Mutagenetix > Incidental Mutation

Incidental Mutation 'R4941:Flt3'

383080

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

042539-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4941 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

147267551-147337299 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 147293185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

no structure available at present

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
A4galt	T	A	15: 83,112,529 (GRCm39)	I85F	probably damaging	Het
Abcc6	T	A	7: 45,661,947 (GRCm39)	I435F	probably benign	Het
Adam3	T	C	8: 25,167,332 (GRCm39)		probably benign	Het
Adrb3	T	C	8: 27,717,450 (GRCm39)	Y333C	probably damaging	Het
Ago4	A	T	4: 126,419,847 (GRCm39)	D43E	probably benign	Het
Agt	T	A	8: 125,283,727 (GRCm39)	Q464L	probably benign	Het
Amdhd1	A	T	10: 93,367,463 (GRCm39)	D230E	probably damaging	Het
Aplf	A	G	6: 87,645,405 (GRCm39)	I33T	probably damaging	Het
Aplf	A	T	6: 87,623,331 (GRCm39)	N249K	probably benign	Het
Arap2	A	G	5: 62,906,821 (GRCm39)	M66T	probably benign	Het
Atf4	T	C	15: 80,140,434 (GRCm39)		probably benign	Het
Bahcc1	A	C	11: 120,177,491 (GRCm39)	H2068P	probably benign	Het
Bcor	C	T	X: 11,906,725 (GRCm39)	R1551Q	probably damaging	Het
Bltp1	A	C	3: 36,971,851 (GRCm39)	H528P	probably damaging	Het
Bltp1	G	A	3: 36,974,050 (GRCm39)	S600N	probably benign	Het
Catsper1	C	A	19: 5,391,466 (GRCm39)	A616D	possibly damaging	Het
Cdkn3	A	G	14: 47,007,320 (GRCm39)	D159G	possibly damaging	Het
Cep162	T	C	9: 87,108,022 (GRCm39)		probably benign	Het
Clca3a1	T	A	3: 144,721,414 (GRCm39)	I386L	probably damaging	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Cmtm3	T	C	8: 105,070,460 (GRCm39)	L73P	probably damaging	Het
Cnksr3	A	C	10: 7,102,925 (GRCm39)	L149R	probably benign	Het
Cope	T	C	8: 70,755,584 (GRCm39)		probably null	Het
Cpa6	T	A	1: 10,479,562 (GRCm39)	M224L	probably benign	Het
Cyp2d41-ps	T	C	15: 82,666,154 (GRCm39)		noncoding transcript	Het
Ddx55	T	A	5: 124,706,779 (GRCm39)	L592*	probably null	Het
Deup1	T	C	9: 15,499,323 (GRCm39)	M333V	probably benign	Het
Eif4a1	T	C	11: 69,558,640 (GRCm39)		probably benign	Het
Eif4g3	A	C	4: 137,897,876 (GRCm39)	D1026A	probably damaging	Het
Eif5b	T	C	1: 38,090,280 (GRCm39)	V1153A	probably damaging	Het
Ercc8	G	T	13: 108,297,301 (GRCm39)		probably benign	Het
Fam227a	C	A	15: 79,524,204 (GRCm39)		probably null	Het
Fat1	A	G	8: 45,489,312 (GRCm39)	I3505V	probably benign	Het
Fat3	T	G	9: 16,286,448 (GRCm39)	E1025A	probably damaging	Het
Fat4	C	T	3: 39,011,601 (GRCm39)	R2234W	probably damaging	Het
Fer1l4	G	T	2: 155,887,009 (GRCm39)	F634L	probably damaging	Het
Fetub	G	A	16: 22,756,624 (GRCm39)	V162I	probably benign	Het
Fgd4	T	C	16: 16,302,402 (GRCm39)	Q51R	probably benign	Het
Fgfr2	T	C	7: 129,800,175 (GRCm39)	H140R	probably benign	Het
Gabrb1	A	G	5: 72,294,121 (GRCm39)	N465S	probably damaging	Het
Gapdhs	T	C	7: 30,432,691 (GRCm39)	I206V	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Glp2r	T	C	11: 67,637,529 (GRCm39)		probably null	Het
Gm4956	T	A	1: 21,368,306 (GRCm39)		noncoding transcript	Het
Gtf2a1l	A	T	17: 89,022,350 (GRCm39)	D447V	probably damaging	Het
Hsd3b5	A	G	3: 98,526,379 (GRCm39)	W356R	probably damaging	Het
Idh2	A	T	7: 79,745,847 (GRCm39)	V335D	probably damaging	Het
Isyna1	T	C	8: 71,048,146 (GRCm39)	I184T	probably damaging	Het
Kcnh2	A	G	5: 24,536,085 (GRCm39)	S320P	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kpna6	A	G	4: 129,541,825 (GRCm39)	F524S	probably damaging	Het
Lap3	A	T	5: 45,663,539 (GRCm39)	M338L	probably benign	Het
Lins1	T	C	7: 66,359,198 (GRCm39)		probably benign	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lrrc43	A	G	5: 123,639,126 (GRCm39)	D385G	probably benign	Het
Maf	T	C	8: 116,433,532 (GRCm39)	D24G	unknown	Het
Nell1	T	C	7: 49,712,386 (GRCm39)	S69P	probably benign	Het
Nkapd1	G	T	9: 50,518,809 (GRCm39)	Q268K	probably benign	Het
Or13p4	C	T	4: 118,547,089 (GRCm39)	V187I	possibly damaging	Het
Or2h1	C	T	17: 37,404,484 (GRCm39)	G94E	probably damaging	Het
Or2j6	T	A	7: 139,980,792 (GRCm39)	M56L	probably benign	Het
Or51af1	T	C	7: 103,141,458 (GRCm39)	D209G	probably damaging	Het
Or5an10	A	G	19: 12,276,260 (GRCm39)	S79P	possibly damaging	Het
Or8g54	T	C	9: 39,707,160 (GRCm39)	M163T	possibly damaging	Het
Oxld1	T	C	11: 120,347,862 (GRCm39)	T112A	probably benign	Het
Parp14	T	C	16: 35,666,403 (GRCm39)	N1210S	probably benign	Het
Pcdhb10	C	A	18: 37,545,887 (GRCm39)	T321K	probably benign	Het
Pcdhb8	C	T	18: 37,489,059 (GRCm39)	L246F	probably benign	Het
Pcdhga1	T	A	18: 37,795,659 (GRCm39)	I221K	probably benign	Het
Pcdhga9	T	A	18: 37,871,185 (GRCm39)	V338E	probably damaging	Het
Pdcd11	T	C	19: 47,108,325 (GRCm39)	S1231P	probably damaging	Het
Pde6c	A	T	19: 38,140,013 (GRCm39)	L325F	probably damaging	Het
Pnpla7	T	A	2: 24,887,276 (GRCm39)		probably null	Het
Pparg	T	A	6: 115,467,071 (GRCm39)	V478E	probably damaging	Het
Ppib	T	C	9: 65,967,672 (GRCm39)	V42A	probably benign	Het
Ppox	T	C	1: 171,105,166 (GRCm39)	M341V	probably damaging	Het
Proc	T	C	18: 32,258,166 (GRCm39)	K260E	possibly damaging	Het
Ptpro	C	T	6: 137,369,763 (GRCm39)	P525L	probably damaging	Het
Rnf14	C	A	18: 38,441,435 (GRCm39)	A275E	probably damaging	Het
Scnn1b	C	T	7: 121,511,231 (GRCm39)	P306L	probably damaging	Het
Sec14l5	A	G	16: 4,994,364 (GRCm39)	E386G	probably damaging	Het
Sftpa1	T	A	14: 40,854,509 (GRCm39)	I32N	probably damaging	Het
Slc26a5	A	G	5: 22,025,384 (GRCm39)	I408T	probably damaging	Het
Slc7a13	A	G	4: 19,841,467 (GRCm39)	Y438C	probably damaging	Het
Spire1	T	C	18: 67,652,384 (GRCm39)	E231G	possibly damaging	Het
Stab1	T	A	14: 30,873,528 (GRCm39)	I1014F	probably benign	Het
Steap2	T	C	5: 5,727,651 (GRCm39)	Y228C	probably damaging	Het
Tmem131l	T	C	3: 83,806,546 (GRCm39)	T1487A	probably benign	Het
Tmem171	A	G	13: 98,828,803 (GRCm39)	F116L	possibly damaging	Het
Tmem215	T	C	4: 40,474,520 (GRCm39)	V199A	probably damaging	Het
Tmem45a	T	C	16: 56,642,652 (GRCm39)	N173S	possibly damaging	Het
Uqcrc2	C	T	7: 120,242,301 (GRCm39)	R148C	probably benign	Het
Vmn2r116	A	G	17: 23,620,116 (GRCm39)	K617E	probably damaging	Het
Xrcc6	T	C	15: 81,924,013 (GRCm39)	L229P	probably damaging	Het
Yju2	A	G	17: 56,271,149 (GRCm39)	D97G	possibly damaging	Het
Zfp184	A	G	13: 22,133,891 (GRCm39)	D46G	probably damaging	Het
Zfp790	T	A	7: 29,528,916 (GRCm39)	C534S	possibly damaging	Het
Zfp990	A	T	4: 145,263,407 (GRCm39)	N135I	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
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'- GTTTATCACAACAGCAAATGGC -3'
(R):5'- ATCACCTGTTGCCATGGATAC -3'

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

Posted On

2016-04-27