Mutagenetix > Incidental Mutation

Incidental Mutation 'R0904:Mllt6'

83260

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

039062-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0904 (G1)

Quality Score

167

Status

Validated

Chromosome

Chromosomal Location

97663414-97685463 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 97664998 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 51 (C51W)

Ref Sequence

ENSEMBL: ENSMUSP00000103212 (fasta)

Gene Model

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

AlphaFold

B1AR10

Predicted Effect

probably damaging
Transcript: ENSMUST00000044730
AA Change: C51W

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

SMART Domains

Protein: ENSMUSP00000045445
Gene: ENSMUSG00000038437
AA Change: C51W

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: C51W

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

SMART Domains

Protein: ENSMUSP00000103212
Gene: ENSMUSG00000038437
AA Change: C51W

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

Meta Mutation Damage Score

0.9572

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.2%
20x: 94.7%

Validation Efficiency

89% (34/38)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	G	8: 79,248,489		probably benign	Het
2810474O19Rik	G	A	6: 149,328,269	A938T	probably damaging	Het
9230110F15Rik	T	C	9: 35,839,070	D102G	probably damaging	Het
Abca13	T	C	11: 9,298,740	V2829A	probably benign	Het
Adk	G	T	14: 21,092,428	D26Y	probably damaging	Het
Bpifb9a	T	C	2: 154,264,225		probably benign	Het
Dap	G	A	15: 31,272,380		probably benign	Het
Eqtn	A	T	4: 94,907,655	S270T	probably benign	Het
Fam193a	A	G	5: 34,462,143	D764G	probably damaging	Het
Fbxl6	A	T	15: 76,537,083		probably null	Het
Gm13212	T	C	4: 145,622,175	Y61H	possibly damaging	Het
Gm3259	A	C	5: 95,341,327	T210P	probably damaging	Het
Gtf3c1	A	T	7: 125,668,842		probably benign	Het
H2-D1	G	C	17: 35,263,861	M122I	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Map1s	C	A	8: 70,914,188	P579Q	probably damaging	Het
Mapk10	A	G	5: 102,987,280		probably benign	Het
Mzf1	C	A	7: 13,052,771	R124L	possibly damaging	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Neurod2	G	T	11: 98,327,321	T339K	probably benign	Het
Nfya	G	A	17: 48,395,787	Q29*	probably null	Het
Nipbl	A	T	15: 8,361,718	D257E	probably benign	Het
Pex5	G	A	6: 124,399,937		probably benign	Het
Prx	T	A	7: 27,518,294	F879Y	probably damaging	Het
Scai	G	A	2: 39,075,152	T560M	possibly damaging	Het
Slfn10-ps	T	C	11: 83,035,409		noncoding transcript	Het
Spdye4b	A	G	5: 143,195,668		probably benign	Het
Ss18l1	A	G	2: 180,059,354	Y287C	probably damaging	Het
Tpbg	C	A	9: 85,844,564	F195L	unknown	Het
Trbv16	T	C	6: 41,151,847		probably benign	Het
Unc5c	A	G	3: 141,803,840	T620A	probably benign	Het
Vangl1	A	G	3: 102,183,994	S259P	probably damaging	Het
Vmn1r52	T	A	6: 90,179,464	M71K	probably damaging	Het
Vmn2r23	A	T	6: 123,742,135	I816F	probably damaging	Het

Other mutations in Mllt6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01745:Mllt6	APN	11	97676928	missense	probably damaging	1.00
IGL01808:Mllt6	APN	11	97672484	missense	possibly damaging	0.88
IGL01967:Mllt6	APN	11	97674777	missense	probably damaging	0.98
IGL02247:Mllt6	APN	11	97670332	missense	probably benign	0.01
IGL03161:Mllt6	APN	11	97667151	missense	probably benign	0.03
R0284:Mllt6	UTSW	11	97678605	missense	probably benign	0.02
R0718:Mllt6	UTSW	11	97676359	splice site	probably benign
R0783:Mllt6	UTSW	11	97665745	missense	probably damaging	0.99
R0811:Mllt6	UTSW	11	97678561	missense	probably damaging	0.97
R0812:Mllt6	UTSW	11	97678561	missense	probably damaging	0.97
R0960:Mllt6	UTSW	11	97664946	splice site	probably benign
R1445:Mllt6	UTSW	11	97672451	splice site	probably benign
R1523:Mllt6	UTSW	11	97665023	missense	probably damaging	1.00
R1781:Mllt6	UTSW	11	97672569	missense	probably benign
R1952:Mllt6	UTSW	11	97677222	missense	probably damaging	0.99
R2258:Mllt6	UTSW	11	97664976	missense	probably damaging	1.00
R2259:Mllt6	UTSW	11	97664976	missense	probably damaging	1.00
R2927:Mllt6	UTSW	11	97680776	missense	probably damaging	0.98
R4866:Mllt6	UTSW	11	97674459	missense	probably damaging	1.00
R4938:Mllt6	UTSW	11	97678407	missense	probably benign
R5039:Mllt6	UTSW	11	97669500	missense	possibly damaging	0.83
R5058:Mllt6	UTSW	11	97669500	missense	possibly damaging	0.83
R5064:Mllt6	UTSW	11	97673949	missense	probably damaging	1.00
R5076:Mllt6	UTSW	11	97669500	missense	possibly damaging	0.83
R5115:Mllt6	UTSW	11	97669500	missense	possibly damaging	0.83
R5379:Mllt6	UTSW	11	97669500	missense	possibly damaging	0.83
R5509:Mllt6	UTSW	11	97669500	missense	possibly damaging	0.83
R5510:Mllt6	UTSW	11	97669500	missense	possibly damaging	0.83
R5511:Mllt6	UTSW	11	97669500	missense	possibly damaging	0.83
R5603:Mllt6	UTSW	11	97673505	missense	probably damaging	1.00
R5816:Mllt6	UTSW	11	97672574	missense	probably damaging	0.97
R6030:Mllt6	UTSW	11	97677225	missense	probably damaging	0.99
R6030:Mllt6	UTSW	11	97677225	missense	probably damaging	0.99
R6051:Mllt6	UTSW	11	97680743	nonsense	probably null
R6180:Mllt6	UTSW	11	97678536	missense	possibly damaging	0.85
R6277:Mllt6	UTSW	11	97673948	missense	probably damaging	1.00
R6667:Mllt6	UTSW	11	97676934	missense	probably damaging	1.00
R6754:Mllt6	UTSW	11	97674447	missense	probably damaging	1.00
R6791:Mllt6	UTSW	11	97680602	missense	probably damaging	0.98
R7049:Mllt6	UTSW	11	97673811	missense	probably damaging	1.00
R7194:Mllt6	UTSW	11	97673568	missense	probably benign	0.23
R7387:Mllt6	UTSW	11	97674600	missense	probably benign	0.04
R7484:Mllt6	UTSW	11	97672616	missense	probably benign	0.18
R7685:Mllt6	UTSW	11	97676964	missense	probably damaging	0.99
R7853:Mllt6	UTSW	11	97670316	missense	probably benign
R7862:Mllt6	UTSW	11	97665805	missense	probably benign	0.03
R8004:Mllt6	UTSW	11	97676140	missense	possibly damaging	0.91
R8498:Mllt6	UTSW	11	97676862	missense	possibly damaging	0.86
R9044:Mllt6	UTSW	11	97663659	missense	probably damaging	1.00
R9297:Mllt6	UTSW	11	97672488	missense	probably damaging	0.96
R9457:Mllt6	UTSW	11	97665760	missense	probably benign	0.12
R9557:Mllt6	UTSW	11	97673484	missense	probably benign	0.04
Z1177:Mllt6	UTSW	11	97676425	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- GTCCTGTTCCATTGAGTGATCCCG -3'
(R):5'- AAGAGGCTCCTAACTGCTGAAGGC -3'

Sequencing Primer
(F):5'- CTTTAGTAGGCTGGGTCTCTTC -3'
(R):5'- GAGAACCTGCTGGTCACTACAG -3'

Posted On

2013-11-08