Mutagenetix > Incidental Mutation

Incidental Mutation 'R4455:Mllt1'

329169

Institutional Source

Beutler Lab

Gene Symbol

Mllt1

Ensembl Gene

ENSMUSG00000024212

Gene Name

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

Synonyms

ENL, BAM11, LTG19

MMRRC Submission

041715-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4455 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57199611-57242415 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57226965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 71 (Y71H)

Ref Sequence

ENSEMBL: ENSMUSP00000025053 (fasta)

Gene Model

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

AlphaFold

Q9ERL0

Predicted Effect

probably damaging
Transcript: ENSMUST00000025053
AA Change: Y71H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025053
Gene: ENSMUSG00000024212
AA Change: Y71H

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

Meta Mutation Damage Score

0.9131

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (61/61)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	G	9: 108,274,395 (GRCm39)	H166R	possibly damaging	Het
Aktip	T	C	8: 91,851,479 (GRCm39)	E248G	probably benign	Het
Ankk1	A	G	9: 49,329,366 (GRCm39)	V336A	probably benign	Het
Aoc1	T	A	6: 48,882,401 (GRCm39)	D92E	probably damaging	Het
Aoc1l3	A	T	6: 48,964,394 (GRCm39)	N134I	possibly damaging	Het
Arfgef2	T	C	2: 166,736,635 (GRCm39)	I1769T	probably benign	Het
Arfgef3	A	T	10: 18,483,423 (GRCm39)	S1434T	probably benign	Het
Baz1a	C	A	12: 54,958,153 (GRCm39)	V1033L	probably benign	Het
Bbs12	T	C	3: 37,374,461 (GRCm39)	V418A	probably damaging	Het
Cacnb4	A	G	2: 52,355,665 (GRCm39)	V214A	probably damaging	Het
Calhm6	A	T	10: 34,002,531 (GRCm39)	I184N	probably damaging	Het
Camk2d	T	C	3: 126,574,052 (GRCm39)	V153A	probably damaging	Het
Ccdc18	C	T	5: 108,309,395 (GRCm39)	S330L	possibly damaging	Het
Cdh11	T	C	8: 103,374,455 (GRCm39)	D500G	probably benign	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Clca4a	G	A	3: 144,663,020 (GRCm39)	P610S	probably damaging	Het
Dctn1	T	C	6: 83,172,031 (GRCm39)	L807P	probably damaging	Het
Dop1b	T	C	16: 93,563,103 (GRCm39)	L869P	probably damaging	Het
Egr2	GAA	GA	10: 67,375,733 (GRCm39)		probably null	Het
Eya1	C	T	1: 14,253,420 (GRCm39)	V519M	probably damaging	Het
Fam227b	T	A	2: 125,988,188 (GRCm39)		probably benign	Het
Fsip2	G	T	2: 82,821,120 (GRCm39)	A5618S	possibly damaging	Het
Grb10	T	G	11: 11,917,665 (GRCm39)	Q72P	possibly damaging	Het
H3f3a	G	T	1: 180,630,668 (GRCm39)	R129S	probably benign	Het
Hfm1	T	C	5: 107,034,374 (GRCm39)		probably null	Het
Kansl1	T	C	11: 104,315,184 (GRCm39)	T285A	possibly damaging	Het
Krtap16-1	A	T	11: 99,876,559 (GRCm39)	C282S	probably benign	Het
Magi1	A	G	6: 93,762,438 (GRCm39)	V89A	probably damaging	Het
Ms4a14	T	A	19: 11,280,990 (GRCm39)	T523S	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Muc5b	T	C	7: 141,412,555 (GRCm39)	S1834P	unknown	Het
Necap1	C	T	6: 122,864,328 (GRCm39)	S270F	possibly damaging	Het
Piwil2	T	C	14: 70,628,014 (GRCm39)	M752V	probably benign	Het
Prune1	G	A	3: 95,189,207 (GRCm39)		probably null	Het
Ptpro	A	G	6: 137,370,657 (GRCm39)	E586G	probably damaging	Het
Rela	T	A	19: 5,697,290 (GRCm39)	I499K	probably damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Scara5	T	A	14: 66,000,196 (GRCm39)	D455E	probably benign	Het
Slc2a4	G	A	11: 69,834,148 (GRCm39)		probably benign	Het
Sntb2	G	A	8: 107,718,239 (GRCm39)		probably null	Het
Sspo	C	T	6: 48,442,450 (GRCm39)	R1982C	probably damaging	Het
Tsen34	G	A	7: 3,698,097 (GRCm39)		probably null	Het
Ttc28	AC	A	5: 111,371,924 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,777,257 (GRCm39)	M1382V	probably benign	Het
Utp18	G	A	11: 93,776,273 (GRCm39)	R71C	probably benign	Het
Xrn1	T	A	9: 95,855,698 (GRCm39)		probably benign	Het
Yeats2	A	G	16: 19,980,743 (GRCm39)	K187R	possibly damaging	Het

Other mutations in Mllt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Mllt1	APN	17	57,202,086 (GRCm39)	missense	probably damaging	1.00
IGL02554:Mllt1	APN	17	57,206,806 (GRCm39)	missense	probably benign
IGL03064:Mllt1	APN	17	57,207,094 (GRCm39)	missense	probably benign	0.03
Weissblut	UTSW	17	57,212,819 (GRCm39)	missense	probably damaging	0.99
R2176:Mllt1	UTSW	17	57,204,398 (GRCm39)	missense	probably benign	0.00
R4760:Mllt1	UTSW	17	57,209,630 (GRCm39)	missense	probably benign	0.05
R4864:Mllt1	UTSW	17	57,212,819 (GRCm39)	missense	probably damaging	0.99
R4914:Mllt1	UTSW	17	57,206,813 (GRCm39)	missense	probably benign
R4916:Mllt1	UTSW	17	57,206,813 (GRCm39)	missense	probably benign
R4917:Mllt1	UTSW	17	57,206,813 (GRCm39)	missense	probably benign
R4918:Mllt1	UTSW	17	57,206,813 (GRCm39)	missense	probably benign
R6169:Mllt1	UTSW	17	57,206,822 (GRCm39)	missense	probably benign
R6508:Mllt1	UTSW	17	57,234,054 (GRCm39)	missense	probably damaging	1.00
R7216:Mllt1	UTSW	17	57,234,042 (GRCm39)	missense	probably damaging	1.00
R8865:Mllt1	UTSW	17	57,207,295 (GRCm39)	missense	possibly damaging	0.89
R9094:Mllt1	UTSW	17	57,212,737 (GRCm39)	missense	probably damaging	1.00
R9485:Mllt1	UTSW	17	57,207,184 (GRCm39)	missense	probably damaging	1.00
R9583:Mllt1	UTSW	17	57,209,572 (GRCm39)	missense	probably benign	0.05
RF002:Mllt1	UTSW	17	57,203,301 (GRCm39)	missense	possibly damaging	0.66
RF002:Mllt1	UTSW	17	57,203,300 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CTCTCAGCCTATGCAAACTGC -3'
(R):5'- TAGCACTTGGTCTGTGGTAGCC -3'

Sequencing Primer
(F):5'- TGCAACTGGCTCAACCTC -3'
(R):5'- TCTGTGGTAGCCTGCCC -3'

Posted On

2015-07-21