Mutagenetix > Incidental Mutations

Incidental Mutation 'R7257:Flt4'

564351

Institutional Source

Beutler Lab

Gene Symbol

Flt4

Ensembl Gene

ENSMUSG00000020357

Gene Name

FMS-like tyrosine kinase 4

Synonyms

VEGFR-3, Flt-4, VEGFR3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49609263-49652739 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49626009 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 208 (T208A)

Ref Sequence

ENSEMBL: ENSMUSP00000020617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020617]

Predicted Effect

probably benign
Transcript: ENSMUST00000020617
AA Change: T208A

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020617
Gene: ENSMUSG00000020357
AA Change: T208A

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	36	133	3.73e0	SMART
IG	237	328	3.15e-10	SMART
IG	341	419	4.5e0	SMART
IG	430	552	8.46e-2	SMART
IGc2	569	660	1.29e-6	SMART
IGc2	690	755	2.48e-17	SMART
transmembrane domain	776	798	N/A	INTRINSIC
TyrKc	845	1169	2.2e-134	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (77/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a targeted null mutation show growth retardation, vascular abnormalities, severe anemia and die from cardiovascular failure at embryonic day 9.5. Heterozygotes for another mutation show abdominal chylous ascites, abnormal lymphaticvessels, and lymphedema. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	T	6: 88,839,452	V120E	probably benign	Het
Acot11	G	A	4: 106,758,402	T284M	probably damaging	Het
Adk	G	T	14: 21,052,671	K11N	probably damaging	Het
Akr1c14	T	A	13: 4,088,966	N316K	probably benign	Het
AL732309.1	A	T	2: 25,245,839	V121D	probably benign	Het
Amh	C	A	10: 80,806,653	Q257K	probably benign	Het
Antxrl	T	G	14: 34,065,849	H276Q	probably benign	Het
Atp5o	G	A	16: 91,926,867	T105M	probably damaging	Het
Atp5s	T	C	12: 69,741,669	I114T	probably damaging	Het
Atxn2	T	G	5: 121,785,817	N734K	possibly damaging	Het
B3gat3	T	A	19: 8,925,738	V153D	probably benign	Het
Brd2	A	G	17: 34,113,822	V528A	probably damaging	Het
Camk2g	T	C	14: 20,747,839	S335G	probably benign	Het
Cbln2	T	A	18: 86,716,734	W211R	probably damaging	Het
Cry2	A	T	2: 92,412,981	I505N	possibly damaging	Het
Ddx55	T	A	5: 124,560,721	C249S	possibly damaging	Het
Dglucy	A	G	12: 100,842,738	T232A	probably damaging	Het
Dhx32	A	G	7: 133,759,477	Y76H	probably benign	Het
Dock7	T	A	4: 98,973,412	N1356I	unknown	Het
Dock8	T	A	19: 25,127,085	N710K	probably benign	Het
Dync1i2	T	A	2: 71,249,356	N391K	possibly damaging	Het
Ect2	A	G	3: 27,138,535	S420P	probably damaging	Het
Efcab5	T	A	11: 77,137,779	E242V	probably damaging	Het
Fam83g	T	A	11: 61,684,753	Y74N	probably damaging	Het
Fbxo34	T	A	14: 47,500,872		probably null	Het
Fxyd5	T	A	7: 31,035,151	H183L	unknown	Het
Gpr150	T	G	13: 76,056,466	D120A	probably benign	Het
Grm7	A	G	6: 110,646,118	Y84C	probably damaging	Het
Ighmbp2	A	G	19: 3,266,405	S562P	probably damaging	Het
Itga7	A	G	10: 128,944,413	Y530C	possibly damaging	Het
Itpr3	T	A	17: 27,118,561	D2448E	probably benign	Het
Mmp17	C	A	5: 129,595,633	H216Q	probably benign	Het
Mns1	C	T	9: 72,452,815	R416W	probably damaging	Het
Mog	A	G	17: 37,023,127	S25P	unknown	Het
Myh2	A	G	11: 67,181,150	K568R	possibly damaging	Het
Myh7	A	T	14: 54,972,490		probably null	Het
Mymk	A	T	2: 27,067,368	W79R	probably damaging	Het
Ncoa4	T	G	14: 32,177,369	L623R	probably damaging	Het
Oca2	G	A	7: 56,279,538		probably benign	Het
Odam	A	C	5: 87,887,545	S123R	probably benign	Het
Olfr1155	A	G	2: 87,943,571	F19S	probably damaging	Het
Olfr263	A	G	13: 21,133,257	T161A	probably benign	Het
Olfr292	T	A	7: 86,694,804	M116K	probably damaging	Het
Olfr583	T	C	7: 103,051,630	F111L	probably benign	Het
Olfr765	C	T	10: 129,046,455	V203M	probably benign	Het
Olfr816	T	A	10: 129,912,287		probably benign	Het
Ovch2	C	T	7: 107,794,433	C162Y	probably damaging	Het
Padi1	C	A	4: 140,829,471	G142C	probably damaging	Het
Pcdhga4	A	G	18: 37,687,398	I667V	probably damaging	Het
Pfas	A	T	11: 68,992,959	V624E	probably damaging	Het
Phb	A	T	11: 95,678,091	E184V	probably damaging	Het
Phlpp2	G	T	8: 109,940,188	M1116I	probably benign	Het
Pip5kl1	T	C	2: 32,580,431		probably null	Het
Pitpnm2	T	A	5: 124,125,356	I824F	possibly damaging	Het
Pla2g4c	G	A	7: 13,325,744	S2N	possibly damaging	Het
Pla2r1	A	T	2: 60,427,625		probably null	Het
Pole2	T	C	12: 69,202,910	D521G	probably damaging	Het
Ptch1	T	C	13: 63,573,294	K54E	not run	Het
Rapgef2	A	T	3: 79,082,627	L931Q	probably damaging	Het
Rassf3	G	A	10: 121,413,019	Q206*	probably null	Het
Rnf123	T	A	9: 108,069,029	T316S	probably damaging	Het
Rnf138	T	A	18: 21,008,693		probably null	Het
Sept3	G	A	15: 82,289,213	A249T	probably damaging	Het
Slc35a4	A	T	18: 36,679,616	D3V	unknown	Het
Sltm	T	A	9: 70,543,965		probably null	Het
Smarca2	C	T	19: 26,654,464	Q560*	probably null	Het
Tcl1b1	A	T	12: 105,164,531	D91V	probably damaging	Het
Tirap	A	T	9: 35,189,034	V118E	probably damaging	Het
Tlr5	T	A	1: 182,974,233	Y367*	probably null	Het
Tmcc1	A	G	6: 116,107,338	F5L	probably benign	Het
Tnxb	A	G	17: 34,716,501	M2592V	probably benign	Het
Trim66	T	A	7: 109,460,244	E931V	probably damaging	Het
Ttn	A	G	2: 76,741,094	I26485T	probably damaging	Het
Veph1	C	A	3: 66,158,282	V455L	probably benign	Het
Vmn1r125	A	T	7: 21,272,825	H216L	probably damaging	Het
Wdr17	T	A	8: 54,632,487	E1200D	probably benign	Het
Zbtb37	T	A	1: 161,032,661	N25Y	probably damaging	Het

Other mutations in Flt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Flt4	APN	11	49635261	missense	probably damaging	1.00
IGL01140:Flt4	APN	11	49634943	nonsense	probably null
IGL01360:Flt4	APN	11	49643506	missense	probably benign	0.04
IGL01386:Flt4	APN	11	49637335	missense	probably benign	0.00
IGL01769:Flt4	APN	11	49635171	splice site	probably benign
IGL02189:Flt4	APN	11	49626003	missense	probably damaging	1.00
IGL02206:Flt4	APN	11	49630390	missense	probably damaging	0.98
IGL02324:Flt4	APN	11	49645995	missense	probably benign	0.13
IGL02433:Flt4	APN	11	49630573	missense	probably benign	0.01
IGL03009:Flt4	APN	11	49627124	missense	probably benign	0.02
IGL03035:Flt4	APN	11	49645897	nonsense	probably null
IGL03059:Flt4	APN	11	49642307	missense	probably damaging	0.97
IGL03350:Flt4	APN	11	49634793	nonsense	probably null
PIT4802001:Flt4	UTSW	11	49633169	missense	probably benign
R0360:Flt4	UTSW	11	49636991	missense	probably benign	0.02
R0364:Flt4	UTSW	11	49636991	missense	probably benign	0.02
R0386:Flt4	UTSW	11	49644386	missense	probably benign	0.00
R0395:Flt4	UTSW	11	49630343	missense	probably benign	0.00
R0600:Flt4	UTSW	11	49636339	splice site	probably benign
R0666:Flt4	UTSW	11	49625447	missense	possibly damaging	0.53
R0720:Flt4	UTSW	11	49636339	splice site	probably benign
R0734:Flt4	UTSW	11	49626717	missense	possibly damaging	0.67
R0973:Flt4	UTSW	11	49636339	splice site	probably benign
R1013:Flt4	UTSW	11	49636339	splice site	probably benign
R1103:Flt4	UTSW	11	49636339	splice site	probably benign
R1104:Flt4	UTSW	11	49636339	splice site	probably benign
R1162:Flt4	UTSW	11	49636339	splice site	probably benign
R1241:Flt4	UTSW	11	49636339	splice site	probably benign
R1401:Flt4	UTSW	11	49636339	splice site	probably benign
R1487:Flt4	UTSW	11	49633144	missense	possibly damaging	0.86
R1546:Flt4	UTSW	11	49631981	missense	probably benign	0.03
R1999:Flt4	UTSW	11	49645997	missense	probably benign	0.00
R2110:Flt4	UTSW	11	49625304	missense	probably benign	0.03
R2150:Flt4	UTSW	11	49645997	missense	probably benign	0.00
R2189:Flt4	UTSW	11	49635698	missense	probably benign	0.24
R2217:Flt4	UTSW	11	49624728	missense	probably benign	0.00
R2218:Flt4	UTSW	11	49624728	missense	probably benign	0.00
R2249:Flt4	UTSW	11	49645959	missense	possibly damaging	0.66
R2402:Flt4	UTSW	11	49637819	missense	possibly damaging	0.82
R3508:Flt4	UTSW	11	49634114	missense	probably damaging	0.99
R3974:Flt4	UTSW	11	49636740	missense	probably damaging	0.99
R4168:Flt4	UTSW	11	49630573	missense	probably benign	0.01
R4700:Flt4	UTSW	11	49626444	intron	probably benign
R4701:Flt4	UTSW	11	49626808	missense	possibly damaging	0.49
R4714:Flt4	UTSW	11	49627207	missense	probably damaging	0.99
R4817:Flt4	UTSW	11	49625415	missense	probably damaging	0.98
R4921:Flt4	UTSW	11	49627143	missense	probably damaging	0.98
R5066:Flt4	UTSW	11	49634163	missense	possibly damaging	0.62
R5095:Flt4	UTSW	11	49627159	missense	possibly damaging	0.95
R5166:Flt4	UTSW	11	49633257	splice site	probably null
R5245:Flt4	UTSW	11	49651034	frame shift	probably null
R5250:Flt4	UTSW	11	49630400	missense	possibly damaging	0.88
R5400:Flt4	UTSW	11	49651034	frame shift	probably null
R5401:Flt4	UTSW	11	49651034	frame shift	probably null
R5402:Flt4	UTSW	11	49651034	frame shift	probably null
R5527:Flt4	UTSW	11	49634754	missense	probably damaging	1.00
R5686:Flt4	UTSW	11	49630603	missense	probably benign	0.00
R5766:Flt4	UTSW	11	49626686	missense	possibly damaging	0.75
R5996:Flt4	UTSW	11	49651070	missense	probably damaging	1.00
R6037:Flt4	UTSW	11	49637040	missense	probably damaging	1.00
R6037:Flt4	UTSW	11	49637040	missense	probably damaging	1.00
R6352:Flt4	UTSW	11	49643506	missense	probably benign	0.04
R6361:Flt4	UTSW	11	49630578	missense	probably benign	0.00
R6574:Flt4	UTSW	11	49625372	missense	probably benign
R7205:Flt4	UTSW	11	49634298	missense	probably null	0.78
R7216:Flt4	UTSW	11	49634681	missense	possibly damaging	0.73
R7457:Flt4	UTSW	11	49630328	missense	possibly damaging	0.89
R7559:Flt4	UTSW	11	49644371	missense	possibly damaging	0.50
R8181:Flt4	UTSW	11	49634896	missense	probably damaging	0.99
R8286:Flt4	UTSW	11	49637262	missense	probably benign	0.00
X0017:Flt4	UTSW	11	49626733	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TCAACATCACACTGCGCTCG -3'
(R):5'- GGGTGATAAGACTGTCTGTGATACC -3'

Sequencing Primer
(F):5'- ATCACACTGCGCTCGGTACC -3'
(R):5'- GACTGTCTGTGATACCAACAGC -3'

Posted On

2019-06-26