Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03059:Flt4'

409385

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 #

IGL03059

Quality Score

Status

Chromosome

Chromosomal Location

49500506-49543566 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 49533134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 1140 (A1140T)

Ref Sequence

ENSEMBL: ENSMUSP00000020617 (fasta)

Gene Model

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

AlphaFold

P35917

Predicted Effect

probably damaging
Transcript: ENSMUST00000020617
AA Change: A1140T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020617
Gene: ENSMUSG00000020357
AA Change: A1140T

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahsg	T	C	16: 22,717,755 (GRCm39)	V244A	possibly damaging	Het
Aoc1l3	A	T	6: 48,964,349 (GRCm39)	Y119F	probably benign	Het
Ccdc187	C	A	2: 26,184,253 (GRCm39)	R48M	probably null	Het
Cnga2	G	A	X: 71,051,878 (GRCm39)	R251H	probably damaging	Het
Cop1	A	C	1: 159,134,279 (GRCm39)	K174Q	probably damaging	Het
Cul9	T	C	17: 46,849,913 (GRCm39)	D512G	probably damaging	Het
Galnt3	C	T	2: 65,923,954 (GRCm39)	R438H	probably damaging	Het
Gatm	G	A	2: 122,440,181 (GRCm39)	A86V	probably damaging	Het
Klhl28	C	T	12: 64,998,340 (GRCm39)	A385T	probably benign	Het
Klhl40	T	A	9: 121,607,203 (GRCm39)	V121E	probably damaging	Het
L1cam	T	A	X: 72,910,630 (GRCm39)	H30L	probably benign	Het
Lss	A	T	10: 76,367,860 (GRCm39)		probably benign	Het
Mrnip	A	T	11: 50,090,596 (GRCm39)	Q253H	probably damaging	Het
Mroh9	A	T	1: 162,852,205 (GRCm39)	F828Y	possibly damaging	Het
Mst1	T	C	9: 107,962,012 (GRCm39)	C668R	probably damaging	Het
Nadk	A	G	4: 155,671,253 (GRCm39)	E143G	probably benign	Het
Nap1l4	C	T	7: 143,080,902 (GRCm39)		probably null	Het
Nme8	A	G	13: 19,836,414 (GRCm39)	I254T	possibly damaging	Het
Or14c41	A	G	7: 86,234,779 (GRCm39)	I99V	probably benign	Het
Or1ab2	T	A	8: 72,863,842 (GRCm39)	L144Q	probably damaging	Het
Or2y12	A	G	11: 49,426,021 (GRCm39)	Y3C	probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Pkd1l3	C	T	8: 110,374,999 (GRCm39)	L1491F	probably damaging	Het
Plec	G	T	15: 76,059,968 (GRCm39)	T3488N	probably damaging	Het
Plk2	T	G	13: 110,535,668 (GRCm39)	S497A	probably benign	Het
Polr1a	G	A	6: 71,913,496 (GRCm39)	V617I	probably benign	Het
Prelid3a	C	A	18: 67,609,909 (GRCm39)	Y112*	probably null	Het
Rnf113a2	C	A	12: 84,464,250 (GRCm39)	S47R	possibly damaging	Het
Rtel1	A	G	2: 180,991,976 (GRCm39)	N410D	probably benign	Het
Ryr3	C	T	2: 112,630,392 (GRCm39)	A2140T	probably damaging	Het
Slc22a29	A	G	19: 8,147,354 (GRCm39)	L336P	probably benign	Het
Sphkap	T	A	1: 83,234,963 (GRCm39)	Q1621L	probably damaging	Het
Trgc1	A	T	13: 19,400,072 (GRCm39)	K123*	probably null	Het
Ttn	T	A	2: 76,739,863 (GRCm39)	S3559C	probably benign	Het
Ubr4	C	T	4: 139,207,987 (GRCm39)	R4923W	probably damaging	Het
Vac14	T	C	8: 111,437,084 (GRCm39)	L599P	probably damaging	Het
Wdr5	T	C	2: 27,409,746 (GRCm39)		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
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

2016-08-02