Incidental Mutation 'R1180:Flt3'
| ID |
101470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flt3
|
| Ensembl Gene |
ENSMUSG00000042817 |
| Gene Name |
FMS-like tyrosine kinase 3 |
| Synonyms |
CD135, Flk-2, Flt-3, Flk2, wmfl |
| MMRRC Submission |
039252-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1180 (G1)
|
| Quality Score |
94 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
147267551-147337299 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 147278048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 842
(D842G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049324]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049324
AA Change: D842G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039041
Gene: ENSMUSG00000042817
AA Change: D842G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
18 |
N/A |
INTRINSIC |
|
IG
|
79 |
162 |
1.87e0 |
SMART |
|
IG
|
258 |
346 |
2.57e0 |
SMART |
|
internal_repeat_1
|
380 |
529 |
8.53e-14 |
PROSPERO |
|
TyrKc
|
611 |
946 |
1.7e-140 |
SMART |
|
| Meta Mutation Damage Score |
0.6581 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 87.5%
|
| Validation Efficiency |
98% (55/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice functionally null for this gene display abnormal lymphopoiesis. Homozygous ENU mutant mice are sensitive to infection by mouse cytomegalovirus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,275,141 (GRCm39) |
D281E |
probably benign |
Het |
| Adam24 |
T |
G |
8: 41,134,467 (GRCm39) |
V645G |
probably damaging |
Het |
| Apcdd1 |
A |
T |
18: 63,070,168 (GRCm39) |
Y145F |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,457,836 (GRCm38) |
|
probably benign |
Het |
| Camk1d |
A |
T |
2: 5,366,836 (GRCm39) |
Y126* |
probably null |
Het |
| Chd8 |
A |
C |
14: 52,458,565 (GRCm39) |
S848A |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,709,577 (GRCm39) |
K1873R |
unknown |
Het |
| Cpd |
T |
C |
11: 76,692,579 (GRCm39) |
T753A |
possibly damaging |
Het |
| Cxcr2 |
A |
T |
1: 74,197,527 (GRCm39) |
D7V |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,690,413 (GRCm39) |
E173G |
possibly damaging |
Het |
| EU599041 |
G |
A |
7: 42,875,731 (GRCm39) |
|
noncoding transcript |
Het |
| Fer1l6 |
G |
A |
15: 58,474,160 (GRCm39) |
|
probably benign |
Het |
| Foxp4 |
G |
C |
17: 48,191,278 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,805,570 (GRCm39) |
Y630H |
probably damaging |
Het |
| Gprin3 |
C |
A |
6: 59,331,921 (GRCm39) |
V129F |
possibly damaging |
Het |
| Gstm1 |
A |
G |
3: 107,922,127 (GRCm39) |
F170S |
probably damaging |
Het |
| Hoxa3 |
A |
C |
6: 52,147,382 (GRCm39) |
Y290* |
probably null |
Het |
| Htra4 |
G |
T |
8: 25,523,735 (GRCm39) |
L277I |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,259,899 (GRCm39) |
Y266C |
probably damaging |
Het |
| Kif6 |
T |
A |
17: 50,139,284 (GRCm39) |
|
probably benign |
Het |
| Kiz |
C |
T |
2: 146,811,927 (GRCm39) |
R679C |
unknown |
Het |
| Kyat3 |
A |
C |
3: 142,443,531 (GRCm39) |
|
probably null |
Het |
| Mipep |
G |
A |
14: 61,071,505 (GRCm39) |
V537I |
probably damaging |
Het |
| Mrpl44 |
T |
A |
1: 79,755,677 (GRCm39) |
N94K |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,103,167 (GRCm39) |
T168S |
possibly damaging |
Het |
| Mx2 |
G |
A |
16: 97,357,209 (GRCm39) |
R434H |
probably damaging |
Het |
| Myh6 |
A |
G |
14: 55,181,925 (GRCm39) |
I1792T |
possibly damaging |
Het |
| Myo16 |
T |
C |
8: 10,446,908 (GRCm39) |
S450P |
probably damaging |
Het |
| Nherf4 |
T |
A |
9: 44,160,543 (GRCm39) |
D284V |
probably benign |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or3a1b |
A |
G |
11: 74,012,406 (GRCm39) |
Y97C |
probably benign |
Het |
| Or5d16 |
G |
A |
2: 87,773,490 (GRCm39) |
L161F |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Pkhd1 |
C |
T |
1: 20,655,381 (GRCm39) |
|
probably null |
Het |
| Psmd8 |
A |
T |
7: 28,874,825 (GRCm39) |
V248E |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,301,285 (GRCm39) |
Y646C |
probably damaging |
Het |
| Samsn1 |
C |
T |
16: 75,670,536 (GRCm39) |
G189E |
probably damaging |
Het |
| Sec61g |
A |
C |
11: 16,454,722 (GRCm39) |
|
probably benign |
Het |
| Sfmbt2 |
C |
T |
2: 10,406,877 (GRCm39) |
H59Y |
probably damaging |
Het |
| Shb |
T |
C |
4: 45,423,996 (GRCm39) |
I486V |
possibly damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Spag16 |
G |
A |
1: 69,962,817 (GRCm39) |
|
probably benign |
Het |
| Spink13 |
A |
G |
18: 62,741,241 (GRCm39) |
|
probably benign |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tk1 |
A |
G |
11: 117,712,921 (GRCm39) |
|
probably null |
Het |
| Tnni3k |
A |
T |
3: 154,581,150 (GRCm39) |
H600Q |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,800,047 (GRCm39) |
I387N |
probably damaging |
Het |
| Ube2q2 |
T |
C |
9: 55,102,700 (GRCm39) |
|
probably benign |
Het |
| Utp14b |
C |
A |
1: 78,643,162 (GRCm39) |
N353K |
probably damaging |
Het |
| Zfp474 |
C |
T |
18: 52,771,814 (GRCm39) |
Q156* |
probably null |
Het |
|
| Other mutations in Flt3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Flt3
|
APN |
5 |
147,291,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01083:Flt3
|
APN |
5 |
147,291,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01749:Flt3
|
APN |
5 |
147,294,838 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01765:Flt3
|
APN |
5 |
147,294,788 (GRCm39) |
missense |
probably benign |
|
|
IGL02109:Flt3
|
APN |
5 |
147,287,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02490:Flt3
|
APN |
5 |
147,268,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02631:Flt3
|
APN |
5 |
147,281,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03117:Flt3
|
APN |
5 |
147,293,020 (GRCm39) |
missense |
probably benign |
|
|
flick
|
UTSW |
5 |
147,278,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
warmflash
|
UTSW |
5 |
147,303,728 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0070:Flt3
|
UTSW |
5 |
147,309,536 (GRCm39) |
splice site |
probably benign |
|
|
R0070:Flt3
|
UTSW |
5 |
147,309,536 (GRCm39) |
splice site |
probably benign |
|
|
R0320:Flt3
|
UTSW |
5 |
147,306,389 (GRCm39) |
splice site |
probably benign |
|
|
R0347:Flt3
|
UTSW |
5 |
147,294,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0512:Flt3
|
UTSW |
5 |
147,278,080 (GRCm39) |
nonsense |
probably null |
|
|
R0968:Flt3
|
UTSW |
5 |
147,278,037 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1266:Flt3
|
UTSW |
5 |
147,293,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1562:Flt3
|
UTSW |
5 |
147,281,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1803:Flt3
|
UTSW |
5 |
147,303,865 (GRCm39) |
nonsense |
probably null |
|
|
R2000:Flt3
|
UTSW |
5 |
147,278,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2021:Flt3
|
UTSW |
5 |
147,306,300 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2079:Flt3
|
UTSW |
5 |
147,291,893 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2261:Flt3
|
UTSW |
5 |
147,284,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2263:Flt3
|
UTSW |
5 |
147,284,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3087:Flt3
|
UTSW |
5 |
147,284,856 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3727:Flt3
|
UTSW |
5 |
147,291,733 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3939:Flt3
|
UTSW |
5 |
147,293,053 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4469:Flt3
|
UTSW |
5 |
147,312,454 (GRCm39) |
splice site |
silent |
|
|
R4527:Flt3
|
UTSW |
5 |
147,293,163 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4592:Flt3
|
UTSW |
5 |
147,291,509 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4655:Flt3
|
UTSW |
5 |
147,286,403 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4686:Flt3
|
UTSW |
5 |
147,313,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4867:Flt3
|
UTSW |
5 |
147,271,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4897:Flt3
|
UTSW |
5 |
147,306,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Flt3
|
UTSW |
5 |
147,293,185 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5254:Flt3
|
UTSW |
5 |
147,312,500 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5325:Flt3
|
UTSW |
5 |
147,312,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5395:Flt3
|
UTSW |
5 |
147,291,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5445:Flt3
|
UTSW |
5 |
147,291,905 (GRCm39) |
nonsense |
probably null |
|
|
R5469:Flt3
|
UTSW |
5 |
147,291,893 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5556:Flt3
|
UTSW |
5 |
147,269,807 (GRCm39) |
splice site |
probably null |
|
|
R5660:Flt3
|
UTSW |
5 |
147,306,291 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5879:Flt3
|
UTSW |
5 |
147,271,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5885:Flt3
|
UTSW |
5 |
147,286,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6554:Flt3
|
UTSW |
5 |
147,312,545 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6813:Flt3
|
UTSW |
5 |
147,291,653 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7451:Flt3
|
UTSW |
5 |
147,286,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7469:Flt3
|
UTSW |
5 |
147,268,084 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7537:Flt3
|
UTSW |
5 |
147,271,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7605:Flt3
|
UTSW |
5 |
147,286,386 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7651:Flt3
|
UTSW |
5 |
147,291,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7842:Flt3
|
UTSW |
5 |
147,271,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8051:Flt3
|
UTSW |
5 |
147,295,765 (GRCm39) |
intron |
probably benign |
|
|
R8236:Flt3
|
UTSW |
5 |
147,293,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8305:Flt3
|
UTSW |
5 |
147,284,864 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8337:Flt3
|
UTSW |
5 |
147,269,698 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8680:Flt3
|
UTSW |
5 |
147,320,265 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8682:Flt3
|
UTSW |
5 |
147,320,265 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8697:Flt3
|
UTSW |
5 |
147,294,811 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8824:Flt3
|
UTSW |
5 |
147,271,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8959:Flt3
|
UTSW |
5 |
147,303,774 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9235:Flt3
|
UTSW |
5 |
147,320,202 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9324:Flt3
|
UTSW |
5 |
147,313,790 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9544:Flt3
|
UTSW |
5 |
147,291,442 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9570:Flt3
|
UTSW |
5 |
147,309,424 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9622:Flt3
|
UTSW |
5 |
147,303,841 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9668:Flt3
|
UTSW |
5 |
147,293,694 (GRCm39) |
missense |
probably benign |
0.13 |
|
X0018:Flt3
|
UTSW |
5 |
147,303,876 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
Z1088:Flt3
|
UTSW |
5 |
147,286,374 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Flt3
|
UTSW |
5 |
147,320,211 (GRCm39) |
missense |
probably benign |
0.27 |
|
Z31818:Flt3
|
UTSW |
5 |
147,303,728 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGTGAAGATCTCATGCCAACCC -3'
(R):5'- ACTTAGGACTCAGCCAGTGTTCTCG -3'
Sequencing Primer
(F):5'- GCTTAGCTCTTAGTGAGCACAAAAC -3'
(R):5'- GACAGTCATGGGTCTCTGTCC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation