Mutagenetix > Incidental Mutation

Incidental Mutation 'R5058:Mllt6'

391039

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

042648-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97663414-97685463 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 97669500 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 210 (S210N)

Ref Sequence

ENSEMBL: ENSMUSP00000045445 (fasta)

Gene Model

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

AlphaFold

B1AR10

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044730
AA Change: S210N

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045445
Gene: ENSMUSG00000038437
AA Change: S210N

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 benign
Transcript: ENSMUST00000107586
AA Change: S210N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000103212
Gene: ENSMUSG00000038437
AA Change: S210N

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: ENSMUST00000155835

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.2%

Validation Efficiency

100% (79/79)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	C	8: 13,242,625	Y222C	probably damaging	Het
Adprhl2	A	G	4: 126,318,445	S94P	probably damaging	Het
Atp11b	A	G	3: 35,809,361	E202G	probably benign	Het
Cacna1d	G	T	14: 30,114,244	S849*	probably null	Het
Camsap1	T	C	2: 25,939,363	D783G	probably benign	Het
Cbfa2t2	T	A	2: 154,504,745	I124N	probably damaging	Het
Ccdc13	A	T	9: 121,817,547		probably benign	Het
Cfap44	G	A	16: 44,420,204		probably null	Het
Col17a1	C	A	19: 47,685,550	E13*	probably null	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dennd6b	A	G	15: 89,187,350	L288P	possibly damaging	Het
Dhx37	A	C	5: 125,422,231	Y638D	probably benign	Het
Epb41	G	A	4: 132,007,435		probably benign	Het
Esp31	A	T	17: 38,644,609	I48L	possibly damaging	Het
Fat3	T	C	9: 15,996,858	Q2616R	probably damaging	Het
Fbxo33	A	G	12: 59,219,133	I116T	probably benign	Het
Flnb	G	T	14: 7,924,262	E1792*	probably null	Het
Fzd2	G	A	11: 102,604,807	G26R	probably damaging	Het
Gm11677	T	A	11: 111,725,438		noncoding transcript	Het
Gm7137	A	T	10: 77,788,071		probably benign	Het
Hnrnpr	A	G	4: 136,336,337	T252A	possibly damaging	Het
Hyal5	T	C	6: 24,891,485	F433L	probably damaging	Het
Kcnmb4	T	A	10: 116,463,928		probably benign	Het
Meltf	A	G	16: 31,887,603		probably null	Het
Muc6	T	C	7: 141,644,224	D1213G	probably benign	Het
Ncam1	A	C	9: 49,798,695	F12C	probably benign	Het
Nfxl1	A	T	5: 72,556,239	D120E	probably benign	Het
Nrg1	T	C	8: 31,824,559	Q142R	probably damaging	Het
Olfr132	G	A	17: 38,130,541	S217F	probably damaging	Het
Olfr180	T	C	16: 58,916,072	T190A	probably benign	Het
Olfr250	C	A	9: 38,367,924	T116K	probably damaging	Het
Olfr347	T	G	2: 36,734,999	L226R	possibly damaging	Het
Olfr466	C	A	13: 65,152,929	A235D	possibly damaging	Het
Olfr684	T	C	7: 105,157,148	N178S	probably damaging	Het
Olfr948	C	A	9: 39,318,664	V317L	probably benign	Het
Olfr95	A	G	17: 37,211,667	L62P	probably damaging	Het
Padi2	G	T	4: 140,932,121	V246L	probably benign	Het
Pgghg	C	T	7: 140,942,542	T63I	possibly damaging	Het
Pitpnm1	A	G	19: 4,112,758	N1117S	probably benign	Het
Plch1	G	T	3: 63,722,781	T534K	probably damaging	Het
Poc1a	G	T	9: 106,349,813		probably benign	Het
Polr3c	T	C	3: 96,723,517	I196V	probably benign	Het
Prph	A	T	15: 99,055,232		probably benign	Het
Ptprg	C	A	14: 12,037,387	T189K	possibly damaging	Het
R3hcc1	A	T	14: 69,704,014	I183N	probably damaging	Het
Rundc1	T	C	11: 101,425,537	L145P	probably benign	Het
Slc26a3	A	G	12: 31,470,965	K723E	possibly damaging	Het
Slc38a3	T	C	9: 107,659,191	E2G	possibly damaging	Het
Slc9a5	G	T	8: 105,355,858	V252L	probably benign	Het
Smim26	C	T	2: 144,595,123	T64M	probably benign	Het
Socs4	C	T	14: 47,290,132	R175*	probably null	Het
Srebf2	T	C	15: 82,182,050	S600P	probably damaging	Het
Tas2r107	A	T	6: 131,659,742	S115T	probably damaging	Het
Tenm2	T	C	11: 36,207,080	D447G	possibly damaging	Het
Thbs2	T	A	17: 14,676,329	D766V	probably damaging	Het
Tinagl1	A	G	4: 130,167,457	V300A	probably benign	Het
Tle6	T	A	10: 81,594,238	N332I	possibly damaging	Het
Tle6	C	A	10: 81,595,957	W151L	probably damaging	Het
Tnfrsf13c	C	T	15: 82,224,207	V36M	probably damaging	Het
Tns2	T	C	15: 102,107,860	I211T	possibly damaging	Het
Trp63	A	G	16: 25,882,594	N379D	probably damaging	Het
Trpc2	T	C	7: 102,089,109	W433R	probably damaging	Het
Tyw1	T	A	5: 130,277,086	L350Q	probably benign	Het
Usf3	T	C	16: 44,212,707	L76P	probably damaging	Het
Vmn2r79	T	C	7: 87,002,215	L274P	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
R0904:Mllt6	UTSW	11	97664998	missense	probably damaging	1.00
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
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'- AGCTTTAGGATAGCTAGGCTGAG -3'
(R):5'- TCTCTGGAAAGAAGCCCATGAG -3'

Sequencing Primer
(F):5'- CGGAGTGTCATGGCAGAC -3'
(R):5'- CATGAGAGAGCGGGTCTTCAC -3'

Posted On

2016-06-06