Mutagenetix > Incidental Mutation

Incidental Mutation 'R0380:Flt1'

30919

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

038586-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0380 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

147498414-147662821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 147525382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 919 (S919P)

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: S919P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031653
Gene: ENSMUSG00000029648
AA Change: S919P

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

0.7897

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.6%
20x: 90.5%

Validation Efficiency

100% (58/58)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,538,500 (GRCm39)		probably null	Het
Abca14	A	T	7: 119,877,703 (GRCm39)	I1073L	probably benign	Het
Adamts17	C	T	7: 66,799,792 (GRCm39)	P1116L	probably benign	Het
Adgrb2	C	G	4: 129,901,624 (GRCm39)	P416R	probably damaging	Het
Ano4	A	G	10: 88,814,675 (GRCm39)	I671T	possibly damaging	Het
Aoc1l1	A	G	6: 48,952,773 (GRCm39)	I233V	probably benign	Het
Ap1g1	A	G	8: 110,529,796 (GRCm39)		probably benign	Het
Arhgap19	A	G	19: 41,761,576 (GRCm39)		probably benign	Het
Arhgap32	C	T	9: 32,157,773 (GRCm39)	R129W	probably damaging	Het
Atp10b	G	T	11: 43,116,424 (GRCm39)	A924S	probably damaging	Het
Ccdc180	T	A	4: 45,930,197 (GRCm39)		probably null	Het
Cckbr	A	G	7: 105,084,198 (GRCm39)	T311A	probably benign	Het
Cr2	C	T	1: 194,839,715 (GRCm39)	G947R	probably damaging	Het
Cyp2g1	T	A	7: 26,513,720 (GRCm39)		probably benign	Het
Dennd1c	G	A	17: 57,380,822 (GRCm39)	A210V	probably damaging	Het
Dscam	A	G	16: 96,857,810 (GRCm39)	Y67H	probably damaging	Het
Dsg2	T	A	18: 20,715,996 (GRCm39)	Y282*	probably null	Het
Epg5	T	C	18: 78,004,056 (GRCm39)	L688P	probably damaging	Het
Esr2	T	G	12: 76,170,065 (GRCm39)	E458A	possibly damaging	Het
Fat1	T	C	8: 45,463,160 (GRCm39)	S1326P	probably damaging	Het
Gpr12	T	A	5: 146,520,146 (GRCm39)	T259S	probably damaging	Het
Grm5	T	A	7: 87,723,584 (GRCm39)	C625S	possibly damaging	Het
H2-Q1	C	T	17: 35,542,054 (GRCm39)	H209Y	probably damaging	Het
Hcfc2	C	A	10: 82,564,272 (GRCm39)		probably benign	Het
Itgal	C	A	7: 126,909,923 (GRCm39)	Y495*	probably null	Het
Kbtbd3	T	A	9: 4,330,545 (GRCm39)	Y306*	probably null	Het
Kcns2	T	C	15: 34,839,318 (GRCm39)	F227S	possibly damaging	Het
Kif1a	T	A	1: 92,983,753 (GRCm39)		probably null	Het
Maml2	C	T	9: 13,532,396 (GRCm39)	R537*	probably null	Het
Muc4	G	A	16: 32,574,333 (GRCm39)	A928T	probably benign	Het
Nav3	A	G	10: 109,594,740 (GRCm39)		probably benign	Het
Neb	A	T	2: 52,122,214 (GRCm39)	M605K	probably damaging	Het
Or2c1	A	T	16: 3,656,849 (GRCm39)	D4V	probably benign	Het
Pcdhb3	T	G	18: 37,435,210 (GRCm39)	I392S	possibly damaging	Het
Prune2	A	G	19: 17,101,371 (GRCm39)	T2292A	probably damaging	Het
Rbbp8nl	A	T	2: 179,923,512 (GRCm39)	M108K	probably damaging	Het
Rbm25	A	G	12: 83,707,130 (GRCm39)	T259A	probably benign	Het
Recql	C	A	6: 142,315,156 (GRCm39)	R243L	probably damaging	Het
Rsf1	TGGCG	TGGCGACGGCGGCG	7: 97,229,112 (GRCm39)		probably benign	Het
Serpinb12	T	C	1: 106,878,551 (GRCm39)		probably null	Het
Slc16a14	T	A	1: 84,907,251 (GRCm39)	I8F	possibly damaging	Het
Spef1	G	T	2: 131,014,332 (GRCm39)		probably benign	Het
Tas2r103	A	G	6: 133,013,166 (GRCm39)	L300P	probably damaging	Het
Tas2r117	A	T	6: 132,780,551 (GRCm39)	R230*	probably null	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Thnsl2	A	T	6: 71,118,314 (GRCm39)	L38Q	probably damaging	Het
Tmem171	G	T	13: 98,828,535 (GRCm39)	T205K	possibly damaging	Het
Tmem232	A	T	17: 65,563,443 (GRCm39)	L650Q	probably benign	Het
Tpr	T	A	1: 150,288,698 (GRCm39)	D518E	probably benign	Het
Tsen54	T	C	11: 115,713,423 (GRCm39)	V442A	probably damaging	Het
Tshz3	A	T	7: 36,470,725 (GRCm39)	I905F	probably damaging	Het
Vmn1r66	C	T	7: 10,008,670 (GRCm39)	C121Y	probably benign	Het
Wdfy3	T	C	5: 102,096,832 (GRCm39)	Q322R	probably damaging	Het
Wdr64	T	C	1: 175,597,208 (GRCm39)		probably benign	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
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
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

Posted On

2013-04-24