Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00941:Mllt1'

29287

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mllt1

Ensembl Gene

ENSMUSG00000024212

Gene Name

myeloid/lymphoid or mixed-lineage leukemia; translocated to, 1

Synonyms

LTG19, BAM11, ENL

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00941

Quality Score

Status

Chromosome

Chromosomal Location

56892612-56935388 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56895086 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 428 (S428R)

Ref Sequence

ENSEMBL: ENSMUSP00000025053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025053]

Predicted Effect

probably damaging
Transcript: ENSMUST00000025053
AA Change: S428R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025053
Gene: ENSMUSG00000024212
AA Change: S428R

Domain	Start	End	E-Value	Type
Pfam:YEATS	29	110	1.9e-28	PFAM
low complexity region	284	299	N/A	INTRINSIC
low complexity region	357	384	N/A	INTRINSIC
low complexity region	399	412	N/A	INTRINSIC
low complexity region	440	464	N/A	INTRINSIC
PDB:2LM0\|A	465	547	3e-31	PDB

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Embryos homozygous for a knock-out allele die prior to E8.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,317,130	I521S	probably damaging	Het
Ace	A	T	11: 105,979,550	K265I	probably benign	Het
Acss3	A	G	10: 107,053,326		probably null	Het
Aldh3a2	A	G	11: 61,262,256	Y215H	probably damaging	Het
Clk2	A	G	3: 89,175,422	M393V	probably damaging	Het
Cyc1	A	G	15: 76,345,165	I242V	probably benign	Het
Evpl	G	A	11: 116,227,901	L657F	probably benign	Het
Fbxw10	G	A	11: 62,873,501	V675M	probably damaging	Het
Fgf21	A	G	7: 45,615,173	V45A	probably damaging	Het
Gm5134	T	C	10: 76,000,421	I412T	possibly damaging	Het
Gnat3	T	C	5: 18,003,751		probably benign	Het
Hk3	C	T	13: 55,014,426		probably null	Het
Ifna12	A	T	4: 88,603,314		probably benign	Het
Ipp	A	G	4: 116,532,659	M471V	possibly damaging	Het
Kcnj1	G	A	9: 32,396,498	V73I	probably benign	Het
Kin	G	A	2: 10,080,704	R25H	probably damaging	Het
Kin	T	C	2: 10,080,706	W26R	probably damaging	Het
Mical2	T	C	7: 112,321,445		probably benign	Het
Ppm1k	T	A	6: 57,524,755	H141L	probably benign	Het
Sept4	G	T	11: 87,589,773	C392F	probably damaging	Het
Slc26a11	T	C	11: 119,379,901	F550L	probably benign	Het
Ssb	T	A	2: 69,870,835		probably null	Het
Stk36	T	A	1: 74,623,934	M588K	possibly damaging	Het
Ubqln4	G	A	3: 88,564,501	A415T	probably benign	Het
Zfp839	C	A	12: 110,860,948	S424R	probably damaging	Het
Zkscan6	G	T	11: 65,814,747	G95W	probably damaging	Het

Other mutations in Mllt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02554:Mllt1	APN	17	56899806	missense	probably benign
IGL03064:Mllt1	APN	17	56900094	missense	probably benign	0.03
Weissblut	UTSW	17	56905819	missense	probably damaging	0.99
R2176:Mllt1	UTSW	17	56897398	missense	probably benign	0.00
R4455:Mllt1	UTSW	17	56919965	missense	probably damaging	1.00
R4760:Mllt1	UTSW	17	56902630	missense	probably benign	0.05
R4864:Mllt1	UTSW	17	56905819	missense	probably damaging	0.99
R4914:Mllt1	UTSW	17	56899813	missense	probably benign
R4916:Mllt1	UTSW	17	56899813	missense	probably benign
R4917:Mllt1	UTSW	17	56899813	missense	probably benign
R4918:Mllt1	UTSW	17	56899813	missense	probably benign
R6169:Mllt1	UTSW	17	56899822	missense	probably benign
R6508:Mllt1	UTSW	17	56927054	missense	probably damaging	1.00
R7216:Mllt1	UTSW	17	56927042	missense	probably damaging	1.00
RF002:Mllt1	UTSW	17	56896300	missense	probably benign	0.09
RF002:Mllt1	UTSW	17	56896301	missense	possibly damaging	0.66

Posted On

2013-04-17