Mutagenetix > Incidental Mutation

Incidental Mutation 'R3087:Flt3'

262862

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

040576-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3087 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

147267551-147337299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 147284856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 754 (S754P)

Ref Sequence

ENSEMBL: ENSMUSP00000039041 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000049324
AA Change: S754P

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000039041
Gene: ENSMUSG00000042817
AA Change: S754P

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

0.2346

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

97% (29/30)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aknad1	C	T	3: 108,664,179 (GRCm39)	Q381*	probably null	Het
Arhgef39	C	T	4: 43,497,581 (GRCm39)		probably null	Het
Cblif	A	T	19: 11,737,737 (GRCm39)	K383*	probably null	Het
Ccdc85a	G	T	11: 28,342,857 (GRCm39)	C113*	probably null	Het
Cdc16	T	C	8: 13,809,004 (GRCm39)	Y19H	probably damaging	Het
Ces2e	T	A	8: 105,657,347 (GRCm39)	M289K	probably benign	Het
Cyp2u1	G	A	3: 131,096,676 (GRCm39)	A34V	probably benign	Het
Dkk2	A	C	3: 131,791,900 (GRCm39)	N36T	probably damaging	Het
Fam222a	A	G	5: 114,750,015 (GRCm39)	S404G	probably damaging	Het
Fbll1	A	T	11: 35,689,017 (GRCm39)	V82E	probably damaging	Het
Fmo5	T	C	3: 97,549,011 (GRCm39)	W220R	probably damaging	Het
Gm7275	A	G	16: 47,894,098 (GRCm39)		noncoding transcript	Het
Gmeb2	G	T	2: 180,897,433 (GRCm39)		probably benign	Het
Ifi44l	T	C	3: 151,468,494 (GRCm39)	H12R	unknown	Het
Itsn2	T	C	12: 4,716,303 (GRCm39)	Y1021H	probably damaging	Het
Map4	T	C	9: 109,882,257 (GRCm39)	S374P	possibly damaging	Het
Map4k4	A	T	1: 40,060,242 (GRCm39)		probably null	Het
Mast4	G	T	13: 102,990,434 (GRCm39)		probably benign	Het
Mdfic	T	A	6: 15,799,668 (GRCm39)	L265H	probably damaging	Het
Pabpc2	A	G	18: 39,907,319 (GRCm39)	I195V	probably benign	Het
Pramel25	A	G	4: 143,520,416 (GRCm39)	D56G	probably benign	Het
Prdm1	T	C	10: 44,322,823 (GRCm39)	Y224C	probably damaging	Het
Spidr	T	C	16: 15,786,483 (GRCm39)	Y420C	probably damaging	Het
Tlr6	A	T	5: 65,111,668 (GRCm39)	M413K	probably damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vmn1r11	A	C	6: 57,114,691 (GRCm39)	K81N	possibly damaging	Het
Vmn2r107	G	A	17: 20,580,607 (GRCm39)	E515K	probably benign	Het
Vstm4	T	C	14: 32,614,592 (GRCm39)	V178A	possibly 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
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'- ACCATGCATGCACACGTGTA -3'
(R):5'- GCAAATCCCAACACACAGATGTTTT -3'

Sequencing Primer
(F):5'- TGCACACGTGTATGCACATAC -3'
(R):5'- TTGACAAGCCAGCATCGTG -3'

Posted On

2015-02-05