Mutagenetix > Incidental Mutation

Incidental Mutation 'R8871:Mllt3'

676267

Institutional Source

Beutler Lab

Gene Symbol

Mllt3

Ensembl Gene

ENSMUSG00000028496

Gene Name

myeloid/lymphoid or mixed-lineage leukemia; translocated to, 3

Synonyms

Af9, 3830408D16Rik, 2210011H10Rik, D4Ertd321e, 2610012I03Rik

MMRRC Submission

068685-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8871 (G1)

Quality Score

103.467

Status

Not validated

Chromosome

Chromosomal Location

87688162-87951601 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

ACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT to ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT at 87759552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078090] [ENSMUST00000142454]

AlphaFold

A2AM29

Predicted Effect

probably benign
Transcript: ENSMUST00000078090

SMART Domains

Protein: ENSMUSP00000077232
Gene: ENSMUSG00000028496

Domain	Start	End	E-Value	Type
Pfam:YEATS	29	110	2.3e-29	PFAM
SCOP:d1l9ha_	126	173	9e-3	SMART
internal_repeat_1	195	214	9.17e-5	PROSPERO
internal_repeat_1	206	225	9.17e-5	PROSPERO
low complexity region	226	246	N/A	INTRINSIC
low complexity region	291	314	N/A	INTRINSIC
SCOP:d1qbkb_	315	467	7e-4	SMART
PDB:2LM0\|A	485	569	3e-48	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000142454

SMART Domains

Protein: ENSMUSP00000127376
Gene: ENSMUSG00000028496

Domain	Start	End	E-Value	Type
Pfam:YEATS	26	66	2.6e-15	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

99% (76/77)

MGI Phenotype

PHENOTYPE: About 50% of homozygous null mice die perinatally while the remaining 50% become runted and die within two weeks of birth with severe defects of the axial skeleton, including anterior homeotic transformation of the cervical and thoracic regions, a deformed atlas and an extra cervical vertebra. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,248,071 (GRCm39)	M2606R	probably benign	Het
Abcg5	C	T	17: 84,990,295 (GRCm39)	E3K	probably benign	Het
Adam20	A	C	8: 41,248,601 (GRCm39)	H237P	probably damaging	Het
Alg3	T	C	16: 20,424,684 (GRCm39)	Y361C	probably damaging	Het
Ano8	A	T	8: 71,931,944 (GRCm39)	Y752N	probably benign	Het
AW551984	A	T	9: 39,500,998 (GRCm39)	L759*	probably null	Het
Bdp1	A	C	13: 100,186,175 (GRCm39)	V1759G	probably damaging	Het
Bicdl2	C	A	17: 23,885,777 (GRCm39)	Q273K	probably damaging	Het
Cc2d2a	A	T	5: 43,857,285 (GRCm39)	T491S	possibly damaging	Het
Cdkl2	A	G	5: 92,164,989 (GRCm39)	S545P	possibly damaging	Het
Ceacam5	T	A	7: 17,494,827 (GRCm39)	I945K	probably benign	Het
Celf1	A	G	2: 90,840,840 (GRCm39)	Y369C	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Col14a1	T	G	15: 55,245,958 (GRCm39)	D487E	unknown	Het
Crybg3	T	C	16: 59,378,519 (GRCm39)	N912D	probably benign	Het
Cstl1	A	G	2: 148,596,554 (GRCm39)	T86A	probably damaging	Het
Dixdc1	C	T	9: 50,595,096 (GRCm39)	V482M	possibly damaging	Het
Dmbt1	T	C	7: 130,718,597 (GRCm39)	Y1773H	unknown	Het
Dock4	T	C	12: 40,795,730 (GRCm39)	I849T	probably benign	Het
Fbln2	A	T	6: 91,233,215 (GRCm39)		probably null	Het
Fbxo16	A	G	14: 65,531,348 (GRCm39)	E84G	probably damaging	Het
Fras1	T	A	5: 96,855,257 (GRCm39)	V1922D	probably benign	Het
G6pc3	A	G	11: 102,082,896 (GRCm39)	H85R	probably damaging	Het
Galc	A	T	12: 98,212,543 (GRCm39)	N197K	probably damaging	Het
Galnt12	T	G	4: 47,108,582 (GRCm39)		probably null	Het
Gm10220	T	A	5: 26,322,863 (GRCm39)	Q183L	probably benign	Het
Gxylt2	A	G	6: 100,760,109 (GRCm39)	T215A	probably damaging	Het
Hnrnpf	T	G	6: 117,900,811 (GRCm39)	S32A	probably benign	Het
Hspa1l	T	C	17: 35,197,799 (GRCm39)	Y613H	probably benign	Het
Il1r2	T	A	1: 40,144,424 (GRCm39)	V37D	probably benign	Het
Itga11	C	A	9: 62,668,823 (GRCm39)	Y693*	probably null	Het
Itgax	T	A	7: 127,735,223 (GRCm39)	F459L	probably damaging	Het
Jph1	A	G	1: 17,067,719 (GRCm39)	V656A	possibly damaging	Het
Kcnn4	A	T	7: 24,083,500 (GRCm39)	I394F	possibly damaging	Het
Kdelr3	T	A	15: 79,410,044 (GRCm39)	Y176*	probably null	Het
Kif13a	T	C	13: 46,984,279 (GRCm39)	D162G	probably damaging	Het
Klhdc8b	G	A	9: 108,326,871 (GRCm39)	P164S	probably damaging	Het
Lmbrd1	A	T	1: 24,783,435 (GRCm39)	Q357L	probably damaging	Het
Lrrc37a	T	C	11: 103,347,375 (GRCm39)	M3107V	unknown	Het
Muc16	C	A	9: 18,567,344 (GRCm39)	G1725V	unknown	Het
Myo5c	T	C	9: 75,185,585 (GRCm39)	S983P	probably benign	Het
Naip1	G	A	13: 100,580,146 (GRCm39)	H217Y	probably damaging	Het
Nlrc3	T	C	16: 3,781,968 (GRCm39)		probably benign	Het
Nrl	A	T	14: 55,758,184 (GRCm39)	L181Q	probably damaging	Het
Olig1	T	C	16: 91,067,545 (GRCm39)	*261R	probably null	Het
Or12k5	T	C	2: 36,895,060 (GRCm39)	T189A	probably benign	Het
Or2l13b	T	C	16: 19,349,536 (GRCm39)	I45V		Het
Or8j3c	T	C	2: 86,253,697 (GRCm39)	M108V	probably benign	Het
Oscp1	T	A	4: 125,952,535 (GRCm39)	L21Q	probably damaging	Het
Oxct1	G	A	15: 4,064,763 (GRCm39)	V34I	probably benign	Het
Pdzph1	A	G	17: 59,195,033 (GRCm39)	L1074P	probably damaging	Het
Pkd1l1	T	A	11: 8,900,503 (GRCm39)	S463C		Het
Pnpla3	G	A	15: 84,063,509 (GRCm39)	E296K	probably benign	Het
Prss35	T	G	9: 86,637,244 (GRCm39)	L5V	possibly damaging	Het
Rbck1	T	C	2: 152,164,096 (GRCm39)	E336G	possibly damaging	Het
Rgl2	G	A	17: 34,153,974 (GRCm39)	R460Q	probably damaging	Het
Rmi1	T	A	13: 58,557,156 (GRCm39)	N468K	probably benign	Het
Rptor	T	A	11: 119,494,751 (GRCm39)	I39N	probably benign	Het
S1pr1	A	G	3: 115,505,628 (GRCm39)	F322S	probably damaging	Het
Scgb1b10	T	A	7: 31,800,544 (GRCm39)	Y44*	probably null	Het
Setx	A	G	2: 29,038,114 (GRCm39)	D1533G	probably benign	Het
Sf3b1	A	G	1: 55,029,508 (GRCm39)	Y1165H	probably damaging	Het
Sgcz	A	T	8: 38,420,103 (GRCm39)	Y50N	probably damaging	Het
Sh3gl2	C	A	4: 85,305,817 (GRCm39)	P227Q		Het
She	T	C	3: 89,759,795 (GRCm39)		probably null	Het
Slc9a4	T	C	1: 40,642,015 (GRCm39)	I328T	probably damaging	Het
Sort1	G	A	3: 108,262,887 (GRCm39)		probably null	Het
Srebf1	A	G	11: 60,091,595 (GRCm39)	S977P	probably benign	Het
Srsf9	T	C	5: 115,468,712 (GRCm39)	V116A	probably damaging	Het
Tex15	G	A	8: 34,066,992 (GRCm39)	V2141I	possibly damaging	Het
Tmprss13	A	T	9: 45,249,704 (GRCm39)	H347L	probably damaging	Het
Trpv4	A	G	5: 114,768,511 (GRCm39)	F519S	probably benign	Het
Trrap	A	G	5: 144,758,649 (GRCm39)	T2159A	probably benign	Het
Vmn1r36	A	T	6: 66,693,442 (GRCm39)	Y144*	probably null	Het
Vmn2r10	A	G	5: 109,146,899 (GRCm39)	I463T	possibly damaging	Het
Vps13a	T	A	19: 16,641,186 (GRCm39)	N2312I	probably damaging	Het
Wdr81	A	T	11: 75,343,919 (GRCm39)	Y449*	probably null	Het
Zfhx3	A	G	8: 109,676,867 (GRCm39)	D2639G	possibly damaging	Het
Zfp120	A	G	2: 149,959,995 (GRCm39)	V131A	probably benign	Het
Zfp574	G	T	7: 24,780,562 (GRCm39)	C528F	probably damaging	Het
Zfp947	A	T	17: 22,364,695 (GRCm39)	N326K	probably benign	Het

Other mutations in Mllt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01074:Mllt3	APN	4	87,710,118 (GRCm39)	missense	probably benign	0.00
IGL01078:Mllt3	APN	4	87,798,297 (GRCm39)	splice site	probably benign
IGL01337:Mllt3	APN	4	87,759,057 (GRCm39)	missense	probably damaging	0.99
IGL02664:Mllt3	APN	4	87,949,860 (GRCm39)	missense	probably damaging	1.00
PIT4504001:Mllt3	UTSW	4	87,692,324 (GRCm39)	missense	probably damaging	1.00
R0226:Mllt3	UTSW	4	87,758,969 (GRCm39)	missense	probably benign	0.00
R0415:Mllt3	UTSW	4	87,759,576 (GRCm39)	utr 3 prime	probably benign
R0540:Mllt3	UTSW	4	87,759,281 (GRCm39)	missense	possibly damaging	0.73
R0618:Mllt3	UTSW	4	87,759,504 (GRCm39)	utr 3 prime	probably benign
R0932:Mllt3	UTSW	4	87,707,621 (GRCm39)	missense	probably damaging	0.99
R1713:Mllt3	UTSW	4	87,701,901 (GRCm39)	missense	probably damaging	1.00
R4748:Mllt3	UTSW	4	87,759,018 (GRCm39)	missense	possibly damaging	0.60
R4928:Mllt3	UTSW	4	87,700,642 (GRCm39)	splice site	probably null
R5086:Mllt3	UTSW	4	87,707,535 (GRCm39)	missense	probably damaging	0.99
R5186:Mllt3	UTSW	4	87,759,232 (GRCm39)	missense	probably benign	0.00
R5359:Mllt3	UTSW	4	87,759,164 (GRCm39)	missense	probably benign	0.21
R5371:Mllt3	UTSW	4	87,759,093 (GRCm39)	missense	possibly damaging	0.64
R5713:Mllt3	UTSW	4	87,759,448 (GRCm39)	missense	probably benign	0.01
R5787:Mllt3	UTSW	4	87,759,057 (GRCm39)	missense	probably damaging	0.99
R6346:Mllt3	UTSW	4	87,759,445 (GRCm39)	missense	probably damaging	1.00
R6462:Mllt3	UTSW	4	87,692,338 (GRCm39)	missense	probably damaging	1.00
R6621:Mllt3	UTSW	4	87,759,034 (GRCm39)	missense	possibly damaging	0.66
R6629:Mllt3	UTSW	4	87,759,504 (GRCm39)	utr 3 prime	probably benign
R7380:Mllt3	UTSW	4	87,710,180 (GRCm39)	missense	possibly damaging	0.85
R7600:Mllt3	UTSW	4	87,759,456 (GRCm39)	missense	probably benign	0.07
R8045:Mllt3	UTSW	4	87,759,350 (GRCm39)	missense	probably damaging	1.00
R9281:Mllt3	UTSW	4	87,707,566 (GRCm39)	missense	probably benign	0.12
R9300:Mllt3	UTSW	4	87,692,284 (GRCm39)	nonsense	probably null
R9341:Mllt3	UTSW	4	87,792,168 (GRCm39)	missense	possibly damaging	0.46
R9343:Mllt3	UTSW	4	87,792,168 (GRCm39)	missense	possibly damaging	0.46
R9544:Mllt3	UTSW	4	87,759,418 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCTGGAAGGTTCTTTGAAG -3'
(R):5'- CTTGTTGGTGAAGGCCCATG -3'

Sequencing Primer
(F):5'- AGGCACTTTTATGTTCTCTGGAGTCC -3'
(R):5'- GAAATAATCTTATGGTTGGGGCCACC -3'

Posted On

2021-07-15