Mutagenetix > Incidental Mutation

Incidental Mutation 'R7068:Flt1'

548678

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 #

R7068 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

147561604-147726011 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 147673634 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 393 (I393N)

Ref Sequence

ENSEMBL: ENSMUSP00000106158 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031653
AA Change: I393N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031653
Gene: ENSMUSG00000029648
AA Change: I393N

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 damaging
Transcript: ENSMUST00000110529
AA Change: I393N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106158
Gene: ENSMUSG00000029648
AA Change: I393N

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	A	G	7: 119,622,580	H24R	probably benign	Het
Ago2	A	T	15: 73,146,450	F46L	probably damaging	Het
Amd1	A	G	10: 40,290,512	F123L	probably benign	Het
Arhgef10	T	C	8: 14,958,639	F546L	probably damaging	Het
Asic2	G	A	11: 81,152,255	H71Y	probably benign	Het
Asphd1	A	G	7: 126,948,678	V151A	probably benign	Het
Best3	T	C	10: 116,988,638	V3A	probably damaging	Het
C4b	A	G	17: 34,733,477	L1196P	probably damaging	Het
Cd22	A	G	7: 30,878,079	V3A	probably benign	Het
Cdkl3	T	C	11: 52,011,327		probably null	Het
Clcnka	A	T	4: 141,387,110	V631E	probably damaging	Het
Cmya5	A	G	13: 93,092,697	V1961A	possibly damaging	Het
Dnah14	A	G	1: 181,769,790	E3559G	probably benign	Het
Emsy	A	T	7: 98,610,761	D39E	probably benign	Het
Fam126a	A	G	5: 23,964,795	S519P	possibly damaging	Het
Fbxl16	G	T	17: 25,819,511	V477F	possibly damaging	Het
Gabra4	A	T	5: 71,572,059	N433K	probably benign	Het
Gatad1	T	C	5: 3,643,540	R210G	probably benign	Het
Ghsr	T	A	3: 27,371,837	V14D	probably benign	Het
Glb1l	A	G	1: 75,202,737	Y183H	probably damaging	Het
Ighv3-4	T	C	12: 114,253,654	T106A	probably damaging	Het
Ik	T	G	18: 36,755,465	F439V	possibly damaging	Het
Itih5	T	C	2: 10,249,304	S789P	probably damaging	Het
Kcnj8	T	C	6: 142,566,239	D214G	probably damaging	Het
Kdm5a	C	A	6: 120,430,215	H1464N	probably benign	Het
Klb	A	T	5: 65,379,340	Y671F	probably damaging	Het
Kremen2	C	A	17: 23,741,885	R421L	possibly damaging	Het
Mroh9	T	A	1: 163,039,181	D662V	probably damaging	Het
Mtmr12	T	G	15: 12,257,670	M278R	probably null	Het
Ndufa8	T	C	2: 36,044,435	M44V	possibly damaging	Het
Nedd4l	A	T	18: 65,205,651	R695S	probably damaging	Het
Nuf2	G	A	1: 169,522,419	P97S	probably damaging	Het
Olfr1018	T	C	2: 85,823,052	V27A	probably benign	Het
Olfr206	T	C	16: 59,345,204	T166A	possibly damaging	Het
Olfr310	A	C	7: 86,269,537	L84R	probably damaging	Het
P4ha2	A	G	11: 54,110,994	T33A	probably benign	Het
Parp1	A	G	1: 180,588,668	H544R	probably damaging	Het
Plec	A	G	15: 76,177,769	L2678P	probably damaging	Het
Rad1	T	A	15: 10,490,293	Y85*	probably null	Het
Sema6d	A	G	2: 124,657,821	I309V	probably benign	Het
Skint2	T	C	4: 112,624,351	V137A	probably damaging	Het
Slc23a3	T	C	1: 75,133,233	N130S	probably benign	Het
Slc35f1	T	C	10: 53,062,500	F176S	probably damaging	Het
Slc44a2	T	A	9: 21,320,848	Y10N	probably benign	Het
Smarcc1	A	G	9: 110,185,884	T506A	probably damaging	Het
Smchd1	A	T	17: 71,387,092	S1219R	probably benign	Het
Smco1	A	G	16: 32,274,111	N200S	probably benign	Het
Srcap	A	G	7: 127,541,943	T1571A	probably benign	Het
Strip2	C	T	6: 29,932,208	T459I	probably benign	Het
Tarbp1	C	T	8: 126,427,034	A1560T	probably damaging	Het
Tcl1b1	T	A	12: 105,159,693		probably benign	Het
Tdrd5	T	C	1: 156,284,271	E436G	probably damaging	Het
Trim31	T	A	17: 36,898,516	C55S	probably damaging	Het
Tsr1	G	T	11: 74,903,919	E467*	probably null	Het
Tulp4	T	A	17: 6,185,289	D178E	probably damaging	Het
Vmn1r30	A	G	6: 58,435,010	V279A	possibly damaging	Het
Vmn2r98	A	G	17: 19,065,313	R132G	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
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
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'- CTGACTTTCGAACCAGAAAACGATC -3'
(R):5'- CAGTACTTAGTGCCCAAAGATTTTG -3'

Sequencing Primer
(F):5'- AACGATCATTAACTTTGCCCTGGG -3'
(R):5'- AGTGCTGATACCCAAAGACTC -3'

Posted On

2019-05-13