Mutagenetix > Incidental Mutation

Incidental Mutation 'R2259:Mllt6'

243664

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

040259-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2259 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97554240-97576289 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97555802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 44 (V44A)

Ref Sequence

ENSEMBL: ENSMUSP00000103212 (fasta)

Gene Model

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

AlphaFold

B1AR10

Predicted Effect

probably benign
Transcript: ENSMUST00000044730
AA Change: V44A

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000045445
Gene: ENSMUSG00000038437
AA Change: V44A

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: V44A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103212
Gene: ENSMUSG00000038437
AA Change: V44A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134158

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155835

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175263

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	G	5: 129,189,375 (GRCm39)	S91A	possibly damaging	Het
Ankrd13b	T	G	11: 77,367,168 (GRCm39)	N247T	probably damaging	Het
Atp10b	A	G	11: 43,063,572 (GRCm39)	D169G	probably damaging	Het
Atp10b	G	A	11: 43,080,440 (GRCm39)	V239M	probably damaging	Het
Cflar	C	T	1: 58,768,280 (GRCm39)	T121I	probably benign	Het
Clca3b	T	C	3: 144,552,142 (GRCm39)	N180D	possibly damaging	Het
Cnbd2	T	A	2: 156,177,192 (GRCm39)	I62N	probably damaging	Het
Col11a2	A	G	17: 34,258,651 (GRCm39)	H8R	probably benign	Het
Cyp2a4	C	T	7: 26,008,460 (GRCm39)	L201F	probably damaging	Het
D630003M21Rik	A	T	2: 158,046,631 (GRCm39)	L782Q	probably damaging	Het
Dctn1	C	A	6: 83,174,568 (GRCm39)	H1065N	possibly damaging	Het
Dgcr2	A	T	16: 17,662,841 (GRCm39)		probably null	Het
Dlg4	T	C	11: 69,922,196 (GRCm39)	I143T	probably damaging	Het
E2f7	T	G	10: 110,582,204 (GRCm39)	N4K	probably damaging	Het
Eef2kmt	C	T	16: 5,063,172 (GRCm39)	V323I	probably benign	Het
Eif2ak4	A	C	2: 118,286,264 (GRCm39)	I1017L	probably damaging	Het
Eln	C	A	5: 134,758,508 (GRCm39)	A126S	unknown	Het
Exoc7	T	C	11: 116,197,237 (GRCm39)	S35G	probably damaging	Het
Fam187a	A	G	11: 102,776,124 (GRCm39)		probably benign	Het
Fkbp6	C	T	5: 135,366,468 (GRCm39)		probably null	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Fmn2	T	A	1: 174,330,498 (GRCm39)	L296H	unknown	Het
Galnt14	C	A	17: 73,801,261 (GRCm39)	M520I	probably benign	Het
Gba2	A	G	4: 43,570,107 (GRCm39)	C396R	probably benign	Het
Gigyf1	C	A	5: 137,518,594 (GRCm39)	A215E	possibly damaging	Het
Glb1	C	T	9: 114,272,100 (GRCm39)	Q246*	probably null	Het
Gm11565	T	G	11: 99,805,844 (GRCm39)	C79G	possibly damaging	Het
Gpr160	A	G	3: 30,950,444 (GRCm39)	Y172C	probably damaging	Het
Ift52	A	G	2: 162,870,013 (GRCm39)	N159S	probably benign	Het
Insrr	A	G	3: 87,707,759 (GRCm39)	D67G	probably damaging	Het
Insyn2a	T	A	7: 134,519,396 (GRCm39)	E378V	probably damaging	Het
Irf2	A	G	8: 47,290,868 (GRCm39)	Y230C	probably benign	Het
Jmjd6	T	C	11: 116,732,140 (GRCm39)	H187R	probably damaging	Het
Kdm2b	C	T	5: 123,020,479 (GRCm39)	G90S	probably damaging	Het
Kif7	C	T	7: 79,361,337 (GRCm39)	G118D	probably damaging	Het
Klhl38	G	C	15: 58,178,374 (GRCm39)	T532S	possibly damaging	Het
Kmt2a	G	T	9: 44,792,440 (GRCm39)		probably benign	Het
Lama2	A	G	10: 26,907,123 (GRCm39)	L2346S	probably benign	Het
Marveld2	A	G	13: 100,748,978 (GRCm39)	S34P	probably benign	Het
Muc5ac	A	G	7: 141,344,745 (GRCm39)	N72S	probably benign	Het
Myo7a	T	G	7: 97,718,706 (GRCm39)	D1388A	probably damaging	Het
Ncapd3	A	G	9: 26,967,368 (GRCm39)	D568G	probably benign	Het
Ncoa1	A	C	12: 4,365,819 (GRCm39)	H82Q	probably damaging	Het
Npbwr1	C	A	1: 5,986,877 (GRCm39)	L212F	probably damaging	Het
Nptx1	T	G	11: 119,434,142 (GRCm39)	I315L	probably benign	Het
Npy2r	G	T	3: 82,448,661 (GRCm39)	P38Q	possibly damaging	Het
Ocln	A	T	13: 100,671,537 (GRCm39)	D24E	probably damaging	Het
Or14c41	T	A	7: 86,235,092 (GRCm39)	V203D	possibly damaging	Het
Or5bw2	A	T	7: 6,573,022 (GRCm39)	I11F	probably damaging	Het
Or8d1b	T	C	9: 38,887,296 (GRCm39)	V108A	probably benign	Het
Pde2a	A	T	7: 101,133,774 (GRCm39)	D85V	probably damaging	Het
Phf3	A	G	1: 30,843,424 (GRCm39)	V1845A	probably benign	Het
Plch1	T	A	3: 63,605,398 (GRCm39)	Q1493L	possibly damaging	Het
Pold1	T	C	7: 44,190,908 (GRCm39)		probably benign	Het
Polq	T	C	16: 36,882,459 (GRCm39)	V1541A	probably benign	Het
Psmd3	T	A	11: 98,581,790 (GRCm39)	M305K	probably benign	Het
Pura	T	C	18: 36,420,803 (GRCm39)	F197L	possibly damaging	Het
Rab3gap2	T	A	1: 184,954,056 (GRCm39)	W43R	probably damaging	Het
Repin1	A	G	6: 48,573,464 (GRCm39)	Q128R	probably benign	Het
Rnf208	G	A	2: 25,133,656 (GRCm39)	V117I	probably damaging	Het
Rpe65	A	G	3: 159,321,208 (GRCm39)	Y340C	probably damaging	Het
Ryr1	C	A	7: 28,719,166 (GRCm39)	V4414L	unknown	Het
Sephs2	T	C	7: 126,872,649 (GRCm39)	E148G	possibly damaging	Het
Spns2	T	A	11: 72,348,094 (GRCm39)	Q291L	probably benign	Het
Ssc5d	C	T	7: 4,946,915 (GRCm39)	P1090S	probably benign	Het
Tasp1	A	T	2: 139,793,426 (GRCm39)	V250D	probably damaging	Het
Tcaf3	A	G	6: 42,568,364 (GRCm39)	I664T	possibly damaging	Het
Tg	T	C	15: 66,555,747 (GRCm39)	V813A	probably benign	Het
Tmem132c	T	C	5: 127,581,988 (GRCm39)	L401P	probably benign	Het
Tmem138	T	C	19: 10,548,967 (GRCm39)	N101S	probably benign	Het
Tmem242	G	T	17: 5,483,745 (GRCm39)	A99E	probably damaging	Het
Tmem30a	C	T	9: 79,681,446 (GRCm39)	R277H	probably benign	Het
Tmt1a	A	T	15: 100,211,049 (GRCm39)	I174F	probably benign	Het
Tnni3	T	A	7: 4,522,405 (GRCm39)	I182F	probably benign	Het
Trim30a	T	A	7: 104,060,711 (GRCm39)	D355V	probably damaging	Het
Trim35	C	T	14: 66,546,711 (GRCm39)	R493*	probably null	Het
Trip10	G	C	17: 57,562,135 (GRCm39)	V254L	probably benign	Het
Tshz2	A	T	2: 169,728,326 (GRCm39)	Q505L	probably benign	Het
Ttyh1	T	C	7: 4,131,183 (GRCm39)	V218A	probably damaging	Het
Unc13b	A	T	4: 43,182,780 (GRCm39)	E3163V	possibly damaging	Het
Unc45b	T	A	11: 82,808,625 (GRCm39)	M237K	probably benign	Het
Usp8	A	G	2: 126,600,488 (GRCm39)	T1080A	probably benign	Het
Vmn2r65	T	A	7: 84,590,119 (GRCm39)	H599L	possibly damaging	Het
Vps13c	A	G	9: 67,861,142 (GRCm39)	N2891S	probably benign	Het
Xpo5	C	T	17: 46,551,822 (GRCm39)	Q1050*	probably null	Het
Zfp407	G	T	18: 84,227,918 (GRCm39)	T1897K	probably damaging	Het
Zzef1	C	T	11: 72,791,459 (GRCm39)	R2188*	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
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
R7387:Mllt6	UTSW	11	97,565,426 (GRCm39)	missense	probably benign	0.04
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'- ATTGAGTGATCCCGGGTCTG -3'
(R):5'- AGGCTCCTAACTGCTGAAGG -3'

Sequencing Primer
(F):5'- CCGGGTCTGGGGAGCAG -3'
(R):5'- CTCCTAACTGCTGAAGGCTGAATAAG -3'

Posted On

2014-10-16