Mutagenetix > Incidental Mutation

Incidental Mutation 'R8079:Mllt10'

629176

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.704) question?

Stock #

R8079 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18060048-18217199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18128567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 183 (N183D)

Ref Sequence

ENSEMBL: ENSMUSP00000028076 (fasta)

Gene Model

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

AlphaFold

O54826

Predicted Effect

probably damaging
Transcript: ENSMUST00000028076
AA Change: N183D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028076
Gene: ENSMUSG00000026743
AA Change: N183D

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 damaging
Transcript: ENSMUST00000114671
AA Change: N105D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000110319
Gene: ENSMUSG00000026743
AA Change: N105D

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 damaging
Transcript: ENSMUST00000114680
AA Change: N183D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110328
Gene: ENSMUSG00000026743
AA Change: N183D

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: 99.9%
3x: 99.7%
10x: 99.0%
20x: 96.5%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	G	5: 124,221,186 (GRCm39)	I255T	possibly damaging	Het
Ablim1	A	T	19: 57,170,656 (GRCm39)		probably null	Het
Akap10	G	A	11: 61,820,880 (GRCm39)	P8L	possibly damaging	Het
Ankle2	C	T	5: 110,379,182 (GRCm39)	A27V	probably damaging	Het
Anxa8	A	G	14: 33,816,769 (GRCm39)	T246A	probably benign	Het
Arhgap5	A	G	12: 52,613,988 (GRCm39)	N1460S	probably benign	Het
Arid5b	T	G	10: 67,934,186 (GRCm39)	D572A	possibly damaging	Het
Atrn	T	A	2: 130,855,561 (GRCm39)	L1278Q	probably null	Het
AU040320	G	T	4: 126,725,953 (GRCm39)	K454N	possibly damaging	Het
Baz2b	T	A	2: 59,731,112 (GRCm39)	R2085W	probably damaging	Het
Bbx	A	T	16: 50,030,821 (GRCm39)	N649K	probably damaging	Het
BC034090	G	A	1: 155,101,032 (GRCm39)	P411S	probably damaging	Het
Calcoco2	A	T	11: 95,998,363 (GRCm39)	F20Y	probably damaging	Het
Carmil2	A	G	8: 106,413,393 (GRCm39)	R50G	probably damaging	Het
Catspere2	A	G	1: 177,874,525 (GRCm39)	T131A	probably benign	Het
Cdcp1	C	A	9: 123,002,855 (GRCm39)	V739L	probably damaging	Het
Chit1	A	G	1: 134,071,765 (GRCm39)	T92A	possibly damaging	Het
Clstn3	A	G	6: 124,436,763 (GRCm39)	I185T	probably damaging	Het
Dctpp1	C	A	7: 126,858,561 (GRCm39)	V61L	probably damaging	Het
Dip2a	T	C	10: 76,123,155 (GRCm39)	T760A	probably benign	Het
Dock10	C	T	1: 80,556,421 (GRCm39)	V552I	probably benign	Het
Dpp8	A	G	9: 64,951,017 (GRCm39)	E151G	probably damaging	Het
Dvl2	G	C	11: 69,898,344 (GRCm39)	R367P	possibly damaging	Het
Fem1b	A	T	9: 62,703,643 (GRCm39)	I539N	probably damaging	Het
Frat2	A	T	19: 41,836,277 (GRCm39)	L25H	probably damaging	Het
Garnl3	A	T	2: 32,908,511 (GRCm39)		probably null	Het
Gh	T	C	11: 106,192,253 (GRCm39)	H47R	possibly damaging	Het
Glmp	T	C	3: 88,233,045 (GRCm39)	V61A	probably damaging	Het
Gm9925	T	C	18: 74,198,558 (GRCm39)	V129A	unknown	Het
H2-M9	T	A	17: 36,953,025 (GRCm39)	E94V	probably benign	Het
Hira	A	T	16: 18,744,507 (GRCm39)	Q408L	probably benign	Het
Hook3	A	G	8: 26,578,086 (GRCm39)		probably null	Het
Ifi206	G	A	1: 173,308,724 (GRCm39)	P424L		Het
Impdh2	T	C	9: 108,440,524 (GRCm39)	V270A	probably benign	Het
Klhl14	A	G	18: 21,785,022 (GRCm39)	I135T	probably benign	Het
Klra10	C	A	6: 130,252,738 (GRCm39)	V179L	probably benign	Het
Kmt2c	T	C	5: 25,507,730 (GRCm39)	S3236G	probably damaging	Het
Krt76	G	T	15: 101,796,825 (GRCm39)	A358D	possibly damaging	Het
Lacc1	C	A	14: 77,266,992 (GRCm39)	G424C	probably damaging	Het
Limch1	A	G	5: 67,204,096 (GRCm39)	I878V	possibly damaging	Het
Lipi	C	T	16: 75,362,418 (GRCm39)		probably null	Het
Lrrc17	C	T	5: 21,766,069 (GRCm39)	R184W	probably damaging	Het
Mterf2	C	T	10: 84,956,027 (GRCm39)	G199D	probably damaging	Het
Mucl3	T	C	17: 35,949,084 (GRCm39)	T172A	unknown	Het
Nat8f4	A	T	6: 85,877,976 (GRCm39)	S182R	probably benign	Het
Ndrg3	C	A	2: 156,779,452 (GRCm39)	E238*	probably null	Het
Nop14	A	T	5: 34,811,805 (GRCm39)	L194H	probably damaging	Het
Obscn	T	C	11: 58,972,731 (GRCm39)	E2105G	possibly damaging	Het
Or5b104	A	C	19: 13,072,648 (GRCm39)	Y121*	probably null	Het
Or5g9	A	T	2: 85,552,387 (GRCm39)	T213S	probably benign	Het
Or7g17	A	T	9: 18,768,725 (GRCm39)	Y259F	possibly damaging	Het
Or8k32	T	A	2: 86,368,725 (GRCm39)	H176L	possibly damaging	Het
Pbx3	C	T	2: 34,068,240 (GRCm39)	A320T	probably benign	Het
Pcdhac2	A	T	18: 37,279,197 (GRCm39)	S726C	probably damaging	Het
Pcdhgb2	A	G	18: 37,823,816 (GRCm39)	D269G	probably damaging	Het
Pcgf6	A	T	19: 47,034,271 (GRCm39)	S257T	probably damaging	Het
Pclo	A	T	5: 14,590,472 (GRCm39)	H924L	unknown	Het
Per3	T	A	4: 151,127,135 (GRCm39)	T129S	possibly damaging	Het
Pi4ka	A	T	16: 17,120,924 (GRCm39)	M1270K		Het
Plec	G	A	15: 76,063,750 (GRCm39)	Q2277*	probably null	Het
Pnma1	T	A	12: 84,194,109 (GRCm39)	K198M	probably damaging	Het
Prc1	T	A	7: 79,954,515 (GRCm39)	F196L	possibly damaging	Het
Prkcz	T	C	4: 155,441,962 (GRCm39)	T57A	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Robo4	A	G	9: 37,313,931 (GRCm39)	M61V	possibly damaging	Het
Rps12	C	T	10: 23,661,575 (GRCm39)	V79I	probably benign	Het
Rsph3a	A	G	17: 8,198,020 (GRCm39)	K466E	probably benign	Het
Scly	A	T	1: 91,236,089 (GRCm39)	I168F	probably damaging	Het
Setd1a	T	A	7: 127,384,225 (GRCm39)	F359I	unknown	Het
Sh3tc1	A	G	5: 35,864,201 (GRCm39)	L662P	possibly damaging	Het
Slc12a5	T	C	2: 164,834,372 (GRCm39)	W798R	probably damaging	Het
Slc16a6	C	T	11: 109,364,281 (GRCm39)	R13Q	unknown	Het
Slco1a8	T	G	6: 141,933,460 (GRCm39)	M462L	probably benign	Het
Smarcad1	A	G	6: 65,029,766 (GRCm39)	D118G	possibly damaging	Het
Sos2	T	C	12: 69,653,989 (GRCm39)	T788A	probably damaging	Het
Syvn1	A	G	19: 6,098,396 (GRCm39)	E75G	probably null	Het
Thpo	T	C	16: 20,545,144 (GRCm39)	E103G	probably benign	Het
Trav7d-3	A	T	14: 52,982,193 (GRCm39)	E78V	possibly damaging	Het
Uap1	A	G	1: 169,986,332 (GRCm39)	S217P	probably damaging	Het
Unc45a	T	G	7: 79,981,310 (GRCm39)	R497S	probably damaging	Het
Upf1	A	G	8: 70,791,534 (GRCm39)		probably null	Het
Usp47	A	T	7: 111,646,177 (GRCm39)	K28M	probably damaging	Het
Wdr72	A	C	9: 74,126,054 (GRCm39)	T1062P	probably damaging	Het
Wnt7b	A	T	15: 85,421,646 (GRCm39)	C339S	probably damaging	Het
Zfp954	G	T	7: 7,118,470 (GRCm39)	T358K	probably benign	Het
Zmynd15	G	T	11: 70,350,278 (GRCm39)		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
R7956:Mllt10	UTSW	2	18,175,068 (GRCm39)	missense	probably benign	0.01
R7976:Mllt10	UTSW	2	18,167,214 (GRCm39)	missense	possibly damaging	0.94
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'- CTTGCACTAATGAAGTAAGCAGGTG -3'
(R):5'- AGCTAACAGAATTCAACCTTCACTG -3'

Sequencing Primer
(F):5'- CTAATGAAGTAAGCAGGTGGTTCCC -3'
(R):5'- AGAATTCAACCTTCACTGGAAATC -3'

Posted On

2020-06-30