Mutagenetix > Incidental Mutation

Incidental Mutation 'R5732:Flt1'

451483

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

043347-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5732 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

147498414-147662821 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 147571293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 671 (Y671*)

Ref Sequence

ENSEMBL: ENSMUSP00000031653 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000031653
AA Change: Y671*

SMART Domains

Protein: ENSMUSP00000031653
Gene: ENSMUSG00000029648
AA Change: Y671*

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

SMART Domains

Protein: ENSMUSP00000106158
Gene: ENSMUSG00000029648

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125272

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.8%
20x: 94.5%

Validation Efficiency

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
Acaa1b	T	A	9: 118,977,462 (GRCm39)	M407L	possibly damaging	Het
Acsf2	T	C	11: 94,460,768 (GRCm39)		probably benign	Het
Apob	A	G	12: 8,060,353 (GRCm39)	D2945G	probably benign	Het
Atg2a	T	C	19: 6,307,490 (GRCm39)	Y1475H	probably damaging	Het
Capn5	A	G	7: 97,778,593 (GRCm39)	L342P	possibly damaging	Het
Ccdc152	A	G	15: 3,321,860 (GRCm39)		probably null	Het
Ccdc7b	A	G	8: 129,799,195 (GRCm39)	M91V	possibly damaging	Het
Cd3g	T	C	9: 44,884,929 (GRCm39)	E105G	possibly damaging	Het
Cdadc1	A	G	14: 59,834,360 (GRCm39)	L44P	probably damaging	Het
Cdh23	A	G	10: 60,167,096 (GRCm39)	V1852A	possibly damaging	Het
Cdx2	T	C	5: 147,238,833 (GRCm39)	Q252R	possibly damaging	Het
Cps1	A	T	1: 67,196,923 (GRCm39)	I325F	probably benign	Het
Dctn1	G	A	6: 83,174,931 (GRCm39)		probably null	Het
Dcun1d3	T	C	7: 119,457,256 (GRCm39)	K152R	probably benign	Het
Dhx35	G	A	2: 158,673,705 (GRCm39)	V379M	probably damaging	Het
Fam171a2	T	C	11: 102,330,807 (GRCm39)	E224G	possibly damaging	Het
Fndc3b	T	C	3: 27,515,922 (GRCm39)	Y628C	probably damaging	Het
Foxj3	A	T	4: 119,443,008 (GRCm39)	D144V	probably damaging	Het
Gp2	A	G	7: 119,048,331 (GRCm39)	V429A	probably damaging	Het
Hydin	T	A	8: 111,178,690 (GRCm39)	I1095N	probably benign	Het
Kat2a	A	G	11: 100,599,066 (GRCm39)	F571S	probably damaging	Het
Kcnq1	C	A	7: 142,702,493 (GRCm39)		probably benign	Het
Letm2	A	C	8: 26,077,341 (GRCm39)	S250A	possibly damaging	Het
Llgl1	T	C	11: 60,600,286 (GRCm39)	V545A	probably benign	Het
Lrfn3	T	C	7: 30,059,031 (GRCm39)	D398G	probably benign	Het
Lrig1	G	T	6: 94,676,520 (GRCm39)	C49*	probably null	Het
Mug1	A	G	6: 121,855,452 (GRCm39)	I929V	probably benign	Het
Naaa	G	A	5: 92,411,314 (GRCm39)	T291I	probably damaging	Het
Ndufaf1	G	A	2: 119,490,521 (GRCm39)	Q180*	probably null	Het
Nr3c1	A	T	18: 39,548,752 (GRCm39)	H741Q	probably damaging	Het
Nsun5	T	C	5: 135,400,204 (GRCm39)	L109P	probably damaging	Het
Pacsin3	A	G	2: 91,090,605 (GRCm39)	E18G	probably damaging	Het
Rpgr	G	A	X: 10,032,511 (GRCm39)	P857L	probably benign	Het
Siglec1	G	A	2: 130,916,188 (GRCm39)	T1254M	probably benign	Het
Slc35a4	A	T	18: 36,815,394 (GRCm39)	T75S	probably benign	Het
Slc52a2	T	C	15: 76,425,274 (GRCm39)	I434T	probably benign	Het
Slco2a1	C	T	9: 102,927,455 (GRCm39)	T116I	probably damaging	Het
Snrpd2	T	C	7: 18,886,538 (GRCm39)		probably null	Het
Tbc1d32	T	A	10: 55,964,489 (GRCm39)	L903F	probably damaging	Het
Tex10	G	T	4: 48,460,046 (GRCm39)	T435K	probably damaging	Het
Tmem266	T	C	9: 55,288,120 (GRCm39)	S66P	probably damaging	Het
Top2b	A	T	14: 16,400,106 (GRCm38)	E581D	possibly damaging	Het
Uggt1	A	T	1: 36,200,852 (GRCm39)		probably null	Het
Wdr47	T	A	3: 108,540,472 (GRCm39)	Y622*	probably null	Het
Zfp644	A	T	5: 106,784,989 (GRCm39)	H519Q	probably damaging	Het
Zfp687	T	C	3: 94,918,528 (GRCm39)	M415V	possibly 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
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
R7688:Flt1	UTSW	5	147,613,135 (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'- CTGTCGGATAGCAGGTAAGAGC -3'
(R):5'- GCCGTAGCTTTAATCAGTGAAAAG -3'

Sequencing Primer
(F):5'- TAGCAGGTAAGAGCAAGCACC -3'
(R):5'- AGAAAAATCGACAAATGCATGTTG -3'

Posted On

2017-01-03