Mutagenetix > Incidental Mutations

Incidental Mutation 'R8034:Mlf1'

618118

Institutional Source

Beutler Lab

Gene Symbol

Mlf1

Ensembl Gene

ENSMUSG00000048416

Gene Name

myeloid leukemia factor 1

Synonyms

HLS7

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.397) question?

Stock #

R8034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67374097-67400003 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67384588 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 29 (M29L)

Ref Sequence

ENSEMBL: ENSMUSP00000058596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061322] [ENSMUST00000077916] [ENSMUST00000126628]

Predicted Effect

probably damaging
Transcript: ENSMUST00000061322
AA Change: M29L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000058596
Gene: ENSMUSG00000048416
AA Change: M29L

Domain	Start	End	E-Value	Type
Pfam:Mlf1IP	26	217	7.4e-77	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077916
AA Change: M29L

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000077072
Gene: ENSMUSG00000048416
AA Change: M29L

Domain	Start	End	E-Value	Type
Pfam:Mlf1IP	26	203	1.5e-82	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126628
AA Change: M29L

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141208
Gene: ENSMUSG00000048416
AA Change: M29L

Domain	Start	End	E-Value	Type
Pfam:Mlf1IP	26	69	5.5e-7	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an oncoprotein which is thought to play a role in the phenotypic determination of hemopoetic cells. Translocations between this gene and nucleophosmin have been associated with myelodysplastic syndrome and acute myeloid leukemia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	A	G	7: 101,394,773	T680A	probably damaging	Het
Asb3	C	A	11: 31,081,554	Y391*	probably null	Het
BC067074	A	T	13: 113,342,511	I1530F		Het
Bean1	CT	C	8: 104,182,032		probably null	Het
C130026I21Rik	T	A	1: 85,254,160	T180S	probably benign	Het
Ccdc80	A	G	16: 45,122,875	I783V	probably damaging	Het
Ccnf	A	G	17: 24,231,831	V391A	probably damaging	Het
Cd5l	C	A	3: 87,365,964	A80E	possibly damaging	Het
Chmp2b	A	T	16: 65,546,883	M96K	probably benign	Het
Dennd4a	T	C	9: 64,888,568	S725P	probably benign	Het
Dnah6	T	C	6: 73,129,225	N1843S	probably damaging	Het
Dpy19l3	A	G	7: 35,749,856	F41L	probably benign	Het
Eif3e	A	T	15: 43,272,307	M112K	probably benign	Het
Faim	T	C	9: 98,992,733	V111A	possibly damaging	Het
Fat1	A	G	8: 44,951,691	E493G	probably benign	Het
Fsip2	A	G	2: 82,989,355	D5144G	possibly damaging	Het
Fuz	T	C	7: 44,896,260	M1T	probably null	Het
Ggcx	T	C	6: 72,428,604	V529A	possibly damaging	Het
Gm7145	A	T	1: 117,986,164	T259S	probably benign	Het
Gria2	T	G	3: 80,801,699	T59P	probably damaging	Het
H2-Q10	A	T	17: 35,470,441	I47F	probably damaging	Het
Heatr6	A	G	11: 83,753,909	N63D	probably benign	Het
Ints7	CCGGATCG	CCGGATCGGATCG	1: 191,613,068		probably null	Het
Ints7	GATCG	GATCGTATCG	1: 191,613,071		probably null	Het
Lcn6	T	A	2: 25,676,871	L19*	probably null	Het
Lhcgr	T	C	17: 88,742,356	T581A	probably damaging	Het
Map4k1	T	C	7: 28,988,148	I203T	probably damaging	Het
Mctp1	G	C	13: 76,891,551	L783F	probably damaging	Het
Npas3	T	A	12: 53,640,529	I159N	probably damaging	Het
Nup98	T	C	7: 102,145,723		probably null	Het
Olfr1238	A	G	2: 89,406,737	V114A	probably benign	Het
Olfr1464-ps1	A	G	19: 13,282,851	F69S	probably damaging	Het
Olfr572	A	T	7: 102,928,566	K313*	probably null	Het
Olfr734	T	C	14: 50,320,566	K90E	probably damaging	Het
Olfr867	A	G	9: 20,055,005	F35L	probably benign	Het
Olfr890	T	C	9: 38,143,677	Y176H	probably damaging	Het
Otud3	T	C	4: 138,895,800	S377G	probably benign	Het
Pclo	T	A	5: 14,521,200	S200T	probably damaging	Het
Pex6	G	C	17: 46,722,399	G616A	possibly damaging	Het
Pkhd1	T	A	1: 20,381,438	H2211L	possibly damaging	Het
Sec13	T	C	6: 113,735,089	K95R	probably benign	Het
Sema3c	T	C	5: 17,727,482	V661A	probably damaging	Het
Sema5a	A	G	15: 32,574,841	Y365C	probably damaging	Het
Sprr2h	A	T	3: 92,386,813	E61V	unknown	Het
Tead3	A	C	17: 28,333,229	V365G	probably damaging	Het
Trpm7	T	A	2: 126,846,199	N236I	probably damaging	Het
Ubxn2b	A	G	4: 6,191,167	E13G	probably benign	Het
Zfp639	C	A	3: 32,520,066	A280E	probably damaging	Het

Other mutations in Mlf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02138:Mlf1	APN	3	67399713	missense	probably benign	0.20
IGL02673:Mlf1	APN	3	67393947	missense	probably benign
IGL03308:Mlf1	APN	3	67397807	missense	probably damaging	1.00
R1998:Mlf1	UTSW	3	67395291	missense	probably damaging	1.00
R2281:Mlf1	UTSW	3	67399751	missense	possibly damaging	0.95
R2566:Mlf1	UTSW	3	67384586	missense	possibly damaging	0.56
R4238:Mlf1	UTSW	3	67384577	missense	probably benign	0.01
R5367:Mlf1	UTSW	3	67393963	missense	probably damaging	1.00
R6176:Mlf1	UTSW	3	67384594	missense	probably damaging	1.00
R6326:Mlf1	UTSW	3	67399727	missense	probably damaging	0.97
R6457:Mlf1	UTSW	3	67392944	missense	probably benign	0.12
R7482:Mlf1	UTSW	3	67392894	missense	probably benign	0.39
R7640:Mlf1	UTSW	3	67392933	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- GACTTCTCAGAGTAGTCTTACCTG -3'
(R):5'- TGGAAAATGCCTCCCCTTTCATATAC -3'

Sequencing Primer
(F):5'- GAGTAGTCTTACCTGataaaaatat -3'
(R):5'- GTATGTAACTTACAACATTTGTGCC -3'

Posted On

2020-01-23