Mutagenetix > Incidental Mutation

Incidental Mutation 'R7827:Mllt11'

602228

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

045881-MU

Accession Numbers

Essential gene?

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

Stock #

R7827 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95126446-95139482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95127548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 74 (F74S)

Ref Sequence

ENSEMBL: ENSMUSP00000142604 (fasta)

Gene Model

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

AlphaFold

P97783

Predicted Effect

probably damaging
Transcript: ENSMUST00000065482
AA Change: F74S

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

SMART Domains

Protein: ENSMUSP00000066448
Gene: ENSMUSG00000053192
AA Change: F74S

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 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

probably damaging
Transcript: ENSMUST00000196025
AA Change: F74S

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

SMART Domains

Protein: ENSMUSP00000143755
Gene: ENSMUSG00000053192
AA Change: F74S

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 damaging
Transcript: ENSMUST00000198948
AA Change: F74S

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

SMART Domains

Protein: ENSMUSP00000142604
Gene: ENSMUSG00000053192
AA Change: F74S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,651,112 (GRCm39)	N78S	probably damaging	Het
Abca12	G	A	1: 71,453,837 (GRCm39)		probably benign	Het
Abcb1b	T	C	5: 8,887,747 (GRCm39)	S878P	probably damaging	Het
Adamts20	T	C	15: 94,223,814 (GRCm39)	R1305G	probably damaging	Het
Adcy2	A	T	13: 68,837,400 (GRCm39)	C650S	probably damaging	Het
Ahnak	A	T	19: 8,982,708 (GRCm39)	K1331*	probably null	Het
Alpk1	A	T	3: 127,473,700 (GRCm39)	S768T	probably benign	Het
Ap4b1	T	G	3: 103,722,398 (GRCm39)	L124R	probably damaging	Het
Arrdc2	A	T	8: 71,292,038 (GRCm39)	F3Y	probably damaging	Het
Atp9a	A	G	2: 168,547,114 (GRCm39)	V155A	probably benign	Het
Bptf	A	G	11: 106,938,013 (GRCm39)	S87P	probably benign	Het
Carmil1	A	T	13: 24,220,421 (GRCm39)	M697K	probably benign	Het
Ccdc42	G	A	11: 68,485,022 (GRCm39)	V32M	probably benign	Het
Cert1	A	G	13: 96,753,563 (GRCm39)	H391R	probably damaging	Het
Ces1d	A	G	8: 93,924,294 (GRCm39)		probably null	Het
Dcpp2	T	G	17: 24,119,566 (GRCm39)	Y127D	probably damaging	Het
Def8	C	A	8: 124,174,060 (GRCm39)	T7K	probably benign	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
En2	G	A	5: 28,371,594 (GRCm39)	G24S	probably benign	Het
Evi2a	T	C	11: 79,418,688 (GRCm39)		probably benign	Het
Fam117b	A	T	1: 59,952,837 (GRCm39)	H172L	possibly damaging	Het
Fam169b	A	G	7: 67,954,338 (GRCm39)	I67M	probably benign	Het
Fbxo40	T	A	16: 36,789,861 (GRCm39)	E416D	probably damaging	Het
Gja8	T	A	3: 96,827,635 (GRCm39)	N9I	possibly damaging	Het
Gsg1l2	T	A	11: 67,676,097 (GRCm39)	C154S	probably benign	Het
Hdhd3	C	A	4: 62,418,232 (GRCm39)		probably benign	Het
Hunk	C	T	16: 90,278,214 (GRCm39)	P341L	possibly damaging	Het
Ighv8-5	T	C	12: 115,031,258 (GRCm39)	T94A	possibly damaging	Het
Ints3	T	C	3: 90,331,319 (GRCm39)	N75D	probably benign	Het
Krt39	T	C	11: 99,409,901 (GRCm39)	E212G	probably damaging	Het
Ldlrad4	A	G	18: 68,387,495 (GRCm39)	H269R	probably damaging	Het
Lrrc2	T	A	9: 110,790,049 (GRCm39)	V102E	possibly damaging	Het
Ltbp2	T	A	12: 84,836,655 (GRCm39)	I1292L	probably benign	Het
Mad2l1bp	A	T	17: 46,458,993 (GRCm39)	V179E	possibly damaging	Het
Map3k1	A	G	13: 111,892,663 (GRCm39)	V864A	probably benign	Het
Mapk8ip2	T	G	15: 89,342,322 (GRCm39)	V511G	probably damaging	Het
Mknk2	A	C	10: 80,503,021 (GRCm39)	S434A	probably benign	Het
Muc16	G	T	9: 18,506,519 (GRCm39)	T6412K	possibly damaging	Het
Nek5	C	A	8: 22,573,403 (GRCm39)	A518S	possibly damaging	Het
Npy1r	T	C	8: 67,156,864 (GRCm39)	F95L	possibly damaging	Het
Nup98	G	A	7: 101,773,569 (GRCm39)	T1586I	probably benign	Het
Olig3	A	T	10: 19,232,518 (GRCm39)	M48L	probably benign	Het
Or13n4	A	G	7: 106,422,932 (GRCm39)	M267T	probably benign	Het
Or14j7	T	A	17: 38,234,568 (GRCm39)	L37*	probably null	Het
Or5b120	T	G	19: 13,480,587 (GRCm39)	N293K	probably damaging	Het
Or6aa1	T	A	7: 86,043,765 (GRCm39)	K314*	probably null	Het
Pcdhb16	A	G	18: 37,611,904 (GRCm39)	D288G	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,790,886 (GRCm39)	I687V	probably benign	Het
Piezo1	G	A	8: 123,209,659 (GRCm39)	T2348M	probably damaging	Het
Plod3	A	G	5: 137,018,835 (GRCm39)	T291A	probably benign	Het
Pmpca	G	A	2: 26,280,144 (GRCm39)	V89I	possibly damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Pou6f2	C	A	13: 18,553,092 (GRCm39)	A81S		Het
Ppl	T	A	16: 4,905,828 (GRCm39)	E1489V	probably damaging	Het
Ptpdc1	A	G	13: 48,733,264 (GRCm39)	F792S	probably damaging	Het
Pus1	A	G	5: 110,927,582 (GRCm39)	Y58H	probably damaging	Het
Rex2	C	A	4: 147,142,547 (GRCm39)	T345N	possibly damaging	Het
Rnf144a	T	C	12: 26,389,439 (GRCm39)	M1V	probably null	Het
Siglec15	A	T	18: 78,100,445 (GRCm39)	C13*	probably null	Het
Skint10	G	A	4: 112,632,003 (GRCm39)	Q6*	probably null	Het
Slc5a1	T	C	5: 33,304,057 (GRCm39)	W291R	probably damaging	Het
Snx27	A	G	3: 94,426,366 (GRCm39)	F378L	probably benign	Het
Strip2	A	T	6: 29,923,928 (GRCm39)	T81S	probably benign	Het
Tas2r143	A	G	6: 42,377,656 (GRCm39)	N162S	probably damaging	Het
Tatdn1	T	C	15: 58,776,607 (GRCm39)	D256G	probably benign	Het
Tbc1d5	A	G	17: 51,089,291 (GRCm39)	S630P	probably damaging	Het
Tlr11	A	G	14: 50,598,611 (GRCm39)	D199G	probably benign	Het
Tmed8	C	A	12: 87,246,991 (GRCm39)		probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttll3	TAA	TAAAGCAA	6: 113,376,123 (GRCm39)		probably null	Het
U2af2	T	C	7: 5,077,661 (GRCm39)		probably null	Het
Ywhag	C	T	5: 135,940,394 (GRCm39)	E67K	probably damaging	Het
Zfp105	A	G	9: 122,759,808 (GRCm39)	H493R	probably damaging	Het
Zfp426	A	T	9: 20,381,446 (GRCm39)	C514S	probably damaging	Het
Zfp536	T	A	7: 37,269,113 (GRCm39)	D101V	probably damaging	Het

Other mutations in Mllt11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0738:Mllt11	UTSW	3	95,127,597 (GRCm39)	nonsense	probably null
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
R9717:Mllt11	UTSW	3	95,127,521 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AATTGGCAGATTCATCAGCACC -3'
(R):5'- TGAGGGACCCTGTAAGTAGC -3'

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

Posted On

2019-12-03