Incidental Mutation 'R2081:Flt1'
| ID |
229477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flt1
|
| Ensembl Gene |
ENSMUSG00000029648 |
| Gene Name |
FMS-like tyrosine kinase 1 |
| Synonyms |
VEGFR-1, VEGFR1, vascular endothelial growth factor receptor-1, Flt-1, sFlt1 |
| MMRRC Submission |
040086-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2081 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
147498414-147662821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 147576232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 592
(L592Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106158
(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: L592Q
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000031653
Gene: ENSMUSG00000029648
AA Change: L592Q
| 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 damaging
Transcript: ENSMUST00000110529
AA Change: L592Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106158
Gene: ENSMUSG00000029648
AA Change: L592Q
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
G |
11: 54,211,085 (GRCm39) |
T28A |
possibly damaging |
Het |
| Actl11 |
G |
A |
9: 107,807,396 (GRCm39) |
G573D |
probably benign |
Het |
| Adam39 |
T |
A |
8: 41,279,879 (GRCm39) |
*757K |
probably null |
Het |
| Agpat4 |
T |
C |
17: 12,370,771 (GRCm39) |
I38T |
possibly damaging |
Het |
| Ap3d1 |
A |
C |
10: 80,568,770 (GRCm39) |
I36S |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 79,863,508 (GRCm39) |
F784L |
probably damaging |
Het |
| Atg5lrt |
T |
C |
10: 95,972,601 (GRCm39) |
I46T |
possibly damaging |
Het |
| Atp10b |
T |
A |
11: 43,092,955 (GRCm39) |
I430N |
probably damaging |
Het |
| Atrip |
T |
A |
9: 108,901,807 (GRCm39) |
|
probably null |
Het |
| C2cd4b |
G |
T |
9: 67,667,859 (GRCm39) |
R285L |
probably damaging |
Het |
| Camta1 |
T |
C |
4: 151,228,699 (GRCm39) |
E711G |
probably benign |
Het |
| Clcn6 |
T |
C |
4: 148,095,525 (GRCm39) |
Y685C |
probably damaging |
Het |
| Col18a1 |
T |
A |
10: 76,890,019 (GRCm39) |
D1447V |
probably damaging |
Het |
| Crispld1 |
T |
A |
1: 17,832,403 (GRCm39) |
V463D |
probably damaging |
Het |
| Crybg2 |
T |
G |
4: 133,816,131 (GRCm39) |
F1612V |
possibly damaging |
Het |
| Dclk1 |
T |
C |
3: 55,429,346 (GRCm39) |
|
probably null |
Het |
| Ddx46 |
G |
T |
13: 55,821,829 (GRCm39) |
V834L |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,852,045 (GRCm39) |
D1734G |
possibly damaging |
Het |
| Dpep1 |
T |
C |
8: 123,926,117 (GRCm39) |
V152A |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,041,275 (GRCm39) |
E301G |
probably damaging |
Het |
| Elf3 |
C |
T |
1: 135,184,814 (GRCm39) |
C124Y |
probably benign |
Het |
| Eno2 |
A |
G |
6: 124,740,088 (GRCm39) |
V316A |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,823,426 (GRCm39) |
E820G |
possibly damaging |
Het |
| Evpl |
A |
T |
11: 116,125,092 (GRCm39) |
H123Q |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,200,503 (GRCm39) |
Y857F |
possibly damaging |
Het |
| Fbrsl1 |
T |
A |
5: 110,519,491 (GRCm39) |
|
probably null |
Het |
| Fbxw7 |
A |
G |
3: 84,881,820 (GRCm39) |
D432G |
probably damaging |
Het |
| Gm14496 |
T |
A |
2: 181,642,272 (GRCm39) |
C648S |
probably damaging |
Het |
| Gm5150 |
A |
T |
3: 16,045,109 (GRCm39) |
S39T |
probably benign |
Het |
| Gse1 |
C |
A |
8: 121,293,219 (GRCm39) |
P177Q |
probably damaging |
Het |
| Heatr4 |
G |
A |
12: 84,027,096 (GRCm39) |
R54W |
probably damaging |
Het |
| Hpgd |
C |
A |
8: 56,760,677 (GRCm39) |
Q125K |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Mast2 |
A |
T |
4: 116,187,671 (GRCm39) |
|
probably null |
Het |
| Mfsd11 |
A |
G |
11: 116,752,381 (GRCm39) |
T177A |
possibly damaging |
Het |
| Mlx |
T |
C |
11: 100,978,257 (GRCm39) |
S36P |
probably benign |
Het |
| Mlxipl |
T |
A |
5: 135,142,492 (GRCm39) |
V102D |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,536,150 (GRCm39) |
Y540H |
probably damaging |
Het |
| Msc |
T |
C |
1: 14,825,941 (GRCm39) |
D11G |
probably benign |
Het |
| Muc4 |
C |
G |
16: 32,574,020 (GRCm39) |
S699R |
probably benign |
Het |
| Nckap1l |
T |
C |
15: 103,405,881 (GRCm39) |
S1106P |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,925,008 (GRCm39) |
E5703G |
possibly damaging |
Het |
| Or2ag1 |
A |
G |
7: 106,313,405 (GRCm39) |
M161T |
probably benign |
Het |
| Pabpn1 |
A |
G |
14: 55,133,115 (GRCm39) |
K38E |
probably damaging |
Het |
| Padi3 |
A |
T |
4: 140,526,290 (GRCm39) |
L141Q |
probably damaging |
Het |
| Pakap |
G |
A |
4: 57,855,927 (GRCm39) |
E419K |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,122,657 (GRCm39) |
N742D |
probably benign |
Het |
| Pex1 |
T |
A |
5: 3,674,132 (GRCm39) |
|
probably null |
Het |
| Pkd2 |
T |
C |
5: 104,608,077 (GRCm39) |
V192A |
probably benign |
Het |
| Ppp6r2 |
T |
A |
15: 89,166,332 (GRCm39) |
M750K |
probably benign |
Het |
| Prdm15 |
A |
T |
16: 97,604,980 (GRCm39) |
Y783* |
probably null |
Het |
| Prox2 |
T |
A |
12: 85,141,782 (GRCm39) |
Q140H |
probably damaging |
Het |
| Psg27 |
A |
T |
7: 18,290,883 (GRCm39) |
I440K |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,496,383 (GRCm39) |
M283T |
probably benign |
Het |
| Sec23a |
G |
A |
12: 59,045,067 (GRCm39) |
Q192* |
probably null |
Het |
| Sh2b1 |
A |
G |
7: 126,071,862 (GRCm39) |
S108P |
possibly damaging |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Tkfc |
G |
A |
19: 10,574,742 (GRCm39) |
A166V |
probably damaging |
Het |
| Tomm70a |
T |
C |
16: 56,961,121 (GRCm39) |
V358A |
probably damaging |
Het |
| Trim47 |
A |
G |
11: 115,997,239 (GRCm39) |
F505S |
probably damaging |
Het |
| Tti2 |
T |
C |
8: 31,641,337 (GRCm39) |
F154L |
possibly damaging |
Het |
| Ubap2l |
C |
T |
3: 89,946,271 (GRCm39) |
G111D |
possibly damaging |
Het |
| Usp9y |
A |
T |
Y: 1,381,277 (GRCm39) |
I848N |
possibly damaging |
Het |
| Veph1 |
T |
C |
3: 65,968,523 (GRCm39) |
Y740C |
probably damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,510,083 (GRCm39) |
H799L |
possibly damaging |
Het |
| Wdr31 |
T |
A |
4: 62,374,180 (GRCm39) |
M270L |
probably benign |
Het |
| Zfp26 |
A |
G |
9: 20,347,913 (GRCm39) |
S884P |
probably benign |
Het |
| Zswim6 |
T |
A |
13: 107,909,930 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Flt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Flt1
|
APN |
5 |
147,517,110 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00469:Flt1
|
APN |
5 |
147,540,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00897:Flt1
|
APN |
5 |
147,526,664 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01111:Flt1
|
APN |
5 |
147,515,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01154:Flt1
|
APN |
5 |
147,512,966 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01744:Flt1
|
APN |
5 |
147,508,271 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01973:Flt1
|
APN |
5 |
147,620,699 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02079:Flt1
|
APN |
5 |
147,505,641 (GRCm39) |
splice site |
probably benign |
|
|
IGL02143:Flt1
|
APN |
5 |
147,515,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02156:Flt1
|
APN |
5 |
147,618,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02345:Flt1
|
APN |
5 |
147,519,436 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02548:Flt1
|
APN |
5 |
147,576,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02631:Flt1
|
APN |
5 |
147,610,384 (GRCm39) |
nonsense |
probably null |
|
|
IGL02686:Flt1
|
APN |
5 |
147,525,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02938:Flt1
|
APN |
5 |
147,615,109 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03057:Flt1
|
APN |
5 |
147,618,734 (GRCm39) |
nonsense |
probably null |
|
|
IGL03196:Flt1
|
APN |
5 |
147,551,937 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03205:Flt1
|
APN |
5 |
147,636,631 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03255:Flt1
|
APN |
5 |
147,525,331 (GRCm39) |
splice site |
probably benign |
|
|
flywheels
|
UTSW |
5 |
147,536,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB008:Flt1
|
UTSW |
5 |
147,525,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB018:Flt1
|
UTSW |
5 |
147,525,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02837:Flt1
|
UTSW |
5 |
147,591,980 (GRCm39) |
missense |
probably benign |
0.32 |
|
PIT4402001:Flt1
|
UTSW |
5 |
147,615,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Flt1
|
UTSW |
5 |
147,507,824 (GRCm39) |
splice site |
probably benign |
|
|
R0380:Flt1
|
UTSW |
5 |
147,525,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0448:Flt1
|
UTSW |
5 |
147,503,204 (GRCm39) |
splice site |
probably benign |
|
|
R0789:Flt1
|
UTSW |
5 |
147,576,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1005:Flt1
|
UTSW |
5 |
147,618,695 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1241:Flt1
|
UTSW |
5 |
147,536,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1302:Flt1
|
UTSW |
5 |
147,501,050 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1411:Flt1
|
UTSW |
5 |
147,517,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1615:Flt1
|
UTSW |
5 |
147,576,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1634:Flt1
|
UTSW |
5 |
147,613,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1749:Flt1
|
UTSW |
5 |
147,591,929 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1768:Flt1
|
UTSW |
5 |
147,609,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1972:Flt1
|
UTSW |
5 |
147,591,903 (GRCm39) |
splice site |
probably benign |
|
|
R2074:Flt1
|
UTSW |
5 |
147,536,416 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2864:Flt1
|
UTSW |
5 |
147,531,431 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2865:Flt1
|
UTSW |
5 |
147,531,431 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3740:Flt1
|
UTSW |
5 |
147,536,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3820:Flt1
|
UTSW |
5 |
147,636,827 (GRCm39) |
splice site |
probably benign |
|
|
R4089:Flt1
|
UTSW |
5 |
147,501,051 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4299:Flt1
|
UTSW |
5 |
147,620,717 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4570:Flt1
|
UTSW |
5 |
147,531,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4812:Flt1
|
UTSW |
5 |
147,620,749 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4853:Flt1
|
UTSW |
5 |
147,620,749 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4865:Flt1
|
UTSW |
5 |
147,620,749 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4900:Flt1
|
UTSW |
5 |
147,620,749 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4906:Flt1
|
UTSW |
5 |
147,620,749 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4907:Flt1
|
UTSW |
5 |
147,620,749 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4909:Flt1
|
UTSW |
5 |
147,620,749 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5072:Flt1
|
UTSW |
5 |
147,620,749 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5073:Flt1
|
UTSW |
5 |
147,620,749 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5074:Flt1
|
UTSW |
5 |
147,620,749 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5218:Flt1
|
UTSW |
5 |
147,618,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5547:Flt1
|
UTSW |
5 |
147,591,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5731:Flt1
|
UTSW |
5 |
147,614,962 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5732:Flt1
|
UTSW |
5 |
147,571,293 (GRCm39) |
nonsense |
probably null |
|
|
R5804:Flt1
|
UTSW |
5 |
147,517,247 (GRCm39) |
splice site |
probably null |
|
|
R6107:Flt1
|
UTSW |
5 |
147,540,403 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6440:Flt1
|
UTSW |
5 |
147,501,115 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6453:Flt1
|
UTSW |
5 |
147,620,751 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6539:Flt1
|
UTSW |
5 |
147,515,186 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7068:Flt1
|
UTSW |
5 |
147,610,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7112:Flt1
|
UTSW |
5 |
147,540,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7195:Flt1
|
UTSW |
5 |
147,540,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7255:Flt1
|
UTSW |
5 |
147,517,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7347:Flt1
|
UTSW |
5 |
147,517,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7469:Flt1
|
UTSW |
5 |
147,540,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7473:Flt1
|
UTSW |
5 |
147,531,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7663:Flt1
|
UTSW |
5 |
147,591,930 (GRCm39) |
missense |
probably benign |
|
|
R7688:Flt1
|
UTSW |
5 |
147,613,135 (GRCm39) |
missense |
probably benign |
|
|
R7729:Flt1
|
UTSW |
5 |
147,637,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7931:Flt1
|
UTSW |
5 |
147,525,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8051:Flt1
|
UTSW |
5 |
147,519,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8275:Flt1
|
UTSW |
5 |
147,614,957 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8434:Flt1
|
UTSW |
5 |
147,576,253 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8442:Flt1
|
UTSW |
5 |
147,512,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8756:Flt1
|
UTSW |
5 |
147,576,224 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8855:Flt1
|
UTSW |
5 |
147,618,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8855:Flt1
|
UTSW |
5 |
147,507,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9165:Flt1
|
UTSW |
5 |
147,552,047 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9240:Flt1
|
UTSW |
5 |
147,618,676 (GRCm39) |
missense |
probably benign |
|
|
R9439:Flt1
|
UTSW |
5 |
147,515,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9658:Flt1
|
UTSW |
5 |
147,525,377 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0064:Flt1
|
UTSW |
5 |
147,610,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Flt1
|
UTSW |
5 |
147,618,459 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGAGAACTTCTGTCTTCCGAAG -3'
(R):5'- TCCTGCTGAGAGAATCCAAATG -3'
Sequencing Primer
(F):5'- CGAAGGATGTCTTCCCCTGTG -3'
(R):5'- TGCTGAGAGAATCCAAATGTGAATAC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation