Mutagenetix > Incidental Mutation

Incidental Mutation 'R0968:Flt3'

83946

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

039097-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0968 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

147267551-147337299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 147278037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 846 (V846I)

Ref Sequence

ENSEMBL: ENSMUSP00000039041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049324]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049324
AA Change: V846I

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039041
Gene: ENSMUSG00000042817
AA Change: V846I

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

0.1315

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 98.0%
20x: 96.7%

Validation Efficiency

94% (34/36)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,772,967 (GRCm39)	V719M	probably damaging	Het
Abca13	A	G	11: 9,248,016 (GRCm39)	S2588G	probably benign	Het
Acaca	C	T	11: 84,129,859 (GRCm39)	Q405*	probably null	Het
Brms1l	G	A	12: 55,912,798 (GRCm39)	D264N	possibly damaging	Het
Cabcoco1	T	C	10: 68,272,202 (GRCm39)	M254V	probably benign	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Coro7	G	C	16: 4,487,919 (GRCm39)		probably benign	Het
Cylc2	A	G	4: 51,216,706 (GRCm39)	M1V	probably null	Het
Cyp3a11	G	A	5: 145,799,324 (GRCm39)		probably benign	Het
Dnah10	C	T	5: 124,906,641 (GRCm39)	T4224M	probably damaging	Het
Dnah2	T	C	11: 69,339,345 (GRCm39)	E3054G	possibly damaging	Het
Dnm3	A	G	1: 161,847,388 (GRCm39)		probably benign	Het
Efcab5	G	A	11: 77,031,749 (GRCm39)	R42W	probably damaging	Het
Fgf12	T	C	16: 27,981,185 (GRCm39)	N177S	probably null	Het
Gm11569	A	T	11: 99,689,250 (GRCm39)		probably benign	Het
Gm12695	A	C	4: 96,650,303 (GRCm39)	V181G	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Lars1	C	A	18: 42,351,648 (GRCm39)	R852L	probably benign	Het
Lca5	T	C	9: 83,305,222 (GRCm39)	T195A	probably benign	Het
Lrrc40	G	A	3: 157,742,426 (GRCm39)	D14N	probably damaging	Het
Map4k2	T	C	19: 6,395,487 (GRCm39)	S327P	probably damaging	Het
Mpp4	A	G	1: 59,169,249 (GRCm39)	F397L	probably damaging	Het
Mtus2	T	C	5: 148,014,994 (GRCm39)	S596P	probably benign	Het
Myo3a	T	A	2: 22,448,301 (GRCm39)	N25K	probably damaging	Het
Nadsyn1	T	C	7: 143,359,770 (GRCm39)	T401A	probably benign	Het
Pde6a	A	T	18: 61,386,809 (GRCm39)	E395D	probably damaging	Het
Plekhm2	A	G	4: 141,357,243 (GRCm39)	V743A	probably benign	Het
Pzp	A	T	6: 128,502,108 (GRCm39)	D80E	probably benign	Het
Rp1	A	T	1: 4,415,575 (GRCm39)	C1846S	probably benign	Het
Shbg	A	G	11: 69,508,014 (GRCm39)	L117P	probably damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slc5a2	G	C	7: 127,869,803 (GRCm39)	R412P	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Supt20	A	G	3: 54,615,821 (GRCm39)		probably benign	Het
Vcpip1	A	T	1: 9,816,604 (GRCm39)	I593N	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAGGTGAAGATCTCATGCCAACCC -3'
(R):5'- ACTTAGGACTCAGCCAGTGTTCTCG -3'

Sequencing Primer
(F):5'- TCTCATGCCAACCCCTAATGG -3'
(R):5'- GACAGTCATGGGTCTCTGTCC -3'

Posted On

2013-11-08