Mutagenetix > Incidental Mutation

Incidental Mutation 'R0738:Mllt11'

70561

Institutional Source

Beutler Lab

Gene Symbol

Mllt11

Ensembl Gene

ENSMUSG00000053192

Gene Name

myeloid/lymphoid or mixed-lineage leukemia; translocated to, 11

Synonyms

Af1q

MMRRC Submission

038919-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R0738 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95126446-95139482 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 95127597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 58 (Q58*)

Ref Sequence

ENSEMBL: ENSMUSP00000142604 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065482] [ENSMUST00000107204] [ENSMUST00000107209] [ENSMUST00000136139] [ENSMUST00000198948] [ENSMUST00000196025]

AlphaFold

P97783

Predicted Effect

probably null
Transcript: ENSMUST00000065482
AA Change: Q58*

SMART Domains

Protein: ENSMUSP00000066448
Gene: ENSMUSG00000053192
AA Change: Q58*

Domain	Start	End	E-Value	Type
Pfam:AF1Q	1	65	2.6e-11	PFAM
internal_repeat_1	68	79	4.85e-5	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000070774

Predicted Effect

probably benign
Transcript: ENSMUST00000107204

SMART Domains

Protein: ENSMUSP00000102822
Gene: ENSMUSG00000038766

Domain	Start	End	E-Value	Type
Blast:ANK	5	34	5e-11	BLAST
ANK	37	66	3.41e-3	SMART
ANK	70	99	1.18e-6	SMART
ANK	103	132	3.76e-5	SMART
ANK	136	166	1.48e3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107209

SMART Domains

Protein: ENSMUSP00000102827
Gene: ENSMUSG00000038766

Domain	Start	End	E-Value	Type
Blast:ANK	5	34	3e-10	BLAST
ANK	37	66	3.41e-3	SMART
ANK	70	99	1.18e-6	SMART
ANK	103	132	3.76e-5	SMART
ANK	136	165	1.1e2	SMART
low complexity region	280	292	N/A	INTRINSIC
coiled coil region	310	362	N/A	INTRINSIC
low complexity region	363	389	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136139

SMART Domains

Protein: ENSMUSP00000121283
Gene: ENSMUSG00000038766

Domain	Start	End	E-Value	Type
Blast:ANK	5	34	3e-10	BLAST
ANK	37	66	3.41e-3	SMART
ANK	70	99	1.18e-6	SMART
ANK	103	132	3.76e-5	SMART
ANK	136	165	1.1e2	SMART
low complexity region	280	292	N/A	INTRINSIC
coiled coil region	310	362	N/A	INTRINSIC
low complexity region	363	389	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138862

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145272

Predicted Effect

probably null
Transcript: ENSMUST00000198948
AA Change: Q58*

SMART Domains

Protein: ENSMUSP00000142604
Gene: ENSMUSG00000053192
AA Change: Q58*

Domain	Start	End	E-Value	Type
Pfam:AF1Q	1	65	2.6e-11	PFAM
internal_repeat_1	68	79	4.85e-5	PROSPERO

Predicted Effect

probably null
Transcript: ENSMUST00000196025
AA Change: Q58*

SMART Domains

Protein: ENSMUSP00000143755
Gene: ENSMUSG00000053192
AA Change: Q58*

Domain	Start	End	E-Value	Type
Pfam:AF1Q	1	65	2.6e-11	PFAM
internal_repeat_1	68	79	4.85e-5	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155555

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181819

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.6%
20x: 92.3%

Validation Efficiency

98% (46/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene variously symbolized ALL1, HRX, or MLL located on 11q23 has been demonstrated to be fused with a number of translocation partners in cases of leukemia. t(1;11)(q21;q23) translocations that fused the MLL gene to a gene on chromosomal band 1q21 in 2 infants with acute myelomonocytic leukemia have been demonstrated. The N-terminal portion of the MLL gene is critical for leukemogenesis in translocations involving band 11q23. This gene encodes 90 amino acids. It was found to be highly expressed in the thymus but not in peripheral lymphoid tissues. In contrast to its restricted distribution in normal hematopoietic tissue, this gene was expressed in all leukemic cell lines tested. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	T	5: 99,388,812 (GRCm39)	M189K	probably benign	Het
Ank1	A	T	8: 23,604,130 (GRCm39)	E964D	probably damaging	Het
Ankhd1	A	G	18: 36,778,302 (GRCm39)		probably benign	Het
Cd9	G	T	6: 125,439,103 (GRCm39)	Q169K	probably benign	Het
Cdc42bpa	T	A	1: 179,827,027 (GRCm39)		probably benign	Het
Ch25h	T	C	19: 34,451,787 (GRCm39)	N247S	possibly damaging	Het
Dctn1	T	C	6: 83,167,089 (GRCm39)		probably null	Het
Defa22	C	T	8: 21,652,391 (GRCm39)	T19I	probably benign	Het
Dscam	T	C	16: 96,620,981 (GRCm39)	N576D	possibly damaging	Het
Epha3	T	C	16: 63,415,975 (GRCm39)	M675V	probably damaging	Het
Fam241a	C	A	3: 127,664,442 (GRCm39)	A120S	possibly damaging	Het
Fkbp8	T	A	8: 70,982,320 (GRCm39)	I86N	probably damaging	Het
Herc4	C	T	10: 63,124,928 (GRCm39)	P514L	possibly damaging	Het
Ide	A	T	19: 37,255,364 (GRCm39)	L813*	probably null	Het
Igkv12-41	G	A	6: 69,835,675 (GRCm39)	Q26*	probably null	Het
Itsn2	T	C	12: 4,685,681 (GRCm39)	V483A	probably benign	Het
Kcp	A	T	6: 29,490,438 (GRCm39)	I1002N	probably benign	Het
Lrfn5	G	T	12: 61,887,378 (GRCm39)	E389*	probably null	Het
Lrp6	G	T	6: 134,519,008 (GRCm39)	A19E	probably benign	Het
Mad1l1	A	G	5: 140,286,315 (GRCm39)	L228P	probably damaging	Het
Map2	T	C	1: 66,464,348 (GRCm39)		probably benign	Het
Med13l	T	A	5: 118,889,698 (GRCm39)	Y1820N	probably damaging	Het
Mgam	A	G	6: 40,731,869 (GRCm39)	N735S	probably benign	Het
Mid2	A	G	X: 139,664,425 (GRCm39)	Y618C	probably damaging	Het
Mttp	A	G	3: 137,809,074 (GRCm39)	V678A	probably damaging	Het
Nfatc1	A	G	18: 80,741,125 (GRCm39)	S278P	probably damaging	Het
Ninj2	A	G	6: 120,175,098 (GRCm39)		probably benign	Het
Nsd3	T	A	8: 26,168,725 (GRCm39)		probably null	Het
Or5b102	A	T	19: 13,041,102 (GRCm39)	E109V	probably damaging	Het
Or8c17	T	C	9: 38,180,421 (GRCm39)	V204A	possibly damaging	Het
Pcdhb4	A	G	18: 37,441,764 (GRCm39)	N358S	probably damaging	Het
Plch1	T	C	3: 63,609,974 (GRCm39)		probably benign	Het
Popdc3	T	C	10: 45,191,354 (GRCm39)	L155P	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbm26	A	T	14: 105,414,218 (GRCm39)	I24N	unknown	Het
Rc3h2	T	A	2: 37,295,386 (GRCm39)	D210V	probably damaging	Het
Samd1	CGAGGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	8: 84,725,625 (GRCm39)		probably benign	Het
Spopl	T	C	2: 23,427,533 (GRCm39)	T200A	probably benign	Het
Tarbp1	A	G	8: 127,165,540 (GRCm39)		probably null	Het
Thnsl1	T	A	2: 21,218,173 (GRCm39)	H121Q	probably damaging	Het
Tll1	T	C	8: 64,554,984 (GRCm39)	D233G	probably damaging	Het
Vmn2r27	A	T	6: 124,200,661 (GRCm39)	V432E	possibly damaging	Het
Wdr5	T	C	2: 27,409,424 (GRCm39)	S49P	probably damaging	Het
Zfyve26	A	T	12: 79,342,308 (GRCm39)	I46N	probably damaging	Het

Other mutations in Mllt11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5708:Mllt11	UTSW	3	95,127,515 (GRCm39)	missense	probably benign	0.00
R6237:Mllt11	UTSW	3	95,127,602 (GRCm39)	missense	probably benign	0.04
R7034:Mllt11	UTSW	3	95,127,744 (GRCm39)	missense	probably damaging	1.00
R7827:Mllt11	UTSW	3	95,127,548 (GRCm39)	missense	probably damaging	1.00
R9717:Mllt11	UTSW	3	95,127,521 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGCAGATTCATCAGCACCACCAG -3'
(R):5'- AGGAGCTTGCTCTATCGTGGAGAC -3'

Sequencing Primer
(F):5'- CCACCAGCACAATAGAGGGAAG -3'
(R):5'- TGCTCTATCGTGGAGACTAACAC -3'

Posted On

2013-09-30