Mutagenetix > Incidental Mutations

Incidental Mutation 'R4941:Flt3'

383080

Institutional Source

Beutler Lab

Gene Symbol

Flt3

Ensembl Gene

ENSMUSG00000042817

Gene Name

FMS-like tyrosine kinase 3

Synonyms

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

MMRRC Submission

042539-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4941 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

147330741-147400489 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 147356375 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000049324

SMART Domains

Protein: ENSMUSP00000039041
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
internal_repeat_1	380	529	8.53e-14	PROSPERO
TyrKc	611	946	1.7e-140	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000176456

SMART Domains

Protein: ENSMUSP00000135582
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
Pfam:Ig_2	433	530	3.7e-2	PFAM
TyrKc	611	946	1.7e-140	SMART

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.4%
20x: 89.0%

Validation Efficiency

97% (112/116)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	C	3: 36,917,702	H528P	probably damaging	Het
4932438A13Rik	G	A	3: 36,919,901	S600N	probably benign	Het
A4galt	T	A	15: 83,228,328	I85F	probably damaging	Het
Abcc6	T	A	7: 46,012,523	I435F	probably benign	Het
Adam3	T	C	8: 24,677,316		probably benign	Het
Adrb3	T	C	8: 27,227,422	Y333C	probably damaging	Het
Ago4	A	T	4: 126,526,054	D43E	probably benign	Het
Agt	T	A	8: 124,556,988	Q464L	probably benign	Het
Amdhd1	A	T	10: 93,531,601	D230E	probably damaging	Het
Aplf	A	G	6: 87,668,423	I33T	probably damaging	Het
Aplf	A	T	6: 87,646,349	N249K	probably benign	Het
Arap2	A	G	5: 62,749,478	M66T	probably benign	Het
Atf4	T	C	15: 80,256,233		probably benign	Het
AU019823	G	T	9: 50,607,509	Q268K	probably benign	Het
Bahcc1	A	C	11: 120,286,665	H2068P	probably benign	Het
Bcor	C	T	X: 12,040,486	R1551Q	probably damaging	Het
Catsper1	C	A	19: 5,341,438	A616D	possibly damaging	Het
Ccdc94	A	G	17: 55,964,149	D97G	possibly damaging	Het
Cdkn3	A	G	14: 46,769,863	D159G	possibly damaging	Het
Cep162	T	C	9: 87,225,969		probably benign	Het
Clca1	T	A	3: 145,015,653	I386L	probably damaging	Het
Cldn10	G	A	14: 118,788,313	G53S	possibly damaging	Het
Cmtm3	T	C	8: 104,343,828	L73P	probably damaging	Het
Cnksr3	A	C	10: 7,152,925	L149R	probably benign	Het
Cope	T	C	8: 70,302,934		probably null	Het
Cpa6	T	A	1: 10,409,337	M224L	probably benign	Het
Cyp2d41-ps	T	C	15: 82,781,953		noncoding transcript	Het
Ddx55	T	A	5: 124,568,716	L592*	probably null	Het
Deup1	T	C	9: 15,588,027	M333V	probably benign	Het
Eif4a1	T	C	11: 69,667,814		probably benign	Het
Eif4g3	A	C	4: 138,170,565	D1026A	probably damaging	Het
Eif5b	T	C	1: 38,051,199	V1153A	probably damaging	Het
Ercc8	G	T	13: 108,160,767		probably benign	Het
Fam227a	C	A	15: 79,640,003		probably null	Het
Fat1	A	G	8: 45,036,275	I3505V	probably benign	Het
Fat3	T	G	9: 16,375,152	E1025A	probably damaging	Het
Fat4	C	T	3: 38,957,452	R2234W	probably damaging	Het
Fer1l4	G	T	2: 156,045,089	F634L	probably damaging	Het
Fetub	G	A	16: 22,937,874	V162I	probably benign	Het
Fgd4	T	C	16: 16,484,538	Q51R	probably benign	Het
Fgfr2	T	C	7: 130,198,445	H140R	probably benign	Het
Gabrb1	A	G	5: 72,136,778	N465S	probably damaging	Het
Gapdhs	T	C	7: 30,733,266	I206V	probably benign	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Glp2r	T	C	11: 67,746,703		probably null	Het
Gm4956	T	A	1: 21,298,082		noncoding transcript	Het
Gtf2a1l	A	T	17: 88,714,922	D447V	probably damaging	Het
Hsd3b5	A	G	3: 98,619,063	W356R	probably damaging	Het
Idh2	A	T	7: 80,096,099	V335D	probably damaging	Het
Isyna1	T	C	8: 70,595,496	I184T	probably damaging	Het
Kcnh2	A	G	5: 24,331,087	S320P	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Kpna6	A	G	4: 129,648,032	F524S	probably damaging	Het
Lap3	A	T	5: 45,506,197	M338L	probably benign	Het
Lins1	T	C	7: 66,709,450		probably benign	Het
Llgl1	C	T	11: 60,709,568	P581L	probably benign	Het
Lrrc43	A	G	5: 123,501,063	D385G	probably benign	Het
Maf	T	C	8: 115,706,793	D24G	unknown	Het
Nell1	T	C	7: 50,062,638	S69P	probably benign	Het
Olfr1342	C	T	4: 118,689,892	V187I	possibly damaging	Het
Olfr1436	A	G	19: 12,298,896	S79P	possibly damaging	Het
Olfr531	T	A	7: 140,400,879	M56L	probably benign	Het
Olfr609	T	C	7: 103,492,251	D209G	probably damaging	Het
Olfr91	C	T	17: 37,093,592	G94E	probably damaging	Het
Olfr969	T	C	9: 39,795,864	M163T	possibly damaging	Het
Oxld1	T	C	11: 120,457,036	T112A	probably benign	Het
Parp14	T	C	16: 35,846,033	N1210S	probably benign	Het
Pcdhb10	C	A	18: 37,412,834	T321K	probably benign	Het
Pcdhb8	C	T	18: 37,356,006	L246F	probably benign	Het
Pcdhga1	T	A	18: 37,662,606	I221K	probably benign	Het
Pcdhga9	T	A	18: 37,738,132	V338E	probably damaging	Het
Pdcd11	T	C	19: 47,119,886	S1231P	probably damaging	Het
Pde6c	A	T	19: 38,151,565	L325F	probably damaging	Het
Pnpla7	T	A	2: 24,997,264		probably null	Het
Pparg	T	A	6: 115,490,110	V478E	probably damaging	Het
Ppib	T	C	9: 66,060,390	V42A	probably benign	Het
Ppox	T	C	1: 171,277,593	M341V	probably damaging	Het
Proc	T	C	18: 32,125,113	K260E	possibly damaging	Het
Ptpro	C	T	6: 137,392,765	P525L	probably damaging	Het
Rnf14	C	A	18: 38,308,382	A275E	probably damaging	Het
Scnn1b	C	T	7: 121,912,008	P306L	probably damaging	Het
Sec14l5	A	G	16: 5,176,500	E386G	probably damaging	Het
Sftpa1	T	A	14: 41,132,552	I32N	probably damaging	Het
Slc26a5	A	G	5: 21,820,386	I408T	probably damaging	Het
Slc7a13	A	G	4: 19,841,467	Y438C	probably damaging	Het
Spire1	T	C	18: 67,519,314	E231G	possibly damaging	Het
Stab1	T	A	14: 31,151,571	I1014F	probably benign	Het
Steap2	T	C	5: 5,677,651	Y228C	probably damaging	Het
Tmem131l	T	C	3: 83,899,239	T1487A	probably benign	Het
Tmem171	A	G	13: 98,692,295	F116L	possibly damaging	Het
Tmem215	T	C	4: 40,474,520	V199A	probably damaging	Het
Tmem45a	T	C	16: 56,822,289	N173S	possibly damaging	Het
Uqcrc2	C	T	7: 120,643,078	R148C	probably benign	Het
Vmn2r116	A	G	17: 23,401,142	K617E	probably damaging	Het
Xrcc6	T	C	15: 82,039,812	L229P	probably damaging	Het
Zfp184	A	G	13: 21,949,721	D46G	probably damaging	Het
Zfp790	T	A	7: 29,829,491	C534S	possibly damaging	Het
Zfp990	A	T	4: 145,536,837	N135I	probably damaging	Het

Other mutations in Flt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Flt3	APN	5	147354876	missense	probably damaging	1.00
IGL01083:Flt3	APN	5	147354870	missense	probably damaging	1.00
IGL01749:Flt3	APN	5	147358028	missense	probably benign	0.02
IGL01765:Flt3	APN	5	147357978	missense	probably benign
IGL02109:Flt3	APN	5	147350681	missense	probably benign	0.00
IGL02490:Flt3	APN	5	147331296	missense	probably damaging	1.00
IGL02631:Flt3	APN	5	147344552	missense	probably damaging	1.00
IGL03117:Flt3	APN	5	147356210	missense	probably benign
flick	UTSW	5	147341238	missense	probably damaging	1.00
warmflash	UTSW	5	147366918	critical splice donor site	probably null
R0070:Flt3	UTSW	5	147372726	splice site	probably benign
R0070:Flt3	UTSW	5	147372726	splice site	probably benign
R0320:Flt3	UTSW	5	147369579	splice site	probably benign
R0347:Flt3	UTSW	5	147357992	missense	probably damaging	1.00
R0512:Flt3	UTSW	5	147341270	nonsense	probably null
R0968:Flt3	UTSW	5	147341227	missense	possibly damaging	0.46
R1180:Flt3	UTSW	5	147341238	missense	probably damaging	1.00
R1266:Flt3	UTSW	5	147356860	missense	probably benign	0.00
R1562:Flt3	UTSW	5	147344513	missense	probably damaging	1.00
R1803:Flt3	UTSW	5	147367055	nonsense	probably null
R2000:Flt3	UTSW	5	147341238	missense	probably damaging	1.00
R2021:Flt3	UTSW	5	147369490	missense	probably damaging	0.98
R2079:Flt3	UTSW	5	147355083	missense	probably damaging	0.97
R2261:Flt3	UTSW	5	147348063	missense	probably benign	0.00
R2263:Flt3	UTSW	5	147348063	missense	probably benign	0.00
R3087:Flt3	UTSW	5	147348046	missense	probably benign	0.15
R3727:Flt3	UTSW	5	147354923	missense	probably damaging	0.96
R3939:Flt3	UTSW	5	147356243	missense	possibly damaging	0.87
R4469:Flt3	UTSW	5	147375644	splice site	silent
R4527:Flt3	UTSW	5	147356353	missense	probably benign	0.37
R4592:Flt3	UTSW	5	147354699	missense	possibly damaging	0.67
R4655:Flt3	UTSW	5	147349593	missense	possibly damaging	0.51
R4686:Flt3	UTSW	5	147377048	missense	probably damaging	1.00
R4867:Flt3	UTSW	5	147334440	missense	probably damaging	1.00
R4897:Flt3	UTSW	5	147369300	missense	probably damaging	1.00
R5254:Flt3	UTSW	5	147375690	missense	possibly damaging	0.60
R5325:Flt3	UTSW	5	147375649	missense	probably benign	0.00
R5395:Flt3	UTSW	5	147354823	missense	probably damaging	1.00
R5445:Flt3	UTSW	5	147355095	nonsense	probably null
R5469:Flt3	UTSW	5	147355083	missense	possibly damaging	0.63
R5556:Flt3	UTSW	5	147332997	splice site	probably null
R5660:Flt3	UTSW	5	147369481	missense	possibly damaging	0.79
R5879:Flt3	UTSW	5	147334909	missense	probably damaging	1.00
R5885:Flt3	UTSW	5	147349629	missense	probably damaging	1.00
R6554:Flt3	UTSW	5	147375735	missense	probably damaging	0.99
R6813:Flt3	UTSW	5	147354843	missense	probably damaging	0.97
R7451:Flt3	UTSW	5	147349667	missense	probably damaging	1.00
R7469:Flt3	UTSW	5	147331274	missense	probably benign	0.18
R7537:Flt3	UTSW	5	147334437	missense	probably damaging	1.00
R7605:Flt3	UTSW	5	147349576	missense	probably benign	0.01
R7651:Flt3	UTSW	5	147354922	missense	probably damaging	1.00
R7842:Flt3	UTSW	5	147334453	missense	probably damaging	1.00
R8051:Flt3	UTSW	5	147358955	intron	probably benign
R8236:Flt3	UTSW	5	147356860	missense	probably benign	0.00
R8305:Flt3	UTSW	5	147348054	missense	probably damaging	0.96
R8337:Flt3	UTSW	5	147332888	critical splice donor site	probably null
R8680:Flt3	UTSW	5	147383455	missense	probably benign	0.13
R8682:Flt3	UTSW	5	147383455	missense	probably benign	0.13
R8697:Flt3	UTSW	5	147358001	missense	possibly damaging	0.94
R8824:Flt3	UTSW	5	147334863	missense	probably damaging	1.00
R8959:Flt3	UTSW	5	147366964	missense	possibly damaging	0.93
X0018:Flt3	UTSW	5	147367066	missense	possibly damaging	0.54
Z1088:Flt3	UTSW	5	147349564	critical splice donor site	probably null
Z1177:Flt3	UTSW	5	147383401	missense	probably benign	0.27
Z31818:Flt3	UTSW	5	147366918	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GTTTATCACAACAGCAAATGGC -3'
(R):5'- ATCACCTGTTGCCATGGATAC -3'

Sequencing Primer
(F):5'- AAATGGCTGCACACCTGG -3'
(R):5'- CATCTGTAGAAACCCTGC -3'

Posted On

2016-04-27