Het
Tyk2	T	C	9: 21,108,034	M1031V	probably damaging	Het
Vmn1r71	C	T	7: 10,748,501	V87I	not run	Het
Vmn2r49	A	G	7: 9,986,814	V250A	probably benign	Het
Yipf3	A	C	17: 46,250,827	T187P	probably damaging	Het
Zfp148	G	T	16: 33,434,790	R50L	possibly damaging	Het
Zfp628	G	A	7: 4,921,818	G1013E	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
R1241:Flt1	UTSW	5	147599646	missense	probably damaging	1.00
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
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'- CATTTGGGGAATGACTGCTGAG -3'
(R):5'- GATGCTCCCTCTACCACAGATG -3'

Sequencing Primer
(F):5'- TGGGGAATGACTGCTGAGAAACG -3'
(R):5'- GGGAAGTGCGTTCATTAC -3'

Posted On

2019-09-13