Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01140:Flt4'

52374

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Flt4

Ensembl Gene

ENSMUSG00000020357

Gene Name

FMS-like tyrosine kinase 4

Synonyms

VEGFR3, VEGFR-3, Flt-4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01140

Quality Score

Status

Chromosome

Chromosomal Location

49500506-49543566 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 49525770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 740 (E740*)

Ref Sequence

ENSEMBL: ENSMUSP00000020617 (fasta)

Gene Model

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

AlphaFold

P35917

Predicted Effect

probably null
Transcript: ENSMUST00000020617
AA Change: E740*

SMART Domains

Protein: ENSMUSP00000020617
Gene: ENSMUSG00000020357
AA Change: E740*

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afm	A	G	5: 90,672,726 (GRCm39)	E187G	probably damaging	Het
Asap2	T	C	12: 21,256,317 (GRCm39)	V205A	probably damaging	Het
Atg16l1	A	G	1: 87,702,575 (GRCm39)	I279V	probably benign	Het
Atp2b2	C	T	6: 113,766,932 (GRCm39)	V436I	possibly damaging	Het
Cald1	T	A	6: 34,739,196 (GRCm39)	S640T	possibly damaging	Het
Cdc23	A	G	18: 34,769,385 (GRCm39)	Y460H	probably benign	Het
Cenpk	T	A	13: 104,372,742 (GRCm39)		probably benign	Het
Ctss	A	G	3: 95,446,036 (GRCm39)	E52G	probably damaging	Het
Cuzd1	A	T	7: 130,913,523 (GRCm39)	C365S	probably damaging	Het
Cyp2c55	T	C	19: 39,007,093 (GRCm39)	L163P	probably benign	Het
Cyp4f37	T	C	17: 32,848,027 (GRCm39)	S182P	probably benign	Het
Galntl6	T	A	8: 58,411,356 (GRCm39)	R291S	probably damaging	Het
Hydin	G	A	8: 111,124,694 (GRCm39)	V568I	probably benign	Het
Ift70a1	A	G	2: 75,810,259 (GRCm39)	V608A	probably benign	Het
Kcnab3	A	G	11: 69,220,705 (GRCm39)	K145R	probably benign	Het
Lama1	T	C	17: 68,109,928 (GRCm39)	V2183A	probably benign	Het
Lrmda	C	T	14: 22,646,585 (GRCm39)	A75V	possibly damaging	Het
Mbtd1	A	G	11: 93,815,258 (GRCm39)	E282G	probably damaging	Het
Muc19	A	T	15: 91,783,593 (GRCm39)		noncoding transcript	Het
Mug1	A	G	6: 121,859,693 (GRCm39)	T1231A	probably benign	Het
Nkpd1	A	G	7: 19,257,387 (GRCm39)	T389A	possibly damaging	Het
Nudt19	A	G	7: 35,247,336 (GRCm39)	*358Q	probably null	Het
Nup160	G	T	2: 90,530,909 (GRCm39)	M522I	possibly damaging	Het
Obsl1	T	A	1: 75,466,400 (GRCm39)		probably benign	Het
Or4m1	T	A	14: 50,557,732 (GRCm39)	I187F	probably damaging	Het
Or5ak24	T	C	2: 85,260,484 (GRCm39)	T230A	probably benign	Het
Or5b119	G	A	19: 13,457,151 (GRCm39)	T137I	possibly damaging	Het
Osbpl10	C	T	9: 115,005,070 (GRCm39)	P341S	probably benign	Het
Papola	C	A	12: 105,775,856 (GRCm39)	C7*	probably null	Het
Pld1	C	A	3: 28,132,386 (GRCm39)	L525I	probably benign	Het
Prom2	T	C	2: 127,373,125 (GRCm39)		probably benign	Het
Psmb5	G	A	14: 54,855,264 (GRCm39)	T62I	possibly damaging	Het
Sag	A	G	1: 87,751,086 (GRCm39)	E184G	probably benign	Het
Slc16a10	T	C	10: 39,952,921 (GRCm39)	Y191C	probably damaging	Het
Slc22a22	T	C	15: 57,126,734 (GRCm39)	T93A	probably damaging	Het
Ssx2ip	A	G	3: 146,133,598 (GRCm39)	Y231C	probably benign	Het
Trib1	A	G	15: 59,523,476 (GRCm39)	Y170C	probably damaging	Het
Trmt10a	G	A	3: 137,862,459 (GRCm39)		probably benign	Het
Troap	G	T	15: 98,980,027 (GRCm39)	Q402H	probably damaging	Het
Vmn2r70	G	A	7: 85,214,379 (GRCm39)	Q258*	probably null	Het
Zfp128	A	G	7: 12,624,949 (GRCm39)	Y439C	probably benign	Het
Zmym1	A	G	4: 126,943,435 (GRCm39)	F318L	probably damaging	Het
Zswim2	A	G	2: 83,745,672 (GRCm39)	S589P	probably benign	Het

Other mutations in Flt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Flt4	APN	11	49,526,088 (GRCm39)	missense	probably damaging	1.00
IGL01360:Flt4	APN	11	49,534,333 (GRCm39)	missense	probably benign	0.04
IGL01386:Flt4	APN	11	49,528,162 (GRCm39)	missense	probably benign	0.00
IGL01769:Flt4	APN	11	49,525,998 (GRCm39)	splice site	probably benign
IGL02189:Flt4	APN	11	49,516,830 (GRCm39)	missense	probably damaging	1.00
IGL02206:Flt4	APN	11	49,521,217 (GRCm39)	missense	probably damaging	0.98
IGL02324:Flt4	APN	11	49,536,822 (GRCm39)	missense	probably benign	0.13
IGL02433:Flt4	APN	11	49,521,400 (GRCm39)	missense	probably benign	0.01
IGL03009:Flt4	APN	11	49,517,951 (GRCm39)	missense	probably benign	0.02
IGL03035:Flt4	APN	11	49,536,724 (GRCm39)	nonsense	probably null
IGL03059:Flt4	APN	11	49,533,134 (GRCm39)	missense	probably damaging	0.97
IGL03350:Flt4	APN	11	49,525,620 (GRCm39)	nonsense	probably null
PIT4802001:Flt4	UTSW	11	49,523,996 (GRCm39)	missense	probably benign
R0360:Flt4	UTSW	11	49,527,818 (GRCm39)	missense	probably benign	0.02
R0364:Flt4	UTSW	11	49,527,818 (GRCm39)	missense	probably benign	0.02
R0386:Flt4	UTSW	11	49,535,213 (GRCm39)	missense	probably benign	0.00
R0395:Flt4	UTSW	11	49,521,170 (GRCm39)	missense	probably benign	0.00
R0600:Flt4	UTSW	11	49,527,166 (GRCm39)	splice site	probably benign
R0666:Flt4	UTSW	11	49,516,274 (GRCm39)	missense	possibly damaging	0.53
R0720:Flt4	UTSW	11	49,527,166 (GRCm39)	splice site	probably benign
R0734:Flt4	UTSW	11	49,517,544 (GRCm39)	missense	possibly damaging	0.67
R0973:Flt4	UTSW	11	49,527,166 (GRCm39)	splice site	probably benign
R1013:Flt4	UTSW	11	49,527,166 (GRCm39)	splice site	probably benign
R1103:Flt4	UTSW	11	49,527,166 (GRCm39)	splice site	probably benign
R1104:Flt4	UTSW	11	49,527,166 (GRCm39)	splice site	probably benign
R1162:Flt4	UTSW	11	49,527,166 (GRCm39)	splice site	probably benign
R1241:Flt4	UTSW	11	49,527,166 (GRCm39)	splice site	probably benign
R1401:Flt4	UTSW	11	49,527,166 (GRCm39)	splice site	probably benign
R1487:Flt4	UTSW	11	49,523,971 (GRCm39)	missense	possibly damaging	0.86
R1546:Flt4	UTSW	11	49,522,808 (GRCm39)	missense	probably benign	0.03
R1999:Flt4	UTSW	11	49,536,824 (GRCm39)	missense	probably benign	0.00
R2110:Flt4	UTSW	11	49,516,131 (GRCm39)	missense	probably benign	0.03
R2150:Flt4	UTSW	11	49,536,824 (GRCm39)	missense	probably benign	0.00
R2189:Flt4	UTSW	11	49,526,525 (GRCm39)	missense	probably benign	0.24
R2217:Flt4	UTSW	11	49,515,555 (GRCm39)	missense	probably benign	0.00
R2218:Flt4	UTSW	11	49,515,555 (GRCm39)	missense	probably benign	0.00
R2249:Flt4	UTSW	11	49,536,786 (GRCm39)	missense	possibly damaging	0.66
R2402:Flt4	UTSW	11	49,528,646 (GRCm39)	missense	possibly damaging	0.82
R3508:Flt4	UTSW	11	49,524,941 (GRCm39)	missense	probably damaging	0.99
R3974:Flt4	UTSW	11	49,527,567 (GRCm39)	missense	probably damaging	0.99
R4168:Flt4	UTSW	11	49,521,400 (GRCm39)	missense	probably benign	0.01
R4700:Flt4	UTSW	11	49,517,271 (GRCm39)	intron	probably benign
R4701:Flt4	UTSW	11	49,517,635 (GRCm39)	missense	possibly damaging	0.49
R4714:Flt4	UTSW	11	49,518,034 (GRCm39)	missense	probably damaging	0.99
R4817:Flt4	UTSW	11	49,516,242 (GRCm39)	missense	probably damaging	0.98
R4921:Flt4	UTSW	11	49,517,970 (GRCm39)	missense	probably damaging	0.98
R5066:Flt4	UTSW	11	49,524,990 (GRCm39)	missense	possibly damaging	0.62
R5095:Flt4	UTSW	11	49,517,986 (GRCm39)	missense	possibly damaging	0.95
R5166:Flt4	UTSW	11	49,524,084 (GRCm39)	splice site	probably null
R5245:Flt4	UTSW	11	49,541,861 (GRCm39)	frame shift	probably null
R5250:Flt4	UTSW	11	49,521,227 (GRCm39)	missense	possibly damaging	0.88
R5400:Flt4	UTSW	11	49,541,861 (GRCm39)	frame shift	probably null
R5401:Flt4	UTSW	11	49,541,861 (GRCm39)	frame shift	probably null
R5402:Flt4	UTSW	11	49,541,861 (GRCm39)	frame shift	probably null
R5527:Flt4	UTSW	11	49,525,581 (GRCm39)	missense	probably damaging	1.00
R5686:Flt4	UTSW	11	49,521,430 (GRCm39)	missense	probably benign	0.00
R5766:Flt4	UTSW	11	49,517,513 (GRCm39)	missense	possibly damaging	0.75
R5996:Flt4	UTSW	11	49,541,897 (GRCm39)	missense	probably damaging	1.00
R6037:Flt4	UTSW	11	49,527,867 (GRCm39)	missense	probably damaging	1.00
R6037:Flt4	UTSW	11	49,527,867 (GRCm39)	missense	probably damaging	1.00
R6352:Flt4	UTSW	11	49,534,333 (GRCm39)	missense	probably benign	0.04
R6361:Flt4	UTSW	11	49,521,405 (GRCm39)	missense	probably benign	0.00
R6574:Flt4	UTSW	11	49,516,199 (GRCm39)	missense	probably benign
R7205:Flt4	UTSW	11	49,525,125 (GRCm39)	missense	probably null	0.78
R7216:Flt4	UTSW	11	49,525,508 (GRCm39)	missense	possibly damaging	0.73
R7257:Flt4	UTSW	11	49,516,836 (GRCm39)	missense	probably benign	0.22
R7457:Flt4	UTSW	11	49,521,155 (GRCm39)	missense	possibly damaging	0.89
R7559:Flt4	UTSW	11	49,535,198 (GRCm39)	missense	possibly damaging	0.50
R8181:Flt4	UTSW	11	49,525,723 (GRCm39)	missense	probably damaging	0.99
R8286:Flt4	UTSW	11	49,528,089 (GRCm39)	missense	probably benign	0.00
R8885:Flt4	UTSW	11	49,527,160 (GRCm39)	splice site	probably benign
R9051:Flt4	UTSW	11	49,527,598 (GRCm39)	missense	probably benign	0.02
R9104:Flt4	UTSW	11	49,525,161 (GRCm39)	missense	probably damaging	1.00
R9112:Flt4	UTSW	11	49,524,064 (GRCm39)	missense	probably damaging	1.00
R9301:Flt4	UTSW	11	49,516,241 (GRCm39)	missense	possibly damaging	0.92
R9721:Flt4	UTSW	11	49,535,260 (GRCm39)	critical splice donor site	probably null
X0017:Flt4	UTSW	11	49,517,560 (GRCm39)	missense	possibly damaging	0.89

Posted On

2013-06-21