Mutagenetix > Incidental Mutation

Incidental Mutation 'R0600:Flt4'

55332

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

038789-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0600 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

49500506-49543566 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 49527166 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 benign
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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (95/96)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 130,959,389 (GRCm39)	S150P	probably damaging	Het
5530400C23Rik	T	G	6: 133,270,174 (GRCm39)		probably benign	Het
Ahctf1	A	C	1: 179,591,033 (GRCm39)		probably null	Het
Ang5	T	C	14: 44,200,206 (GRCm39)	V90A	probably benign	Het
Ano9	C	T	7: 140,684,623 (GRCm39)	G442R	probably damaging	Het
Apaf1	G	A	10: 90,895,914 (GRCm39)	T386I	probably damaging	Het
Apob	C	A	12: 8,056,440 (GRCm39)	H1608N	probably damaging	Het
Arhgap12	C	A	18: 6,064,433 (GRCm39)		probably benign	Het
Asxl1	T	A	2: 153,241,824 (GRCm39)	D791E	probably benign	Het
Avl9	T	C	6: 56,713,891 (GRCm39)	V383A	probably benign	Het
Btbd1	A	C	7: 81,465,754 (GRCm39)	D197E	probably damaging	Het
Camta2	T	C	11: 70,564,785 (GRCm39)	I938V	possibly damaging	Het
Ccn5	G	A	2: 163,667,233 (GRCm39)	C78Y	probably damaging	Het
Cdca7	C	A	2: 72,313,811 (GRCm39)	A200D	possibly damaging	Het
Cep104	A	T	4: 154,091,249 (GRCm39)	Y923F	possibly damaging	Het
Cep135	G	C	5: 76,769,152 (GRCm39)	V601L	probably benign	Het
Ces2b	G	A	8: 105,562,542 (GRCm39)	G291S	probably benign	Het
Col6a6	C	T	9: 105,638,639 (GRCm39)	G1400D	probably damaging	Het
Cyth2	T	C	7: 45,462,541 (GRCm39)	E1G	probably damaging	Het
Dand5	A	T	8: 85,542,921 (GRCm39)	L185Q	probably damaging	Het
Dck	T	C	5: 88,929,080 (GRCm39)	V253A	probably benign	Het
Ddx20	A	G	3: 105,586,396 (GRCm39)	S650P	probably damaging	Het
Dicer1	G	A	12: 104,673,123 (GRCm39)	P799S	probably damaging	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Eya2	G	A	2: 165,611,157 (GRCm39)	C477Y	probably damaging	Het
Fip1l1	T	A	5: 74,756,503 (GRCm39)	N498K	probably damaging	Het
Galntl6	T	C	8: 58,290,217 (GRCm39)		probably null	Het
Gda	A	T	19: 21,411,667 (GRCm39)	F44I	possibly damaging	Het
Gli2	G	A	1: 118,768,119 (GRCm39)	R703C	probably damaging	Het
Golgb1	T	A	16: 36,736,633 (GRCm39)	L1960Q	probably damaging	Het
Gramd1b	T	C	9: 40,219,651 (GRCm39)	D341G	probably damaging	Het
Grid2	G	T	6: 63,480,419 (GRCm39)	A78S	probably benign	Het
Hao2	A	T	3: 98,790,876 (GRCm39)		probably benign	Het
Hook3	A	G	8: 26,609,014 (GRCm39)	V10A	probably benign	Het
Kif20a	A	G	18: 34,762,262 (GRCm39)	E425G	probably damaging	Het
Lrp1	T	C	10: 127,403,252 (GRCm39)	D2107G	probably benign	Het
Lrriq3	T	C	3: 154,893,373 (GRCm39)	I358T	possibly damaging	Het
Mad2l2	A	G	4: 148,225,381 (GRCm39)	D17G	possibly damaging	Het
Mastl	G	T	2: 23,023,358 (GRCm39)	T455K	probably benign	Het
Mkln1	G	T	6: 31,409,862 (GRCm39)		probably benign	Het
Mmp1b	A	T	9: 7,387,947 (GRCm39)	Y16N	possibly damaging	Het
Mmp24	C	T	2: 155,634,517 (GRCm39)	A79V	probably benign	Het
Mrps35	T	A	6: 146,972,232 (GRCm39)	C292S	possibly damaging	Het
Myom1	T	C	17: 71,427,643 (GRCm39)	F1435L	possibly damaging	Het
Nars2	C	T	7: 96,689,130 (GRCm39)	H351Y	probably damaging	Het
Nat2	A	T	8: 67,953,919 (GRCm39)	I10F	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Olfm5	A	T	7: 103,803,076 (GRCm39)	Y462*	probably null	Het
Or13p5	C	T	4: 118,591,986 (GRCm39)	H87Y	probably damaging	Het
Or1j12	C	A	2: 36,342,660 (GRCm39)	A21E	probably benign	Het
Or2w3	C	A	11: 58,556,986 (GRCm39)	F200L	probably damaging	Het
Or4c122	C	A	2: 89,079,742 (GRCm39)	E87*	probably null	Het
Or4e1	T	C	14: 52,700,966 (GRCm39)	I167V	probably benign	Het
Or5p70	T	A	7: 107,994,438 (GRCm39)	I37N	probably damaging	Het
Or7g35	T	C	9: 19,496,600 (GRCm39)	S256P	possibly damaging	Het
Or8d2b	T	A	9: 38,789,111 (GRCm39)	I213N	probably damaging	Het
Or8g20	A	T	9: 39,396,284 (GRCm39)	F85L	probably benign	Het
Otog	A	T	7: 45,900,819 (GRCm39)		probably benign	Het
Pdcd2l	A	T	7: 33,892,232 (GRCm39)	D212E	possibly damaging	Het
Pex5	T	C	6: 124,381,596 (GRCm39)	N213S	probably benign	Het
Pkn3	C	T	2: 29,971,146 (GRCm39)	P238S	probably benign	Het
Pramel32	A	T	4: 88,547,536 (GRCm39)	I45K	probably damaging	Het
Prl2b1	A	T	13: 27,574,723 (GRCm39)		probably null	Het
Ptprb	A	T	10: 116,204,712 (GRCm39)	I1849L	possibly damaging	Het
Rasal3	G	T	17: 32,612,500 (GRCm39)	S787Y	probably damaging	Het
Scn2a	T	A	2: 65,532,177 (GRCm39)	D596E	possibly damaging	Het
Sdhd	A	T	9: 50,515,064 (GRCm39)	V9D	possibly damaging	Het
Serinc5	T	C	13: 92,844,565 (GRCm39)	S436P	probably damaging	Het
Slc27a1	C	T	8: 72,036,808 (GRCm39)	P348L	probably damaging	Het
Slc28a2b	A	T	2: 122,344,879 (GRCm39)	I162F	probably damaging	Het
Smg1	G	A	7: 117,759,606 (GRCm39)		probably benign	Het
Sorl1	A	T	9: 41,955,196 (GRCm39)		probably benign	Het
Sprtn	T	A	8: 125,626,957 (GRCm39)	H112Q	probably damaging	Het
Tasor2	A	T	13: 3,626,054 (GRCm39)	F1299I	probably benign	Het
Tet2	A	G	3: 133,173,363 (GRCm39)	M1633T	probably benign	Het
Tet2	T	A	3: 133,173,486 (GRCm39)	D1592V	probably benign	Het
Tmem68	A	T	4: 3,569,667 (GRCm39)	C8S	probably damaging	Het
Tnrc6a	T	A	7: 122,771,039 (GRCm39)	I943N	probably benign	Het
Trib2	A	T	12: 15,844,069 (GRCm39)	V191D	probably damaging	Het
Tsc22d4	T	C	5: 137,760,917 (GRCm39)	S113P	probably damaging	Het
Ttc21b	T	C	2: 66,069,914 (GRCm39)	R250G	probably damaging	Het
Ubr2	T	C	17: 47,278,174 (GRCm39)	Y721C	probably damaging	Het
Ubtfl1	A	T	9: 18,320,660 (GRCm39)	I63F	probably damaging	Het
Ush1c	G	A	7: 45,874,332 (GRCm39)	P171S	probably benign	Het
Utp20	A	T	10: 88,603,323 (GRCm39)	N1843K	probably damaging	Het
Vangl1	A	G	3: 102,074,253 (GRCm39)	Y285H	probably damaging	Het
Virma	A	G	4: 11,498,769 (GRCm39)	D70G	probably damaging	Het
Vmn2r102	T	C	17: 19,898,277 (GRCm39)	F431L	probably benign	Het
Wdr17	A	G	8: 55,114,530 (GRCm39)	I662T	probably damaging	Het
Wdr87-ps	T	A	7: 29,232,690 (GRCm39)		noncoding transcript	Het
Zfp160	G	A	17: 21,247,268 (GRCm39)	R606H	probably benign	Het
Zfp369	C	T	13: 65,444,248 (GRCm39)	R464C	probably 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
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

Predicted Primers

PCR Primer
(F):5'- ACCCAGAACTTGTGCCACAGGATG -3'
(R):5'- ATGTGCTGCTAACCCTACAGAGCC -3'

Sequencing Primer
(F):5'- AAGCTCTTTGGGACAGGTCAC -3'
(R):5'- TAACCCTACAGAGCCAGAGG -3'

Posted On

2013-07-11