Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01744:Flt1'

152974

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01744

Quality Score

Status

Chromosome

Chromosomal Location

147498414-147662821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 147508271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1161 (N1161S)

Ref Sequence

ENSEMBL: ENSMUSP00000031653 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031653
AA Change: N1161S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000031653
Gene: ENSMUSG00000029648
AA Change: N1161S

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

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	C	7: 12,284,459 (GRCm39)	I102T	possibly damaging	Het
4933412E24Rik	C	A	15: 59,887,424 (GRCm39)	A339S	possibly damaging	Het
Ackr2	A	G	9: 121,738,185 (GRCm39)	T187A	probably benign	Het
Adam28	A	G	14: 68,844,956 (GRCm39)	V777A	probably benign	Het
Add3	T	A	19: 53,227,861 (GRCm39)	D515E	probably damaging	Het
Aire	C	A	10: 77,872,557 (GRCm39)	E354*	probably null	Het
AW551984	T	C	9: 39,502,568 (GRCm39)	K670R	probably benign	Het
Bahcc1	T	C	11: 120,162,563 (GRCm39)	V287A	probably benign	Het
Brca1	T	C	11: 101,415,002 (GRCm39)	N1044S	possibly damaging	Het
Bub1b	T	A	2: 118,467,230 (GRCm39)	I851N	probably damaging	Het
Ceacam11	A	T	7: 17,707,323 (GRCm39)	I36F	possibly damaging	Het
Copa	A	G	1: 171,940,756 (GRCm39)	E714G	probably benign	Het
Cth	A	T	3: 157,630,572 (GRCm39)	N32K	probably benign	Het
Cyp2a5	T	A	7: 26,540,434 (GRCm39)	M349K	probably damaging	Het
D130052B06Rik	A	G	11: 33,573,966 (GRCm39)	S188G	unknown	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Hip1	T	C	5: 135,573,917 (GRCm39)		probably benign	Het
Mapk11	A	G	15: 89,031,046 (GRCm39)		probably benign	Het
Mtif2	A	G	11: 29,494,417 (GRCm39)		probably benign	Het
Myo1f	C	A	17: 33,802,654 (GRCm39)		probably benign	Het
Nipsnap1	G	A	11: 4,839,912 (GRCm39)	R211H	probably damaging	Het
Or52ab4	A	G	7: 102,987,435 (GRCm39)	H58R	probably damaging	Het
Or6c35	T	C	10: 129,169,326 (GRCm39)	I192T	probably benign	Het
Pcdh1	A	T	18: 38,336,302 (GRCm39)	I111N	probably damaging	Het
Piezo2	T	A	18: 63,175,859 (GRCm39)	I1841F	probably damaging	Het
Pirb	G	T	7: 3,720,175 (GRCm39)	Y399*	probably null	Het
Ppp1r36	A	T	12: 76,486,006 (GRCm39)	N388I	possibly damaging	Het
Prr16	A	G	18: 51,436,061 (GRCm39)	D180G	possibly damaging	Het
Prss39	A	G	1: 34,541,280 (GRCm39)		probably null	Het
Spopfm2	T	A	3: 94,083,544 (GRCm39)	K89M	probably damaging	Het
Trank1	T	A	9: 111,178,431 (GRCm39)	V373D	probably damaging	Het
Ubn1	A	G	16: 4,889,923 (GRCm39)	E186G	probably damaging	Het
Zmym2	T	C	14: 57,184,029 (GRCm39)	V997A	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
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
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

Posted On

2014-02-04