Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01765:Flt3'

153296

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 #

IGL01765

Quality Score

Status

Chromosome

Chromosomal Location

147267551-147337299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 147294788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 428 (F428L)

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: F428L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039041
Gene: ENSMUSG00000042817
AA Change: F428L

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

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	A	T	17: 43,030,426 (GRCm39)	M11K	probably benign	Het
Agap2	T	C	10: 126,919,104 (GRCm39)	V442A	unknown	Het
Cdh20	C	T	1: 109,988,836 (GRCm39)	T246I	probably damaging	Het
Creb3l1	T	C	2: 91,854,446 (GRCm39)	D2G	possibly damaging	Het
Dicer1	G	A	12: 104,672,999 (GRCm39)	R811C	probably damaging	Het
Drosha	C	A	15: 12,902,766 (GRCm39)	A1012E	probably damaging	Het
Eftud2	A	G	11: 102,730,082 (GRCm39)	I896T	probably damaging	Het
Fastkd5	T	C	2: 130,457,654 (GRCm39)	Y312C	possibly damaging	Het
Hrh4	G	A	18: 13,140,252 (GRCm39)	R49Q	probably damaging	Het
Lrp6	T	C	6: 134,433,108 (GRCm39)	T1408A	probably damaging	Het
Lsg1	T	C	16: 30,400,913 (GRCm39)	E132G	probably damaging	Het
Ltf	T	C	9: 110,851,085 (GRCm39)	V99A	possibly damaging	Het
Mettl13	A	T	1: 162,366,522 (GRCm39)	D452E	probably benign	Het
Ndufa7	G	T	17: 34,048,786 (GRCm39)	E83*	probably null	Het
Nmrk1	C	T	19: 18,616,902 (GRCm39)	T17M	probably damaging	Het
Ntsr1	A	G	2: 180,180,510 (GRCm39)	E272G	possibly damaging	Het
Obscn	T	C	11: 59,006,610 (GRCm39)	K1184R	possibly damaging	Het
Or10z1	T	G	1: 174,077,703 (GRCm39)	K263N	probably damaging	Het
Or11j4	A	T	14: 50,630,291 (GRCm39)	Q26L	probably benign	Het
Or1e21	A	C	11: 73,344,303 (GRCm39)	L245R	probably damaging	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or4a68	C	T	2: 89,270,144 (GRCm39)	V160I	probably benign	Het
Or7e170	A	T	9: 19,795,247 (GRCm39)	M118K	possibly damaging	Het
Pcdhb10	A	G	18: 37,547,072 (GRCm39)	K716R	probably benign	Het
Phldb3	A	G	7: 24,316,800 (GRCm39)	D267G	possibly damaging	Het
Plcb2	T	A	2: 118,540,749 (GRCm39)		probably benign	Het
Pramel17	T	C	4: 101,695,049 (GRCm39)	I87M	probably benign	Het
Pusl1	A	G	4: 155,974,170 (GRCm39)	F219L	probably damaging	Het
Rbbp6	T	C	7: 122,599,177 (GRCm39)		probably benign	Het
Rev3l	T	A	10: 39,704,261 (GRCm39)	D228E	probably benign	Het
Rnf213	A	T	11: 119,327,178 (GRCm39)	M1723L	probably benign	Het
Sc5d	A	G	9: 42,167,464 (GRCm39)	F128S	probably damaging	Het
Sco1	T	C	11: 66,944,616 (GRCm39)	S80P	probably damaging	Het
Supt16	C	T	14: 52,417,680 (GRCm39)	R278H	probably damaging	Het
Supt6	A	G	11: 78,112,985 (GRCm39)	I986T	probably benign	Het
Trio	A	G	15: 27,764,112 (GRCm39)	V860A	possibly damaging	Het
Uck1	A	G	2: 32,148,688 (GRCm39)		probably benign	Het
Vmn2r63	T	C	7: 42,552,788 (GRCm39)	T823A	probably benign	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
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
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

2014-02-04