Mutagenetix > Incidental Mutation

Incidental Mutation 'R5371:Mllt3'

428708

Institutional Source

Beutler Lab

Gene Symbol

Mllt3

Ensembl Gene

ENSMUSG00000028496

Gene Name

myeloid/lymphoid or mixed-lineage leukemia; translocated to, 3

Synonyms

Af9, 3830408D16Rik, 2210011H10Rik, D4Ertd321e, 2610012I03Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87688162-87951601 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87759093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 318 (I318M)

Ref Sequence

ENSEMBL: ENSMUSP00000077232 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078090] [ENSMUST00000142454]

AlphaFold

A2AM29

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078090
AA Change: I318M

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000077232
Gene: ENSMUSG00000028496
AA Change: I318M

Domain	Start	End	E-Value	Type
Pfam:YEATS	29	110	2.3e-29	PFAM
SCOP:d1l9ha_	126	173	9e-3	SMART
internal_repeat_1	195	214	9.17e-5	PROSPERO
internal_repeat_1	206	225	9.17e-5	PROSPERO
low complexity region	226	246	N/A	INTRINSIC
low complexity region	291	314	N/A	INTRINSIC
SCOP:d1qbkb_	315	467	7e-4	SMART
PDB:2LM0\|A	485	569	3e-48	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134555

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141526

Predicted Effect

probably benign
Transcript: ENSMUST00000142454

SMART Domains

Protein: ENSMUSP00000127376
Gene: ENSMUSG00000028496

Domain	Start	End	E-Value	Type
Pfam:YEATS	26	66	2.6e-15	PFAM

Meta Mutation Damage Score

0.0627

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

96% (71/74)

MGI Phenotype

PHENOTYPE: About 50% of homozygous null mice die perinatally while the remaining 50% become runted and die within two weeks of birth with severe defects of the axial skeleton, including anterior homeotic transformation of the cervical and thoracic regions, a deformed atlas and an extra cervical vertebra. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	G	T	7: 29,261,918 (GRCm39)		noncoding transcript	Het
Arpp21	G	A	9: 111,895,000 (GRCm39)	P755S	probably benign	Het
Aspm	C	T	1: 139,398,279 (GRCm39)	Q982*	probably null	Het
Atp5f1e	C	T	2: 174,304,319 (GRCm39)		probably benign	Het
BC024139	A	G	15: 76,004,886 (GRCm39)	*598Q	probably null	Het
Bcl6	T	A	16: 23,788,736 (GRCm39)	D544V	possibly damaging	Het
Ccdc9	A	T	7: 16,014,655 (GRCm39)	D195E	probably damaging	Het
Cd38	A	G	5: 44,026,225 (GRCm39)	N3S	probably benign	Het
Cfap46	A	T	7: 139,212,097 (GRCm39)		probably null	Het
Cmtr2	T	C	8: 110,948,044 (GRCm39)	F118S	probably damaging	Het
Cyp7a1	A	G	4: 6,268,378 (GRCm39)	F449S	probably damaging	Het
Dnah10	C	T	5: 124,820,693 (GRCm39)	A509V	probably benign	Het
Dsp	A	T	13: 38,378,865 (GRCm39)	Q1271L	probably damaging	Het
Edar	A	C	10: 58,443,274 (GRCm39)	V284G	possibly damaging	Het
Fdft1	A	G	14: 63,388,750 (GRCm39)	V294A	probably damaging	Het
Gba1	T	A	3: 89,112,778 (GRCm39)	V140E	probably benign	Het
Gm12185	A	T	11: 48,806,566 (GRCm39)	S208R	probably benign	Het
Gm21028	C	A	7: 42,227,946 (GRCm39)	E23*	probably null	Het
Gm6871	A	G	7: 41,222,992 (GRCm39)	L32P	probably benign	Het
Hhip	C	T	8: 80,724,220 (GRCm39)	V341M	probably damaging	Het
Kcnq2	C	A	2: 180,776,813 (GRCm39)	V25L	probably damaging	Het
Krit1	C	A	5: 3,881,551 (GRCm39)	H548N	probably damaging	Het
Kynu	C	T	2: 43,479,406 (GRCm39)	A100V	probably benign	Het
Lpp	T	C	16: 24,708,554 (GRCm39)	C295R	probably damaging	Het
Mdp1	A	G	14: 55,897,806 (GRCm39)	V9A	probably damaging	Het
Mpzl3	A	G	9: 44,966,510 (GRCm39)		probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mup8	A	G	4: 60,222,423 (GRCm39)	V16A	probably benign	Het
Myh13	T	A	11: 67,235,616 (GRCm39)		probably null	Het
Myh4	A	T	11: 67,150,150 (GRCm39)	Q1869L	probably damaging	Het
Nt5c	G	A	11: 115,381,643 (GRCm39)		probably null	Het
Olfr908	CACAACAACA	CACAACA	9: 38,427,434 (GRCm39)		probably benign	Het
Or13c7b	A	T	4: 43,821,058 (GRCm39)	M101K	probably damaging	Het
Or51h7	T	A	7: 102,591,719 (GRCm39)	M22L	probably benign	Het
Or5d43	C	A	2: 88,104,976 (GRCm39)	C139F	probably damaging	Het
Parp11	T	C	6: 127,447,755 (GRCm39)	F30L	probably damaging	Het
Pcdhgc3	A	T	18: 37,941,507 (GRCm39)	D636V	possibly damaging	Het
Ppp1cb	T	C	5: 32,643,332 (GRCm39)	F234L	probably damaging	Het
Rras2	A	T	7: 113,649,572 (GRCm39)	V164E	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,229,120 (GRCm39)		probably benign	Het
Scg3	T	C	9: 75,568,583 (GRCm39)	T390A	probably damaging	Het
Shh	C	A	5: 28,671,688 (GRCm39)	C25F	probably damaging	Het
Slc24a1	T	C	9: 64,856,550 (GRCm39)	K119R	unknown	Het
Speg	G	T	1: 75,408,037 (GRCm39)	R3244L	possibly damaging	Het
Spns1	A	G	7: 125,972,936 (GRCm39)		probably benign	Het
Sptbn4	A	C	7: 27,059,166 (GRCm39)		probably null	Het
Stap1	T	A	5: 86,244,375 (GRCm39)	F214Y	possibly damaging	Het
Tcerg1	T	A	18: 42,652,600 (GRCm39)	M76K	unknown	Het
Tjp1	A	T	7: 64,963,059 (GRCm39)	Y959*	probably null	Het
Tmprss11e	A	T	5: 86,875,225 (GRCm39)	C14S	probably benign	Het
Tnfrsf14	T	C	4: 155,006,934 (GRCm39)		probably null	Het
Tsfm	A	C	10: 126,847,512 (GRCm39)	V193G	probably benign	Het
Ube2q2l	T	A	6: 136,378,371 (GRCm39)	Y153F	probably benign	Het
Ush2a	A	T	1: 188,175,267 (GRCm39)	I1122L	probably benign	Het
Vmn1r74	T	A	7: 11,580,984 (GRCm39)	S95T	probably damaging	Het
Vmn2r98	G	A	17: 19,290,015 (GRCm39)	C517Y	probably damaging	Het
Vstm2b	G	A	7: 40,550,702 (GRCm39)	S99N	possibly damaging	Het
Zbtb24	A	G	10: 41,327,537 (GRCm39)	N141S	probably benign	Het
Zcchc4	T	G	5: 52,942,512 (GRCm39)	C106G	probably benign	Het

Other mutations in Mllt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01074:Mllt3	APN	4	87,710,118 (GRCm39)	missense	probably benign	0.00
IGL01078:Mllt3	APN	4	87,798,297 (GRCm39)	splice site	probably benign
IGL01337:Mllt3	APN	4	87,759,057 (GRCm39)	missense	probably damaging	0.99
IGL02664:Mllt3	APN	4	87,949,860 (GRCm39)	missense	probably damaging	1.00
PIT4504001:Mllt3	UTSW	4	87,692,324 (GRCm39)	missense	probably damaging	1.00
R0226:Mllt3	UTSW	4	87,758,969 (GRCm39)	missense	probably benign	0.00
R0415:Mllt3	UTSW	4	87,759,576 (GRCm39)	utr 3 prime	probably benign
R0540:Mllt3	UTSW	4	87,759,281 (GRCm39)	missense	possibly damaging	0.73
R0618:Mllt3	UTSW	4	87,759,504 (GRCm39)	utr 3 prime	probably benign
R0932:Mllt3	UTSW	4	87,707,621 (GRCm39)	missense	probably damaging	0.99
R1713:Mllt3	UTSW	4	87,701,901 (GRCm39)	missense	probably damaging	1.00
R4748:Mllt3	UTSW	4	87,759,018 (GRCm39)	missense	possibly damaging	0.60
R4928:Mllt3	UTSW	4	87,700,642 (GRCm39)	splice site	probably null
R5086:Mllt3	UTSW	4	87,707,535 (GRCm39)	missense	probably damaging	0.99
R5186:Mllt3	UTSW	4	87,759,232 (GRCm39)	missense	probably benign	0.00
R5359:Mllt3	UTSW	4	87,759,164 (GRCm39)	missense	probably benign	0.21
R5713:Mllt3	UTSW	4	87,759,448 (GRCm39)	missense	probably benign	0.01
R5787:Mllt3	UTSW	4	87,759,057 (GRCm39)	missense	probably damaging	0.99
R6346:Mllt3	UTSW	4	87,759,445 (GRCm39)	missense	probably damaging	1.00
R6462:Mllt3	UTSW	4	87,692,338 (GRCm39)	missense	probably damaging	1.00
R6621:Mllt3	UTSW	4	87,759,034 (GRCm39)	missense	possibly damaging	0.66
R6629:Mllt3	UTSW	4	87,759,504 (GRCm39)	utr 3 prime	probably benign
R7380:Mllt3	UTSW	4	87,710,180 (GRCm39)	missense	possibly damaging	0.85
R7600:Mllt3	UTSW	4	87,759,456 (GRCm39)	missense	probably benign	0.07
R8045:Mllt3	UTSW	4	87,759,350 (GRCm39)	missense	probably damaging	1.00
R8871:Mllt3	UTSW	4	87,759,552 (GRCm39)	utr 3 prime	probably benign
R9281:Mllt3	UTSW	4	87,707,566 (GRCm39)	missense	probably benign	0.12
R9300:Mllt3	UTSW	4	87,692,284 (GRCm39)	nonsense	probably null
R9341:Mllt3	UTSW	4	87,792,168 (GRCm39)	missense	possibly damaging	0.46
R9343:Mllt3	UTSW	4	87,792,168 (GRCm39)	missense	possibly damaging	0.46
R9544:Mllt3	UTSW	4	87,759,418 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGCTACTCACGTCAGATTTC -3'
(R):5'- AGTTCCTAAGATGGCCTTCAAGG -3'

Sequencing Primer
(F):5'- TCACGTCAGATTTCGAGGAC -3'
(R):5'- GATGGCCTTCAAGGAACCTAAAC -3'

Posted On

2016-09-06