Mutagenetix > Incidental Mutation

Incidental Mutation 'R2074:Flt1'

227419

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

040079-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2074 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

147561604-147726011 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 147599606 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 808 (D808E)

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: D808E

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031653
Gene: ENSMUSG00000029648
AA Change: D808E

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	T	4: 42,974,171	D1168V	probably benign	Het
4930430A15Rik	T	C	2: 111,200,418	E382G	probably damaging	Het
9130011E15Rik	A	T	19: 45,965,381	I188K	probably damaging	Het
Ace	C	T	11: 105,976,623	Q484*	probably null	Het
Ackr3	T	C	1: 90,213,981	I54T	probably damaging	Het
Aco1	G	A	4: 40,183,605	G508S	probably damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Ankef1	T	C	2: 136,545,738	S192P	possibly damaging	Het
Ankrd16	T	G	2: 11,789,748	C315G	possibly damaging	Het
Ankzf1	T	C	1: 75,196,243	S328P	probably damaging	Het
Aqp2	A	G	15: 99,583,100	I176V	probably benign	Het
Arhgap45	A	G	10: 80,027,180	Y730C	probably damaging	Het
Asxl2	A	G	12: 3,493,779	E316G	probably damaging	Het
Btbd17	A	T	11: 114,791,952		probably null	Het
Calu	A	G	6: 29,372,615	Y263C	probably damaging	Het
Ccdc122	T	C	14: 77,068,951		probably null	Het
Cenpf	T	C	1: 189,656,901	K1578R	probably damaging	Het
Cep120	A	G	18: 53,719,312	V498A	possibly damaging	Het
Ces1a	T	A	8: 93,048,075	N12Y	probably benign	Het
Chmp1a	A	T	8: 123,208,022	M65K	probably damaging	Het
Cnot1	G	T	8: 95,739,833	T1592K	possibly damaging	Het
Cps1	T	A	1: 67,204,638	I1091N	probably benign	Het
Dhx32	T	C	7: 133,721,292	N731S	probably benign	Het
Dhx33	G	A	11: 70,999,843	R177W	probably damaging	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Dnah10	T	C	5: 124,814,674	S3259P	probably damaging	Het
Dnah7a	T	C	1: 53,457,696	I3134V	probably benign	Het
Dock3	A	G	9: 106,993,463	F584S	possibly damaging	Het
Dtnb	A	G	12: 3,781,273	T658A	probably benign	Het
Duox2	T	A	2: 122,295,158	S323C	probably damaging	Het
Elovl3	A	T	19: 46,132,167	E33V	probably damaging	Het
Enpp5	T	C	17: 44,085,373	F392S	probably benign	Het
Eogt	T	C	6: 97,131,376	T235A	probably benign	Het
Etv3	T	C	3: 87,536,219	V370A	probably benign	Het
Ewsr1	C	T	11: 5,071,555	R466H	unknown	Het
Fam208a	T	A	14: 27,461,213	I543K	probably benign	Het
Fcgbp	G	A	7: 28,120,389	G2514S	probably damaging	Het
Glg1	C	T	8: 111,168,671	G836E	probably damaging	Het
Gm17334	A	G	11: 53,772,828		probably benign	Het
Gpbp1	A	T	13: 111,453,407	D51E	probably benign	Het
Il12rb2	C	G	6: 67,360,552	C115S	probably damaging	Het
Il1rl1	T	C	1: 40,462,044	S527P	probably damaging	Het
Ireb2	A	G	9: 54,881,449	D69G	probably benign	Het
Kif5a	T	C	10: 127,245,369	D232G	probably damaging	Het
M1ap	A	G	6: 82,981,882	I165V	probably benign	Het
Mff	T	A	1: 82,751,700	L287H	probably damaging	Het
Mmp27	A	G	9: 7,577,739	M311V	possibly damaging	Het
Mpped2	T	A	2: 106,744,802	Y77*	probably null	Het
Mybbp1a	G	A	11: 72,441,445	S21N	probably benign	Het
Obscn	G	C	11: 59,069,281	I3253M	probably damaging	Het
Obscn	T	C	11: 59,132,652	D633G	probably damaging	Het
Olfr1247	A	G	2: 89,609,478	V208A	probably benign	Het
Olfr1404	A	T	1: 173,215,810	D53V	probably damaging	Het
Olr1	C	T	6: 129,502,094	V54I	probably benign	Het
Phlpp2	T	C	8: 109,928,492	S605P	possibly damaging	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 105,376,452		probably benign	Het
Prss8	C	A	7: 127,927,094	R148L	possibly damaging	Het
Psg27	T	C	7: 18,560,417	D355G	probably damaging	Het
Rabgef1	C	A	5: 130,187,561	Q52K	probably benign	Het
Rnf6	C	T	5: 146,210,906	R434H	probably damaging	Het
Rpl26	A	G	11: 68,903,273	E88G	probably benign	Het
Rpn1	T	A	6: 88,100,962	L460Q	probably damaging	Het
Sap130	T	A	18: 31,648,279	I165N	probably damaging	Het
Sash1	A	G	10: 8,756,697	V258A	probably damaging	Het
Scarb1	G	T	5: 125,294,143	N288K	probably benign	Het
Sec16a	A	G	2: 26,440,239	I588T	probably damaging	Het
Shank2	C	A	7: 144,409,540	S295Y	probably damaging	Het
Slc15a3	T	C	19: 10,857,299	S515P	probably damaging	Het
Slc25a13	A	T	6: 6,114,017	M285K	probably benign	Het
Slc39a11	A	G	11: 113,463,974	I143T	probably null	Het
Smarcd2	A	T	11: 106,265,307	L42*	probably null	Het
Smc3	A	G	19: 53,631,533	D620G	probably benign	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Taar4	A	C	10: 23,961,173	Q227P	probably benign	Het
Tecta	G	T	9: 42,337,279	Y1937*	probably null	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Tmem130	T	A	5: 144,755,274	T107S	possibly damaging	Het
Tmem132d	T	C	5: 128,269,131	D109G	probably damaging	Het
Tmem81	A	G	1: 132,507,906	Y150C	probably damaging	Het
Tnrc18	C	T	5: 142,759,706		probably null	Het
Trim43a	A	G	9: 88,586,094	K256R	possibly damaging	Het
Trpm6	A	G	19: 18,877,739	T1921A	probably damaging	Het
Tubb3	C	T	8: 123,421,270	A314V	probably damaging	Het
Ube3b	A	C	5: 114,415,255	N896T	probably benign	Het
Unc80	G	A	1: 66,679,744		probably null	Het
Upb1	A	G	10: 75,424,513	T134A	probably damaging	Het
Vmn2r15	A	T	5: 109,286,753	M695K	possibly damaging	Het
Wwc1	G	T	11: 35,889,353	D258E	possibly damaging	Het
Zfp619	T	A	7: 39,534,761	Y72N	probably benign	Het
Zfp672	G	T	11: 58,316,636	H286Q	possibly 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
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'- CGGCAACAGACTGCATTTCC -3'
(R):5'- TGATGCAAAGCAGTAGATGTTGTC -3'

Sequencing Primer
(F):5'- GCAACAGACTGCATTTCCTCTGG -3'
(R):5'- TGTGTGTCTCTATTTCTCAG -3'

Posted On

2014-09-17