Mutagenetix > Incidental Mutation

Incidental Mutation 'R7640:Mlf1'

590171

Institutional Source

Beutler Lab

Gene Symbol

Mlf1

Ensembl Gene

ENSMUSG00000048416

Gene Name

myeloid leukemia factor 1

Synonyms

HLS7

MMRRC Submission

045698-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.373) question?

Stock #

R7640 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67281430-67307333 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67300266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 94 (M94I)

Ref Sequence

ENSEMBL: ENSMUSP00000058596 (fasta)

Gene Model

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

AlphaFold

Q9QWV4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061322
AA Change: M94I

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000058596
Gene: ENSMUSG00000048416
AA Change: M94I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000077916
AA Change: M79I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000077072
Gene: ENSMUSG00000048416
AA Change: M79I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126628

SMART Domains

Protein: ENSMUSP00000141208
Gene: ENSMUSG00000048416

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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	T	4: 137,181,905 (GRCm39)	N20I	probably damaging	Het
4930558K02Rik	A	G	1: 161,784,718 (GRCm39)	S74P	probably benign	Het
Abcb6	A	T	1: 75,151,489 (GRCm39)		probably null	Het
Adamts14	C	A	10: 61,081,836 (GRCm39)	A234S	probably benign	Het
Ankrd42	A	G	7: 92,268,843 (GRCm39)	S167P	probably benign	Het
Ap3m1	T	C	14: 21,088,243 (GRCm39)	I272V	probably benign	Het
Armt1	T	C	10: 4,403,572 (GRCm39)	F219S	probably damaging	Het
Atr	T	G	9: 95,789,346 (GRCm39)		probably null	Het
Cep72	G	A	13: 74,206,607 (GRCm39)	Q72*	probably null	Het
Clock	G	T	5: 76,396,225 (GRCm39)	L175M	possibly damaging	Het
Cnmd	T	A	14: 79,898,974 (GRCm39)	Y26F	possibly damaging	Het
Col6a6	A	T	9: 105,662,943 (GRCm39)	M198K	possibly damaging	Het
Cuta	C	T	17: 27,157,396 (GRCm39)	V135I	probably benign	Het
Ddx41	A	T	13: 55,682,052 (GRCm39)	M241K	possibly damaging	Het
Dnajc22	A	G	15: 98,998,995 (GRCm39)	N60S	probably damaging	Het
Drc3	A	G	11: 60,279,730 (GRCm39)	M432V	probably benign	Het
Dync2i2	T	G	2: 29,921,780 (GRCm39)	D527A	probably benign	Het
Eef1d	C	A	15: 75,774,556 (GRCm39)	G368C	probably damaging	Het
En2	A	T	5: 28,375,164 (GRCm39)	K236*	probably null	Het
Fas	A	G	19: 34,284,564 (GRCm39)	T24A	possibly damaging	Het
Golga2	T	C	2: 32,196,251 (GRCm39)	V930A	probably benign	Het
Gprin2	G	T	14: 33,917,710 (GRCm39)	A20D	probably benign	Het
Ighv14-4	A	T	12: 114,140,064 (GRCm39)	C115*	probably null	Het
Impdh2	T	C	9: 108,442,380 (GRCm39)	Y459H	possibly damaging	Het
Klhdc7b	G	T	15: 89,271,463 (GRCm39)	V124L	possibly damaging	Het
L2hgdh	A	T	12: 69,768,131 (GRCm39)	Y122*	probably null	Het
Lamc2	A	T	1: 153,012,550 (GRCm39)	I708N	possibly damaging	Het
Large2	T	C	2: 92,205,050 (GRCm39)	M1V	probably null	Het
Lrit2	T	C	14: 36,794,081 (GRCm39)	W382R	probably damaging	Het
Mcee	T	A	7: 64,061,716 (GRCm39)	V173E	probably damaging	Het
Mcph1	T	A	8: 18,682,342 (GRCm39)	V493E	probably benign	Het
Mfap4	A	G	11: 61,377,913 (GRCm39)	N118D	probably damaging	Het
Mknk2	T	C	10: 80,504,400 (GRCm39)	S301G	probably benign	Het
Mrc2	T	A	11: 105,223,121 (GRCm39)	S455T	possibly damaging	Het
Mrgprb5	T	G	7: 47,818,007 (GRCm39)	I243L	probably benign	Het
Muc4	C	A	16: 32,580,479 (GRCm39)	P360T		Het
Nat10	G	A	2: 103,573,435 (GRCm39)	A354V	probably damaging	Het
Nscme3l	T	A	19: 5,553,035 (GRCm39)	S249C	probably damaging	Het
Nts	T	C	10: 102,326,165 (GRCm39)	Q7R	possibly damaging	Het
Oas1b	T	C	5: 120,959,479 (GRCm39)	L288P	probably damaging	Het
Or4a66	T	A	2: 88,531,230 (GRCm39)	I148L	probably benign	Het
Or51k2	A	T	7: 103,596,150 (GRCm39)	I126F	probably damaging	Het
Or5w11	A	G	2: 87,459,436 (GRCm39)	I94V	probably benign	Het
Or8k30	A	G	2: 86,339,287 (GRCm39)	I161M	possibly damaging	Het
Otoa	A	G	7: 120,744,849 (GRCm39)	E869G	probably damaging	Het
Pcdhac2	T	C	18: 37,277,578 (GRCm39)	L186P	probably damaging	Het
Plekhh2	A	G	17: 84,918,204 (GRCm39)	E1271G	possibly damaging	Het
Pmepa1	C	T	2: 173,117,956 (GRCm39)	A8T	probably benign	Het
Pramel24	T	C	4: 143,453,276 (GRCm39)	V128A	probably benign	Het
Rc3h2	A	G	2: 37,267,861 (GRCm39)		probably null	Het
Rlf	T	A	4: 121,003,998 (GRCm39)	M1771L	possibly damaging	Het
Rpap1	G	A	2: 119,594,891 (GRCm39)	P1372L	possibly damaging	Het
Rragd	A	T	4: 32,983,527 (GRCm39)	D22V	probably benign	Het
Sema3f	A	T	9: 107,560,774 (GRCm39)	S644R	probably benign	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spata31h1	T	A	10: 82,130,490 (GRCm39)	N840I	probably damaging	Het
Specc1l	T	A	10: 75,093,703 (GRCm39)	N717K	probably damaging	Het
Sphkap	C	T	1: 83,256,649 (GRCm39)	D367N	possibly damaging	Het
Tbc1d21	C	T	9: 58,268,544 (GRCm39)	V272M	probably damaging	Het
Tlcd4	A	G	3: 121,028,690 (GRCm39)		probably null	Het
Tmem132c	A	G	5: 127,640,070 (GRCm39)	D747G	probably damaging	Het
Trim2	C	A	3: 84,098,213 (GRCm39)	V372F	probably benign	Het
Ttc34	A	G	4: 154,945,841 (GRCm39)	T292A	probably benign	Het
Ube3b	A	G	5: 114,553,384 (GRCm39)	T919A	probably benign	Het
Zfhx4	T	C	3: 5,477,540 (GRCm39)	I3385T	probably benign	Het
Zfp423	T	C	8: 88,507,905 (GRCm39)	K813R	probably damaging	Het
Zfp850	T	C	7: 27,688,634 (GRCm39)	T525A	probably benign	Het
Zfp873	T	C	10: 81,896,109 (GRCm39)	I280T	possibly damaging	Het
Zkscan7	A	G	9: 122,725,121 (GRCm39)	T697A	possibly damaging	Het

Other mutations in Mlf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02138:Mlf1	APN	3	67,307,046 (GRCm39)	missense	probably benign	0.20
IGL02673:Mlf1	APN	3	67,301,280 (GRCm39)	missense	probably benign
IGL03308:Mlf1	APN	3	67,305,140 (GRCm39)	missense	probably damaging	1.00
R1998:Mlf1	UTSW	3	67,302,624 (GRCm39)	missense	probably damaging	1.00
R2281:Mlf1	UTSW	3	67,307,084 (GRCm39)	missense	possibly damaging	0.95
R2566:Mlf1	UTSW	3	67,291,919 (GRCm39)	missense	possibly damaging	0.56
R4238:Mlf1	UTSW	3	67,291,910 (GRCm39)	missense	probably benign	0.01
R5367:Mlf1	UTSW	3	67,301,296 (GRCm39)	missense	probably damaging	1.00
R6176:Mlf1	UTSW	3	67,291,927 (GRCm39)	missense	probably damaging	1.00
R6326:Mlf1	UTSW	3	67,307,060 (GRCm39)	missense	probably damaging	0.97
R6457:Mlf1	UTSW	3	67,300,277 (GRCm39)	missense	probably benign	0.12
R7482:Mlf1	UTSW	3	67,300,227 (GRCm39)	missense	probably benign	0.39
R8034:Mlf1	UTSW	3	67,291,921 (GRCm39)	missense	probably damaging	1.00
R8742:Mlf1	UTSW	3	67,305,119 (GRCm39)	missense	probably damaging	0.98
R8783:Mlf1	UTSW	3	67,291,997 (GRCm39)	missense	probably benign
R9121:Mlf1	UTSW	3	67,307,054 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTACTATGGTTTAAGCAAGCTGAG -3'
(R):5'- GGCTCAGAAGAACATATTGAGATTG -3'

Sequencing Primer
(F):5'- CTATGGTTTAAGCAAGCTGAGAAATG -3'
(R):5'- TGTGACTTTTCAGACTTAAAG -3'

Posted On

2019-10-24