Mutagenetix > Incidental Mutation

Incidental Mutation 'R6344:Mlst8'

514074

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

044498-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6344 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24692525-24698052 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24696300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 143 (L143P)

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 damaging
Transcript: ENSMUST00000070888
AA Change: L143P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065004
Gene: ENSMUSG00000024142
AA Change: L143P

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 damaging
Transcript: ENSMUST00000179163
AA Change: L143P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136287
Gene: ENSMUSG00000024142
AA Change: L143P

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

1x: 100.0%
3x: 99.8%
10x: 98.3%
20x: 94.7%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	C	T	2: 25,327,706 (GRCm39)	P707L	probably damaging	Het
Bbip1	A	G	19: 53,919,912 (GRCm39)	V23A	probably benign	Het
Bdnf	A	T	2: 109,554,022 (GRCm39)	Y132F	probably benign	Het
C4bp	T	C	1: 130,583,752 (GRCm39)	D72G	probably benign	Het
Cdcp1	T	A	9: 123,011,447 (GRCm39)	K343N	possibly damaging	Het
Cep112	A	T	11: 108,410,000 (GRCm39)	Y472F	probably damaging	Het
Cops2	A	T	2: 125,700,899 (GRCm39)		probably benign	Het
Cyp27a1	T	C	1: 74,776,008 (GRCm39)		probably null	Het
Dnah7a	T	C	1: 53,436,349 (GRCm39)	I3998V	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dnhd1	A	G	7: 105,343,817 (GRCm39)	I1720M	probably benign	Het
Fkbpl	A	G	17: 34,864,544 (GRCm39)	K104R	probably damaging	Het
Helq	G	T	5: 100,914,594 (GRCm39)	A966E	probably benign	Het
Iba57	G	A	11: 59,049,119 (GRCm39)	P350L	probably damaging	Het
Iqgap3	T	C	3: 87,989,401 (GRCm39)		probably null	Het
Kcnj9	A	G	1: 172,153,713 (GRCm39)	V137A	probably benign	Het
Kif19a	G	A	11: 114,672,777 (GRCm39)		probably null	Het
Kmt2a	A	T	9: 44,733,156 (GRCm39)		probably benign	Het
Lilra5	T	A	7: 4,241,785 (GRCm39)	F195I	probably damaging	Het
Mcm9	A	G	10: 53,414,033 (GRCm39)	I349T	probably benign	Het
Mrc1	T	C	2: 14,248,985 (GRCm39)	F174L	probably damaging	Het
Muc5b	T	A	7: 141,416,708 (GRCm39)	L3218Q	possibly damaging	Het
Myo1h	A	G	5: 114,466,776 (GRCm39)	S275G	probably damaging	Het
Myo5a	T	A	9: 75,067,791 (GRCm39)	V615D	probably benign	Het
Myo9b	T	C	8: 71,780,558 (GRCm39)	L485P	probably damaging	Het
Nav1	A	G	1: 135,378,534 (GRCm39)	Y1646H	probably damaging	Het
Nsf	A	T	11: 103,752,730 (GRCm39)	V539D	probably damaging	Het
Nutm1	A	T	2: 112,079,247 (GRCm39)	N889K	possibly damaging	Het
Or2n1b	C	T	17: 38,459,611 (GRCm39)	A44V	probably benign	Het
Or55b3	A	G	7: 102,126,738 (GRCm39)	L113P	probably damaging	Het
Pcdhga2	T	A	18: 37,803,815 (GRCm39)	V553E	probably benign	Het
Pkmyt1	T	C	17: 23,951,730 (GRCm39)	S95P	possibly damaging	Het
Ranbp2	T	A	10: 58,319,708 (GRCm39)		probably null	Het
Saxo2	T	A	7: 82,284,073 (GRCm39)	I262F	probably damaging	Het
Sco1	C	T	11: 66,946,571 (GRCm39)	R115W	probably damaging	Het
Slc27a3	G	T	3: 90,294,961 (GRCm39)	Y330*	probably null	Het
Slc6a4	C	T	11: 76,909,080 (GRCm39)	T364I	probably damaging	Het
Slit2	A	G	5: 48,377,023 (GRCm39)	I388V	probably benign	Het
Smc6	C	A	12: 11,347,107 (GRCm39)		probably benign	Het
Snx25	C	T	8: 46,488,675 (GRCm39)	W747*	probably null	Het
Stard9	T	A	2: 120,534,801 (GRCm39)	M3686K	probably benign	Het
Syne1	T	C	10: 4,972,212 (GRCm39)	D8732G	probably benign	Het
Tcaf3	A	G	6: 42,574,105 (GRCm39)	S36P	possibly damaging	Het
Trpv6	T	C	6: 41,602,356 (GRCm39)		probably null	Het
Tspear	T	C	10: 77,710,847 (GRCm39)	F490L	possibly damaging	Het
Ttn	A	G	2: 76,552,196 (GRCm39)	I31147T	probably damaging	Het
Ugt3a1	A	C	15: 9,306,317 (GRCm39)	E155D	probably damaging	Het
Urb2	G	T	8: 124,757,864 (GRCm39)	E1190D	probably damaging	Het
Washc2	G	T	6: 116,235,719 (GRCm39)	Q977H	probably benign	Het
Yars2	T	A	16: 16,120,899 (GRCm39)	W18R	probably benign	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
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
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'- CCAGGGAGTCAACTCAAGTG -3'
(R):5'- TGTAACCTTAACTCCCCACAGG -3'

Sequencing Primer
(F):5'- TAGGTGCCAAGATGCCCC -3'
(R):5'- GTCCCGGAACTTGCAGTGTC -3'

Posted On

2018-04-27