Mutagenetix > Incidental Mutation

Incidental Mutation 'R0360:Flt4'

65677

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

038566-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0360 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49609263-49652739 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49636991 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 924 (M924L)

Ref Sequence

ENSEMBL: ENSMUSP00000020617 (fasta)

Gene Model

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

AlphaFold

P35917

Predicted Effect

probably benign
Transcript: ENSMUST00000020617
AA Change: M924L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000020617
Gene: ENSMUSG00000020357
AA Change: M924L

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

Meta Mutation Damage Score

0.3197

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

98% (93/95)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,611,128		probably benign	Het
Adcyap1r1	G	T	6: 55,475,523		probably benign	Het
Ankrd6	T	C	4: 32,836,424	T44A	probably damaging	Het
Ano7	A	G	1: 93,388,658	D221G	probably benign	Het
Bhlhe40	C	A	6: 108,664,750	N218K	probably damaging	Het
Bms1	A	G	6: 118,405,290	V429A	probably benign	Het
C7	T	A	15: 4,988,962	T800S	probably benign	Het
Camta2	G	A	11: 70,683,310	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,798,216	N665I	probably damaging	Het
Ccdc157	T	C	11: 4,146,663	E362G	probably damaging	Het
Ccdc73	T	A	2: 104,981,007	N310K	probably damaging	Het
Cmklr1	A	T	5: 113,614,517	L141H	probably damaging	Het
Cnst	C	A	1: 179,579,535	A49E	probably benign	Het
Col5a3	C	T	9: 20,772,466	R1498Q	unknown	Het
Crybb3	T	A	5: 113,075,953	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,707,267	P97S	probably benign	Het
Cubn	T	C	2: 13,310,507		probably benign	Het
Cyp2d37-ps	T	C	15: 82,690,052		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,432,920	N223K	probably benign	Het
D16Ertd472e	A	T	16: 78,547,885	C112S	probably benign	Het
Dennd2a	T	C	6: 39,508,299	T349A	probably benign	Het
Dock5	G	A	14: 67,822,680		probably benign	Het
Dpp6	T	C	5: 27,652,269	L404P	probably damaging	Het
Dsc3	T	A	18: 19,971,582	T563S	possibly damaging	Het
Dync2h1	T	A	9: 7,113,182	E214D	possibly damaging	Het
Elac2	A	G	11: 64,979,310	Y67C	probably damaging	Het
Elmo1	A	T	13: 20,564,493	K503*	probably null	Het
Eng	T	C	2: 32,679,137	S559P	probably benign	Het
Epc2	T	A	2: 49,537,133	V563E	possibly damaging	Het
Fancm	A	G	12: 65,075,950	Y82C	probably damaging	Het
Gabpa	T	A	16: 84,857,387	N317K	possibly damaging	Het
Gchfr	T	G	2: 119,167,846	Y3*	probably null	Het
Gli3	G	T	13: 15,724,764	G912V	probably benign	Het
Gm10295	C	A	7: 71,350,613	C73F	unknown	Het
Gm10382	G	T	5: 125,389,664		probably benign	Het
Gm6614	A	C	6: 141,982,327		probably benign	Het
Gp1ba	T	C	11: 70,640,458		probably benign	Het
Gpr146	G	A	5: 139,379,178		probably benign	Het
Hexdc	T	A	11: 121,212,143	H62Q	probably benign	Het
Hgd	T	A	16: 37,611,184		probably benign	Het
Hs6st1	G	A	1: 36,069,185		probably null	Het
Icam4	A	G	9: 21,029,821	Y123C	probably damaging	Het
Il24	A	G	1: 130,883,937	V134A	probably damaging	Het
Iqcb1	G	T	16: 36,872,308	A562S	probably damaging	Het
Iqgap2	A	C	13: 95,731,275		probably benign	Het
Islr2	T	C	9: 58,199,744	T78A	possibly damaging	Het
Kif1b	A	G	4: 149,262,729	I330T	probably damaging	Het
Kirrel	T	C	3: 87,089,799	Y287C	probably damaging	Het
Klf10	C	T	15: 38,296,846	V317M	probably benign	Het
Klhl9	T	G	4: 88,720,290	K571N	probably benign	Het
Lin37	T	C	7: 30,557,013	I97V	possibly damaging	Het
Lrrc37a	C	T	11: 103,500,640	V1320I	possibly damaging	Het
Lrrc74a	A	G	12: 86,737,795	H99R	probably damaging	Het
Maats1	T	A	16: 38,298,297		probably null	Het
Me3	T	A	7: 89,786,414		probably null	Het
Med13	T	C	11: 86,329,161		probably benign	Het
Myh6	A	T	14: 54,948,347	Y1490*	probably null	Het
Myo10	T	C	15: 25,804,368	L1583P	probably damaging	Het
Nkx6-3	A	G	8: 23,157,706	E227G	possibly damaging	Het
Nlrp1a	T	A	11: 71,114,004		probably benign	Het
Nlrp5-ps	A	C	7: 14,583,091		noncoding transcript	Het
Nup188	T	G	2: 30,326,479	I765S	probably null	Het
Obscn	G	A	11: 59,128,281	A969V	probably benign	Het
Olfr1080	A	T	2: 86,553,779	L115Q	probably damaging	Het
Olfr348	T	A	2: 36,787,440	M305K	probably benign	Het
Olfr76	G	T	19: 12,119,853	D286E	possibly damaging	Het
Olfr96	T	C	17: 37,226,043	L306P	possibly damaging	Het
Otogl	T	A	10: 107,770,650		probably benign	Het
Pcnx3	G	A	19: 5,665,583	R1472W	probably damaging	Het
Plekha5	G	A	6: 140,591,747	R646K	possibly damaging	Het
Plscr4	T	A	9: 92,488,761		probably benign	Het
Pon2	G	A	6: 5,266,156	Q288*	probably null	Het
Ptpn13	C	A	5: 103,533,348	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,747,553	V62D	probably damaging	Het
Rab37	G	T	11: 115,156,964	C44F	probably damaging	Het
Rbm44	T	C	1: 91,152,347	S52P	probably benign	Het
Rgl3	A	G	9: 21,976,857	W454R	probably damaging	Het
Rita1	A	G	5: 120,609,772	S154P	probably benign	Het
Scn5a	T	C	9: 119,522,599	D772G	probably damaging	Het
Sec23ip	G	A	7: 128,761,405		probably benign	Het
Slc23a1	T	A	18: 35,622,979		probably benign	Het
Sparcl1	T	A	5: 104,089,637	D444V	probably damaging	Het
Taar6	C	A	10: 23,985,148	V167L	probably benign	Het
Tmcc3	T	A	10: 94,578,545	N36K	probably benign	Het
Tmem200c	T	A	17: 68,840,548	V42E	probably damaging	Het
Trhde	T	C	10: 114,502,982		probably benign	Het
Tshz3	A	G	7: 36,770,533	E649G	probably benign	Het
Utp4	T	C	8: 106,898,537		probably benign	Het
Vmn1r30	A	G	6: 58,435,277	V190A	probably benign	Het
Vmn1r35	A	G	6: 66,678,843	I281T	probably damaging	Het
Vmn1r58	G	T	7: 5,410,330	H300Q	probably benign	Het
Vmn1r84	A	G	7: 12,361,872	L286P	probably damaging	Het
Vmn2r54	A	T	7: 12,615,649	C669S	probably damaging	Het
Wdr61	A	T	9: 54,727,578		probably benign	Het
Zfp623	T	C	15: 75,948,661	S489P	probably benign	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
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
R7257:Flt4	UTSW	11	49626009	missense	probably benign	0.22
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
R8885:Flt4	UTSW	11	49636333	splice site	probably benign
R9051:Flt4	UTSW	11	49636771	missense	probably benign	0.02
R9104:Flt4	UTSW	11	49634334	missense	probably damaging	1.00
R9112:Flt4	UTSW	11	49633237	missense	probably damaging	1.00
R9301:Flt4	UTSW	11	49625414	missense	possibly damaging	0.92
R9721:Flt4	UTSW	11	49644433	critical splice donor site	probably null
X0017:Flt4	UTSW	11	49626733	missense	possibly damaging	0.89

Predicted Primers

Posted On

2013-08-08