Mutagenetix > Incidental Mutation

Incidental Mutation 'R7956:Mllt10'

649797

Institutional Source

Beutler Lab

Gene Symbol

Mllt10

Ensembl Gene

ENSMUSG00000026743

Gene Name

myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10

Synonyms

B130021D15Rik, D630001B22Rik, Af10

MMRRC Submission

046000-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.704) question?

Stock #

R7956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18060048-18217199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18175068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 542 (I542N)

Ref Sequence

ENSEMBL: ENSMUSP00000028076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028076] [ENSMUST00000114669] [ENSMUST00000114671] [ENSMUST00000114680]

AlphaFold

O54826

Predicted Effect

probably benign
Transcript: ENSMUST00000028076
AA Change: I542N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000028076
Gene: ENSMUSG00000026743
AA Change: I542N

Domain	Start	End	E-Value	Type
PHD	24	72	8.51e-8	SMART
PHD	136	195	2.92e-6	SMART
low complexity region	217	248	N/A	INTRINSIC
low complexity region	258	274	N/A	INTRINSIC
low complexity region	308	326	N/A	INTRINSIC
low complexity region	352	372	N/A	INTRINSIC
low complexity region	490	515	N/A	INTRINSIC
low complexity region	581	594	N/A	INTRINSIC
low complexity region	609	627	N/A	INTRINSIC
low complexity region	674	692	N/A	INTRINSIC
coiled coil region	741	782	N/A	INTRINSIC
low complexity region	836	879	N/A	INTRINSIC
low complexity region	941	952	N/A	INTRINSIC
low complexity region	966	986	N/A	INTRINSIC
low complexity region	997	1018	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114669

SMART Domains

Protein: ENSMUSP00000110317
Gene: ENSMUSG00000026743

Domain	Start	End	E-Value	Type
low complexity region	38	51	N/A	INTRINSIC
low complexity region	66	84	N/A	INTRINSIC
low complexity region	131	149	N/A	INTRINSIC
coiled coil region	198	239	N/A	INTRINSIC
low complexity region	293	336	N/A	INTRINSIC
low complexity region	398	409	N/A	INTRINSIC
low complexity region	423	443	N/A	INTRINSIC
low complexity region	454	475	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114671
AA Change: I464N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110319
Gene: ENSMUSG00000026743
AA Change: I464N

Domain	Start	End	E-Value	Type
PHD	58	117	2.92e-6	SMART
low complexity region	139	170	N/A	INTRINSIC
low complexity region	180	196	N/A	INTRINSIC
low complexity region	230	248	N/A	INTRINSIC
low complexity region	274	294	N/A	INTRINSIC
low complexity region	412	437	N/A	INTRINSIC
low complexity region	503	516	N/A	INTRINSIC
low complexity region	531	549	N/A	INTRINSIC
low complexity region	596	614	N/A	INTRINSIC
coiled coil region	663	704	N/A	INTRINSIC
low complexity region	758	801	N/A	INTRINSIC
low complexity region	863	874	N/A	INTRINSIC
low complexity region	888	908	N/A	INTRINSIC
low complexity region	919	940	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114680
AA Change: I542N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000110328
Gene: ENSMUSG00000026743
AA Change: I542N

Domain	Start	End	E-Value	Type
PHD	24	72	8.51e-8	SMART
PHD	136	195	2.92e-6	SMART
low complexity region	217	248	N/A	INTRINSIC
low complexity region	258	274	N/A	INTRINSIC
low complexity region	308	326	N/A	INTRINSIC
low complexity region	352	372	N/A	INTRINSIC
low complexity region	490	515	N/A	INTRINSIC
low complexity region	581	594	N/A	INTRINSIC
low complexity region	609	627	N/A	INTRINSIC
low complexity region	674	692	N/A	INTRINSIC
coiled coil region	741	782	N/A	INTRINSIC
low complexity region	836	879	N/A	INTRINSIC
low complexity region	941	952	N/A	INTRINSIC
low complexity region	966	986	N/A	INTRINSIC
low complexity region	997	1018	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (78/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor and has been identified as a partner gene involved in several chromosomal rearrangements resulting in various leukemias. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	T	C	15: 84,834,963 (GRCm39)	S332G	possibly damaging	Het
Acaca	A	T	11: 84,211,406 (GRCm39)	N1573Y	probably damaging	Het
Arhgef33	A	G	17: 80,662,477 (GRCm39)	K220R	possibly damaging	Het
Arsj	A	T	3: 126,232,151 (GRCm39)	D299V	probably damaging	Het
Asic3	A	C	5: 24,621,975 (GRCm39)	I412L	possibly damaging	Het
AU018091	A	T	7: 3,211,095 (GRCm39)	L278Q	probably benign	Het
Baat	A	T	4: 49,490,117 (GRCm39)	F322L	probably damaging	Het
Bap1	A	G	14: 30,977,525 (GRCm39)	Q280R	probably benign	Het
Bet1	T	C	6: 4,079,965 (GRCm39)	E66G	probably benign	Het
Brpf1	T	C	6: 113,297,493 (GRCm39)	S1000P	probably benign	Het
Ccdc78	A	T	17: 26,006,091 (GRCm39)	E86D	possibly damaging	Het
Ccdc88a	T	G	11: 29,413,892 (GRCm39)	L810R	probably damaging	Het
Cd209f	T	C	8: 4,154,859 (GRCm39)	T80A	probably benign	Het
Chrna7	T	G	7: 62,753,541 (GRCm39)	K326T	possibly damaging	Het
Cldn15	T	C	5: 137,003,504 (GRCm39)	S169P	probably damaging	Het
Cmklr2	T	C	1: 63,222,665 (GRCm39)	N190S	probably damaging	Het
Corin	A	G	5: 72,579,530 (GRCm39)	S281P	probably damaging	Het
Coro1a	A	G	7: 126,300,727 (GRCm39)	V200A	probably benign	Het
Crebrf	C	G	17: 26,961,631 (GRCm39)	P243A	probably benign	Het
Cxxc1	T	G	18: 74,352,054 (GRCm39)		probably null	Het
Dera	C	T	6: 137,813,826 (GRCm39)	T282M	probably benign	Het
Dnah12	A	T	14: 26,430,427 (GRCm39)	D345V	probably damaging	Het
Dop1b	T	C	16: 93,567,916 (GRCm39)		probably null	Het
Dst	T	A	1: 34,264,699 (GRCm39)	V2623E	probably damaging	Het
Dysf	T	C	6: 83,985,978 (GRCm39)	F28L	probably benign	Het
Eogt	C	A	6: 97,120,926 (GRCm39)	V96F	probably benign	Het
Exoc1	A	T	5: 76,705,704 (GRCm39)	T464S	probably benign	Het
Fam234a	A	G	17: 26,435,551 (GRCm39)	Y278H	probably damaging	Het
Gatd3a	T	C	10: 77,999,405 (GRCm39)		probably null	Het
Gne	T	A	4: 44,044,962 (GRCm39)	I391L	probably benign	Het
Gpr22	G	T	12: 31,759,219 (GRCm39)	T301K	possibly damaging	Het
Gria1	A	G	11: 57,080,626 (GRCm39)	D203G	possibly damaging	Het
Grin2c	T	C	11: 115,140,974 (GRCm39)	E1048G	probably benign	Het
Hcn4	A	G	9: 58,751,456 (GRCm39)	T361A	unknown	Het
Herc2	T	C	7: 55,763,148 (GRCm39)	S918P	probably damaging	Het
Hr	A	G	14: 70,797,327 (GRCm39)	E520G	probably benign	Het
Idi1	T	G	13: 8,937,996 (GRCm39)	S147R	possibly damaging	Het
Irf9	G	A	14: 55,846,481 (GRCm39)	G464E	probably benign	Het
Kif16b	T	C	2: 142,704,390 (GRCm39)	Y63C	probably benign	Het
Klhl31	A	T	9: 77,557,903 (GRCm39)	E206D	probably benign	Het
Lrch3	A	G	16: 32,806,377 (GRCm39)	M454V	probably null	Het
Lrp1b	A	C	2: 41,172,161 (GRCm39)		probably null	Het
Lyst	A	G	13: 13,815,788 (GRCm39)	D1224G	possibly damaging	Het
Maf1	T	A	15: 76,236,696 (GRCm39)	F9L	probably benign	Het
Mrpl19	T	C	6: 81,940,962 (GRCm39)	N143S	probably benign	Het
Myo5c	A	G	9: 75,159,845 (GRCm39)	N291S	probably benign	Het
Myocd	G	T	11: 65,160,494 (GRCm39)	L11M	possibly damaging	Het
Or2ag2	G	A	7: 106,485,178 (GRCm39)	T282I	possibly damaging	Het
Or5ac20	C	A	16: 59,104,856 (GRCm39)	M1I	probably null	Het
Or5an10	A	C	19: 12,275,666 (GRCm39)	F277V	probably damaging	Het
Otogl	T	C	10: 107,713,887 (GRCm39)	I511V	possibly damaging	Het
Phf19	T	C	2: 34,796,567 (GRCm39)	Y121C	possibly damaging	Het
Pik3c2a	T	C	7: 115,949,350 (GRCm39)	T1346A	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Polr2b	A	G	5: 77,468,092 (GRCm39)	T131A	probably benign	Het
Pom121	T	C	5: 135,412,815 (GRCm39)	T456A	unknown	Het
Pom121l2	T	C	13: 22,167,316 (GRCm39)	L529S	probably damaging	Het
Prss34	A	G	17: 25,518,553 (GRCm39)	I214V	probably benign	Het
Prss42	A	G	9: 110,628,402 (GRCm39)	Y182C	probably damaging	Het
Rapgef1	A	G	2: 29,589,027 (GRCm39)	I223V	probably benign	Het
Rbbp6	C	T	7: 122,600,561 (GRCm39)	P1523S	unknown	Het
Ripk1	T	G	13: 34,193,666 (GRCm39)	N9K	probably benign	Het
Six4	A	G	12: 73,150,535 (GRCm39)	L670S	possibly damaging	Het
Skint6	C	T	4: 112,703,894 (GRCm39)	D994N	possibly damaging	Het
Slc18a1	T	C	8: 69,491,466 (GRCm39)	D516G	probably benign	Het
Slc35g3	A	T	11: 69,651,623 (GRCm39)	Y121N	probably damaging	Het
Slc41a1	T	G	1: 131,771,766 (GRCm39)	S393R	possibly damaging	Het
Smg7	T	C	1: 152,719,953 (GRCm39)	H818R	probably benign	Het
Sorl1	A	G	9: 41,900,655 (GRCm39)	Y1686H	probably damaging	Het
Stab1	G	T	14: 30,881,981 (GRCm39)	T521K	probably benign	Het
Stard9	T	A	2: 120,535,852 (GRCm39)	Y4036*	probably null	Het
Tek	T	G	4: 94,687,580 (GRCm39)		probably null	Het
Tex35	C	T	1: 156,927,742 (GRCm39)	D143N	probably damaging	Het
Tgm1	T	A	14: 55,946,352 (GRCm39)	H428L	probably benign	Het
Tigd3	G	A	19: 5,942,594 (GRCm39)	P179S	possibly damaging	Het
Tnip3	T	A	6: 65,591,779 (GRCm39)		probably null	Het
Ttc1	A	G	11: 43,627,240 (GRCm39)		probably null	Het
Utp20	C	T	10: 88,618,476 (GRCm39)	E1175K	probably benign	Het
Vmn1r151	A	T	7: 22,199,085 (GRCm39)	S7T	possibly damaging	Het
Vmn1r34	T	A	6: 66,614,777 (GRCm39)		probably benign	Het
Vmn2r74	A	T	7: 85,605,166 (GRCm39)	M494K	probably benign	Het
Vps26c	T	C	16: 94,302,505 (GRCm39)	N234D	probably damaging	Het
Vsig10l	T	C	7: 43,117,494 (GRCm39)	S594P	probably benign	Het
Zfp937	A	G	2: 150,081,076 (GRCm39)	S369G	probably benign	Het

Other mutations in Mllt10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01646:Mllt10	APN	2	18,127,128 (GRCm39)	missense	probably damaging	1.00
IGL02366:Mllt10	APN	2	18,069,898 (GRCm39)	missense	probably damaging	0.99
IGL02990:Mllt10	APN	2	18,128,522 (GRCm39)	splice site	probably benign
IGL03034:Mllt10	APN	2	18,069,847 (GRCm39)	start codon destroyed	probably null	0.55
R0348:Mllt10	UTSW	2	18,167,424 (GRCm39)	missense	probably damaging	1.00
R0487:Mllt10	UTSW	2	18,211,948 (GRCm39)	missense	probably damaging	0.98
R0492:Mllt10	UTSW	2	18,151,698 (GRCm39)	splice site	probably benign
R0518:Mllt10	UTSW	2	18,076,017 (GRCm39)	critical splice donor site	probably null
R0720:Mllt10	UTSW	2	18,201,406 (GRCm39)	missense	probably benign
R0733:Mllt10	UTSW	2	18,208,577 (GRCm39)	intron	probably benign
R1532:Mllt10	UTSW	2	18,097,646 (GRCm39)	critical splice donor site	probably null
R1665:Mllt10	UTSW	2	18,213,601 (GRCm39)	missense	possibly damaging	0.93
R1768:Mllt10	UTSW	2	18,167,657 (GRCm39)	missense	probably damaging	1.00
R2098:Mllt10	UTSW	2	18,167,464 (GRCm39)	missense	possibly damaging	0.50
R2114:Mllt10	UTSW	2	18,167,380 (GRCm39)	missense	probably benign
R2116:Mllt10	UTSW	2	18,167,380 (GRCm39)	missense	probably benign
R2117:Mllt10	UTSW	2	18,167,380 (GRCm39)	missense	probably benign
R2179:Mllt10	UTSW	2	18,215,604 (GRCm39)	missense	probably damaging	1.00
R2192:Mllt10	UTSW	2	18,211,871 (GRCm39)	missense	probably benign	0.11
R2510:Mllt10	UTSW	2	18,069,935 (GRCm39)	missense	possibly damaging	0.94
R2511:Mllt10	UTSW	2	18,069,935 (GRCm39)	missense	possibly damaging	0.94
R4669:Mllt10	UTSW	2	18,208,444 (GRCm39)	missense	probably damaging	1.00
R5004:Mllt10	UTSW	2	18,175,079 (GRCm39)	missense	probably damaging	1.00
R5072:Mllt10	UTSW	2	18,114,685 (GRCm39)	missense	possibly damaging	0.72
R5187:Mllt10	UTSW	2	18,213,585 (GRCm39)	nonsense	probably null
R5561:Mllt10	UTSW	2	18,114,656 (GRCm39)	missense	probably damaging	0.98
R6141:Mllt10	UTSW	2	18,215,604 (GRCm39)	missense	probably damaging	1.00
R6352:Mllt10	UTSW	2	18,128,604 (GRCm39)	missense	probably damaging	1.00
R6844:Mllt10	UTSW	2	18,164,294 (GRCm39)	missense	probably benign	0.02
R7060:Mllt10	UTSW	2	18,164,371 (GRCm39)	missense	possibly damaging	0.64
R7464:Mllt10	UTSW	2	18,175,090 (GRCm39)	missense	probably benign
R7691:Mllt10	UTSW	2	18,208,423 (GRCm39)	missense	probably null	0.94
R7691:Mllt10	UTSW	2	18,208,422 (GRCm39)	missense	possibly damaging	0.94
R7937:Mllt10	UTSW	2	18,210,895 (GRCm39)	missense	probably damaging	1.00
R7976:Mllt10	UTSW	2	18,167,214 (GRCm39)	missense	possibly damaging	0.94
R8079:Mllt10	UTSW	2	18,128,567 (GRCm39)	missense	probably damaging	0.99
R8084:Mllt10	UTSW	2	18,114,637 (GRCm39)	missense	probably damaging	0.99
R8518:Mllt10	UTSW	2	18,151,670 (GRCm39)	missense	probably damaging	0.99
R8768:Mllt10	UTSW	2	18,167,583 (GRCm39)	missense	probably damaging	1.00
R8826:Mllt10	UTSW	2	18,167,353 (GRCm39)	missense	probably benign	0.10
R8850:Mllt10	UTSW	2	18,201,469 (GRCm39)	missense	probably benign	0.33
R8932:Mllt10	UTSW	2	18,128,617 (GRCm39)	missense	probably benign	0.31
R9009:Mllt10	UTSW	2	18,167,163 (GRCm39)	missense	probably damaging	0.96
R9129:Mllt10	UTSW	2	18,167,404 (GRCm39)	missense	probably benign	0.41
R9514:Mllt10	UTSW	2	18,164,322 (GRCm39)	missense	probably damaging	1.00
R9602:Mllt10	UTSW	2	18,211,850 (GRCm39)	missense	probably damaging	1.00
R9706:Mllt10	UTSW	2	18,151,655 (GRCm39)	missense	possibly damaging	0.50
Z1177:Mllt10	UTSW	2	18,175,887 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGGCACTTGCTAATGGACTTG -3'
(R):5'- GGCAGGGGTCACAATTCTAAAAC -3'

Sequencing Primer
(F):5'- TGTGTATTCTTGAACTACCTGATTG -3'
(R):5'- CCCAGTTGGACAACTTAC -3'

Posted On

2020-09-15