Incidental Mutation 'R3508:Flt4'
| ID |
267473 |
| 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 |
040664-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3508 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
49500506-49543566 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49524941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 596
(S596P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020617]
|
| AlphaFold |
P35917 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020617
AA Change: S596P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020617
Gene: ENSMUSG00000020357
AA Change: S596P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,953,991 (GRCm39) |
F816L |
probably benign |
Het |
| Adgrl3 |
C |
A |
5: 81,872,103 (GRCm39) |
N932K |
probably damaging |
Het |
| Apol8 |
T |
C |
15: 77,633,643 (GRCm39) |
E311G |
probably damaging |
Het |
| Atad2b |
G |
A |
12: 5,000,595 (GRCm39) |
|
probably null |
Het |
| Carmil1 |
A |
G |
13: 24,203,659 (GRCm39) |
|
probably benign |
Het |
| Cdc20b |
T |
C |
13: 113,217,576 (GRCm39) |
S332P |
possibly damaging |
Het |
| Cep162 |
A |
G |
9: 87,114,030 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
A |
10: 92,721,286 (GRCm39) |
S2482C |
unknown |
Het |
| Cnpy1 |
T |
C |
5: 28,412,365 (GRCm39) |
E107G |
probably damaging |
Het |
| Crtac1 |
C |
T |
19: 42,293,180 (GRCm39) |
V310I |
probably benign |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Elmo1 |
T |
C |
13: 20,789,402 (GRCm39) |
I706T |
probably damaging |
Het |
| F12 |
T |
C |
13: 55,568,872 (GRCm39) |
T297A |
probably benign |
Het |
| Fanci |
A |
G |
7: 79,083,220 (GRCm39) |
I736V |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,148,247 (GRCm39) |
N2667S |
probably benign |
Het |
| Fndc1 |
G |
A |
17: 7,983,940 (GRCm39) |
R1329* |
probably null |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
| H2-M10.1 |
T |
G |
17: 36,636,506 (GRCm39) |
R99S |
possibly damaging |
Het |
| Homer3 |
T |
A |
8: 70,744,005 (GRCm39) |
V243D |
probably benign |
Het |
| Hspa14 |
A |
G |
2: 3,492,045 (GRCm39) |
S437P |
probably damaging |
Het |
| Inpp1 |
A |
T |
1: 52,838,550 (GRCm39) |
I33N |
probably damaging |
Het |
| Ipo5 |
T |
A |
14: 121,176,956 (GRCm39) |
Y714N |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,461,026 (GRCm39) |
E898G |
possibly damaging |
Het |
| Klhdc7b |
T |
A |
15: 89,271,095 (GRCm39) |
M1K |
probably null |
Het |
| Krt87 |
A |
G |
15: 101,386,039 (GRCm39) |
Y241H |
probably benign |
Het |
| Mfsd4b1 |
A |
G |
10: 39,878,715 (GRCm39) |
I394T |
probably benign |
Het |
| Micall1 |
A |
G |
15: 79,006,965 (GRCm39) |
D264G |
probably damaging |
Het |
| Mms22l |
T |
G |
4: 24,586,224 (GRCm39) |
D905E |
probably benign |
Het |
| Musk |
A |
G |
4: 58,327,347 (GRCm39) |
D217G |
probably damaging |
Het |
| Napb |
T |
C |
2: 148,540,880 (GRCm39) |
T236A |
probably benign |
Het |
| Nbn |
T |
A |
4: 15,962,387 (GRCm39) |
D38E |
probably damaging |
Het |
| Ncaph |
T |
C |
2: 126,969,113 (GRCm39) |
N87D |
probably benign |
Het |
| Or4a78 |
A |
G |
2: 89,497,816 (GRCm39) |
V138A |
probably benign |
Het |
| Pcdhb13 |
T |
A |
18: 37,576,204 (GRCm39) |
V194E |
probably damaging |
Het |
| Pck1 |
T |
C |
2: 173,000,177 (GRCm39) |
V536A |
possibly damaging |
Het |
| Pld5 |
C |
T |
1: 175,821,603 (GRCm39) |
G188S |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,590,179 (GRCm39) |
V48A |
probably damaging |
Het |
| Pnkd |
A |
G |
1: 74,389,793 (GRCm39) |
T306A |
probably benign |
Het |
| Ppm1k |
T |
C |
6: 57,491,975 (GRCm39) |
E279G |
probably damaging |
Het |
| Ppm1l |
G |
T |
3: 69,456,813 (GRCm39) |
K243N |
possibly damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,838,801 (GRCm39) |
T26A |
probably damaging |
Het |
| Rtel1 |
T |
C |
2: 180,964,202 (GRCm39) |
V67A |
probably benign |
Het |
| Rxfp4 |
T |
C |
3: 88,559,899 (GRCm39) |
E184G |
probably damaging |
Het |
| Scp2d1 |
A |
G |
2: 144,665,918 (GRCm39) |
I86V |
probably benign |
Het |
| Sec16a |
G |
T |
2: 26,315,862 (GRCm39) |
P1718Q |
probably damaging |
Het |
| Sgcg |
T |
A |
14: 61,459,195 (GRCm39) |
T245S |
probably benign |
Het |
| Slc18a2 |
A |
G |
19: 59,261,989 (GRCm39) |
T215A |
probably benign |
Het |
| Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
| Sox17 |
G |
T |
1: 4,562,378 (GRCm39) |
P146Q |
probably damaging |
Het |
| Spata31d1e |
A |
T |
13: 59,890,319 (GRCm39) |
Y500* |
probably null |
Het |
| Stimate |
C |
T |
14: 30,594,537 (GRCm39) |
L217F |
probably damaging |
Het |
| Sybu |
T |
A |
15: 44,536,478 (GRCm39) |
E616V |
probably damaging |
Het |
| Tk2 |
C |
T |
8: 104,957,825 (GRCm39) |
V174I |
probably benign |
Het |
| Tmc5 |
G |
A |
7: 118,244,618 (GRCm39) |
V499I |
probably benign |
Het |
| Tonsl |
T |
C |
15: 76,523,956 (GRCm39) |
T15A |
probably benign |
Het |
| Ttll12 |
A |
G |
15: 83,464,831 (GRCm39) |
I448T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,584,101 (GRCm39) |
S22336P |
probably damaging |
Het |
| Ubap1 |
C |
A |
4: 41,379,163 (GRCm39) |
H126N |
probably damaging |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,226,777 (GRCm39) |
N354D |
probably damaging |
Het |
| Vpreb3 |
A |
C |
10: 75,785,037 (GRCm39) |
H45P |
probably benign |
Het |
| Zc3h13 |
T |
A |
14: 75,546,380 (GRCm39) |
Y160* |
probably null |
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 |
|
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'- AAGCAGAGACAGTGTCACTCG -3'
(R):5'- CACGGACAGGTACTTCTTGTGG -3'
Sequencing Primer
(F):5'- AGAGACAGTGTCACTCGGGTTC -3'
(R):5'- TGCACTTCACACACGTAGTC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation