Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02631:Flt3'

301288

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Flt3

Ensembl Gene

ENSMUSG00000042817

Gene Name

FMS-like tyrosine kinase 3

Synonyms

CD135, Flk-2, Flt-3, Flk2, wmfl

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02631

Quality Score

Status

Chromosome

Chromosomal Location

147267551-147337299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 147281362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 790 (D790A)

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: D790A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039041
Gene: ENSMUSG00000042817
AA Change: D790A

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

Coding Region Coverage

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2b2	A	G	6: 113,725,506 (GRCm39)	S1242P	probably damaging	Het
Bglap	A	T	3: 88,290,987 (GRCm39)	Y81*	probably null	Het
Ccdc83	T	C	7: 89,893,277 (GRCm39)	D160G	possibly damaging	Het
Cep97	A	T	16: 55,742,541 (GRCm39)	C135*	probably null	Het
Cog1	C	T	11: 113,547,304 (GRCm39)	Q633*	probably null	Het
Cyp4f40	A	T	17: 32,894,609 (GRCm39)		probably benign	Het
Dennd2c	T	A	3: 103,063,387 (GRCm39)	M608K	possibly damaging	Het
Enpp1	A	G	10: 24,517,859 (GRCm39)	S855P	probably damaging	Het
Eprs1	T	C	1: 185,160,095 (GRCm39)	I1457T	probably damaging	Het
Fam149b	G	A	14: 20,425,614 (GRCm39)	V300M	probably damaging	Het
Fcgbp	T	A	7: 27,784,723 (GRCm39)	L261Q	probably damaging	Het
Flt1	G	T	5: 147,610,384 (GRCm39)	S413*	probably null	Het
Gpat2	A	G	2: 127,276,152 (GRCm39)		probably benign	Het
Gpr151	T	C	18: 42,711,835 (GRCm39)	K281R	probably benign	Het
Hoxa5	G	A	6: 52,180,790 (GRCm39)	R181C	probably damaging	Het
Irx4	C	T	13: 73,416,596 (GRCm39)	R331W	probably damaging	Het
Lmo2	T	C	2: 103,811,432 (GRCm39)	I155T	probably benign	Het
Nbeal2	G	A	9: 110,459,276 (GRCm39)	R1944C	probably damaging	Het
Obp2b	A	G	2: 25,629,255 (GRCm39)	N141S	probably damaging	Het
Or4c10b	T	A	2: 89,711,599 (GRCm39)	V143E	possibly damaging	Het
Or4c3d	T	A	2: 89,881,786 (GRCm39)	N294I	probably damaging	Het
Papss2	T	A	19: 32,611,404 (GRCm39)		probably benign	Het
Rapgef2	A	T	3: 78,990,533 (GRCm39)	M915K	possibly damaging	Het
Raver2	A	C	4: 100,953,499 (GRCm39)	D89A	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Setd2	A	G	9: 110,379,644 (GRCm39)	D1153G	possibly damaging	Het
Slc25a12	C	T	2: 71,127,086 (GRCm39)	G365E	possibly damaging	Het
Slc35e4	A	C	11: 3,857,729 (GRCm39)	V292G	probably damaging	Het
Slc36a4	T	C	9: 15,638,237 (GRCm39)	V221A	probably damaging	Het
Slc7a14	C	A	3: 31,292,827 (GRCm39)	A153S	probably damaging	Het
Smc1b	T	C	15: 84,991,204 (GRCm39)	D658G	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tab3	A	G	X: 84,658,139 (GRCm39)	N222S	probably benign	Het
Tdrd6	T	A	17: 43,937,110 (GRCm39)	T1313S	probably damaging	Het
Tnfrsf1b	A	T	4: 144,951,398 (GRCm39)	C181S	probably damaging	Het
Trdn	A	T	10: 33,239,972 (GRCm39)		probably null	Het
Trip12	A	T	1: 84,743,729 (GRCm39)	V526E	possibly damaging	Het
Trps1	T	C	15: 50,709,417 (GRCm39)	D311G	probably damaging	Het
Ttf1	A	G	2: 28,959,912 (GRCm39)	I507V	probably damaging	Het
Unc80	A	C	1: 66,569,222 (GRCm39)	D959A	probably damaging	Het
Unc93b1	T	C	19: 3,992,026 (GRCm39)		probably benign	Het
Utrn	A	G	10: 12,585,807 (GRCm39)	F990S	probably benign	Het
V1rd19	T	C	7: 23,702,825 (GRCm39)	L97P	probably damaging	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
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
R1180:Flt3	UTSW	5	147,278,048 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16