Mutagenetix > Incidental Mutations

Incidental Mutation 'R5021:Mlst8'

389208

Institutional Source

Beutler Lab

Gene Symbol

Mlst8

Ensembl Gene

ENSMUSG00000024142

Gene Name

MTOR associated protein, LST8 homolog (S. cerevisiae)

Synonyms

Gbl, mLST8, 0610033N12Rik

MMRRC Submission

042612-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5021 (G1)

Quality Score

139

Status

Validated

Chromosome

Chromosomal Location

24473550-24479078 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24477219 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 179 (D179N)

Ref Sequence

ENSEMBL: ENSMUSP00000136287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054946] [ENSMUST00000070888] [ENSMUST00000164508] [ENSMUST00000179163]

Predicted Effect

probably benign
Transcript: ENSMUST00000054946

SMART Domains

Protein: ENSMUSP00000059792
Gene: ENSMUSG00000045744

Domain	Start	End	E-Value	Type
BRICHOS	44	139	1.15e-37	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070888
AA Change: D179N

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065004
Gene: ENSMUSG00000024142
AA Change: D179N

Domain	Start	End	E-Value	Type
Blast:WD40	1	28	6e-11	BLAST
WD40	31	69	1.67e-1	SMART
WD40	74	113	1.19e-6	SMART
WD40	118	156	1.63e-4	SMART
WD40	159	198	4.46e-1	SMART
WD40	209	248	2.26e-7	SMART
WD40	259	298	1.7e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164508

SMART Domains

Protein: ENSMUSP00000130417
Gene: ENSMUSG00000045744

Domain	Start	End	E-Value	Type
BRICHOS	44	139	1.15e-37	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179163
AA Change: D179N

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136287
Gene: ENSMUSG00000024142
AA Change: D179N

Domain	Start	End	E-Value	Type
Pfam:WD40	8	28	3.7e-3	PFAM
WD40	31	69	1.67e-1	SMART
WD40	74	113	1.19e-6	SMART
WD40	118	156	1.63e-4	SMART
WD40	159	198	4.46e-1	SMART
WD40	209	248	2.26e-7	SMART
WD40	259	298	1.7e-2	SMART

Meta Mutation Damage Score

0.1143

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.8%

Validation Efficiency

95% (39/41)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation exhibit lethality around E10.5 and abnormal yolk sac vasculature, brain development and heart development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano5	A	T	7: 51,556,185	T242S	probably benign	Het
B3gnt4	G	C	5: 123,510,947	R125P	probably damaging	Het
Blvrb	A	C	7: 27,448,118	M1L	probably benign	Het
Cep112	T	A	11: 108,470,328	H169Q	possibly damaging	Het
Clcn1	A	T	6: 42,310,988	K718*	probably null	Het
Clhc1	A	G	11: 29,560,627	N226S	probably benign	Het
Cpne1	T	C	2: 156,098,273		probably benign	Het
Cspg4	G	A	9: 56,897,730	V1942I	probably benign	Het
Decr2	A	T	17: 26,083,006	L250Q	probably damaging	Het
Depdc5	A	G	5: 32,979,414	T1343A	probably damaging	Het
Eed	A	T	7: 89,972,305	L45M	probably damaging	Het
Ep300	T	A	15: 81,640,023	S1351T	unknown	Het
Fam184b	T	A	5: 45,573,262	Q476L	probably benign	Het
Gm10722	A	C	9: 3,001,041	Y39S	probably benign	Het
Herc1	A	T	9: 66,470,326	K3458M	possibly damaging	Het
Ift122	A	G	6: 115,864,372	D39G	probably benign	Het
Igf2bp1	A	G	11: 95,974,006	Y206H	probably damaging	Het
Ighv1-19	T	C	12: 114,709,066	I6V	probably benign	Het
Itm2c	T	C	1: 85,905,338	I131T	probably damaging	Het
Kcnd3	A	T	3: 105,658,754	D417V	probably damaging	Het
Klf4	T	C	4: 55,530,970	E38G	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lct	T	C	1: 128,300,565	M1064V	probably benign	Het
Map4	C	T	9: 110,038,089	Q265*	probably null	Het
Mcf2l	T	G	8: 13,011,808	V893G	probably damaging	Het
Mup6	T	A	4: 59,964,352	N18K	probably damaging	Het
Nbeal2	G	A	9: 110,637,463	R764W	probably damaging	Het
Ncoa6	A	T	2: 155,406,949	S1478R	probably benign	Het
Pcdhga1	C	A	18: 37,663,823	R627S	probably damaging	Het
Sacm1l	A	G	9: 123,582,328	D394G	probably damaging	Het
Schip1	A	G	3: 68,495,252	T221A	probably benign	Het
Slc35c1	A	G	2: 92,459,021	Y47H	possibly damaging	Het
Tspan32	A	G	7: 143,014,978	D70G	probably damaging	Het
Vmn2r68	T	C	7: 85,233,734	Y270C	possibly damaging	Het
Zfp777	A	G	6: 48,042,127	V291A	probably damaging	Het

Other mutations in Mlst8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Mlst8	APN	17	24477313	missense	probably damaging	1.00
IGL01893:Mlst8	APN	17	24477987	missense	probably benign	0.02
IGL02984:Mlst8	UTSW	17	24476153	missense	probably damaging	0.98
R0104:Mlst8	UTSW	17	24476117	missense	possibly damaging	0.55
R0104:Mlst8	UTSW	17	24476117	missense	possibly damaging	0.55
R1915:Mlst8	UTSW	17	24477290	nonsense	probably null
R1952:Mlst8	UTSW	17	24478013	frame shift	probably null
R1953:Mlst8	UTSW	17	24478013	frame shift	probably null
R1954:Mlst8	UTSW	17	24477221	missense	probably damaging	1.00
R3405:Mlst8	UTSW	17	24478125	missense	probably benign	0.03
R3406:Mlst8	UTSW	17	24478125	missense	probably benign	0.03
R4517:Mlst8	UTSW	17	24476057	missense	probably damaging	0.96
R6344:Mlst8	UTSW	17	24477326	missense	probably damaging	1.00
R6490:Mlst8	UTSW	17	24477961	missense	probably benign	0.01
R6668:Mlst8	UTSW	17	24477479	unclassified	probably null
R6931:Mlst8	UTSW	17	24477275	missense	probably damaging	1.00
R7596:Mlst8	UTSW	17	24478110	critical splice donor site	probably null
R7685:Mlst8	UTSW	17	24476057	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGGACATGAGGAGTGGTACC -3'
(R):5'- CCAGGTGAGGAATGCTCATG -3'

Sequencing Primer
(F):5'- GTACCCAGGTGCCTGACTTTG -3'
(R):5'- TGAGGAATGCTCATGGGGCC -3'

Posted On

2016-06-06