Mutagenetix > Incidental Mutation

Incidental Mutation 'R5076:Mllt6'

395780

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

042665-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5076 (G1)

Quality Score

164

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: 92.0%

Validation Efficiency

97% (66/68)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 90,056,252	I72V	probably benign	Het
Aadacl3	G	A	4: 144,456,070	P276L	possibly damaging	Het
Acp6	T	A	3: 97,167,989	S180T	probably benign	Het
Adgrd1	A	T	5: 129,143,989	R449*	probably null	Het
Ak1	T	C	2: 32,633,448	V176A	probably damaging	Het
Capzb	A	T	4: 139,287,814	D226V	possibly damaging	Het
Cd34	A	T	1: 194,948,030		probably benign	Het
Cdh15	C	A	8: 122,864,348	D445E	possibly damaging	Het
Chil4	A	G	3: 106,202,597	F367L	probably damaging	Het
Clstn2	T	C	9: 97,483,079	Y458C	probably damaging	Het
Ctsw	T	C	19: 5,468,458	Y9C	probably benign	Het
Dhrs7	T	C	12: 72,659,481	D50G	probably benign	Het
Dnah14	A	G	1: 181,757,234	K3177E	probably benign	Het
Ehd1	T	C	19: 6,277,221	F83L	probably benign	Het
Eif5a2	G	A	3: 28,782,737	V59I	possibly damaging	Het
Emilin3	T	A	2: 160,909,318		probably null	Het
Entpd8	A	G	2: 25,085,054	S426G	possibly damaging	Het
Epb41l4b	C	T	4: 57,040,984	G493D	probably damaging	Het
Fam208b	C	T	13: 3,576,357	V1198I	probably benign	Het
Gm11596	C	T	11: 99,792,872	G141R	unknown	Het
Gm1840	T	G	8: 5,640,130		noncoding transcript	Het
H2-Q4	T	C	17: 35,380,441	Y167H	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Itpr1	A	G	6: 108,405,529		probably null	Het
Kif2c	A	T	4: 117,174,869		probably benign	Het
Klrb1-ps1	C	T	6: 129,119,788		noncoding transcript	Het
Krtap9-5	A	T	11: 99,949,468	T332S	unknown	Het
Lrrc39	A	T	3: 116,579,540	E283V	probably benign	Het
Mdga1	A	G	17: 29,850,554	S447P	possibly damaging	Het
Mindy1	G	A	3: 95,295,399	V425M	probably benign	Het
Mrps5	T	A	2: 127,600,852	Y280*	probably null	Het
Muc3a	T	A	5: 137,210,540	T159S	probably damaging	Het
Olfr1252	T	A	2: 89,721,401	T237S	probably damaging	Het
Olfr1310	A	T	2: 112,008,592	M198K	probably damaging	Het
Olfr286	T	A	15: 98,226,761	I295F	probably damaging	Het
Pcdhga4	G	A	18: 37,685,595	V66I	probably benign	Het
Pdhx	T	C	2: 103,041,077	T203A	probably damaging	Het
Pdss1	A	G	2: 22,899,917		probably null	Het
Pdxk	G	T	10: 78,450,307	Q103K	probably benign	Het
Peg3	A	G	7: 6,708,420	C1268R	probably damaging	Het
Pitpnc1	A	T	11: 107,296,267	S77T	probably damaging	Het
Pnisr	T	A	4: 21,874,990		probably benign	Het
Poc1b	C	T	10: 99,107,841	T22I	probably damaging	Het
Ppfia1	G	A	7: 144,506,264	R604W	probably damaging	Het
Ppp1r3a	A	G	6: 14,754,681	F189S	probably damaging	Het
Rbks	T	A	5: 31,650,451	Y99*	probably null	Het
Rsg1	A	G	4: 141,217,385	I82M	probably benign	Het
Sh3rf2	G	T	18: 42,053,924	C36F	probably damaging	Het
Spock3	T	A	8: 63,345,855	N303K	probably damaging	Het
Tcaf2	T	C	6: 42,629,467	T518A	probably benign	Het
Tmem163	A	T	1: 127,500,276	V191D	probably damaging	Het
Trappc6b	A	G	12: 59,050,308	V76A	probably damaging	Het
Ube2nl	A	G	7: 61,549,532		noncoding transcript	Het
Unc5d	C	T	8: 28,694,676	V599M	possibly damaging	Het
Vmn1r184	A	T	7: 26,266,921	M31L	probably benign	Het
Vrtn	C	A	12: 84,649,474	Q333K	probably damaging	Het
Zfp788	T	A	7: 41,648,584	F163I	possibly damaging	Het
Zfyve1	C	T	12: 83,555,647	R458H	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
R5058:Mllt6	UTSW	11	97669500	missense	possibly damaging	0.83
R5064:Mllt6	UTSW	11	97673949	missense	probably damaging	1.00
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'- GCTTTAGGATAGCTAGGCTGAG -3'
(R):5'- CTCTGGAAAGAAGCCCATGAG -3'

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

Posted On

2016-06-21