Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03350:Flt4'

419682

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Flt4

Ensembl Gene

ENSMUSG00000020357

Gene Name

FMS-like tyrosine kinase 4

Synonyms

VEGFR-3, Flt-4, VEGFR3

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03350

Quality Score

Status

Chromosome

Chromosomal Location

49609263-49652739 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 49634793 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 722 (S722*)

Ref Sequence

ENSEMBL: ENSMUSP00000020617 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000020617
AA Change: S722*

SMART Domains

Protein: ENSMUSP00000020617
Gene: ENSMUSG00000020357
AA Change: S722*

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	C	A	6: 129,331,023	V28L	probably benign	Het
Adam26a	A	T	8: 43,569,552	Y300*	probably null	Het
Adgre1	T	A	17: 57,401,908	V33E	probably benign	Het
AI987944	A	G	7: 41,393,237		probably benign	Het
Atp4a	T	C	7: 30,720,867	L813P	probably damaging	Het
Blmh	A	G	11: 76,971,948	N396D	probably damaging	Het
Brat1	T	C	5: 140,705,995	L9P	probably damaging	Het
Ccdc171	T	C	4: 83,681,378	I810T	possibly damaging	Het
Cyp2a22	T	C	7: 26,934,854	T292A	possibly damaging	Het
Ecm2	C	T	13: 49,520,944	T280I	probably benign	Het
Fa2h	C	T	8: 111,349,296	V232I	probably benign	Het
Fbxw24	T	C	9: 109,607,013	D317G	probably damaging	Het
Fryl	T	C	5: 73,133,306	Q85R	probably damaging	Het
Gm3239	A	G	14: 4,667,115	R188G	possibly damaging	Het
Hspa13	A	T	16: 75,757,829	S456R	probably damaging	Het
Htr1b	T	C	9: 81,632,122	Y144C	probably damaging	Het
Hydin	A	G	8: 110,312,224	H198R	possibly damaging	Het
Krt78	A	T	15: 101,946,517	M953K	probably benign	Het
Lgr5	G	T	10: 115,471,988	T255K	probably damaging	Het
Lrp2	T	A	2: 69,438,453	D4162V	probably damaging	Het
Map3k2	A	G	18: 32,212,148	D342G	probably damaging	Het
Miip	A	G	4: 147,862,522	V258A	probably benign	Het
Muc6	T	C	7: 141,652,059	H52R	probably damaging	Het
Nfs1	T	C	2: 156,127,740	E329G	probably benign	Het
Npsr1	T	C	9: 24,098,309	V37A	probably benign	Het
Olfr1107	A	C	2: 87,071,560	D191E	probably damaging	Het
Olfr23	A	T	11: 73,940,838	L197F	probably damaging	Het
Olfr356	T	C	2: 36,937,583	Y155H	probably damaging	Het
Pex16	T	A	2: 92,377,497	M98K	probably damaging	Het
Pla2r1	C	T	2: 60,455,173	C699Y	probably damaging	Het
Plcd4	A	T	1: 74,549,301	D103V	probably damaging	Het
Pnpla1	A	G	17: 28,876,992	D129G	probably damaging	Het
Rad23a	T	C	8: 84,837,479	E265G	possibly damaging	Het
Rbm11	C	T	16: 75,600,808	P209S	probably benign	Het
Ribc2	T	A	15: 85,135,502	W162R	probably damaging	Het
Rnf4	A	G	5: 34,346,860	E32G	possibly damaging	Het
Rpe65	A	T	3: 159,614,517	S269C	possibly damaging	Het
Slc7a14	T	A	3: 31,237,409	Y240F	probably benign	Het
Sorbs2	C	T	8: 45,805,807	P1047L	probably damaging	Het
Ttn	T	C	2: 76,749,822	I23576V	probably damaging	Het
Usp24	T	G	4: 106,371,079	Y780*	probably null	Het
Wee2	T	C	6: 40,449,731	S145P	probably damaging	Het
Zcchc7	A	G	4: 44,931,188	T126A	probably benign	Het
Zpld1	A	G	16: 55,241,329		probably benign	Het
Zufsp	G	A	10: 33,928,111	R456C	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
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
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

Posted On

2016-08-02