Mutagenetix > Incidental Mutation

Incidental Mutation 'R3406:Mlst8'

259403

Institutional Source

Beutler Lab

Gene Symbol

Mlst8

Ensembl Gene

ENSMUSG00000024142

Gene Name

MTOR associated protein, LST8 homolog (S. cerevisiae)

Synonyms

mLST8, Gbl, 0610033N12Rik

MMRRC Submission

040624-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3406 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24692525-24698052 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24697099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 56 (M56K)

Ref Sequence

ENSEMBL: ENSMUSP00000136287 (fasta)

Gene Model

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

AlphaFold

Q9DCJ1

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

probably benign
Transcript: ENSMUST00000070888
AA Change: M56K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000065004
Gene: ENSMUSG00000024142
AA Change: M56K

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

probably benign
Transcript: ENSMUST00000179163
AA Change: M56K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000136287
Gene: ENSMUSG00000024142
AA Change: M56K

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

0.6071

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.4%

Validation Efficiency

98% (52/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	A	3: 40,859,338 (GRCm39)	M1K	probably null	Het
Adam34l	A	T	8: 44,079,089 (GRCm39)	C378*	probably null	Het
Bdkrb2	T	C	12: 105,558,755 (GRCm39)	V332A	possibly damaging	Het
Cdc27	T	C	11: 104,398,026 (GRCm39)	E778G	probably damaging	Het
Chd4	C	A	6: 125,098,970 (GRCm39)	T1586K	probably benign	Het
Cnga3	A	G	1: 37,301,146 (GRCm39)	E622G	probably benign	Het
Dbh	A	G	2: 27,064,977 (GRCm39)	D396G	possibly damaging	Het
Dhodh	G	A	8: 110,330,107 (GRCm39)	R86*	probably null	Het
Dpt	A	C	1: 164,624,500 (GRCm39)	E67A	probably damaging	Het
Eif2ak2	A	G	17: 79,166,068 (GRCm39)		probably benign	Het
Esp4	T	A	17: 40,913,336 (GRCm39)	L68M	possibly damaging	Het
Exo1	A	G	1: 175,733,536 (GRCm39)	K787E	possibly damaging	Het
Fbxo38	T	C	18: 62,647,914 (GRCm39)	T875A	probably damaging	Het
Gsdma	T	C	11: 98,563,964 (GRCm39)		probably benign	Het
Hemk1	G	A	9: 107,214,415 (GRCm39)	Q6*	probably null	Het
Hmcn2	C	T	2: 31,323,284 (GRCm39)		probably benign	Het
Hook2	A	G	8: 85,720,613 (GRCm39)		probably benign	Het
Irx3	A	G	8: 92,525,555 (GRCm39)	S507P	unknown	Het
Kazn	C	A	4: 141,966,506 (GRCm39)		probably benign	Het
Kcne4	C	T	1: 78,795,688 (GRCm39)	A112V	possibly damaging	Het
Lamb1	C	T	12: 31,337,528 (GRCm39)	R372C	probably damaging	Het
Lrrc30	A	G	17: 67,939,175 (GRCm39)	L135P	probably damaging	Het
Lyst	T	A	13: 13,809,815 (GRCm39)	M495K	possibly damaging	Het
Mab21l3	C	A	3: 101,730,847 (GRCm39)	V131F	probably damaging	Het
Mki67	T	A	7: 135,309,204 (GRCm39)	T416S	probably benign	Het
Mmp9	A	G	2: 164,791,310 (GRCm39)	Y160C	probably damaging	Het
Mslnl	A	G	17: 25,965,155 (GRCm39)	Y507C	probably damaging	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Myl12a	A	T	17: 71,301,737 (GRCm39)	M130K	probably benign	Het
Nalf2	A	G	X: 98,889,109 (GRCm39)	I325V	probably benign	Het
Ncdn	C	T	4: 126,642,388 (GRCm39)	R423Q	probably benign	Het
Ncf2	A	G	1: 152,701,698 (GRCm39)		probably benign	Het
Nek8	G	T	11: 78,061,572 (GRCm39)	S319*	probably null	Het
Or11g7	G	A	14: 50,690,653 (GRCm39)	C48Y	probably benign	Het
Or52m2	T	C	7: 102,263,993 (GRCm39)	M68V	possibly damaging	Het
Pcdh17	T	A	14: 84,684,062 (GRCm39)	D176E	probably damaging	Het
Pcdhb15	C	A	18: 37,608,442 (GRCm39)	A558E	probably benign	Het
Plrg1	T	A	3: 82,978,526 (GRCm39)	W431R	probably damaging	Het
Rbfox3	T	A	11: 118,387,283 (GRCm39)	Q277L	possibly damaging	Het
Rpgrip1	G	A	14: 52,382,666 (GRCm39)	D600N	possibly damaging	Het
Siah3	A	G	14: 75,763,421 (GRCm39)	D224G	probably damaging	Het
Slc22a6	T	C	19: 8,598,675 (GRCm39)	L244P	probably damaging	Het
Stap2	A	T	17: 56,304,511 (GRCm39)	W374R	probably benign	Het
Tbck	T	A	3: 132,432,845 (GRCm39)	N418K	probably benign	Het
Tcp11x2	T	C	X: 134,555,733 (GRCm39)	N474S	probably damaging	Het
Tenm3	A	C	8: 48,681,590 (GRCm39)	V2680G	probably damaging	Het
Thada	A	T	17: 84,538,213 (GRCm39)		probably benign	Het
Tlr6	C	T	5: 65,110,772 (GRCm39)	V712M	probably damaging	Het
Uvssa	G	T	5: 33,547,162 (GRCm39)	G243C	probably damaging	Het
Vwa8	T	A	14: 79,401,660 (GRCm39)		probably benign	Het
Znrf2	A	T	6: 54,861,776 (GRCm39)	N229I	probably damaging	Het

Other mutations in Mlst8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Mlst8	APN	17	24,696,287 (GRCm39)	missense	probably damaging	1.00
IGL01893:Mlst8	APN	17	24,696,961 (GRCm39)	missense	probably benign	0.02
IGL02984:Mlst8	UTSW	17	24,695,127 (GRCm39)	missense	probably damaging	0.98
R0104:Mlst8	UTSW	17	24,695,091 (GRCm39)	missense	possibly damaging	0.55
R0104:Mlst8	UTSW	17	24,695,091 (GRCm39)	missense	possibly damaging	0.55
R1915:Mlst8	UTSW	17	24,696,264 (GRCm39)	nonsense	probably null
R1952:Mlst8	UTSW	17	24,696,987 (GRCm39)	frame shift	probably null
R1953:Mlst8	UTSW	17	24,696,987 (GRCm39)	frame shift	probably null
R1954:Mlst8	UTSW	17	24,696,195 (GRCm39)	missense	probably damaging	1.00
R3405:Mlst8	UTSW	17	24,697,099 (GRCm39)	missense	probably benign	0.03
R4517:Mlst8	UTSW	17	24,695,031 (GRCm39)	missense	probably damaging	0.96
R5021:Mlst8	UTSW	17	24,696,193 (GRCm39)	missense	possibly damaging	0.93
R6344:Mlst8	UTSW	17	24,696,300 (GRCm39)	missense	probably damaging	1.00
R6490:Mlst8	UTSW	17	24,696,935 (GRCm39)	missense	probably benign	0.01
R6668:Mlst8	UTSW	17	24,696,453 (GRCm39)	splice site	probably null
R6931:Mlst8	UTSW	17	24,696,249 (GRCm39)	missense	probably damaging	1.00
R7596:Mlst8	UTSW	17	24,697,084 (GRCm39)	critical splice donor site	probably null
R7685:Mlst8	UTSW	17	24,695,031 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GCAATGTTCTTACTGACTCCG -3'
(R):5'- ACAGTGCAGCATCAGGACTC -3'

Sequencing Primer
(F):5'- CTGACTCCGTCATAACTGATGATG -3'
(R):5'- AGTGCAGCATCAGGACTCTGTATC -3'

Posted On

2015-01-23