Mutagenetix > Incidental Mutation

Incidental Mutation 'R7473:Flt1'

579261

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7473 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

147561604-147726011 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 147594595 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 853 (S853P)

Ref Sequence

ENSEMBL: ENSMUSP00000031653 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031653
AA Change: S853P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031653
Gene: ENSMUSG00000029648
AA Change: S853P

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

Meta Mutation Damage Score

0.3026

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (80/83)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,267,115	S368P	possibly damaging	Het
4930539E08Rik	G	A	17: 28,905,324	R335W	probably damaging	Het
4933434E20Rik	T	C	3: 90,058,653		probably null	Het
A630095N17Rik	G	A	1: 75,232,031	T15I	unknown	Het
Actr1b	A	G	1: 36,709,819	V12A	probably benign	Het
Add1	A	G	5: 34,619,353	T473A	possibly damaging	Het
Akap11	A	T	14: 78,513,888	V353E		Het
Alcam	G	A	16: 52,452,519		probably benign	Het
Alpi	A	G	1: 87,099,647		probably null	Het
Ap3s2	A	G	7: 79,916,031	F49S	probably damaging	Het
Arpc1a	A	G	5: 145,101,076	K174E	probably benign	Het
Bbox1	A	T	2: 110,265,498	S374T	probably damaging	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Bmp2k	A	G	5: 97,057,012	N402S	probably benign	Het
Bmper	C	A	9: 23,375,630	A284D	probably benign	Het
Bpifb2	A	T	2: 153,881,196	H124L	possibly damaging	Het
Bsn	C	T	9: 108,112,250	R2101Q	probably damaging	Het
Cacng1	T	A	11: 107,716,192	D67V	probably damaging	Het
Catsperg1	A	G	7: 29,195,478	S565P	probably damaging	Het
Cep126	C	T	9: 8,101,778	E252K	probably damaging	Het
Cep55	G	A	19: 38,069,936	E326K	probably damaging	Het
Cfap58	T	A	19: 47,974,625	Y491*	probably null	Het
Cpeb2	T	C	5: 43,277,505	S747P		Het
Cryz	T	A	3: 154,606,520	S85T	probably benign	Het
D2hgdh	T	C	1: 93,838,078	V367A	probably damaging	Het
Dgkh	T	C	14: 78,599,043	N703S	probably benign	Het
Dnah11	T	C	12: 117,903,176	S4077G	probably benign	Het
Dnah14	A	G	1: 181,752,139	H3079R	probably damaging	Het
Dnah2	T	A	11: 69,491,658	T1209S	probably damaging	Het
Dnmt3b	A	G	2: 153,684,450	D804G	probably damaging	Het
Ell2	A	G	13: 75,750,035	E143G	probably damaging	Het
Exoc2	A	G	13: 30,822,630		probably null	Het
Fahd2a	A	T	2: 127,440,456	I131N	probably damaging	Het
Fer1l5	A	G	1: 36,421,608	N1976D	possibly damaging	Het
Frg2f1	C	T	4: 119,530,793	V170I	probably benign	Het
Gcn1l1	G	A	5: 115,581,804	V373M	probably benign	Het
Gm10696	T	A	3: 94,176,202	K101*	probably null	Het
Gm19965	A	G	1: 116,821,872	T428A	unknown	Het
Gm4792	A	G	10: 94,293,868	I124T	unknown	Het
Grik2	A	T	10: 49,113,522	C804S	probably benign	Het
Heatr6	T	A	11: 83,781,391	I1075N	probably damaging	Het
Hunk	G	A	16: 90,453,700	A211T	probably damaging	Het
Ighe	T	C	12: 113,271,356	I395V	probably damaging	Het
Ino80e	A	T	7: 126,857,312	S104T	probably damaging	Het
Inpp4a	A	G	1: 37,369,453	Y305C	probably benign	Het
Insrr	T	A	3: 87,804,531		probably null	Het
Itgae	T	G	11: 73,140,678	D1073E	possibly damaging	Het
Klf11	G	T	12: 24,655,142		probably null	Het
Lrguk	A	T	6: 34,029,695	K80M	probably benign	Het
Map2	A	T	1: 66,415,458	D1169V	probably damaging	Het
Mpst	G	T	15: 78,413,526	C248F	probably damaging	Het
Myo9a	C	A	9: 59,895,244	Q2005K	probably benign	Het
Nfatc4	C	T	14: 55,831,964	T649I	probably benign	Het
Nmt1	A	G	11: 103,046,400	R88G	probably benign	Het
Nqo1	G	A	8: 107,403,097		probably benign	Het
Nudt2	T	G	4: 41,477,576	M19R	probably benign	Het
Olfr102	T	A	17: 37,313,631	Y251F	probably benign	Het
Olfr1497	C	T	19: 13,795,162	V150M	probably benign	Het
Olfr517	T	A	7: 108,868,269	K295M	probably damaging	Het
P2ry1	T	A	3: 61,004,088	I216N	probably damaging	Het
Pcx	T	A	19: 4,619,561	L823*	probably null	Het
Pkhd1	A	G	1: 20,549,756	V880A	probably damaging	Het
Plcb1	A	T	2: 135,344,276	N721I	probably damaging	Het
Prdm15	T	C	16: 97,821,846	K269E	possibly damaging	Het
Prl7b1	A	G	13: 27,602,013	V224A	possibly damaging	Het
Reln	A	G	5: 21,929,127	V2601A	probably benign	Het
Rspo4	G	A	2: 151,873,073	R210Q	unknown	Het
Slc7a5	A	T	8: 121,888,423	D228E	probably benign	Het
Tas2r115	A	G	6: 132,737,251	S246P	probably damaging	Het
Tenm4	A	G	7: 96,774,146	Y716C	probably damaging	Het
Tgfb3	T	C	12: 86,062,149	K269E	possibly damaging	Het
Thoc6	A	G	17: 23,670,867	I27T	probably benign	Het
Tigd5	G	A	15: 75,909,899	G37S	probably benign	Het
Tmem259	C	T	10: 79,979,672	D102N	possibly damaging	Het
Tpo	T	G	12: 30,092,590	I712L	probably benign	Het
Ttn	G	A	2: 76,870,548	T21M	possibly damaging	Het
Utp20	A	T	10: 88,820,710		probably null	Het
Xrcc5	A	G	1: 72,312,589	D106G	probably damaging	Het
Xrn1	T	A	9: 95,979,141	F451L	probably benign	Het
Zar1l	T	A	5: 150,517,738	D141V	probably damaging	Het
Zfp27	A	T	7: 29,895,899	C214S	possibly damaging	Het
Znfx1	A	T	2: 167,038,824	C1211S	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
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
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'- CGGGTCGTTTCATTGGCAAG -3'
(R):5'- TCAAAGATGCGCACTTTGC -3'

Sequencing Primer
(F):5'- CATTGGCAAGGTTTATTCTGAGC -3'
(R):5'- GCACTTTGCGTAACACATGC -3'

Posted On

2019-10-07