Mutagenetix > Incidental Mutation

Incidental Mutation 'R6440:Flt1'

518968

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

044578-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6440 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

147498414-147662821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 147501115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1306 (D1306V)

Ref Sequence

ENSEMBL: ENSMUSP00000031653 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031653
AA Change: D1306V

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031653
Gene: ENSMUSG00000029648
AA Change: D1306V

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

0.0919

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.7%

Validation Efficiency

100% (40/40)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	C	17: 56,101,744 (GRCm39)		probably null	Het
Adgrl3	C	T	5: 81,942,341 (GRCm39)	Q684*	probably null	Het
Ahi1	T	A	10: 20,835,981 (GRCm39)		probably benign	Het
Aox1	A	G	1: 58,133,631 (GRCm39)	T1070A	probably damaging	Het
B3gnt9	C	T	8: 105,980,531 (GRCm39)		probably null	Het
C3ar1	G	T	6: 122,827,467 (GRCm39)	A250E	probably damaging	Het
Caprin2	A	G	6: 148,771,143 (GRCm39)	F284L	probably damaging	Het
Cdc25a	T	C	9: 109,710,566 (GRCm39)	I90T	probably benign	Het
Cdh9	A	T	15: 16,823,509 (GRCm39)	T164S	probably benign	Het
Ces2a	C	T	8: 105,467,954 (GRCm39)	A528V	probably benign	Het
Cyp2c70	T	C	19: 40,145,250 (GRCm39)	N402S	possibly damaging	Het
F3	A	G	3: 121,518,686 (GRCm39)	E50G	probably damaging	Het
Fli1	A	T	9: 32,335,197 (GRCm39)	S412T	probably benign	Het
Ggt7	T	C	2: 155,340,731 (GRCm39)	D424G	probably damaging	Het
Grm7	A	T	6: 111,230,981 (GRCm39)	N468I	probably damaging	Het
Htr5a	T	A	5: 28,055,870 (GRCm39)	V287E	probably damaging	Het
Map3k21	T	C	8: 126,637,876 (GRCm39)	V154A	probably damaging	Het
Muc16	A	G	9: 18,552,655 (GRCm39)	V4546A	probably benign	Het
Ncbp1	A	G	4: 46,147,516 (GRCm39)	Y121C	probably damaging	Het
Nckap1l	C	A	15: 103,379,659 (GRCm39)	Y315*	probably null	Het
Ntpcr	T	A	8: 126,471,981 (GRCm39)	S64T	probably damaging	Het
Or1e1c	A	T	11: 73,266,173 (GRCm39)	E202D	probably benign	Het
Or6c215	A	G	10: 129,637,837 (GRCm39)	S186P	probably damaging	Het
Or7e175	T	C	9: 20,048,490 (GRCm39)	F26S	probably damaging	Het
Pate9	T	A	9: 36,453,168 (GRCm39)	M1L	probably benign	Het
Pde4dip	A	G	3: 97,674,902 (GRCm39)	C5R	probably damaging	Het
Pgap2	T	A	7: 101,886,594 (GRCm39)		probably null	Het
Pik3r6	T	C	11: 68,424,522 (GRCm39)	W376R	probably benign	Het
Plekha2	T	C	8: 25,578,413 (GRCm39)	Y29C	probably damaging	Het
Pms1	T	C	1: 53,234,180 (GRCm39)	K779E	probably damaging	Het
Prss16	A	G	13: 22,187,330 (GRCm39)	V98A	probably damaging	Het
Robo2	C	T	16: 73,713,010 (GRCm39)	D1287N	probably benign	Het
Sgsm1	A	G	5: 113,426,997 (GRCm39)		probably null	Het
Slc40a1	A	T	1: 45,964,422 (GRCm39)	M1K	probably null	Het
Smo	A	G	6: 29,756,813 (GRCm39)	H437R	possibly damaging	Het
Sult3a1	T	C	10: 33,746,198 (GRCm39)	Y173H	possibly damaging	Het
Svep1	T	A	4: 58,116,555 (GRCm39)	R898S	possibly damaging	Het
Synpo2l	A	G	14: 20,718,244 (GRCm39)	V7A	probably damaging	Het
Thsd1	C	T	8: 22,748,569 (GRCm39)	A427V	possibly damaging	Het
Tnfrsf17	G	A	16: 11,137,754 (GRCm39)	G164S	probably benign	Het
Zfp235	A	G	7: 23,840,040 (GRCm39)	K153R	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
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'- ACACGTCACTAACTGGGGTTAC -3'
(R):5'- TAGGCAGTCATTAGTCTTTGCC -3'

Sequencing Primer
(F):5'- CACTAACTGGGGTTACATTCTTG -3'
(R):5'- TAGTCTTTGCCCAGAAAACATCAGG -3'

Posted On

2018-05-24