Mutagenetix > Incidental Mutation

Incidental Mutation 'R7387:Mllt6'

573196

Institutional Source

Beutler Lab

Gene Symbol

Mllt6

Ensembl Gene

ENSMUSG00000038437

Gene Name

myeloid/lymphoid or mixed-lineage leukemia; translocated to, 6

Synonyms

Af17

MMRRC Submission

045469-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7387 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97554240-97576289 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 97565426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 592 (A592D)

Ref Sequence

ENSEMBL: ENSMUSP00000045445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044730] [ENSMUST00000107586]

AlphaFold

B1AR10

Predicted Effect

probably benign
Transcript: ENSMUST00000044730
AA Change: A592D

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000045445
Gene: ENSMUSG00000038437
AA Change: A592D

Domain	Start	End	E-Value	Type
PHD	7	55	5.92e-7	SMART
PHD	119	178	5e-5	SMART
low complexity region	190	224	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
low complexity region	290	330	N/A	INTRINSIC
low complexity region	358	380	N/A	INTRINSIC
low complexity region	398	412	N/A	INTRINSIC
low complexity region	487	498	N/A	INTRINSIC
low complexity region	502	516	N/A	INTRINSIC
low complexity region	520	536	N/A	INTRINSIC
low complexity region	559	573	N/A	INTRINSIC
low complexity region	579	601	N/A	INTRINSIC
low complexity region	649	666	N/A	INTRINSIC
coiled coil region	703	744	N/A	INTRINSIC
low complexity region	746	756	N/A	INTRINSIC
low complexity region	773	782	N/A	INTRINSIC
low complexity region	802	848	N/A	INTRINSIC
low complexity region	860	901	N/A	INTRINSIC
coiled coil region	915	942	N/A	INTRINSIC
low complexity region	995	1018	N/A	INTRINSIC
low complexity region	1026	1037	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107586
AA Change: A622D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103212
Gene: ENSMUSG00000038437
AA Change: A622D

Domain	Start	End	E-Value	Type
PHD	7	55	5.92e-7	SMART
PHD	119	178	5e-5	SMART
low complexity region	190	224	N/A	INTRINSIC
low complexity region	271	284	N/A	INTRINSIC
low complexity region	290	330	N/A	INTRINSIC
low complexity region	336	356	N/A	INTRINSIC
low complexity region	388	410	N/A	INTRINSIC
low complexity region	428	442	N/A	INTRINSIC
low complexity region	517	528	N/A	INTRINSIC
low complexity region	532	546	N/A	INTRINSIC
low complexity region	550	566	N/A	INTRINSIC
low complexity region	589	603	N/A	INTRINSIC
low complexity region	609	631	N/A	INTRINSIC
low complexity region	679	696	N/A	INTRINSIC
coiled coil region	733	774	N/A	INTRINSIC
low complexity region	776	786	N/A	INTRINSIC
low complexity region	803	812	N/A	INTRINSIC
low complexity region	832	878	N/A	INTRINSIC
low complexity region	890	931	N/A	INTRINSIC
coiled coil region	945	972	N/A	INTRINSIC
low complexity region	1025	1048	N/A	INTRINSIC
low complexity region	1056	1067	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit no abnormal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,362,774 (GRCm39)	Y182H	probably damaging	Het
Abca6	A	G	11: 110,093,246 (GRCm39)	V1009A	probably benign	Het
Abcg2	A	T	6: 58,666,609 (GRCm39)	I573F	possibly damaging	Het
Adck1	A	G	12: 88,427,822 (GRCm39)	T480A	probably benign	Het
Adcy5	T	C	16: 35,092,460 (GRCm39)	I607T	probably damaging	Het
Add2	A	G	6: 86,062,997 (GRCm39)	K52E	probably damaging	Het
Arid4a	T	A	12: 71,134,270 (GRCm39)	S1191T	probably damaging	Het
Atg2a	G	T	19: 6,305,198 (GRCm39)	C1207F	possibly damaging	Het
Atg2b	T	C	12: 105,589,034 (GRCm39)	D1875G	probably damaging	Het
B3gntl1	A	G	11: 121,520,741 (GRCm39)	L224P	possibly damaging	Het
BC035947	A	G	1: 78,475,098 (GRCm39)	V478A	possibly damaging	Het
Cachd1	T	C	4: 100,634,375 (GRCm39)	V17A	unknown	Het
Cad	T	C	5: 31,219,284 (GRCm39)	Y669H	probably damaging	Het
Ccdc110	A	T	8: 46,395,233 (GRCm39)	M375L	probably benign	Het
Cdc6	C	T	11: 98,799,042 (GRCm39)		probably benign	Het
Cdhr4	T	A	9: 107,874,111 (GRCm39)	Y72*	probably null	Het
Cenpe	T	G	3: 134,952,798 (GRCm39)	M1496R	probably benign	Het
Clec4a1	T	G	6: 122,899,016 (GRCm39)	C28W	possibly damaging	Het
Cma2	A	G	14: 56,210,505 (GRCm39)	N120S	probably benign	Het
Cped1	A	T	6: 22,059,933 (GRCm39)	I200L	probably benign	Het
Cpsf1	A	T	15: 76,486,766 (GRCm39)	S257T	possibly damaging	Het
Dnah6	G	A	6: 73,189,595 (GRCm39)	Q18*	probably null	Het
Dpp10	T	C	1: 123,268,869 (GRCm39)	E720G	probably benign	Het
Dus2	G	A	8: 106,772,619 (GRCm39)	R243Q	probably damaging	Het
Dync2h1	T	C	9: 7,157,932 (GRCm39)	N769S	possibly damaging	Het
Ece1	T	A	4: 137,666,095 (GRCm39)	I313N	possibly damaging	Het
Ern1	A	T	11: 106,312,778 (GRCm39)	V201E	probably damaging	Het
Exoc3l	A	G	8: 106,021,605 (GRCm39)	L141P	probably damaging	Het
Fam168b	G	A	1: 34,858,789 (GRCm39)	T131M	probably damaging	Het
Fez1	T	C	9: 36,779,108 (GRCm39)	F262L	probably damaging	Het
H2-DMa	T	C	17: 34,357,101 (GRCm39)	Y200H	probably damaging	Het
H2-Eb1	T	A	17: 34,533,207 (GRCm39)	V143D	probably damaging	Het
Ighv1-39	G	A	12: 114,878,488 (GRCm39)	P28S	probably benign	Het
Inka1	C	T	9: 107,861,626 (GRCm39)	R230H	probably damaging	Het
Iqgap1	C	T	7: 80,370,738 (GRCm39)	V1544I	probably benign	Het
Itga10	A	T	3: 96,560,094 (GRCm39)	Q536L	probably benign	Het
Itih2	C	T	2: 10,135,319 (GRCm39)	E24K	possibly damaging	Het
Itsn2	A	T	12: 4,689,781 (GRCm39)	N618I	probably damaging	Het
Kcnd2	T	A	6: 21,216,777 (GRCm39)	S160R	probably benign	Het
Kif11	T	A	19: 37,398,204 (GRCm39)	F677I	probably damaging	Het
Ldlrad2	C	T	4: 137,301,828 (GRCm39)	C18Y	probably damaging	Het
Lrp4	T	C	2: 91,306,959 (GRCm39)	V360A	probably benign	Het
Lrrtm2	T	C	18: 35,346,025 (GRCm39)	T426A	probably damaging	Het
Mcidas	T	C	13: 113,130,622 (GRCm39)	F40L	probably benign	Het
Med27	T	A	2: 29,303,419 (GRCm39)	L123Q	possibly damaging	Het
Mettl2	T	C	11: 105,023,364 (GRCm39)	V249A	probably benign	Het
Mrps5	C	T	2: 127,442,804 (GRCm39)	T291I	probably damaging	Het
Muc16	T	A	9: 18,553,016 (GRCm39)	T4426S	probably benign	Het
Myh1	A	T	11: 67,099,715 (GRCm39)	M542L	probably benign	Het
Nlrp12	G	T	7: 3,289,831 (GRCm39)	A227D	probably damaging	Het
Nlrp14	T	C	7: 106,782,314 (GRCm39)	Y504H	probably damaging	Het
Nr1i2	T	C	16: 38,086,442 (GRCm39)	S8G	probably benign	Het
Ntrk2	A	G	13: 59,133,793 (GRCm39)	K524R	probably damaging	Het
Nup210	C	T	6: 90,998,378 (GRCm39)		probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or4c100	T	A	2: 88,356,744 (GRCm39)	Y272*	probably null	Het
Or52e4	T	A	7: 104,706,297 (GRCm39)	Y281*	probably null	Het
Or5h27	A	T	16: 59,006,699 (GRCm39)	I49N	probably damaging	Het
Patl1	A	G	19: 11,911,094 (GRCm39)	I525M	probably benign	Het
Pcnx3	A	G	19: 5,723,364 (GRCm39)	L1277P	probably benign	Het
Pelp1	G	A	11: 70,287,425 (GRCm39)	T461I	probably damaging	Het
Phf20	T	C	2: 156,136,160 (GRCm39)	C660R	probably damaging	Het
Pkd1l1	T	A	11: 8,851,203 (GRCm39)	Y1193F		Het
Pknox2	G	T	9: 36,868,364 (GRCm39)		probably benign	Het
Pml	T	C	9: 58,137,177 (GRCm39)	T541A	probably benign	Het
Prss35	C	T	9: 86,637,974 (GRCm39)	T248I	probably damaging	Het
Rccd1	T	A	7: 79,970,350 (GRCm39)	N89I	probably benign	Het
Rcor3	T	C	1: 191,821,824 (GRCm39)		probably benign	Het
Rreb1	A	G	13: 38,131,040 (GRCm39)	E16G	unknown	Het
Scgb2b12	T	A	7: 32,026,060 (GRCm39)	H44L	probably benign	Het
Sec23ip	C	T	7: 128,346,727 (GRCm39)		probably benign	Het
Sgsm1	A	C	5: 113,411,566 (GRCm39)	F720C	probably damaging	Het
Slc25a51	A	T	4: 45,399,841 (GRCm39)	F116L	possibly damaging	Het
Spats2l	T	C	1: 57,941,293 (GRCm39)	V253A	probably damaging	Het
Spopl	A	T	2: 23,427,521 (GRCm39)	F204I	probably benign	Het
Sqle	G	A	15: 59,202,603 (GRCm39)	R519Q	probably benign	Het
Stil	T	G	4: 114,881,233 (GRCm39)	H592Q	probably benign	Het
Strip1	T	A	3: 107,533,046 (GRCm39)	S201C	probably damaging	Het
Tcp11l1	C	A	2: 104,530,275 (GRCm39)	A70S	possibly damaging	Het
Tmem163	T	C	1: 127,447,180 (GRCm39)		probably null	Het
Tmem184c	A	T	8: 78,324,559 (GRCm39)	Y310*	probably null	Het
Tmem30c	T	C	16: 57,090,386 (GRCm39)	N274D	probably benign	Het
Trim30c	T	A	7: 104,039,397 (GRCm39)	I133F	probably damaging	Het
Vars1	C	T	17: 35,223,768 (GRCm39)	Q228*	probably null	Het
Zdbf2	G	A	1: 63,343,198 (GRCm39)	V526I	possibly damaging	Het
Zfp819	T	G	7: 43,262,065 (GRCm39)		probably null	Het

Other mutations in Mllt6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01745:Mllt6	APN	11	97,567,754 (GRCm39)	missense	probably damaging	1.00
IGL01808:Mllt6	APN	11	97,563,310 (GRCm39)	missense	possibly damaging	0.88
IGL01967:Mllt6	APN	11	97,565,603 (GRCm39)	missense	probably damaging	0.98
IGL02247:Mllt6	APN	11	97,561,158 (GRCm39)	missense	probably benign	0.01
IGL03161:Mllt6	APN	11	97,557,977 (GRCm39)	missense	probably benign	0.03
R0284:Mllt6	UTSW	11	97,569,431 (GRCm39)	missense	probably benign	0.02
R0718:Mllt6	UTSW	11	97,567,185 (GRCm39)	splice site	probably benign
R0783:Mllt6	UTSW	11	97,556,571 (GRCm39)	missense	probably damaging	0.99
R0811:Mllt6	UTSW	11	97,569,387 (GRCm39)	missense	probably damaging	0.97
R0812:Mllt6	UTSW	11	97,569,387 (GRCm39)	missense	probably damaging	0.97
R0904:Mllt6	UTSW	11	97,555,824 (GRCm39)	missense	probably damaging	1.00
R0960:Mllt6	UTSW	11	97,555,772 (GRCm39)	splice site	probably benign
R1445:Mllt6	UTSW	11	97,563,277 (GRCm39)	splice site	probably benign
R1523:Mllt6	UTSW	11	97,555,849 (GRCm39)	missense	probably damaging	1.00
R1781:Mllt6	UTSW	11	97,563,395 (GRCm39)	missense	probably benign
R1952:Mllt6	UTSW	11	97,568,048 (GRCm39)	missense	probably damaging	0.99
R2258:Mllt6	UTSW	11	97,555,802 (GRCm39)	missense	probably damaging	1.00
R2259:Mllt6	UTSW	11	97,555,802 (GRCm39)	missense	probably damaging	1.00
R2927:Mllt6	UTSW	11	97,571,602 (GRCm39)	missense	probably damaging	0.98
R4866:Mllt6	UTSW	11	97,565,285 (GRCm39)	missense	probably damaging	1.00
R4938:Mllt6	UTSW	11	97,569,233 (GRCm39)	missense	probably benign
R5039:Mllt6	UTSW	11	97,560,326 (GRCm39)	missense	possibly damaging	0.83
R5058:Mllt6	UTSW	11	97,560,326 (GRCm39)	missense	possibly damaging	0.83
R5064:Mllt6	UTSW	11	97,564,775 (GRCm39)	missense	probably damaging	1.00
R5076:Mllt6	UTSW	11	97,560,326 (GRCm39)	missense	possibly damaging	0.83
R5115:Mllt6	UTSW	11	97,560,326 (GRCm39)	missense	possibly damaging	0.83
R5379:Mllt6	UTSW	11	97,560,326 (GRCm39)	missense	possibly damaging	0.83
R5509:Mllt6	UTSW	11	97,560,326 (GRCm39)	missense	possibly damaging	0.83
R5510:Mllt6	UTSW	11	97,560,326 (GRCm39)	missense	possibly damaging	0.83
R5511:Mllt6	UTSW	11	97,560,326 (GRCm39)	missense	possibly damaging	0.83
R5603:Mllt6	UTSW	11	97,564,331 (GRCm39)	missense	probably damaging	1.00
R5816:Mllt6	UTSW	11	97,563,400 (GRCm39)	missense	probably damaging	0.97
R6030:Mllt6	UTSW	11	97,568,051 (GRCm39)	missense	probably damaging	0.99
R6030:Mllt6	UTSW	11	97,568,051 (GRCm39)	missense	probably damaging	0.99
R6051:Mllt6	UTSW	11	97,571,569 (GRCm39)	nonsense	probably null
R6180:Mllt6	UTSW	11	97,569,362 (GRCm39)	missense	possibly damaging	0.85
R6277:Mllt6	UTSW	11	97,564,774 (GRCm39)	missense	probably damaging	1.00
R6667:Mllt6	UTSW	11	97,567,760 (GRCm39)	missense	probably damaging	1.00
R6754:Mllt6	UTSW	11	97,565,273 (GRCm39)	missense	probably damaging	1.00
R6791:Mllt6	UTSW	11	97,571,428 (GRCm39)	missense	probably damaging	0.98
R7049:Mllt6	UTSW	11	97,564,637 (GRCm39)	missense	probably damaging	1.00
R7194:Mllt6	UTSW	11	97,564,394 (GRCm39)	missense	probably benign	0.23
R7484:Mllt6	UTSW	11	97,563,442 (GRCm39)	missense	probably benign	0.18
R7685:Mllt6	UTSW	11	97,567,790 (GRCm39)	missense	probably damaging	0.99
R7853:Mllt6	UTSW	11	97,561,142 (GRCm39)	missense	probably benign
R7862:Mllt6	UTSW	11	97,556,631 (GRCm39)	missense	probably benign	0.03
R8004:Mllt6	UTSW	11	97,566,966 (GRCm39)	missense	possibly damaging	0.91
R8498:Mllt6	UTSW	11	97,567,688 (GRCm39)	missense	possibly damaging	0.86
R9044:Mllt6	UTSW	11	97,554,485 (GRCm39)	missense	probably damaging	1.00
R9297:Mllt6	UTSW	11	97,563,314 (GRCm39)	missense	probably damaging	0.96
R9457:Mllt6	UTSW	11	97,556,586 (GRCm39)	missense	probably benign	0.12
R9557:Mllt6	UTSW	11	97,564,310 (GRCm39)	missense	probably benign	0.04
Z1177:Mllt6	UTSW	11	97,567,251 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TTACCGCTGACTGGAGGATTC -3'
(R):5'- CCTGTTGGGAGGATCAAACAG -3'

Sequencing Primer
(F):5'- TCTGGGGTAGAAGGTGACC -3'
(R):5'- GATCAAACAGAGCCTCGTGC -3'

Posted On

2019-09-13