Mutagenetix > Incidental Mutation

Incidental Mutation 'R6554:Flt3'

521838

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

044679-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6554 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

147267551-147337299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 147312545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Tryptophan at position 132 (L132W)

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: L132W

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039041
Gene: ENSMUSG00000042817
AA Change: L132W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000110549

SMART Domains

Protein: ENSMUSP00000106178
Gene: ENSMUSG00000042817

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (37/37)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,618,246 (GRCm39)	R180C	probably damaging	Het
B3galt9	C	A	2: 34,729,276 (GRCm39)	S358R	probably benign	Het
Ces1b	C	A	8: 93,791,619 (GRCm39)	V327L	probably benign	Het
Cps1	C	T	1: 67,213,628 (GRCm39)	R787*	probably null	Het
Dmrt2	C	T	19: 25,655,312 (GRCm39)	P304S	probably damaging	Het
Dop1b	A	G	16: 93,557,346 (GRCm39)	D429G	probably benign	Het
Dync1h1	T	A	12: 110,616,282 (GRCm39)	M3111K	probably benign	Het
Dync2h1	A	G	9: 7,037,699 (GRCm39)	V3393A	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fam184a	T	C	10: 53,517,063 (GRCm39)	D1007G	possibly damaging	Het
Gm14322	G	A	2: 177,410,220 (GRCm39)	S60N	possibly damaging	Het
Katnip	C	T	7: 125,449,914 (GRCm39)	R993C	probably damaging	Het
Kcnj16	T	A	11: 110,916,131 (GRCm39)	Y264*	probably null	Het
Klkb1	T	A	8: 45,726,591 (GRCm39)	I471F	probably damaging	Het
Lrfn4	T	C	19: 4,663,914 (GRCm39)	T207A	probably damaging	Het
Mfsd4b5	T	A	10: 39,862,428 (GRCm39)	T32S	probably benign	Het
Mtbp	A	G	15: 55,430,645 (GRCm39)	D234G	probably damaging	Het
Nfix	T	C	8: 85,454,279 (GRCm39)	T218A	possibly damaging	Het
Nsd3	A	T	8: 26,152,891 (GRCm39)	E410D	probably damaging	Het
Or4g17	C	T	2: 111,209,504 (GRCm39)	S53F	possibly damaging	Het
Or5aq7	A	T	2: 86,937,970 (GRCm39)	S254T	probably benign	Het
Reln	T	C	5: 22,101,838 (GRCm39)	Y3364C	probably damaging	Het
Selplg	G	A	5: 113,958,210 (GRCm39)	P32L	probably benign	Het
Serpina1d	A	T	12: 103,731,062 (GRCm39)	H305Q	probably benign	Het
Skic8	A	T	9: 54,634,929 (GRCm39)	I88N	probably damaging	Het
Skint8	G	A	4: 111,784,413 (GRCm39)	C13Y	probably benign	Het
Smc4	G	A	3: 68,936,848 (GRCm39)	V863I	probably benign	Het
Spdl1	T	G	11: 34,713,397 (GRCm39)	N224T	possibly damaging	Het
Sprr1b	T	G	3: 92,344,420 (GRCm39)	Q152P	possibly damaging	Het
St6gal1	A	G	16: 23,140,405 (GRCm39)	N192S	probably benign	Het
Tbc1d8	T	C	1: 39,445,903 (GRCm39)	N96S	probably damaging	Het
Tbccd1	A	T	16: 22,640,874 (GRCm39)	I501K	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Unk	T	C	11: 115,942,285 (GRCm39)	I293T	probably damaging	Het
Vmn2r61	A	G	7: 41,926,139 (GRCm39)	E548G	probably damaging	Het
Wdr97	A	G	15: 76,239,178 (GRCm39)	D85G	possibly damaging	Het
Zeb2	A	T	2: 44,887,524 (GRCm39)	V496E	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
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
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'- TTGGTGACCCCAGAGATGAG -3'
(R):5'- TTAGGTACAAGTCACAGCCG -3'

Sequencing Primer
(F):5'- GTGGAAGCACACTAGGTCC -3'
(R):5'- CTGATTGTGCCCAAGATGAGC -3'

Posted On

2018-06-06