Mutagenetix > Incidental Mutation

Incidental Mutation 'R4168:Flt4'

320666

Institutional Source

Beutler Lab

Gene Symbol

Flt4

Ensembl Gene

ENSMUSG00000020357

Gene Name

FMS-like tyrosine kinase 4

Synonyms

VEGFR3, VEGFR-3, Flt-4

MMRRC Submission

041009-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4168 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49500506-49543566 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 49521400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 440 (R440H)

Ref Sequence

ENSEMBL: ENSMUSP00000020617 (fasta)

Gene Model

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

AlphaFold

P35917

Predicted Effect

probably benign
Transcript: ENSMUST00000020617
AA Change: R440H

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000020617
Gene: ENSMUSG00000020357
AA Change: R440H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152253

Meta Mutation Damage Score

0.1169

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (39/40)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C3	A	T	17: 57,525,608 (GRCm39)	F883I	probably benign	Het
Cbr4	T	A	8: 61,944,555 (GRCm39)		probably benign	Het
Cd200r3	T	A	16: 44,774,552 (GRCm39)	D188E	probably benign	Het
Chpf2	T	C	5: 24,796,788 (GRCm39)	V578A	possibly damaging	Het
Clasrp	A	G	7: 19,315,079 (GRCm39)		probably benign	Het
Cmip	A	T	8: 118,183,656 (GRCm39)	N743I	probably damaging	Het
Ctif	A	C	18: 75,770,286 (GRCm39)	L33R	probably damaging	Het
Dmap1	T	A	4: 117,538,507 (GRCm39)	H54L	possibly damaging	Het
Elk3	A	G	10: 93,101,197 (GRCm39)		probably null	Het
Fcgbpl1	T	C	7: 27,836,534 (GRCm39)	L151P	probably benign	Het
Gabrb2	A	T	11: 42,312,155 (GRCm39)		probably benign	Het
Gm12789	A	G	4: 101,847,159 (GRCm39)	Y148C	possibly damaging	Het
Haspin	A	G	11: 73,026,848 (GRCm39)	L747P	probably damaging	Het
Intu	C	T	3: 40,627,053 (GRCm39)	P278L	probably benign	Het
Kif27	A	G	13: 58,493,562 (GRCm39)	I127T	probably benign	Het
Mogat1	T	C	1: 78,488,672 (GRCm39)	V25A	possibly damaging	Het
Nop14	A	G	5: 34,814,088 (GRCm39)	S157P	probably damaging	Het
Or5al6	A	G	2: 85,976,523 (GRCm39)	I185T	probably benign	Het
Or5d39	T	C	2: 87,980,189 (GRCm39)	H58R	probably damaging	Het
Or5k3	A	T	16: 58,969,363 (GRCm39)	Y50F	probably benign	Het
Oxct2b	T	C	4: 123,011,478 (GRCm39)	L466P	probably damaging	Het
Padi6	A	G	4: 140,469,245 (GRCm39)	C32R	probably damaging	Het
Pla2r1	A	T	2: 60,327,958 (GRCm39)	Y501*	probably null	Het
Rb1cc1	G	A	1: 6,300,248 (GRCm39)	V8I	probably damaging	Het
Rexo5	A	G	7: 119,426,621 (GRCm39)		probably benign	Het
Slco1a7	T	C	6: 141,684,673 (GRCm39)	I261V	probably benign	Het
Tmem119	T	C	5: 113,933,048 (GRCm39)	E251G	probably benign	Het
Vmn2r112	T	A	17: 22,822,069 (GRCm39)	M249K	probably benign	Het
Zc2hc1a	A	G	3: 7,583,451 (GRCm39)	T41A	probably benign	Het
Zfp128	A	G	7: 12,624,289 (GRCm39)	D219G	probably benign	Het
Znrf2	T	C	6: 54,840,945 (GRCm39)	V173A	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACATCAGTCTGGAGCTGGTG -3'
(R):5'- AGGAGCATGCCTCATTTGGG -3'

Sequencing Primer
(F):5'- GGTGAATGGTATAGCCCCG -3'
(R):5'- AGCTTGGGAAATTTGTCTCCC -3'

Posted On

2015-06-12