Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01893:Mlst8'

179305

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mlst8

Ensembl Gene

ENSMUSG00000024142

Gene Name

MTOR associated protein, LST8 homolog (S. cerevisiae)

Synonyms

mLST8, Gbl, 0610033N12Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01893

Quality Score

Status

Chromosome

Chromosomal Location

24692525-24698052 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24696961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 74 (N74D)

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: N74D

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000065004
Gene: ENSMUSG00000024142
AA Change: N74D

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: N74D

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000136287
Gene: ENSMUSG00000024142
AA Change: N74D

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

Coding Region Coverage

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	A	3: 116,582,198 (GRCm39)	I275F	probably damaging	Het
Avil	G	A	10: 126,856,415 (GRCm39)	E815K	possibly damaging	Het
Car9	T	A	4: 43,510,252 (GRCm39)	I278N	probably damaging	Het
Cast	T	A	13: 74,875,408 (GRCm39)	K480*	probably null	Het
Cenpj	A	G	14: 56,790,931 (GRCm39)	F373L	probably damaging	Het
Cspp1	T	C	1: 10,204,366 (GRCm39)		probably null	Het
Diaph3	G	A	14: 87,156,288 (GRCm39)	T675I	possibly damaging	Het
Dip2b	A	T	15: 100,069,101 (GRCm39)		probably benign	Het
Dnah1	T	C	14: 30,988,427 (GRCm39)	D3425G	probably damaging	Het
Dolk	A	G	2: 30,175,926 (GRCm39)	Y40H	probably benign	Het
Drosha	T	C	15: 12,866,736 (GRCm39)		probably benign	Het
Dusp15	A	G	2: 152,790,956 (GRCm39)		probably null	Het
Edrf1	T	C	7: 133,258,831 (GRCm39)	F770L	probably benign	Het
Gabra1	T	C	11: 42,024,586 (GRCm39)	K363R	possibly damaging	Het
Glipr1l1	A	C	10: 111,912,074 (GRCm39)	T203P	probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
H2-Q10	T	C	17: 35,784,168 (GRCm39)	S270P	probably damaging	Het
Hipk2	A	T	6: 38,795,330 (GRCm39)	M313K	probably benign	Het
Htt	T	A	5: 35,034,174 (GRCm39)	I1920N	probably damaging	Het
Lsr	A	T	7: 30,661,657 (GRCm39)	V210E	possibly damaging	Het
Mbtd1	A	T	11: 93,812,238 (GRCm39)	I181L	probably null	Het
Mettl16	A	T	11: 74,696,097 (GRCm39)	T273S	possibly damaging	Het
Nek9	A	G	12: 85,383,174 (GRCm39)	I102T	probably damaging	Het
Nme7	C	T	1: 164,172,850 (GRCm39)	A187V	probably damaging	Het
Nphp1	A	T	2: 127,611,564 (GRCm39)	W261R	probably damaging	Het
Or12e13	G	T	2: 87,664,207 (GRCm39)	G275*	probably null	Het
Or2h2	A	G	17: 37,396,760 (GRCm39)	L99P	probably damaging	Het
Or4f14	A	T	2: 111,742,589 (GRCm39)	S229T	possibly damaging	Het
Orc6	A	G	8: 86,034,272 (GRCm39)	D165G	probably damaging	Het
Ovca2	A	G	11: 75,069,133 (GRCm39)	S89P	probably benign	Het
Pcdhb12	T	G	18: 37,570,263 (GRCm39)	S470A	probably benign	Het
Phactr2	T	C	10: 13,122,932 (GRCm39)	T397A	probably benign	Het
Pms2	T	C	5: 143,860,337 (GRCm39)	L50P	probably damaging	Het
Prr36	G	A	8: 4,265,243 (GRCm39)	P169L	probably damaging	Het
Serpinb11	C	A	1: 107,305,387 (GRCm39)	S254R	probably benign	Het
Serpinb11	C	A	1: 107,305,388 (GRCm39)	Q255K	probably benign	Het
Skap2	T	C	6: 51,851,556 (GRCm39)	T79A	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Tbx19	A	T	1: 164,967,767 (GRCm39)	S327T	possibly damaging	Het
Themis3	A	G	17: 66,866,622 (GRCm39)	L206P	possibly damaging	Het
Tmem132c	T	A	5: 127,540,093 (GRCm39)	L373Q	possibly damaging	Het
Unc13c	G	T	9: 73,600,648 (GRCm39)	N1365K	probably benign	Het
Vmn2r106	A	T	17: 20,497,730 (GRCm39)	M503K	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r33	A	G	7: 7,566,776 (GRCm39)	I112T	probably benign	Het
Vps13a	A	C	19: 16,641,139 (GRCm39)	W2328G	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
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
R3406: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

Posted On

2014-05-07