Mutagenetix > Incidental Mutation

Incidental Mutation 'R6277:Mllt6'

507733

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

044447-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6277 (G1)

Quality Score

100.008

Status

Validated

Chromosome

Chromosomal Location

97554240-97576289 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 97564774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 527 (A527T)

Ref Sequence

ENSEMBL: ENSMUSP00000103212 (fasta)

Gene Model

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

AlphaFold

B1AR10

Predicted Effect

probably benign
Transcript: ENSMUST00000044730
AA Change: A497T

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045445
Gene: ENSMUSG00000038437
AA Change: A497T

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: A527T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103212
Gene: ENSMUSG00000038437
AA Change: A527T

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

Meta Mutation Damage Score

0.0640

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.2%

Validation Efficiency

96% (70/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,385,651 (GRCm39)	Y105H	possibly damaging	Het
4921539E11Rik	A	T	4: 103,088,668 (GRCm39)	Y179*	probably null	Het
Abca7	G	C	10: 79,841,992 (GRCm39)	V1042L	probably benign	Het
Adck5	C	A	15: 76,477,463 (GRCm39)	T99K	possibly damaging	Het
Adcy5	A	G	16: 35,109,896 (GRCm39)	T823A	probably benign	Het
Adra1d	G	T	2: 131,403,083 (GRCm39)	R336S	probably damaging	Het
Arhgap39	A	T	15: 76,619,337 (GRCm39)	M749K	probably damaging	Het
Arid4a	A	G	12: 71,086,665 (GRCm39)	R168G	possibly damaging	Het
Atxn10	A	G	15: 85,275,893 (GRCm39)	T317A	probably benign	Het
Bicc1	T	C	10: 70,863,731 (GRCm39)	K22E	possibly damaging	Het
Cacna1b	T	G	2: 24,620,808 (GRCm39)	T281P	probably damaging	Het
Ccdc174	A	T	6: 91,857,272 (GRCm39)	Q26L	probably damaging	Het
Celf3	T	C	3: 94,392,672 (GRCm39)	C124R	probably damaging	Het
Cfap44	A	G	16: 44,257,669 (GRCm39)	E1068G	probably benign	Het
Crybg1	T	A	10: 43,873,255 (GRCm39)	E1284D	probably benign	Het
Dcbld2	T	A	16: 58,272,119 (GRCm39)	Y392N	probably damaging	Het
Dcbld2	C	T	16: 58,285,866 (GRCm39)	P675L	probably damaging	Het
Dnah12	A	T	14: 26,492,439 (GRCm39)	H1193L	probably damaging	Het
Efcab3	G	C	11: 104,901,148 (GRCm39)	E4422D	possibly damaging	Het
Ern2	A	G	7: 121,785,330 (GRCm39)	F16L	probably benign	Het
Fam163b	G	T	2: 27,002,763 (GRCm39)	T78N	probably benign	Het
Fbxw21	A	T	9: 108,974,623 (GRCm39)	I299K	possibly damaging	Het
Foxg1	A	G	12: 49,432,299 (GRCm39)	N344S	probably benign	Het
Git2	A	G	5: 114,871,308 (GRCm39)	I202T	probably damaging	Het
Gm11595	G	T	11: 99,663,510 (GRCm39)	P57T	unknown	Het
Gm12258	G	A	11: 58,745,113 (GRCm39)	V15M	probably damaging	Het
Gm15056	C	T	8: 21,390,914 (GRCm39)	G40S	probably damaging	Het
Gnal	C	A	18: 67,346,143 (GRCm39)	H274Q	probably damaging	Het
Hormad2	A	T	11: 4,371,583 (GRCm39)		probably null	Het
Ighv7-2	A	G	12: 113,876,087 (GRCm39)	I6T	probably benign	Het
Irf9	A	G	14: 55,845,109 (GRCm39)	D323G	probably benign	Het
Klhl23	G	T	2: 69,664,096 (GRCm39)	D482Y	probably damaging	Het
Lama4	A	G	10: 38,982,006 (GRCm39)	N1745S	probably damaging	Het
Lct	T	A	1: 128,231,974 (GRCm39)	Y625F	probably benign	Het
Lrrc26	T	C	2: 25,180,116 (GRCm39)	V39A	probably benign	Het
Mrgprb4	T	A	7: 47,848,649 (GRCm39)	D93V	probably benign	Het
Nlrp5	A	G	7: 23,120,880 (GRCm39)	D698G	probably damaging	Het
Or13p10	T	A	4: 118,523,520 (GRCm39)	S269T	probably benign	Het
Pacsin1	T	A	17: 27,924,969 (GRCm39)		probably null	Het
Padi3	A	T	4: 140,518,472 (GRCm39)		probably null	Het
Pcdha8	T	C	18: 37,127,411 (GRCm39)	I631T	probably damaging	Het
Pkn3	G	A	2: 29,972,957 (GRCm39)	G315D	possibly damaging	Het
Ppfibp1	T	A	6: 146,907,422 (GRCm39)	D228E	probably benign	Het
Prag1	G	T	8: 36,613,745 (GRCm39)	R1099L	probably damaging	Het
Pramel31	A	G	4: 144,090,223 (GRCm39)	E421G	probably damaging	Het
Prr36	A	G	8: 4,264,746 (GRCm39)		probably benign	Het
Prrc2c	A	G	1: 162,541,883 (GRCm39)	S369P	probably benign	Het
Ptprn2	A	G	12: 116,839,800 (GRCm39)	D441G	probably benign	Het
Slc9c1	G	A	16: 45,427,204 (GRCm39)		probably benign	Het
Slit1	G	A	19: 41,588,948 (GRCm39)	T1513I	possibly damaging	Het
Smcr8	C	T	11: 60,669,635 (GRCm39)	T261M	probably benign	Het
Spata17	G	A	1: 186,926,151 (GRCm39)	R60*	probably null	Het
Speer4f1	A	G	5: 17,681,241 (GRCm39)	R40G	probably damaging	Het
Spns3	A	G	11: 72,420,466 (GRCm39)	V340A	possibly damaging	Het
Srgap3	T	C	6: 112,716,344 (GRCm39)	I595V	probably benign	Het
Srms	G	A	2: 180,848,038 (GRCm39)	A489V	possibly damaging	Het
St3gal4	T	C	9: 34,964,558 (GRCm39)	N169S	probably damaging	Het
Taar5	T	A	10: 23,847,169 (GRCm39)	V189E	probably damaging	Het
Tbc1d32	G	A	10: 56,071,525 (GRCm39)	P333L	probably benign	Het
Tet3	G	T	6: 83,345,066 (GRCm39)	Y1790*	probably null	Het
Ticrr	T	A	7: 79,344,444 (GRCm39)	H1436Q	probably benign	Het
Top6bl	G	T	19: 4,677,250 (GRCm39)	S466*	probably null	Het
Ubl7	C	T	9: 57,830,555 (GRCm39)	L334F	possibly damaging	Het
Unc13a	A	G	8: 72,119,283 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,606,451 (GRCm39)	D1303G	probably damaging	Het
Vmn2r114	A	G	17: 23,509,954 (GRCm39)	L842P	possibly damaging	Het
Vps35	G	T	8: 85,987,857 (GRCm39)	Q765K	possibly damaging	Het
Zfp87	G	T	13: 74,520,643 (GRCm39)	S145*	probably null	Het
Zgrf1	C	T	3: 127,392,461 (GRCm39)	A1327V	possibly damaging	Het
Zkscan6	T	A	11: 65,718,983 (GRCm39)	S334R	probably benign	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
R5510: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
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'- TATAAGTCTCCCCATATTACCGGG -3'
(R):5'- ACACGACTGGCTGTACATGG -3'

Sequencing Primer
(F):5'- CACTGAGTGCCACCCTTG -3'
(R):5'- CATGGAGCCATTCTTTAGCGACAG -3'

Posted On

2018-03-15