Mutagenetix > Incidental Mutations

Incidental Mutation 'R5527:Flt4'

431936

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

043085-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5527 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49609263-49652739 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49634754 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 709 (I709T)

Ref Sequence

ENSEMBL: ENSMUSP00000020617 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000020617
AA Change: I709T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020617
Gene: ENSMUSG00000020357
AA Change: I709T

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: 98.2%
3x: 97.2%
10x: 94.9%
20x: 89.7%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,460,978	Y1051N	probably benign	Het
Bach1	T	C	16: 87,719,545	S325P	probably benign	Het
Baz2a	T	C	10: 128,124,917	S1529P	probably damaging	Het
BC027072	A	T	17: 71,752,640	V14D	probably damaging	Het
Bicd1	T	C	6: 149,494,636	L168P	probably damaging	Het
Cat	A	G	2: 103,472,973	F153S	probably damaging	Het
Ccnt2	T	C	1: 127,802,664	M426T	probably benign	Het
Cdk7	C	T	13: 100,730,472	V38I	probably damaging	Het
Cenpj	T	C	14: 56,526,983	Y1324C	probably damaging	Het
Ddx47	C	A	6: 135,011,694	A18E	probably benign	Het
Dnah2	G	A	11: 69,437,188	Q3370*	probably null	Het
Dnah6	C	T	6: 73,159,229	V976I	probably benign	Het
Dock7	C	T	4: 98,953,868		probably benign	Het
Dpy19l3	A	T	7: 35,714,130	I362N	possibly damaging	Het
Fam118a	A	T	15: 85,058,798	T343S	probably benign	Het
Fcgbp	T	A	7: 28,093,635	D1021E	probably benign	Het
Fkbp1b	T	C	12: 4,833,746	Y83C	probably damaging	Het
Gga3	G	T	11: 115,587,436	A510D	probably damaging	Het
Heatr1	T	C	13: 12,402,760	I264T	probably damaging	Het
Heatr1	T	C	13: 12,404,948	I384T	probably benign	Het
Hes2	T	C	4: 152,160,392	V106A	probably benign	Het
Igf1r	T	A	7: 68,207,821	M1083K	probably damaging	Het
Il7r	A	T	15: 9,512,924	D166E	probably benign	Het
Ipo4	G	A	14: 55,632,050		probably null	Het
Klk1b26	T	C	7: 44,012,763	I15T	probably benign	Het
Krt42	T	C	11: 100,263,295		probably benign	Het
Lag3	T	C	6: 124,908,629	T263A	probably damaging	Het
Lilra6	T	A	7: 3,914,587		probably benign	Het
Lrrc31	T	A	3: 30,691,228	H90L	probably damaging	Het
Lvrn	G	A	18: 46,873,803	D331N	probably damaging	Het
Me2	A	T	18: 73,791,116	W342R	probably damaging	Het
Mob2	A	G	7: 142,009,410	F220S	probably damaging	Het
Mroh4	A	G	15: 74,615,016	I342T	probably damaging	Het
Naa15	T	C	3: 51,441,947	Y46H	probably damaging	Het
Neb	A	G	2: 52,334,453	V10A	unknown	Het
Nlrc5	A	G	8: 94,490,416	H1011R	probably damaging	Het
Nr1i3	A	G	1: 171,214,352	T2A	possibly damaging	Het
Nrros	T	C	16: 32,144,470	N207S	probably damaging	Het
Olfr1356	C	T	10: 78,847,775	V47M	probably benign	Het
Olfr553	A	T	7: 102,614,561	S143T	probably benign	Het
Ptprz1	C	T	6: 23,000,053	T714I	possibly damaging	Het
Rp1	T	C	1: 4,346,393	T1499A	possibly damaging	Het
Rsg1	C	A	4: 141,219,992	A228D	probably damaging	Het
Rubcn	T	C	16: 32,826,711	K771E	probably damaging	Het
Sbds	T	C	5: 130,246,406	E227G	possibly damaging	Het
Setd1a	C	T	7: 127,785,629	P8S	probably damaging	Het
Sh3tc2	A	G	18: 62,011,861	I1129V	probably benign	Het
Spef1	T	A	2: 131,172,741	D87V	probably damaging	Het
Supv3l1	C	T	10: 62,429,829	R644Q	probably damaging	Het
Thoc6	A	G	17: 23,670,795	F51S	probably damaging	Het
Tm4sf19	T	C	16: 32,407,921	L176P	probably damaging	Het
Tma16	A	G	8: 66,484,124	I17T	possibly damaging	Het
Tpd52l2	G	A	2: 181,502,054		probably null	Het
Ube2j1	C	T	4: 33,045,164	P146S	probably benign	Het
Ubr4	T	A	4: 139,480,788	I4960N	possibly damaging	Het
Usp13	A	G	3: 32,865,838	D224G	probably damaging	Het
Uxs1	T	C	1: 43,780,080	T188A	probably damaging	Het
Vmn2r12	A	T	5: 109,086,617	Y576*	probably null	Het
Vmn2r73	T	C	7: 85,858,367	D579G	possibly damaging	Het
Xpr1	T	C	1: 155,290,235	N524D	probably benign	Het
Xrn2	A	T	2: 147,029,755	I366L	probably benign	Het
Zfp236	A	T	18: 82,658,034	V386E	possibly damaging	Het
Zfp292	A	T	4: 34,806,261	L2261Q	probably damaging	Het
Zpld1	C	G	16: 55,226,362	E415Q	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
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
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
X0017:Flt4	UTSW	11	49626733	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- CTAATCTTTCAGCGCCATGC -3'
(R):5'- CTCTGATTGGAGTCTGCCAG -3'

Sequencing Primer
(F):5'- GCTGCACCTATCCCTACTTGAAG -3'
(R):5'- CAGGTCGATTCCTGCAAAAG -3'

Posted On

2016-10-05