Incidental Mutation 'R4517:Mlst8'
ID 332967
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 041761-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4517 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 24692525-24698052 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24695031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 284 (Y284C)
Ref Sequence ENSEMBL: ENSMUSP00000136287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053024] [ENSMUST00000054946] [ENSMUST00000070888] [ENSMUST00000164508] [ENSMUST00000179163]
AlphaFold Q9DCJ1
Predicted Effect probably benign
Transcript: ENSMUST00000053024
SMART Domains Protein: ENSMUSP00000052866
Gene: ENSMUSG00000043445

DomainStartEndE-ValueType
Pfam:Hydrolase 28 270 9.3e-14 PFAM
Pfam:Hydrolase_6 31 139 7.2e-30 PFAM
Pfam:Hydrolase_like 232 315 3.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000054946
SMART Domains Protein: ENSMUSP00000059792
Gene: ENSMUSG00000045744

DomainStartEndE-ValueType
BRICHOS 44 139 1.15e-37 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000070888
AA Change: Y284C

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000065004
Gene: ENSMUSG00000024142
AA Change: Y284C

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
BRICHOS 44 139 1.15e-37 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000179163
AA Change: Y284C

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136287
Gene: ENSMUSG00000024142
AA Change: Y284C

DomainStartEndE-ValueType
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 0.7793 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank A G 15: 27,562,835 (GRCm39) H181R possibly damaging Het
B4galnt4 A G 7: 140,647,635 (GRCm39) K408E probably damaging Het
Cd209a T A 8: 3,795,525 (GRCm39) D123V probably damaging Het
Cyp4f37 A G 17: 32,850,566 (GRCm39) I340V probably benign Het
Echs1 A G 7: 139,692,409 (GRCm39) S113P possibly damaging Het
Fap T C 2: 62,361,059 (GRCm39) I391V probably benign Het
Glb1l C T 1: 75,185,347 (GRCm39) C121Y probably damaging Het
Glod4 T A 11: 76,134,397 (GRCm39) D25V probably damaging Het
Gpc5 T A 14: 115,789,651 (GRCm39) N508K possibly damaging Het
H2-M10.3 C T 17: 36,678,722 (GRCm39) probably null Het
Ibsp C A 5: 104,453,863 (GRCm39) S67* probably null Het
Ifit1bl2 C T 19: 34,607,164 (GRCm39) probably benign Het
Iqgap2 A G 13: 95,800,569 (GRCm39) probably null Het
Kcnma1 A G 14: 23,387,097 (GRCm39) S982P probably damaging Het
Kif5b T C 18: 6,213,272 (GRCm39) S707G probably benign Het
Lrrk2 A G 15: 91,589,323 (GRCm39) I437V probably benign Het
Mapkbp1 T C 2: 119,855,545 (GRCm39) probably benign Het
Mcu T C 10: 59,303,456 (GRCm39) Y127C probably damaging Het
Nr2f2 T G 7: 70,007,870 (GRCm39) N204T probably benign Het
Or13a26 A G 7: 140,285,004 (GRCm39) Y280C probably damaging Het
Or7a42 T A 10: 78,791,877 (GRCm39) Y279* probably null Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pcf11 T C 7: 92,295,696 (GRCm39) Y1451C probably damaging Het
Plekhn1 T C 4: 156,309,988 (GRCm39) S109G probably damaging Het
Rttn T C 18: 89,047,097 (GRCm39) S920P probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Tas2r135 A T 6: 42,383,013 (GRCm39) H184L probably benign Het
Tmem38a C T 8: 73,326,005 (GRCm39) P20S possibly damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn2r102 A G 17: 19,901,475 (GRCm39) Y534C probably damaging Het
Wdr62 A G 7: 29,969,683 (GRCm39) V259A probably damaging Het
Whrn A G 4: 63,379,517 (GRCm39) probably null Het
Other mutations in Mlst8
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TAACCCAGCACACTGTCATTG -3'
(R):5'- TGAGACACCCCATGTTCAAC -3'

Sequencing Primer
(F):5'- GCAGACGACAGCTTTCTGATG -3'
(R):5'- ATGTTCAACCCCAGGCTTC -3'
Posted On 2015-08-18