Mutagenetix > Incidental Mutation

Incidental Mutation 'R6030:Mllt6'

486220

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

044202-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6030 (G1)

Quality Score

219.009

Status

Not validated

Chromosome

Chromosomal Location

97663414-97685463 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97677225 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 827 (T827S)

Ref Sequence

ENSEMBL: ENSMUSP00000103212 (fasta)

Gene Model

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

AlphaFold

B1AR10

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044730
AA Change: T797S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045445
Gene: ENSMUSG00000038437
AA Change: T797S

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: T827S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103212
Gene: ENSMUSG00000038437
AA Change: T827S

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: ENSMUST00000143220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155835

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184494

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	T	C	5: 118,255,733	W59R	probably damaging	Het
Abca16	A	G	7: 120,533,798	N1317D	probably benign	Het
Abhd8	T	A	8: 71,458,150	Y338F	possibly damaging	Het
Actg2	G	T	6: 83,516,364	N297K	probably damaging	Het
Agap1	A	G	1: 89,630,434	D148G	probably damaging	Het
Alox12	T	C	11: 70,254,591	D52G	possibly damaging	Het
Ano5	T	A	7: 51,574,825	S496T	probably damaging	Het
Arl6ip4	T	C	5: 124,117,905		probably null	Het
Atp4a	G	C	7: 30,722,516	E826Q	probably damaging	Het
Bbs7	T	C	3: 36,602,911	D256G	probably damaging	Het
Bckdha	T	A	7: 25,631,441	D50V	probably damaging	Het
Cast	A	G	13: 74,695,937	S693P	possibly damaging	Het
Col6a1	T	C	10: 76,709,866	Y924C	unknown	Het
Crkl	A	G	16: 17,452,740	Y88C	probably damaging	Het
Cse1l	T	C	2: 166,919,621	F32L	probably benign	Het
Dmxl2	C	T	9: 54,393,673	V2385I	probably benign	Het
Dnah1	T	A	14: 31,268,027	I3219F	probably damaging	Het
Dnah17	C	T	11: 118,025,549	R4266H	probably benign	Het
Efcab5	A	G	11: 77,121,262	L722P	probably damaging	Het
Emilin3	C	A	2: 160,909,185	V215L	probably benign	Het
Esr1	A	T	10: 4,746,622	N157I	possibly damaging	Het
Esrrg	A	G	1: 188,198,707	M309V	probably benign	Het
Fam120b	G	A	17: 15,401,910	R50Q	probably damaging	Het
Fat2	G	T	11: 55,310,303	Y648*	probably null	Het
Gbp2b	T	A	3: 142,603,653	I175N	probably benign	Het
Gm1043	T	A	5: 37,154,608		probably benign	Het
Gm21060	A	G	19: 61,296,973	C33R	possibly damaging	Het
Gm9803	C	T	10: 43,524,256	A30V	probably benign	Het
Gpx6	C	T	13: 21,312,340	S28L	probably benign	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Ifi44	T	C	3: 151,749,558	Q10R	probably benign	Het
Impa2	T	C	18: 67,318,428	V264A	probably benign	Het
Khdc1a	A	T	1: 21,350,884	M98L	probably benign	Het
Lrrc45	T	A	11: 120,720,648	L616*	probably null	Het
Mios	A	T	6: 8,215,704	H300L	probably benign	Het
Mrc1	C	A	2: 14,316,901	D1068E	probably benign	Het
Ndst3	T	C	3: 123,552,519	Y702C	probably damaging	Het
Nek11	T	A	9: 105,204,888		probably null	Het
Nek4	T	C	14: 30,956,933	F138S	probably damaging	Het
Nfatc4	T	A	14: 55,832,440	Y688*	probably null	Het
Nlrx1	C	T	9: 44,263,760	V240M	probably damaging	Het
Npy6r	A	T	18: 44,276,082	Y190F	probably benign	Het
Olfr338	T	G	2: 36,377,544	L256R	probably damaging	Het
Olfr472	A	G	7: 107,903,413	E232G	probably benign	Het
Olfr509	A	C	7: 108,646,226	S117A	possibly damaging	Het
Olfr548-ps1	C	A	7: 102,542,610	R225S	probably benign	Het
Olfr780	A	T	10: 129,322,369	T249S	probably benign	Het
Olfr960	T	C	9: 39,623,341	F71L	probably damaging	Het
Osbpl7	A	C	11: 97,052,261	H113P	probably benign	Het
Pck1	A	G	2: 173,154,857	E188G	probably benign	Het
Pimreg	A	G	11: 72,045,750	D213G	probably benign	Het
Pkd1l2	A	G	8: 117,043,237	I1160T	probably damaging	Het
Ppargc1b	G	A	18: 61,307,934	Q622*	probably null	Het
Ppfia2	T	A	10: 106,906,477	C1044S	probably damaging	Het
Ppp4r3a	A	G	12: 101,058,400	V280A	probably damaging	Het
Ptprf	T	C	4: 118,211,048	N1764D	probably benign	Het
Pygm	C	T	19: 6,388,812	R311C	possibly damaging	Het
Rab7b	A	G	1: 131,698,561	K109R	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,579,906		probably benign	Homo
Sdccag3	T	C	2: 26,386,971	D249G	possibly damaging	Het
Setbp1	T	G	18: 78,857,711	I914L	probably benign	Het
Shprh	A	C	10: 11,151,991	Q114P	probably benign	Het
Slc5a9	T	C	4: 111,885,528	I456V	possibly damaging	Het
Slc8b1	T	C	5: 120,519,920		probably null	Het
Spin1	T	A	13: 51,139,516	Y87*	probably null	Het
Srebf2	T	C	15: 82,177,276		probably null	Het
Sufu	T	C	19: 46,475,539	Y397H	probably damaging	Het
Tgfb3	A	C	12: 86,063,850	V242G	probably benign	Het
Tgm3	A	T	2: 130,042,000	Y526F	probably damaging	Het
Tmem209	A	G	6: 30,482,968	L508P	probably damaging	Het
Tmem67	T	C	4: 12,063,799	D454G	probably benign	Het
Ttn	T	C	2: 76,816,599	E3280G	possibly damaging	Het
Tusc3	G	C	8: 39,071,406	G200R	probably damaging	Het
Umps	A	G	16: 33,962,138	V138A	probably benign	Het
Wdr66	C	T	5: 123,274,204	T532M	probably damaging	Het
Ypel1	A	G	16: 17,084,513		probably null	Het
Zdhhc19	T	A	16: 32,499,042	L63Q	probably null	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
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
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'- CTATGGACTGCTTCCTCAAGG -3'
(R):5'- GACTGAGTCTGTCCTTCACTGC -3'

Sequencing Primer
(F):5'- CTCAAGGTGAGGGGATCCAGC -3'
(R):5'- AGCACCCTGTGTTAAGAAGGTTCTC -3'

Posted On

2017-08-16