Mutagenetix > Incidental Mutation

Incidental Mutation 'R7729:Flt1'

595698

Institutional Source

Beutler Lab

Gene Symbol

Flt1

Ensembl Gene

ENSMUSG00000029648

Gene Name

FMS-like tyrosine kinase 1

Synonyms

Flt-1, VEGFR1, vascular endothelial growth factor receptor-1, sFlt1, VEGFR-1

MMRRC Submission

045785-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7729 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

147561604-147726011 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 147700367 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 39 (T39S)

Ref Sequence

ENSEMBL: ENSMUSP00000031653 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031653] [ENSMUST00000110529]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031653
AA Change: T39S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000031653
Gene: ENSMUSG00000029648
AA Change: T39S

Domain	Start	End	E-Value	Type
IG	38	130	1.74e-3	SMART
IG	144	225	1.49e-2	SMART
IG	238	330	2.23e-10	SMART
IG	345	426	2.43e-2	SMART
IG	440	554	2.6e-2	SMART
IGc2	569	644	1.76e-8	SMART
IGc2	674	739	6.29e-19	SMART
low complexity region	769	786	N/A	INTRINSIC
TyrKc	828	1154	9.54e-144	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110529
AA Change: T39S

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106158
Gene: ENSMUSG00000029648
AA Change: T39S

Domain	Start	End	E-Value	Type
IG	38	130	1.74e-3	SMART
IG	144	225	1.49e-2	SMART
IG	238	330	2.23e-10	SMART
IG	345	426	2.43e-2	SMART
IG	440	554	2.6e-2	SMART
IGc2	569	644	1.76e-8	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit an excess of hemangioblasts resulting in an overgrowth of endothelial cells, abnormalities of vascular channels and blood islands, and lethality at the mid-somite developmental stage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	C	T	13: 59,741,623	M794I	not run	Het
1810024B03Rik	T	G	2: 127,186,790	D163A	possibly damaging	Het
Abce1	A	T	8: 79,687,908	I454N	probably damaging	Het
Acaca	A	G	11: 84,371,513	I1980M	probably damaging	Het
Adgrb2	C	T	4: 129,992,124	T19M	probably benign	Het
Agmo	T	A	12: 37,414,975	S417T	probably benign	Het
Akap8l	T	C	17: 32,333,094	E403G	probably damaging	Het
Art5	C	T	7: 102,098,504	A23T	possibly damaging	Het
Atg9a	T	C	1: 75,184,560	T681A	probably benign	Het
Atp11b	A	G	3: 35,778,107	Q37R	probably damaging	Het
Atp2a2	T	C	5: 122,491,766	E80G	probably benign	Het
AW551984	G	A	9: 39,599,775	P172L	possibly damaging	Het
Bace1	C	T	9: 45,858,445	R296C	probably damaging	Het
Ccser1	T	A	6: 61,311,856	H334Q	probably benign	Het
Chtf18	C	T	17: 25,723,517	R449H	probably damaging	Het
Cit	A	G	5: 115,984,822	H1384R	possibly damaging	Het
Cltc	A	G	11: 86,721,648	I524T	probably benign	Het
Dctn1	T	A	6: 83,183,060	I94N	probably damaging	Het
Ddx58	T	A	4: 40,206,034	I853F	possibly damaging	Het
Dnhd1	A	T	7: 105,705,265	D3078V	probably damaging	Het
Dock7	G	A	4: 99,055,446	P520S		Het
Epb41l4a	C	A	18: 33,854,273	K350N	probably damaging	Het
Eprs	T	A	1: 185,413,169	Y1130N	probably damaging	Het
Fcgrt	T	C	7: 45,095,373	T224A	probably damaging	Het
Fxyd1	T	C	7: 31,053,471	Y33C	probably damaging	Het
Gab2	T	A	7: 97,301,426	V442E	probably damaging	Het
Ganab	A	G	19: 8,914,712	D800G	probably benign	Het
Gata4	C	A	14: 63,240,737	A138S	probably benign	Het
Golga4	A	G	9: 118,556,063	H751R	possibly damaging	Het
Hist1h1t	A	G	13: 23,696,472	R203G	possibly damaging	Het
Htra4	A	G	8: 25,037,077	V234A	possibly damaging	Het
Igkv4-74	A	T	6: 69,184,970	Y72N	probably damaging	Het
Iqsec3	T	C	6: 121,383,981	K973E	probably damaging	Het
Khdc1b	C	A	1: 21,384,841	T108K	probably benign	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 142,296,596		probably benign	Het
Kyat3	A	G	3: 142,726,305		probably null	Het
Lrba	T	A	3: 86,318,167	V666E	probably damaging	Het
Mettl25	T	A	10: 105,766,010	Y528F	probably benign	Het
Mms19	A	T	19: 41,952,465	Y619*	probably null	Het
Nlrp12	A	C	7: 3,228,388		probably null	Het
Nol10	C	T	12: 17,424,675	L623F	possibly damaging	Het
Oas1g	A	G	5: 120,886,000	F82S	probably damaging	Het
Olfr1537	G	A	9: 39,238,250	P58L	probably benign	Het
Olfr195	C	T	16: 59,149,207	A119V	probably damaging	Het
Olfr335-ps	T	G	2: 36,301,760	S74A	probably benign	Het
Oxr1	G	A	15: 41,823,467	E582K	probably damaging	Het
Pdia3	A	G	2: 121,432,357	D268G	possibly damaging	Het
Pramef12	T	C	4: 144,392,864	S378G	probably damaging	Het
Rcor3	A	G	1: 192,101,778	Y387H	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,911		probably benign	Het
Rsl1	T	C	13: 67,182,220	L244P	possibly damaging	Het
Scn5a	G	T	9: 119,495,540	N1407K	probably damaging	Het
Sdcbp	C	T	4: 6,378,985	A24V	probably benign	Het
Slc22a8	A	G	19: 8,593,959	Y18C	possibly damaging	Het
Slc35d1	C	T	4: 103,214,847	R7H	probably damaging	Het
Slco6d1	A	T	1: 98,497,523	T599S	probably damaging	Het
St18	T	A	1: 6,802,537	H165Q	probably benign	Het
Sub1	C	T	15: 11,986,503	R86K	probably damaging	Het
Tectb	G	A	19: 55,192,672	V148M		Het
Tgfb2	C	A	1: 186,630,757	G290V	possibly damaging	Het
Tgm7	T	C	2: 121,093,710	H577R	probably benign	Het
Tle2	T	C	10: 81,587,147	S460P	probably damaging	Het
Tmem221	C	A	8: 71,558,802	R3L	possibly damaging	Het
Tnfrsf19	C	A	14: 60,974,734	V156L	possibly damaging	Het
Trav6-5	A	G	14: 53,491,507	K75E	probably benign	Het
Trip10	G	A	17: 57,262,442	G488S	probably damaging	Het
Usp34	A	C	11: 23,449,268	K2419T		Het
Vps13d	T	C	4: 145,075,052	Q3532R		Het
Vps4a	A	T	8: 107,040,897	I163L	probably damaging	Het
Wrn	T	C	8: 33,324,426	H330R	probably benign	Het
Xpr1	T	C	1: 155,312,872	I341V	probably benign	Het
Zfyve9	T	C	4: 108,691,776	E105G	probably benign	Het

Other mutations in Flt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Flt1	APN	5	147580300	critical splice donor site	probably null
IGL00469:Flt1	APN	5	147603605	missense	probably damaging	0.99
IGL00897:Flt1	APN	5	147589854	missense	probably benign	0.25
IGL01111:Flt1	APN	5	147578336	missense	probably damaging	1.00
IGL01154:Flt1	APN	5	147576156	missense	possibly damaging	0.63
IGL01744:Flt1	APN	5	147571461	missense	probably benign	0.01
IGL01973:Flt1	APN	5	147683889	missense	probably benign	0.01
IGL02079:Flt1	APN	5	147568831	splice site	probably benign
IGL02143:Flt1	APN	5	147578436	missense	probably benign	0.00
IGL02156:Flt1	APN	5	147681741	missense	probably damaging	0.99
IGL02345:Flt1	APN	5	147582626	missense	probably benign	0.20
IGL02548:Flt1	APN	5	147639248	missense	probably benign	0.00
IGL02631:Flt1	APN	5	147673574	nonsense	probably null
IGL02686:Flt1	APN	5	147588602	missense	probably damaging	1.00
IGL02938:Flt1	APN	5	147678299	missense	possibly damaging	0.47
IGL03057:Flt1	APN	5	147681924	nonsense	probably null
IGL03196:Flt1	APN	5	147615127	critical splice donor site	probably null
IGL03205:Flt1	APN	5	147699821	missense	probably benign	0.00
IGL03255:Flt1	APN	5	147588521	splice site	probably benign
flywheels	UTSW	5	147599646	missense	probably damaging	1.00
BB008:Flt1	UTSW	5	147588572	missense	probably damaging	1.00
BB018:Flt1	UTSW	5	147588572	missense	probably damaging	1.00
IGL02837:Flt1	UTSW	5	147655170	missense	probably benign	0.32
PIT4402001:Flt1	UTSW	5	147678239	missense	probably damaging	1.00
R0013:Flt1	UTSW	5	147571014	splice site	probably benign
R0380:Flt1	UTSW	5	147588572	missense	probably damaging	1.00
R0448:Flt1	UTSW	5	147566394	splice site	probably benign
R0789:Flt1	UTSW	5	147639483	missense	probably damaging	1.00
R1005:Flt1	UTSW	5	147681885	missense	probably damaging	0.99
R1241:Flt1	UTSW	5	147599646	missense	probably damaging	1.00
R1302:Flt1	UTSW	5	147564240	missense	possibly damaging	0.93
R1411:Flt1	UTSW	5	147580316	missense	probably damaging	1.00
R1615:Flt1	UTSW	5	147639288	missense	probably damaging	1.00
R1634:Flt1	UTSW	5	147676430	missense	probably damaging	1.00
R1749:Flt1	UTSW	5	147655119	missense	probably benign	0.00
R1768:Flt1	UTSW	5	147672709	missense	probably damaging	1.00
R1972:Flt1	UTSW	5	147655093	splice site	probably benign
R2074:Flt1	UTSW	5	147599606	missense	possibly damaging	0.82
R2081:Flt1	UTSW	5	147639422	missense	probably damaging	1.00
R2864:Flt1	UTSW	5	147594621	missense	possibly damaging	0.68
R2865:Flt1	UTSW	5	147594621	missense	possibly damaging	0.68
R3740:Flt1	UTSW	5	147599593	missense	probably damaging	1.00
R3820:Flt1	UTSW	5	147700017	splice site	probably benign
R4089:Flt1	UTSW	5	147564241	missense	probably benign	0.03
R4299:Flt1	UTSW	5	147683907	missense	probably benign	0.00
R4570:Flt1	UTSW	5	147594613	missense	probably damaging	1.00
R4812:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R4853:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R4865:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R4900:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R4906:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R4907:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R4909:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R5072:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R5073:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R5074:Flt1	UTSW	5	147683939	missense	probably benign	0.30
R5218:Flt1	UTSW	5	147681928	missense	probably damaging	1.00
R5547:Flt1	UTSW	5	147655138	missense	probably damaging	1.00
R5731:Flt1	UTSW	5	147678152	missense	probably benign	0.16
R5732:Flt1	UTSW	5	147634483	nonsense	probably null
R5804:Flt1	UTSW	5	147580437	splice site	probably null
R6107:Flt1	UTSW	5	147603593	missense	probably benign	0.15
R6440:Flt1	UTSW	5	147564305	missense	possibly damaging	0.79
R6453:Flt1	UTSW	5	147683941	missense	possibly damaging	0.80
R6539:Flt1	UTSW	5	147578376	missense	probably benign	0.27
R7068:Flt1	UTSW	5	147673634	missense	probably damaging	1.00
R7112:Flt1	UTSW	5	147603569	missense	probably damaging	1.00
R7195:Flt1	UTSW	5	147603576	missense	probably damaging	1.00
R7255:Flt1	UTSW	5	147580406	missense	probably damaging	1.00
R7347:Flt1	UTSW	5	147580381	missense	probably damaging	1.00
R7469:Flt1	UTSW	5	147603569	missense	probably damaging	1.00
R7473:Flt1	UTSW	5	147594595	missense	probably damaging	1.00
R7663:Flt1	UTSW	5	147655120	missense	probably benign
R7688:Flt1	UTSW	5	147676325	missense	probably benign
R7931:Flt1	UTSW	5	147588572	missense	probably damaging	1.00
R8051:Flt1	UTSW	5	147582691	missense	probably benign	0.02
R8275:Flt1	UTSW	5	147678147	missense	probably damaging	0.99
R8434:Flt1	UTSW	5	147639443	missense	probably damaging	0.97
R8442:Flt1	UTSW	5	147576173	missense	probably damaging	1.00
R8756:Flt1	UTSW	5	147639414	missense	probably benign	0.07
R8855:Flt1	UTSW	5	147570872	missense	probably benign	0.00
R8855:Flt1	UTSW	5	147681650	missense	probably damaging	1.00
R9165:Flt1	UTSW	5	147615237	missense	probably damaging	0.99
R9240:Flt1	UTSW	5	147681866	missense	probably benign
R9439:Flt1	UTSW	5	147578397	missense	probably damaging	1.00
R9658:Flt1	UTSW	5	147588567	missense	probably damaging	0.97
X0064:Flt1	UTSW	5	147673613	missense	probably damaging	1.00
Z1088:Flt1	UTSW	5	147681649	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TCCTTCAAGGTGACAAATCCTCTATG -3'
(R):5'- ATGAGTGACATCCCGAAGCTAC -3'

Sequencing Primer
(F):5'- GGTGACAAATCCTCTATGTGAAGC -3'
(R):5'- TTGTCATGAAGTCCAGGCCAG -3'

Posted On

2019-11-12