Mutagenetix > Incidental Mutation

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

VEGFR3, VEGFR-3, Flt-4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03350

Quality Score

Status

Chromosome

Chromosomal Location

49500506-49543566 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 49525620 bp (GRCm39)

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]

AlphaFold

P35917

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
Adam26a	A	T	8: 44,022,589 (GRCm39)	Y300*	probably null	Het
Adgre1	T	A	17: 57,708,908 (GRCm39)	V33E	probably benign	Het
AI987944	A	G	7: 41,042,661 (GRCm39)		probably benign	Het
Atp4a	T	C	7: 30,420,292 (GRCm39)	L813P	probably damaging	Het
Blmh	A	G	11: 76,862,774 (GRCm39)	N396D	probably damaging	Het
Brat1	T	C	5: 140,691,750 (GRCm39)	L9P	probably damaging	Het
Ccdc171	T	C	4: 83,599,615 (GRCm39)	I810T	possibly damaging	Het
Clec2m	C	A	6: 129,307,986 (GRCm39)	V28L	probably benign	Het
Cyp2a22	T	C	7: 26,634,279 (GRCm39)	T292A	possibly damaging	Het
Ecm2	C	T	13: 49,674,420 (GRCm39)	T280I	probably benign	Het
Fa2h	C	T	8: 112,075,928 (GRCm39)	V232I	probably benign	Het
Fbxw24	T	C	9: 109,436,081 (GRCm39)	D317G	probably damaging	Het
Fryl	T	C	5: 73,290,649 (GRCm39)	Q85R	probably damaging	Het
Gm3239	A	G	14: 15,882,083 (GRCm39)	R188G	possibly damaging	Het
Hspa13	A	T	16: 75,554,717 (GRCm39)	S456R	probably damaging	Het
Htr1b	T	C	9: 81,514,175 (GRCm39)	Y144C	probably damaging	Het
Hydin	A	G	8: 111,038,856 (GRCm39)	H198R	possibly damaging	Het
Krt78	A	T	15: 101,854,952 (GRCm39)	M953K	probably benign	Het
Lgr5	G	T	10: 115,307,893 (GRCm39)	T255K	probably damaging	Het
Lrp2	T	A	2: 69,268,797 (GRCm39)	D4162V	probably damaging	Het
Map3k2	A	G	18: 32,345,201 (GRCm39)	D342G	probably damaging	Het
Miip	A	G	4: 147,946,979 (GRCm39)	V258A	probably benign	Het
Muc6	T	C	7: 141,238,324 (GRCm39)	H52R	probably damaging	Het
Nfs1	T	C	2: 155,969,660 (GRCm39)	E329G	probably benign	Het
Npsr1	T	C	9: 24,009,605 (GRCm39)	V37A	probably benign	Het
Or1ak2	T	C	2: 36,827,595 (GRCm39)	Y155H	probably damaging	Het
Or1e17	A	T	11: 73,831,664 (GRCm39)	L197F	probably damaging	Het
Or5aq1b	A	C	2: 86,901,904 (GRCm39)	D191E	probably damaging	Het
Pex16	T	A	2: 92,207,842 (GRCm39)	M98K	probably damaging	Het
Pla2r1	C	T	2: 60,285,517 (GRCm39)	C699Y	probably damaging	Het
Plcd4	A	T	1: 74,588,460 (GRCm39)	D103V	probably damaging	Het
Pnpla1	A	G	17: 29,095,966 (GRCm39)	D129G	probably damaging	Het
Rad23a	T	C	8: 85,564,108 (GRCm39)	E265G	possibly damaging	Het
Rbm11	C	T	16: 75,397,696 (GRCm39)	P209S	probably benign	Het
Ribc2	T	A	15: 85,019,703 (GRCm39)	W162R	probably damaging	Het
Rnf4	A	G	5: 34,504,204 (GRCm39)	E32G	possibly damaging	Het
Rpe65	A	T	3: 159,320,154 (GRCm39)	S269C	possibly damaging	Het
Slc7a14	T	A	3: 31,291,558 (GRCm39)	Y240F	probably benign	Het
Sorbs2	C	T	8: 46,258,844 (GRCm39)	P1047L	probably damaging	Het
Ttn	T	C	2: 76,580,166 (GRCm39)	I23576V	probably damaging	Het
Usp24	T	G	4: 106,228,276 (GRCm39)	Y780*	probably null	Het
Wee2	T	C	6: 40,426,665 (GRCm39)	S145P	probably damaging	Het
Zcchc7	A	G	4: 44,931,188 (GRCm39)	T126A	probably benign	Het
Zpld1	A	G	16: 55,061,692 (GRCm39)		probably benign	Het
Zup1	G	A	10: 33,804,107 (GRCm39)	R456C	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
IGL01140:Flt4	APN	11	49,525,770 (GRCm39)	nonsense	probably null
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
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

2016-08-02