Mutagenetix > Incidental Mutation

Incidental Mutation 'R0448:Flt1'

39437

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

038648-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0448 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

147561604-147726011 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 147566394 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000031653
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
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

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.1%

Validation Efficiency

100% (74/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	T	6: 48,933,057	S643C	probably damaging	Het
9530053A07Rik	T	C	7: 28,140,235	I491T	probably benign	Het
Abcc5	G	A	16: 20,399,937	R232C	probably damaging	Het
Adam9	A	G	8: 24,964,910	S732P	probably damaging	Het
Add2	G	A	6: 86,092,919	V140I	probably benign	Het
Ahi1	G	A	10: 20,972,075	G461S	probably damaging	Het
Arhgef7	A	G	8: 11,819,659	T432A	possibly damaging	Het
Arsi	T	C	18: 60,917,302	I419T	probably damaging	Het
Brca1	G	A	11: 101,508,221	P1515L	possibly damaging	Het
Brcc3	T	A	X: 75,450,041	L222*	probably null	Het
Brpf3	A	T	17: 28,806,036	T28S	probably benign	Het
Cdc20b	T	A	13: 113,078,657	V253E	probably damaging	Het
Cnot6l	T	A	5: 96,080,046	S443C	probably benign	Het
Copg1	G	A	6: 87,904,926	A587T	probably benign	Het
Crebrf	A	G	17: 26,743,102	D391G	probably benign	Het
Crocc	A	T	4: 141,042,191	D283E	probably damaging	Het
Cryga	T	C	1: 65,103,159	N25S	probably benign	Het
Csnk1g1	T	C	9: 65,980,948	F90L	possibly damaging	Het
Cyp2j6	A	G	4: 96,545,728	V115A	probably benign	Het
Cyp3a11	T	C	5: 145,862,394	I328V	probably benign	Het
Dchs1	C	A	7: 105,765,927	E683D	probably benign	Het
Dnah9	T	C	11: 65,918,713		probably benign	Het
Dqx1	T	C	6: 83,060,345	S330P	probably damaging	Het
Epg5	A	G	18: 78,023,365	Y2160C	probably damaging	Het
Ercc5	T	C	1: 44,173,940	L742P	probably damaging	Het
Gm9513	T	A	9: 36,477,116	M79K	probably benign	Het
Grip2	A	G	6: 91,779,213	S498P	probably damaging	Het
H2-T22	A	G	17: 36,042,386	L14P	possibly damaging	Het
Hephl1	C	T	9: 15,076,926	G629S	probably damaging	Het
Hsdl2	T	A	4: 59,606,523	M162K	unknown	Het
Kcnh8	C	A	17: 52,977,620		probably null	Het
Krt76	T	C	15: 101,890,647	Q201R	probably damaging	Het
Lrpprc	A	T	17: 84,770,894	Y319N	probably benign	Het
Lrrk2	T	G	15: 91,709,305	I489R	probably damaging	Het
Mboat1	G	T	13: 30,202,410	D136Y	probably damaging	Het
Mcmdc2	T	C	1: 9,940,542	*682Q	probably null	Het
Msx2	C	A	13: 53,468,395	R193L	probably damaging	Het
Nfatc4	T	G	14: 55,831,654	D625E	possibly damaging	Het
Nup153	T	C	13: 46,717,181	E86G	probably benign	Het
Olfr1295	T	A	2: 111,565,214	I77F	probably benign	Het
Olfr130	G	T	17: 38,067,672	R167L	probably benign	Het
Pard3b	T	C	1: 62,166,469	L474P	probably damaging	Het
Pggt1b	A	T	18: 46,262,972		probably benign	Het
Pik3r2	A	G	8: 70,772,044		probably benign	Het
Prr14	A	G	7: 127,474,726		probably benign	Het
Rcbtb2	T	C	14: 73,178,429		probably benign	Het
Rufy2	G	A	10: 63,004,736	D429N	probably benign	Het
S1pr5	T	A	9: 21,244,207	T308S	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Serpina12	A	G	12: 104,038,095	S93P	probably benign	Het
Serpinb1b	T	G	13: 33,089,692	H123Q	probably benign	Het
Sftpc	C	T	14: 70,522,680	V46I	probably benign	Het
Skint8	T	A	4: 111,936,890	V159D	probably damaging	Het
Slc25a11	T	C	11: 70,645,579	N134S	probably benign	Het
Slc25a24	T	C	3: 109,157,016		probably benign	Het
Sorl1	C	G	9: 42,004,088	V1282L	probably damaging	Het
Sptan1	T	A	2: 30,026,810	I2170N	probably damaging	Het
Syne4	A	G	7: 30,314,920		probably benign	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Tg	C	A	15: 66,764,442	P626Q	probably damaging	Het
Thoc6	T	A	17: 23,669,576	D196V	probably damaging	Het
Tpi1	A	G	6: 124,814,103	F57S	probably damaging	Het
Tril	A	G	6: 53,817,808	*810Q	probably null	Het
Trrap	T	A	5: 144,839,567	V2972D	possibly damaging	Het
Ttn	T	C	2: 76,720,939	M31370V	probably damaging	Het
Ttn	A	T	2: 76,761,280	V12688E	probably damaging	Het
Txndc11	A	G	16: 11,091,761	F307S	probably damaging	Het
Vmn1r40	C	T	6: 89,714,660	S153L	probably benign	Het
Vmn2r95	A	G	17: 18,451,743	T581A	possibly damaging	Het
Wdtc1	A	G	4: 133,297,500	F462S	probably damaging	Het
Zfp101	A	G	17: 33,382,321	S154P	possibly damaging	Het
Zmym6	A	G	4: 127,108,694	N481D	probably benign	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
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
R4909: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
R8434:Flt1	UTSW	5	147639443	missense	probably damaging	0.97
R8442:Flt1	UTSW	5	147576173	missense	probably damaging	1.00
R8756:Flt1	UTSW	5	147639414	missense	probably benign	0.07
R8855:Flt1	UTSW	5	147570872	missense	probably benign	0.00
R8855:Flt1	UTSW	5	147681650	missense	probably damaging	1.00
R9165:Flt1	UTSW	5	147615237	missense	probably damaging	0.99
R9240:Flt1	UTSW	5	147681866	missense	probably benign
R9439:Flt1	UTSW	5	147578397	missense	probably damaging	1.00
R9658:Flt1	UTSW	5	147588567	missense	probably damaging	0.97
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'- AGGCCCCATATTTCTCAGGCTCAG -3'
(R):5'- CGATGTCAGTACAAGGAACAGGCAC -3'

Sequencing Primer
(F):5'- AGCCTGCCTGTTACACGAAG -3'
(R):5'- TTTGCTGAGGGCAGCAC -3'

Posted On

2013-05-23