Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03205:Flt1'

413109

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 #

IGL03205

Quality Score

Status

Chromosome

Chromosomal Location

147498414-147662821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 147636631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 118 (K118E)

Ref Sequence

ENSEMBL: ENSMUSP00000106158 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000031652

SMART Domains

Protein: ENSMUSP00000031652
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
Pfam:Ig_2	434	511	9.6e-3	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000031653
AA Change: K118E

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

SMART Domains

Protein: ENSMUSP00000031653
Gene: ENSMUSG00000029648
AA Change: K118E

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: K118E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106158
Gene: ENSMUSG00000029648
AA Change: K118E

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

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bsph2	A	T	7: 13,290,301 (GRCm39)	D120E	probably damaging	Het
Casp14	A	G	10: 78,549,173 (GRCm39)	*258Q	probably null	Het
Ccdc54	A	C	16: 50,411,254 (GRCm39)	F4C	possibly damaging	Het
Clcn4	C	T	7: 7,293,419 (GRCm39)	V475M	probably damaging	Het
D630045J12Rik	C	T	6: 38,124,194 (GRCm39)	R1586H	probably damaging	Het
Eml4	T	A	17: 83,761,873 (GRCm39)	S453R	probably damaging	Het
Kif20b	A	T	19: 34,936,863 (GRCm39)	E154D	probably damaging	Het
Meis2	C	T	2: 115,694,731 (GRCm39)	V471I	probably benign	Het
Naa16	G	A	14: 79,593,952 (GRCm39)	T371I	possibly damaging	Het
Naa20	A	G	2: 145,745,251 (GRCm39)	T8A	possibly damaging	Het
Or13a28	G	A	7: 140,218,073 (GRCm39)	C153Y	possibly damaging	Het
Pla2g6	G	A	15: 79,201,985 (GRCm39)	P62L	probably damaging	Het
Pmel	A	G	10: 128,552,317 (GRCm39)	T384A	probably benign	Het
Ryr3	T	C	2: 112,462,487 (GRCm39)	Y4863C	probably damaging	Het
Slc4a4	G	A	5: 89,297,189 (GRCm39)	V510I	probably benign	Het
Smad3	T	A	9: 63,575,148 (GRCm39)	Y23F	probably benign	Het
Sugt1	G	A	14: 79,834,241 (GRCm39)	A81T	probably damaging	Het
Svs3b	A	T	2: 164,098,181 (GRCm39)	F47I	probably damaging	Het
Thbs4	T	C	13: 92,899,282 (GRCm39)	D571G	probably damaging	Het
Trav15-1-dv6-1	T	C	14: 53,797,485 (GRCm39)	Y45H	probably damaging	Het
Zbtb5	A	T	4: 44,994,949 (GRCm39)	M145K	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
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

2016-08-02