Mutagenetix > Incidental Mutation

Incidental Mutation 'R5510:Mllt6'

431171

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

043071-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97554240-97576289 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 97560326 bp (GRCm39)

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: 98.5%
3x: 97.3%
10x: 95.1%
20x: 90.1%

Validation Efficiency

99% (91/92)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	G	3: 151,203,467 (GRCm39)	I59R	possibly damaging	Het
Adgrv1	T	A	13: 81,593,363 (GRCm39)	D4208V	probably damaging	Het
Aimp2	A	T	5: 143,843,347 (GRCm39)		probably benign	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Ankib1	A	G	5: 3,779,693 (GRCm39)	V392A	probably benign	Het
Ap2b1	A	G	11: 83,227,563 (GRCm39)		probably null	Het
Arsg	A	G	11: 109,418,700 (GRCm39)	E232G	probably benign	Het
Axdnd1	A	G	1: 156,162,920 (GRCm39)	F144S	probably benign	Het
Bud13	T	A	9: 46,203,498 (GRCm39)	M111K	probably damaging	Het
Cav2	T	C	6: 17,287,012 (GRCm39)	F152S	possibly damaging	Het
Ccdc180	A	G	4: 45,928,046 (GRCm39)	T1194A	probably damaging	Het
Ccdc192	G	A	18: 57,671,156 (GRCm39)		probably null	Het
Ccdc88c	T	C	12: 100,911,290 (GRCm39)	K848R	probably damaging	Het
Ceacam15	A	G	7: 16,406,024 (GRCm39)	W176R	probably damaging	Het
Cenpf	A	T	1: 189,415,100 (GRCm39)	D136E	probably benign	Het
Dclk2	T	C	3: 86,813,344 (GRCm39)	I201V	possibly damaging	Het
Defa24	T	A	8: 22,224,612 (GRCm39)	D20E	probably damaging	Het
Dgcr8	T	C	16: 18,095,039 (GRCm39)	N566D	probably damaging	Het
Dido1	C	A	2: 180,326,966 (GRCm39)	V386L	probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dtx3	G	A	10: 127,028,807 (GRCm39)	P141S	probably benign	Het
Fmn1	T	C	2: 113,426,714 (GRCm39)	Y1144H	probably damaging	Het
Gabbr2	A	G	4: 46,734,113 (GRCm39)	L535P	probably damaging	Het
Gimap3	T	A	6: 48,742,183 (GRCm39)	E249V	possibly damaging	Het
Git2	A	T	5: 114,881,835 (GRCm39)		probably null	Het
Gm4922	T	C	10: 18,659,745 (GRCm39)	T326A	probably benign	Het
Gsdmc2	T	G	15: 63,700,045 (GRCm39)	E242D	probably benign	Het
Hdgfl2	G	A	17: 56,389,118 (GRCm39)	G31S	possibly damaging	Het
Herc2	A	T	7: 55,856,519 (GRCm39)	I3956F	probably damaging	Het
Hsf2bp	G	A	17: 32,165,721 (GRCm39)	R134C	unknown	Het
Igf1r	G	C	7: 67,843,107 (GRCm39)	R739S	probably benign	Het
Igkv4-51	T	C	6: 69,658,443 (GRCm39)	E102G	probably damaging	Het
Kif1a	T	G	1: 92,969,414 (GRCm39)	I1156L	possibly damaging	Het
Kti12	T	C	4: 108,705,821 (GRCm39)	L245S	probably damaging	Het
Med17	A	G	9: 15,181,700 (GRCm39)	S17P	probably benign	Het
Mrps18b	A	G	17: 36,225,215 (GRCm39)		probably benign	Het
Ms4a8a	A	G	19: 11,056,828 (GRCm39)	S85P	probably benign	Het
Msln	T	C	17: 25,968,847 (GRCm39)	Q487R	probably benign	Het
Myh13	A	G	11: 67,228,549 (GRCm39)	N363S	probably benign	Het
Myo6	T	C	9: 80,152,942 (GRCm39)	F192L	probably damaging	Het
Nfkbiz	T	C	16: 55,634,383 (GRCm39)	D688G	probably damaging	Het
Nsun4	C	T	4: 115,908,974 (GRCm39)	V529I	possibly damaging	Het
Or12d15	A	T	17: 37,694,192 (GRCm39)	M245L	probably benign	Het
Or1j16	G	A	2: 36,530,975 (GRCm39)	R308K	probably benign	Het
Or5p70	G	A	7: 107,994,332 (GRCm39)	A2T	probably benign	Het
Phf11a	C	A	14: 59,516,834 (GRCm39)	C208F	probably damaging	Het
Plekhh2	G	A	17: 84,874,275 (GRCm39)	C520Y	probably benign	Het
Plxna4	C	A	6: 32,155,293 (GRCm39)	M1550I	probably damaging	Het
Pnpla6	A	T	8: 3,571,397 (GRCm39)	Y140F	probably damaging	Het
Ppp1r12a	T	A	10: 108,085,488 (GRCm39)	S478T	possibly damaging	Het
Prkcz	C	A	4: 155,357,393 (GRCm39)		probably null	Het
Prss55	T	A	14: 64,314,574 (GRCm39)	M199L	probably damaging	Het
Qrich1	G	A	9: 108,433,659 (GRCm39)	V651I	possibly damaging	Het
Ralyl	T	C	3: 13,842,005 (GRCm39)	V47A	probably damaging	Het
Raph1	A	T	1: 60,562,105 (GRCm39)		probably benign	Het
Rgs12	T	C	5: 35,123,383 (GRCm39)	Y389H	probably damaging	Het
Sec24b	C	A	3: 129,834,544 (GRCm39)	G82V	probably damaging	Het
Sema4a	A	G	3: 88,357,293 (GRCm39)		probably null	Het
Slc25a11	A	T	11: 70,536,361 (GRCm39)	W149R	probably damaging	Het
Slc2a7	T	G	4: 150,244,551 (GRCm39)	S340A	probably benign	Het
Slc32a1	T	A	2: 158,456,716 (GRCm39)	M457K	probably damaging	Het
Spata31d1e	T	C	13: 59,890,234 (GRCm39)		probably null	Het
Spint4	C	T	2: 164,542,812 (GRCm39)	T135M	probably damaging	Het
Sult2a2	A	C	7: 13,472,228 (GRCm39)	N142H	probably damaging	Het
Tbc1d1	G	A	5: 64,490,738 (GRCm39)	G863D	probably damaging	Het
Tmem156	G	A	5: 65,232,917 (GRCm39)	T151M	probably benign	Het
Trip12	T	C	1: 84,746,401 (GRCm39)	Q459R	probably damaging	Het
Vmn2r116	G	A	17: 23,605,095 (GRCm39)	C136Y	probably damaging	Het
Vmn2r51	C	T	7: 9,836,545 (GRCm39)	V79M	possibly damaging	Het
Vmn2r67	A	T	7: 84,801,023 (GRCm39)	D304E	probably benign	Het
Wdr93	T	A	7: 79,399,779 (GRCm39)	F123I	probably damaging	Het
Zfp672	A	T	11: 58,207,456 (GRCm39)	C288*	probably null	Het
Zp1	T	C	19: 10,896,769 (GRCm39)	Y90C	probably damaging	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
R2259: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
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'- GCTTTAGGATAGCTAGGCTGAGC -3'
(R):5'- TCTGGAAAGAAGCCCATGAG -3'

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

Posted On

2016-10-05