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, D4Ertd321e, 2610012I03Rik, 3830408D16Rik, 2210011H10Rik

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

87769925-88033364 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

ACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT to ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT at 87841315 bp (GRCm38)

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: 9,298,071 (GRCm38)	M2606R	probably benign	Het
Abcg5	C	T	17: 84,682,867 (GRCm38)	E3K	probably benign	Het
Adam20	A	C	8: 40,795,564 (GRCm38)	H237P	probably damaging	Het
Alg3	T	C	16: 20,605,934 (GRCm38)	Y361C	probably damaging	Het
Ano8	A	T	8: 71,479,300 (GRCm38)	Y752N	probably benign	Het
AW551984	A	T	9: 39,589,702 (GRCm38)	L759*	probably null	Het
Bdp1	A	C	13: 100,049,667 (GRCm38)	V1759G	probably damaging	Het
Bicdl2	C	A	17: 23,666,803 (GRCm38)	Q273K	probably damaging	Het
Cc2d2a	A	T	5: 43,699,943 (GRCm38)	T491S	possibly damaging	Het
Cdkl2	A	G	5: 92,017,130 (GRCm38)	S545P	possibly damaging	Het
Ceacam5	T	A	7: 17,760,902 (GRCm38)	I945K	probably benign	Het
Celf1	A	G	2: 91,010,495 (GRCm38)	Y369C	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 104,309,702 (GRCm38)		probably null	Het
Col14a1	T	G	15: 55,382,562 (GRCm38)	D487E	unknown	Het
Crybg3	T	C	16: 59,558,156 (GRCm38)	N912D	probably benign	Het
Cstl1	A	G	2: 148,754,634 (GRCm38)	T86A	probably damaging	Het
Dixdc1	C	T	9: 50,683,796 (GRCm38)	V482M	possibly damaging	Het
Dmbt1	T	C	7: 131,116,868 (GRCm38)	Y1773H	unknown	Het
Dock4	T	C	12: 40,745,731 (GRCm38)	I849T	probably benign	Het
Fbln2	A	T	6: 91,256,233 (GRCm38)		probably null	Het
Fbxo16	A	G	14: 65,293,899 (GRCm38)	E84G	probably damaging	Het
Fras1	T	A	5: 96,707,398 (GRCm38)	V1922D	probably benign	Het
G6pc3	A	G	11: 102,192,070 (GRCm38)	H85R	probably damaging	Het
Galc	A	T	12: 98,246,284 (GRCm38)	N197K	probably damaging	Het
Galnt12	T	G	4: 47,108,582 (GRCm38)		probably null	Het
Gm10220	T	A	5: 26,117,865 (GRCm38)	Q183L	probably benign	Het
Gxylt2	A	G	6: 100,783,148 (GRCm38)	T215A	probably damaging	Het
Hnrnpf	T	G	6: 117,923,850 (GRCm38)	S32A	probably benign	Het
Hspa1l	T	C	17: 34,978,823 (GRCm38)	Y613H	probably benign	Het
Il1r2	T	A	1: 40,105,264 (GRCm38)	V37D	probably benign	Het
Itga11	C	A	9: 62,761,541 (GRCm38)	Y693*	probably null	Het
Itgax	T	A	7: 128,136,051 (GRCm38)	F459L	probably damaging	Het
Jph1	A	G	1: 16,997,495 (GRCm38)	V656A	possibly damaging	Het
Kcnn4	A	T	7: 24,384,075 (GRCm38)	I394F	possibly damaging	Het
Kdelr3	T	A	15: 79,525,843 (GRCm38)	Y176*	probably null	Het
Kif13a	T	C	13: 46,830,803 (GRCm38)	D162G	probably damaging	Het
Klhdc8b	G	A	9: 108,449,672 (GRCm38)	P164S	probably damaging	Het
Lmbrd1	A	T	1: 24,744,354 (GRCm38)	Q357L	probably damaging	Het
Lrrc37a	T	C	11: 103,456,549 (GRCm38)	M3107V	unknown	Het
Muc16	C	A	9: 18,656,048 (GRCm38)	G1725V	unknown	Het
Myo5c	T	C	9: 75,278,303 (GRCm38)	S983P	probably benign	Het
Naip1	G	A	13: 100,443,638 (GRCm38)	H217Y	probably damaging	Het
Nlrc3	T	C	16: 3,964,104 (GRCm38)		probably benign	Het
Nrl	A	T	14: 55,520,727 (GRCm38)	L181Q	probably damaging	Het
Olig1	T	C	16: 91,270,657 (GRCm38)	*261R	probably null	Het
Or12k5	T	C	2: 37,005,048 (GRCm38)	T189A	probably benign	Het
Or2l13b	T	C	16: 19,530,786 (GRCm38)	I45V		Het
Or8j3c	T	C	2: 86,423,353 (GRCm38)	M108V	probably benign	Het
Oscp1	T	A	4: 126,058,742 (GRCm38)	L21Q	probably damaging	Het
Oxct1	G	A	15: 4,035,281 (GRCm38)	V34I	probably benign	Het
Pdzph1	A	G	17: 58,888,038 (GRCm38)	L1074P	probably damaging	Het
Pkd1l1	T	A	11: 8,950,503 (GRCm38)	S463C		Het
Pnpla3	G	A	15: 84,179,308 (GRCm38)	E296K	probably benign	Het
Prss35	T	G	9: 86,755,191 (GRCm38)	L5V	possibly damaging	Het
Rbck1	T	C	2: 152,322,176 (GRCm38)	E336G	possibly damaging	Het
Rgl2	G	A	17: 33,935,000 (GRCm38)	R460Q	probably damaging	Het
Rmi1	T	A	13: 58,409,342 (GRCm38)	N468K	probably benign	Het
Rptor	T	A	11: 119,603,925 (GRCm38)	I39N	probably benign	Het
S1pr1	A	G	3: 115,711,979 (GRCm38)	F322S	probably damaging	Het
Scgb1b10	T	A	7: 32,101,119 (GRCm38)	Y44*	probably null	Het
Setx	A	G	2: 29,148,102 (GRCm38)	D1533G	probably benign	Het
Sf3b1	A	G	1: 54,990,349 (GRCm38)	Y1165H	probably damaging	Het
Sgcz	A	T	8: 37,952,949 (GRCm38)	Y50N	probably damaging	Het
Sh3gl2	C	A	4: 85,387,580 (GRCm38)	P227Q		Het
She	T	C	3: 89,852,488 (GRCm38)		probably null	Het
Slc9a4	T	C	1: 40,602,855 (GRCm38)	I328T	probably damaging	Het
Sort1	G	A	3: 108,355,571 (GRCm38)		probably null	Het
Srebf1	A	G	11: 60,200,769 (GRCm38)	S977P	probably benign	Het
Srsf9	T	C	5: 115,330,653 (GRCm38)	V116A	probably damaging	Het
Tex15	G	A	8: 33,576,964 (GRCm38)	V2141I	possibly damaging	Het
Tmprss13	A	T	9: 45,338,406 (GRCm38)	H347L	probably damaging	Het
Trpv4	A	G	5: 114,630,450 (GRCm38)	F519S	probably benign	Het
Trrap	A	G	5: 144,821,839 (GRCm38)	T2159A	probably benign	Het
Vmn1r36	A	T	6: 66,716,458 (GRCm38)	Y144*	probably null	Het
Vmn2r10	A	G	5: 108,999,033 (GRCm38)	I463T	possibly damaging	Het
Vps13a	T	A	19: 16,663,822 (GRCm38)	N2312I	probably damaging	Het
Wdr81	A	T	11: 75,453,093 (GRCm38)	Y449*	probably null	Het
Zfhx3	A	G	8: 108,950,235 (GRCm38)	D2639G	possibly damaging	Het
Zfp120	A	G	2: 150,118,075 (GRCm38)	V131A	probably benign	Het
Zfp574	G	T	7: 25,081,137 (GRCm38)	C528F	probably damaging	Het
Zfp947	A	T	17: 22,145,714 (GRCm38)	N326K	probably benign	Het

Other mutations in Mllt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01074:Mllt3	APN	4	87,791,881 (GRCm38)	missense	probably benign	0.00
IGL01078:Mllt3	APN	4	87,880,060 (GRCm38)	splice site	probably benign
IGL01337:Mllt3	APN	4	87,840,820 (GRCm38)	missense	probably damaging	0.99
IGL02664:Mllt3	APN	4	88,031,623 (GRCm38)	missense	probably damaging	1.00
PIT4504001:Mllt3	UTSW	4	87,774,087 (GRCm38)	missense	probably damaging	1.00
R0226:Mllt3	UTSW	4	87,840,732 (GRCm38)	missense	probably benign	0.00
R0415:Mllt3	UTSW	4	87,841,339 (GRCm38)	utr 3 prime	probably benign
R0540:Mllt3	UTSW	4	87,841,044 (GRCm38)	missense	possibly damaging	0.73
R0618:Mllt3	UTSW	4	87,841,267 (GRCm38)	utr 3 prime	probably benign
R0932:Mllt3	UTSW	4	87,789,384 (GRCm38)	missense	probably damaging	0.99
R1713:Mllt3	UTSW	4	87,783,664 (GRCm38)	missense	probably damaging	1.00
R4748:Mllt3	UTSW	4	87,840,781 (GRCm38)	missense	possibly damaging	0.60
R4928:Mllt3	UTSW	4	87,782,405 (GRCm38)	splice site	probably null
R5086:Mllt3	UTSW	4	87,789,298 (GRCm38)	missense	probably damaging	0.99
R5186:Mllt3	UTSW	4	87,840,995 (GRCm38)	missense	probably benign	0.00
R5359:Mllt3	UTSW	4	87,840,927 (GRCm38)	missense	probably benign	0.21
R5371:Mllt3	UTSW	4	87,840,856 (GRCm38)	missense	possibly damaging	0.64
R5713:Mllt3	UTSW	4	87,841,211 (GRCm38)	missense	probably benign	0.01
R5787:Mllt3	UTSW	4	87,840,820 (GRCm38)	missense	probably damaging	0.99
R6346:Mllt3	UTSW	4	87,841,208 (GRCm38)	missense	probably damaging	1.00
R6462:Mllt3	UTSW	4	87,774,101 (GRCm38)	missense	probably damaging	1.00
R6621:Mllt3	UTSW	4	87,840,797 (GRCm38)	missense	possibly damaging	0.66
R6629:Mllt3	UTSW	4	87,841,267 (GRCm38)	utr 3 prime	probably benign
R7380:Mllt3	UTSW	4	87,791,943 (GRCm38)	missense	possibly damaging	0.85
R7600:Mllt3	UTSW	4	87,841,219 (GRCm38)	missense	probably benign	0.07
R8045:Mllt3	UTSW	4	87,841,113 (GRCm38)	missense	probably damaging	1.00
R9281:Mllt3	UTSW	4	87,789,329 (GRCm38)	missense	probably benign	0.12
R9300:Mllt3	UTSW	4	87,774,047 (GRCm38)	nonsense	probably null
R9341:Mllt3	UTSW	4	87,873,931 (GRCm38)	missense	possibly damaging	0.46
R9343:Mllt3	UTSW	4	87,873,931 (GRCm38)	missense	possibly damaging	0.46
R9544:Mllt3	UTSW	4	87,841,181 (GRCm38)	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