Mutagenetix > Incidental Mutations

Incidental Mutation 'R4909:Flt1'

434647

Institutional Source

Beutler Lab

Gene Symbol

Flt1

Ensembl Gene

ENSMUSG00000029648

Gene Name

FMS-like tyrosine kinase 1

Synonyms

Flt-1, VEGFR1, vascular endothelial growth factor receptor-1, sFlt1, VEGFR-1

MMRRC Submission

042511-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4909 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

147561604-147726011 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 147683939 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 132 (A132S)

Ref Sequence

ENSEMBL: ENSMUSP00000106158 (fasta)

Gene Model

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

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: A132S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000031653
Gene: ENSMUSG00000029648
AA Change: A132S

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: A132S

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106158
Gene: ENSMUSG00000029648
AA Change: A132S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (101/104)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030C10Rik	A	T	12: 20,815,088		noncoding transcript	Het
A830010M20Rik	C	T	5: 107,507,310	Q992*	probably null	Het
Aars	G	A	8: 111,055,083	G929D	probably damaging	Het
Ablim2	C	T	5: 35,802,422	R73C	possibly damaging	Het
Actn4	A	T	7: 28,898,657	L506Q	probably damaging	Het
Adam26a	A	T	8: 43,570,438	F5Y	probably benign	Het
Adamts5	G	A	16: 85,900,066	Q68*	probably null	Het
Adcy9	A	G	16: 4,298,754	I871T	probably benign	Het
Ak5	A	T	3: 152,655,877	L136H	probably damaging	Het
Ap1g2	A	G	14: 55,105,026		probably null	Het
Ap2a1	G	A	7: 44,906,381	T355M	probably damaging	Het
Ap3s2	T	C	7: 79,915,241	D60G	possibly damaging	Het
Apold1	G	A	6: 134,983,595	R4Q	probably benign	Het
Atp13a5	G	T	16: 29,334,028	Q207K	possibly damaging	Het
BC035947	A	C	1: 78,498,029	I622S	probably damaging	Het
Bmper	G	T	9: 23,377,725	V339F	probably benign	Het
C1ra	A	G	6: 124,522,334	D493G	probably damaging	Het
C3	C	T	17: 57,226,830		probably null	Het
Cabp4	T	A	19: 4,137,121	I209F	possibly damaging	Het
Cacna1s	A	T	1: 136,079,604	H453L	probably damaging	Het
Camk2g	A	G	14: 20,792,584	V32A	probably benign	Het
Ccdc175	G	A	12: 72,159,753	R240C	probably damaging	Het
Cdk13	C	T	13: 17,772,403	S590N	possibly damaging	Het
Cfap45	A	T	1: 172,529,876	T24S	probably benign	Het
Clca1	T	G	3: 145,024,563	K174Q	probably damaging	Het
Col1a2	G	A	6: 4,529,058		probably benign	Het
Colgalt1	A	T	8: 71,620,633	I323F	possibly damaging	Het
Cpeb3	T	C	19: 37,174,233	S248G	possibly damaging	Het
Cpeb3	A	T	19: 37,174,659	S106T	probably damaging	Het
Ctcfl	C	T	2: 173,095,398	A576T	probably benign	Het
Cyp4f16	T	G	17: 32,550,321	V395G	possibly damaging	Het
Dchs1	C	T	7: 105,766,255	G605S	probably damaging	Het
Egflam	A	T	15: 7,219,629	F903I	probably damaging	Het
Eif5a	G	A	11: 69,917,485	A62V	possibly damaging	Het
Fam217a	A	G	13: 34,910,406	S609P	probably damaging	Het
Fhad1	T	A	4: 141,985,511	I206F	probably benign	Het
Fras1	T	A	5: 96,708,758	M2000K	probably benign	Het
Frmd5	C	T	2: 121,591,653		probably null	Het
Gle1	T	C	2: 29,936,080	L57P	probably benign	Het
Glrx3	C	A	7: 137,445,036	N52K	probably damaging	Het
Grin3b	A	G	10: 79,977,104	*1004W	probably null	Het
Hectd4	T	A	5: 121,263,891	F347L	probably benign	Het
Htra1	G	A	7: 130,985,072	V462I	probably benign	Het
Itga11	A	G	9: 62,755,299	Y518C	probably damaging	Het
Krtap15	T	C	16: 88,829,365	F88L	probably benign	Het
Ktn1	A	T	14: 47,706,460	R866W	probably damaging	Het
Lamb1	G	A	12: 31,288,281	R483H	probably damaging	Het
Megf6	C	T	4: 154,265,391	R983C	probably damaging	Het
Mybpc3	T	A	2: 91,134,812	D1075E	probably benign	Het
Myo7b	A	T	18: 31,964,436	N1792K	probably benign	Het
Nabp2	A	T	10: 128,401,687		probably benign	Het
Neil3	A	G	8: 53,638,893	C7R	probably damaging	Het
Nxpe2	T	A	9: 48,319,597	I491F	possibly damaging	Het
Obscn	A	G	11: 59,061,465	V4292A	possibly damaging	Het
Ogfod3	A	G	11: 121,197,492	S139P	probably damaging	Het
Olfr374	A	G	8: 72,109,581	N5S	probably damaging	Het
Olfr418	A	T	1: 173,270,979	D268V	probably damaging	Het
Olfr682-ps1	C	A	7: 105,128,228	V70L	probably benign	Het
Olfr800	A	G	10: 129,660,720	I305V	probably benign	Het
Oog2	T	C	4: 144,195,099	I211T	possibly damaging	Het
Oosp1	T	C	19: 11,688,716	D70G	probably benign	Het
Padi3	T	C	4: 140,795,626	D345G	probably damaging	Het
Pcyt2	A	G	11: 120,615,420	F71L	probably benign	Het
Pi4k2b	T	C	5: 52,754,629		probably benign	Het
Pigr	A	C	1: 130,848,458	T577P	possibly damaging	Het
Pirb	G	A	7: 3,719,362	Q161*	probably null	Het
Pnlip	A	G	19: 58,676,240	E204G	possibly damaging	Het
Pop7	G	T	5: 137,501,899	D57E	probably benign	Het
Ppfia4	A	T	1: 134,332,501	I8N	probably damaging	Het
Pprc1	A	G	19: 46,064,319	T759A	probably damaging	Het
Prom1	T	C	5: 44,045,552	N213S	probably benign	Het
Prop1	GCTTCACT	GCTTCACTTCACT	11: 50,952,036		probably null	Het
Prop1	A	T	11: 50,952,045	L105H	probably damaging	Het
Pwp2	A	T	10: 78,182,494	M121K	possibly damaging	Het
Rap1gds1	A	T	3: 138,983,748	M161K	possibly damaging	Het
Rps6kb2	T	A	19: 4,157,003		probably benign	Het
Rxfp1	A	G	3: 79,644,802	S731P	probably benign	Het
Scfd1	T	C	12: 51,390,412	V137A	probably benign	Het
Slc6a15	G	A	10: 103,404,414	D333N	probably damaging	Het
Sqor	T	C	2: 122,785,181	V74A	possibly damaging	Het
Stil	T	A	4: 115,024,225	Y655*	probably null	Het
Syt14	A	T	1: 192,898,859	I468K	probably damaging	Het
Tbc1d31	T	C	15: 57,962,265		probably null	Het
Tspyl5	A	T	15: 33,686,849	S317T	probably damaging	Het
Ttf1	C	T	2: 29,064,656	H11Y	possibly damaging	Het
Ttf2	T	C	3: 100,954,315	T620A	probably damaging	Het
Usp32	G	A	11: 85,055,772	Q269*	probably null	Het
Vsig10	T	A	5: 117,338,243	V254E	probably benign	Het
Wdr6	C	T	9: 108,572,988	A1114T	probably benign	Het
Zfp280d	A	G	9: 72,331,432	S63G	probably damaging	Het
Zfp607b	A	G	7: 27,703,796	D559G	probably benign	Het
Zfp934	T	C	13: 62,517,954	H291R	probably damaging	Het

Other mutations in Flt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Flt1	APN	5	147580300	critical splice donor site	probably null
IGL00469:Flt1	APN	5	147603605	missense	probably damaging	0.99
IGL00897:Flt1	APN	5	147589854	missense	probably benign	0.25
IGL01111:Flt1	APN	5	147578336	missense	probably damaging	1.00
IGL01154:Flt1	APN	5	147576156	missense	possibly damaging	0.63
IGL01744:Flt1	APN	5	147571461	missense	probably benign	0.01
IGL01973:Flt1	APN	5	147683889	missense	probably benign	0.01
IGL02079:Flt1	APN	5	147568831	splice site	probably benign
IGL02143:Flt1	APN	5	147578436	missense	probably benign	0.00
IGL02156:Flt1	APN	5	147681741	missense	probably damaging	0.99
IGL02345:Flt1	APN	5	147582626	missense	probably benign	0.20
IGL02548:Flt1	APN	5	147639248	missense	probably benign	0.00
IGL02631:Flt1	APN	5	147673574	nonsense	probably null
IGL02686:Flt1	APN	5	147588602	missense	probably damaging	1.00
IGL02938:Flt1	APN	5	147678299	missense	possibly damaging	0.47
IGL03057:Flt1	APN	5	147681924	nonsense	probably null
IGL03196:Flt1	APN	5	147615127	critical splice donor site	probably null
IGL03205:Flt1	APN	5	147699821	missense	probably benign	0.00
IGL03255:Flt1	APN	5	147588521	splice site	probably benign
flywheels	UTSW	5	147599646	missense	probably damaging	1.00
BB008:Flt1	UTSW	5	147588572	missense	probably damaging	1.00
BB018:Flt1	UTSW	5	147588572	missense	probably damaging	1.00
IGL02837:Flt1	UTSW	5	147655170	missense	probably benign	0.32
PIT4402001:Flt1	UTSW	5	147678239	missense	probably damaging	1.00
R0013:Flt1	UTSW	5	147571014	splice site	probably benign
R0380:Flt1	UTSW	5	147588572	missense	probably damaging	1.00
R0448:Flt1	UTSW	5	147566394	splice site	probably benign
R0789:Flt1	UTSW	5	147639483	missense	probably damaging	1.00
R1005:Flt1	UTSW	5	147681885	missense	probably damaging	0.99
R1241:Flt1	UTSW	5	147599646	missense	probably damaging	1.00
R1302:Flt1	UTSW	5	147564240	missense	possibly damaging	0.93
R1411:Flt1	UTSW	5	147580316	missense	probably damaging	1.00
R1615:Flt1	UTSW	5	147639288	missense	probably damaging	1.00
R1634:Flt1	UTSW	5	147676430	missense	probably damaging	1.00
R1749:Flt1	UTSW	5	147655119	missense	probably benign	0.00
R1768:Flt1	UTSW	5	147672709	missense	probably damaging	1.00
R1972:Flt1	UTSW	5	147655093	splice site	probably benign
R2074:Flt1	UTSW	5	147599606	missense	possibly damaging	0.82
R2081:Flt1	UTSW	5	147639422	missense	probably damaging	1.00
R2864:Flt1	UTSW	5	147594621	missense	possibly damaging	0.68
R2865:Flt1	UTSW	5	147594621	missense	possibly damaging	0.68
R3740:Flt1	UTSW	5	147599593	missense	probably damaging	1.00
R3820:Flt1	UTSW	5	147700017	splice site	probably benign
R4089:Flt1	UTSW	5	147564241	missense	probably benign	0.03
R4299:Flt1	UTSW	5	147683907	missense	probably benign	0.00
R4570:Flt1	UTSW	5	147594613	missense	probably damaging	1.00
R4812:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R4853:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R4865:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R4900:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R4906:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R4907:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R5072:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R5073:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R5074:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R5218:Flt1	UTSW	5	147681928	missense	probably damaging	1.00
R5547:Flt1	UTSW	5	147655138	missense	probably damaging	1.00
R5731:Flt1	UTSW	5	147678152	missense	probably benign	0.16
R5732:Flt1	UTSW	5	147634483	nonsense	probably null
R5804:Flt1	UTSW	5	147580437	splice site	probably null
R6107:Flt1	UTSW	5	147603593	missense	probably benign	0.15
R6440:Flt1	UTSW	5	147564305	missense	possibly damaging	0.79
R6453:Flt1	UTSW	5	147683941	missense	possibly damaging	0.80
R6539:Flt1	UTSW	5	147578376	missense	probably benign	0.27
R7068:Flt1	UTSW	5	147673634	missense	probably damaging	1.00
R7112:Flt1	UTSW	5	147603569	missense	probably damaging	1.00
R7195:Flt1	UTSW	5	147603576	missense	probably damaging	1.00
R7255:Flt1	UTSW	5	147580406	missense	probably damaging	1.00
R7347:Flt1	UTSW	5	147580381	missense	probably damaging	1.00
R7469:Flt1	UTSW	5	147603569	missense	probably damaging	1.00
R7473:Flt1	UTSW	5	147594595	missense	probably damaging	1.00
R7663:Flt1	UTSW	5	147655120	missense	probably benign
R7688:Flt1	UTSW	5	147676325	missense	probably benign
R7729:Flt1	UTSW	5	147700367	missense	probably benign	0.00
R7931:Flt1	UTSW	5	147588572	missense	probably damaging	1.00
R8051:Flt1	UTSW	5	147582691	missense	probably benign	0.02
R8275:Flt1	UTSW	5	147678147	missense	probably damaging	0.99
X0064:Flt1	UTSW	5	147673613	missense	probably damaging	1.00
Z1088:Flt1	UTSW	5	147681649	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- ACGAGTCTACTGAGAAGCCC -3'
(R):5'- AGAAACTACACTGCTTTGGGG -3'

Sequencing Primer
(F):5'- GCCCAGAGAGAAAGTTTTTCC -3'
(R):5'- ACTACACTGCTTTGGGGGACAG -3'

Posted On

2016-10-20