Mutagenetix > Incidental Mutation

Incidental Mutation 'R5402:Flt4'

430056

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

042973-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5402 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

49500506-49543566 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

AC to ACC at 49541861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020617 (fasta)

Gene Model

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

AlphaFold

P35917

Predicted Effect

probably null
Transcript: ENSMUST00000020617

SMART Domains

Protein: ENSMUSP00000020617
Gene: ENSMUSG00000020357

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,607,834 (GRCm39)	D4079E	probably benign	Het
Bcar1	T	C	8: 112,440,962 (GRCm39)	D344G	probably damaging	Het
Car9	A	G	4: 43,510,213 (GRCm39)	N265S	probably damaging	Het
Ccr7	A	G	11: 99,036,560 (GRCm39)	S121P	possibly damaging	Het
Cgnl1	A	G	9: 71,536,603 (GRCm39)	L1278P	probably damaging	Het
Chst9	A	T	18: 15,585,872 (GRCm39)	S230R	probably damaging	Het
Cped1	G	A	6: 22,143,951 (GRCm39)	V566M	probably benign	Het
Csf2	A	T	11: 54,138,489 (GRCm39)	Y117*	probably null	Het
Cwf19l1	C	T	19: 44,121,524 (GRCm39)		probably null	Het
Cyp2d34	C	T	15: 82,503,287 (GRCm39)	G69D	probably damaging	Het
Dync2h1	A	T	9: 7,114,949 (GRCm39)	V170E	probably damaging	Het
Ehbp1l1	T	A	19: 5,766,348 (GRCm39)	T388S	possibly damaging	Het
Etfa	T	C	9: 55,362,023 (GRCm39)	I329M	probably benign	Het
Fmnl2	G	A	2: 53,018,794 (GRCm39)	V1078I	probably damaging	Het
Fnip2	A	G	3: 79,388,250 (GRCm39)	L797P	possibly damaging	Het
Gmeb2	A	T	2: 180,897,750 (GRCm39)		probably null	Het
Greb1l	A	G	18: 10,537,169 (GRCm39)	T1045A	probably benign	Het
Hapln1	A	G	13: 89,753,530 (GRCm39)	N232S	probably benign	Het
Hibadh	A	T	6: 52,523,965 (GRCm39)	M311K	probably benign	Het
Hus1	C	T	11: 8,960,240 (GRCm39)		probably null	Het
Il31ra	T	C	13: 112,660,669 (GRCm39)	E640G	probably benign	Het
L3mbtl4	T	C	17: 68,762,769 (GRCm39)	F101L	probably damaging	Het
Lbr	A	T	1: 181,647,526 (GRCm39)	M417K	probably benign	Het
Lrig3	T	G	10: 125,844,609 (GRCm39)	L691R	probably damaging	Het
Mcm3ap	T	A	10: 76,319,148 (GRCm39)	F792Y	probably benign	Het
Mst1	T	C	9: 107,961,408 (GRCm39)		probably null	Het
Nova2	C	A	7: 18,692,371 (GRCm39)	T500K	probably damaging	Het
Nxph4	A	T	10: 127,362,133 (GRCm39)	C253S	probably damaging	Het
Or2t1	T	C	14: 14,328,878 (GRCm38)	Y256H	probably damaging	Het
Or4s2b	T	A	2: 88,508,492 (GRCm39)	S98T	possibly damaging	Het
Pcdhga3	G	A	18: 37,808,747 (GRCm39)	R400Q	probably benign	Het
Pidd1	C	A	7: 141,018,507 (GRCm39)	A915S	probably damaging	Het
Plat	T	G	8: 23,262,738 (GRCm39)	W148G	probably damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Pramel27	G	A	4: 143,578,225 (GRCm39)		probably null	Het
Ptdss1	A	G	13: 67,081,663 (GRCm39)	D31G	possibly damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Samd8	A	G	14: 21,825,236 (GRCm39)	D64G	probably damaging	Het
Scgb1b20	A	G	7: 33,072,656 (GRCm39)		probably null	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc25a23	T	C	17: 57,360,336 (GRCm39)	I269V	probably benign	Het
Slc35f4	A	T	14: 49,556,331 (GRCm39)	S141T	probably damaging	Het
Srgap1	T	C	10: 121,621,665 (GRCm39)	M966V	probably benign	Het
Syne2	T	A	12: 76,106,213 (GRCm39)	V5526E	probably damaging	Het
Tcaf3	A	G	6: 42,568,860 (GRCm39)	S596P	probably benign	Het
Tg	T	A	15: 66,611,017 (GRCm39)	I356N	probably damaging	Het
Ttc6	C	T	12: 57,783,817 (GRCm39)	R1759*	probably null	Het
Wdsub1	T	C	2: 59,700,822 (GRCm39)	N138D	probably benign	Het
Zfp1001	A	G	2: 150,204,886 (GRCm39)	I67V	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
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
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'- TATGCTCCGTGTCTTGGCAG -3'
(R):5'- GTACAGAGTTCAAGGGAGCC -3'

Sequencing Primer
(F):5'- CTTGGCAGCTGTAAAGGTCC -3'
(R):5'- ACTCTTCCTGGATATGGAGGC -3'

Posted On

2016-09-06