Mutagenetix > Incidental Mutation

Incidental Mutation 'R7688:Flt1'

593199

Institutional Source

Beutler Lab

Gene Symbol

Flt1

Ensembl Gene

ENSMUSG00000029648

Gene Name

FMS-like tyrosine kinase 1

Synonyms

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

MMRRC Submission

045752-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7688 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

147498414-147662821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 147613135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 369 (V369I)

Ref Sequence

ENSEMBL: ENSMUSP00000031653 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031653] [ENSMUST00000110529]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031653
AA Change: V369I

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

SMART Domains

Protein: ENSMUSP00000031653
Gene: ENSMUSG00000029648
AA Change: V369I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110529
AA Change: V369I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000106158
Gene: ENSMUSG00000029648
AA Change: V369I

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

Meta Mutation Damage Score

0.0713

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (47/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bag6	T	C	17: 35,365,868 (GRCm39)	Y1102H	probably damaging	Het
Cldn24	G	A	8: 48,275,740 (GRCm39)	C188Y	probably damaging	Het
Dennd4c	T	C	4: 86,713,377 (GRCm39)	W443R	probably damaging	Het
Dmxl1	T	A	18: 50,088,938 (GRCm39)	C2806S	probably benign	Het
Epb41l2	T	C	10: 25,355,036 (GRCm39)	Y449H	probably damaging	Het
Ets1	T	A	9: 32,607,720 (GRCm39)	I14N	probably benign	Het
F11	A	T	8: 45,703,127 (GRCm39)	F188I	probably damaging	Het
Fam13a	C	T	6: 58,912,692 (GRCm39)	V654I	probably benign	Het
Focad	T	A	4: 88,096,370 (GRCm39)	Y251N	probably damaging	Het
Gm5150	A	G	3: 16,017,747 (GRCm39)	S175P	probably benign	Het
Hnrnpul2	T	A	19: 8,797,994 (GRCm39)	S117T	probably benign	Het
Kcnj5	A	G	9: 32,234,264 (GRCm39)	V17A	probably benign	Het
Kctd1	T	G	18: 15,107,255 (GRCm39)	T737P	probably benign	Het
Kif14	T	C	1: 136,422,392 (GRCm39)	V894A	probably damaging	Het
Klhl12	A	T	1: 134,416,768 (GRCm39)	T497S	probably benign	Het
Klhl6	C	A	16: 19,765,881 (GRCm39)	V574L	probably damaging	Het
Lama1	A	T	17: 68,068,623 (GRCm39)	D774V		Het
Leng1	G	A	7: 3,665,809 (GRCm39)	P176L	probably benign	Het
Lig1	T	C	7: 13,023,389 (GRCm39)	L196P	probably benign	Het
Macrod1	C	A	19: 7,174,230 (GRCm39)	Y245*	probably null	Het
Mcf2l	T	A	8: 12,998,130 (GRCm39)	I6N	possibly damaging	Het
Megf11	A	G	9: 64,599,146 (GRCm39)	D687G	possibly damaging	Het
Muc4	A	T	16: 32,570,278 (GRCm39)	H446L	possibly damaging	Het
Oasl2	A	T	5: 115,035,909 (GRCm39)	I62F	probably benign	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Or14a257	A	G	7: 86,138,183 (GRCm39)	V192A	probably benign	Het
Or4b12	A	T	2: 90,095,959 (GRCm39)	F272I	probably damaging	Het
Or52e8	C	A	7: 104,624,332 (GRCm39)	A291S	possibly damaging	Het
Pdcl2	T	C	5: 76,465,770 (GRCm39)	N150S	probably benign	Het
Pfkfb3	A	G	2: 11,497,450 (GRCm39)	Y54H	probably damaging	Het
Rab25	A	T	3: 88,452,270 (GRCm39)		probably null	Het
Slc22a18	G	A	7: 143,033,560 (GRCm39)	G104S	probably damaging	Het
Slc44a5	T	A	3: 153,679,437 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,757,561 (GRCm39)	Y517C	probably damaging	Het
Spata18	A	G	5: 73,809,005 (GRCm39)	N26S	probably benign	Het
Tas2r115	T	A	6: 132,714,643 (GRCm39)	S103C	probably damaging	Het
Tigd2	T	A	6: 59,187,382 (GRCm39)	M83K	probably damaging	Het
Tnxb	T	A	17: 34,890,880 (GRCm39)	C408S	probably benign	Het
Trbj2-3	T	A	6: 41,520,159 (GRCm39)	S1R	possibly damaging	Het
Triobp	T	C	15: 78,845,311 (GRCm39)		probably null	Het
Uaca	A	G	9: 60,781,409 (GRCm39)	Q1349R	probably benign	Het
Ube2j2	T	A	4: 156,040,885 (GRCm39)	L171I	probably damaging	Het
Usp17ld	C	A	7: 102,899,982 (GRCm39)	G317W	probably damaging	Het
Vinac1	G	A	2: 128,880,964 (GRCm39)	Q321*	probably null	Het
Vmn2r72	T	A	7: 85,404,098 (GRCm39)	D31V	probably benign	Het
Zfp317	T	G	9: 19,559,251 (GRCm39)	H488Q	probably damaging	Het

Other mutations in Flt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Flt1	APN	5	147,517,110 (GRCm39)	critical splice donor site	probably null
IGL00469:Flt1	APN	5	147,540,415 (GRCm39)	missense	probably damaging	0.99
IGL00897:Flt1	APN	5	147,526,664 (GRCm39)	missense	probably benign	0.25
IGL01111:Flt1	APN	5	147,515,146 (GRCm39)	missense	probably damaging	1.00
IGL01154:Flt1	APN	5	147,512,966 (GRCm39)	missense	possibly damaging	0.63
IGL01744:Flt1	APN	5	147,508,271 (GRCm39)	missense	probably benign	0.01
IGL01973:Flt1	APN	5	147,620,699 (GRCm39)	missense	probably benign	0.01
IGL02079:Flt1	APN	5	147,505,641 (GRCm39)	splice site	probably benign
IGL02143:Flt1	APN	5	147,515,246 (GRCm39)	missense	probably benign	0.00
IGL02156:Flt1	APN	5	147,618,551 (GRCm39)	missense	probably damaging	0.99
IGL02345:Flt1	APN	5	147,519,436 (GRCm39)	missense	probably benign	0.20
IGL02548:Flt1	APN	5	147,576,058 (GRCm39)	missense	probably benign	0.00
IGL02631:Flt1	APN	5	147,610,384 (GRCm39)	nonsense	probably null
IGL02686:Flt1	APN	5	147,525,412 (GRCm39)	missense	probably damaging	1.00
IGL02938:Flt1	APN	5	147,615,109 (GRCm39)	missense	possibly damaging	0.47
IGL03057:Flt1	APN	5	147,618,734 (GRCm39)	nonsense	probably null
IGL03196:Flt1	APN	5	147,551,937 (GRCm39)	critical splice donor site	probably null
IGL03205:Flt1	APN	5	147,636,631 (GRCm39)	missense	probably benign	0.00
IGL03255:Flt1	APN	5	147,525,331 (GRCm39)	splice site	probably benign
flywheels	UTSW	5	147,536,456 (GRCm39)	missense	probably damaging	1.00
BB008:Flt1	UTSW	5	147,525,382 (GRCm39)	missense	probably damaging	1.00
BB018:Flt1	UTSW	5	147,525,382 (GRCm39)	missense	probably damaging	1.00
IGL02837:Flt1	UTSW	5	147,591,980 (GRCm39)	missense	probably benign	0.32
PIT4402001:Flt1	UTSW	5	147,615,049 (GRCm39)	missense	probably damaging	1.00
R0013:Flt1	UTSW	5	147,507,824 (GRCm39)	splice site	probably benign
R0380:Flt1	UTSW	5	147,525,382 (GRCm39)	missense	probably damaging	1.00
R0448:Flt1	UTSW	5	147,503,204 (GRCm39)	splice site	probably benign
R0789:Flt1	UTSW	5	147,576,293 (GRCm39)	missense	probably damaging	1.00
R1005:Flt1	UTSW	5	147,618,695 (GRCm39)	missense	probably damaging	0.99
R1241:Flt1	UTSW	5	147,536,456 (GRCm39)	missense	probably damaging	1.00
R1302:Flt1	UTSW	5	147,501,050 (GRCm39)	missense	possibly damaging	0.93
R1411:Flt1	UTSW	5	147,517,126 (GRCm39)	missense	probably damaging	1.00
R1615:Flt1	UTSW	5	147,576,098 (GRCm39)	missense	probably damaging	1.00
R1634:Flt1	UTSW	5	147,613,240 (GRCm39)	missense	probably damaging	1.00
R1749:Flt1	UTSW	5	147,591,929 (GRCm39)	missense	probably benign	0.00
R1768:Flt1	UTSW	5	147,609,519 (GRCm39)	missense	probably damaging	1.00
R1972:Flt1	UTSW	5	147,591,903 (GRCm39)	splice site	probably benign
R2074:Flt1	UTSW	5	147,536,416 (GRCm39)	missense	possibly damaging	0.82
R2081:Flt1	UTSW	5	147,576,232 (GRCm39)	missense	probably damaging	1.00
R2864:Flt1	UTSW	5	147,531,431 (GRCm39)	missense	possibly damaging	0.68
R2865:Flt1	UTSW	5	147,531,431 (GRCm39)	missense	possibly damaging	0.68
R3740:Flt1	UTSW	5	147,536,403 (GRCm39)	missense	probably damaging	1.00
R3820:Flt1	UTSW	5	147,636,827 (GRCm39)	splice site	probably benign
R4089:Flt1	UTSW	5	147,501,051 (GRCm39)	missense	probably benign	0.03
R4299:Flt1	UTSW	5	147,620,717 (GRCm39)	missense	probably benign	0.00
R4570:Flt1	UTSW	5	147,531,423 (GRCm39)	missense	probably damaging	1.00
R4812:Flt1	UTSW	5	147,620,749 (GRCm39)	missense	probably benign	0.30
R4853:Flt1	UTSW	5	147,620,749 (GRCm39)	missense	probably benign	0.30
R4865:Flt1	UTSW	5	147,620,749 (GRCm39)	missense	probably benign	0.30
R4900:Flt1	UTSW	5	147,620,749 (GRCm39)	missense	probably benign	0.30
R4906:Flt1	UTSW	5	147,620,749 (GRCm39)	missense	probably benign	0.30
R4907:Flt1	UTSW	5	147,620,749 (GRCm39)	missense	probably benign	0.30
R4909:Flt1	UTSW	5	147,620,749 (GRCm39)	missense	probably benign	0.30
R5072:Flt1	UTSW	5	147,620,749 (GRCm39)	missense	probably benign	0.30
R5073:Flt1	UTSW	5	147,620,749 (GRCm39)	missense	probably benign	0.30
R5074:Flt1	UTSW	5	147,620,749 (GRCm39)	missense	probably benign	0.30
R5218:Flt1	UTSW	5	147,618,738 (GRCm39)	missense	probably damaging	1.00
R5547:Flt1	UTSW	5	147,591,948 (GRCm39)	missense	probably damaging	1.00
R5731:Flt1	UTSW	5	147,614,962 (GRCm39)	missense	probably benign	0.16
R5732:Flt1	UTSW	5	147,571,293 (GRCm39)	nonsense	probably null
R5804:Flt1	UTSW	5	147,517,247 (GRCm39)	splice site	probably null
R6107:Flt1	UTSW	5	147,540,403 (GRCm39)	missense	probably benign	0.15
R6440:Flt1	UTSW	5	147,501,115 (GRCm39)	missense	possibly damaging	0.79
R6453:Flt1	UTSW	5	147,620,751 (GRCm39)	missense	possibly damaging	0.80
R6539:Flt1	UTSW	5	147,515,186 (GRCm39)	missense	probably benign	0.27
R7068:Flt1	UTSW	5	147,610,444 (GRCm39)	missense	probably damaging	1.00
R7112:Flt1	UTSW	5	147,540,379 (GRCm39)	missense	probably damaging	1.00
R7195:Flt1	UTSW	5	147,540,386 (GRCm39)	missense	probably damaging	1.00
R7255:Flt1	UTSW	5	147,517,216 (GRCm39)	missense	probably damaging	1.00
R7347:Flt1	UTSW	5	147,517,191 (GRCm39)	missense	probably damaging	1.00
R7469:Flt1	UTSW	5	147,540,379 (GRCm39)	missense	probably damaging	1.00
R7473:Flt1	UTSW	5	147,531,405 (GRCm39)	missense	probably damaging	1.00
R7663:Flt1	UTSW	5	147,591,930 (GRCm39)	missense	probably benign
R7729:Flt1	UTSW	5	147,637,177 (GRCm39)	missense	probably benign	0.00
R7931:Flt1	UTSW	5	147,525,382 (GRCm39)	missense	probably damaging	1.00
R8051:Flt1	UTSW	5	147,519,501 (GRCm39)	missense	probably benign	0.02
R8275:Flt1	UTSW	5	147,614,957 (GRCm39)	missense	probably damaging	0.99
R8434:Flt1	UTSW	5	147,576,253 (GRCm39)	missense	probably damaging	0.97
R8442:Flt1	UTSW	5	147,512,983 (GRCm39)	missense	probably damaging	1.00
R8756:Flt1	UTSW	5	147,576,224 (GRCm39)	missense	probably benign	0.07
R8855:Flt1	UTSW	5	147,618,460 (GRCm39)	missense	probably damaging	1.00
R8855:Flt1	UTSW	5	147,507,682 (GRCm39)	missense	probably benign	0.00
R9165:Flt1	UTSW	5	147,552,047 (GRCm39)	missense	probably damaging	0.99
R9240:Flt1	UTSW	5	147,618,676 (GRCm39)	missense	probably benign
R9439:Flt1	UTSW	5	147,515,207 (GRCm39)	missense	probably damaging	1.00
R9658:Flt1	UTSW	5	147,525,377 (GRCm39)	missense	probably damaging	0.97
X0064:Flt1	UTSW	5	147,610,423 (GRCm39)	missense	probably damaging	1.00
Z1088:Flt1	UTSW	5	147,618,459 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- GCAAGCCTCTCAACTCTTGC -3'
(R):5'- GCGTGCATCTCCTCTTAGTG -3'

Sequencing Primer
(F):5'- TACCTACCCCTGGGCACTG -3'
(R):5'- CTTAGTGAGGGGGTGAGCTCAC -3'

Posted On

2019-11-12