Incidental Mutation 'R6668:Mlst8'
ID 527083
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 044788-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6668 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 24692525-24698052 bp(-) (GRCm39)
Type of Mutation splice site (2092 bp from exon)
DNA Base Change (assembly) A to G at 24696453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054946] [ENSMUST00000070888] [ENSMUST00000164508] [ENSMUST00000179163]
AlphaFold Q9DCJ1
Predicted Effect probably null
Transcript: ENSMUST00000054946
SMART Domains Protein: ENSMUSP00000059792
Gene: ENSMUSG00000045744

DomainStartEndE-ValueType
BRICHOS 44 139 1.15e-37 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000070888
AA Change: I124T

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000065004
Gene: ENSMUSG00000024142
AA Change: I124T

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 null
Transcript: ENSMUST00000164508
SMART Domains Protein: ENSMUSP00000130417
Gene: ENSMUSG00000045744

DomainStartEndE-ValueType
BRICHOS 44 139 1.15e-37 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000179163
AA Change: I124T

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136287
Gene: ENSMUSG00000024142
AA Change: I124T

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 0.1043 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (42/42)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat G T 11: 116,486,868 (GRCm39) probably benign Het
Adam26b A T 8: 43,973,727 (GRCm39) V425D possibly damaging Het
Ahctf1 A G 1: 179,579,972 (GRCm39) S2077P probably benign Het
Amacr A G 15: 10,983,468 (GRCm39) T93A probably benign Het
Arsb T A 13: 93,930,728 (GRCm39) probably null Het
Bcas3 G A 11: 85,692,677 (GRCm39) R354Q probably damaging Het
Chia1 C T 3: 106,038,264 (GRCm39) L387F probably damaging Het
Cyp24a1 A T 2: 170,327,805 (GRCm39) probably null Het
Dennd4a G A 9: 64,794,247 (GRCm39) G689S probably damaging Het
Elovl4 G A 9: 83,688,039 (GRCm39) A18V probably benign Het
Fam135a A T 1: 24,067,929 (GRCm39) V80E probably damaging Het
Fmo2 T A 1: 162,704,617 (GRCm39) T430S probably benign Het
Fpgs T C 2: 32,577,618 (GRCm39) I213V probably benign Het
Gm10134 A T 2: 28,396,263 (GRCm39) R53* probably null Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Ift172 T C 5: 31,412,683 (GRCm39) N1524S probably benign Het
Kif1b G A 4: 149,297,864 (GRCm39) S1104F probably benign Het
Map3k21 T C 8: 126,652,852 (GRCm39) V326A possibly damaging Het
Muc16 A T 9: 18,551,681 (GRCm39) S4871T probably benign Het
Myo1d A G 11: 80,474,701 (GRCm39) probably benign Het
Ndufa3 A G 7: 3,622,465 (GRCm39) Y41C probably damaging Het
Nfkbid T A 7: 30,123,866 (GRCm39) L142Q probably benign Het
Or8b38 T A 9: 37,973,066 (GRCm39) M150K possibly damaging Het
Peg10 T A 6: 4,754,502 (GRCm39) D94E probably benign Het
Phactr3 A T 2: 177,974,657 (GRCm39) I492F probably damaging Het
Plxna2 T C 1: 194,492,396 (GRCm39) V1751A possibly damaging Het
Prss16 T C 13: 22,190,918 (GRCm39) E238G probably null Het
Rad51ap2 T C 12: 11,507,647 (GRCm39) V523A probably benign Het
Rbm33 T A 5: 28,547,498 (GRCm39) S223T probably benign Het
Ryk T A 9: 102,746,475 (GRCm39) F137I possibly damaging Het
Sars2 G A 7: 28,446,429 (GRCm39) E194K probably benign Het
Spata2l T C 8: 123,960,167 (GRCm39) D374G probably damaging Het
Tenm2 A G 11: 35,937,592 (GRCm39) probably null Het
Ubr4 A G 4: 139,192,652 (GRCm39) K1097E probably damaging Het
Ulk4 A T 9: 121,017,408 (GRCm39) V690E probably damaging Het
Usp34 A G 11: 23,410,659 (GRCm39) N2703S probably damaging Het
Zfp273 C G 13: 67,973,243 (GRCm39) L124V probably damaging Het
Zfp608 A G 18: 55,031,091 (GRCm39) S950P probably damaging Het
Zfp994 A T 17: 22,420,081 (GRCm39) H289Q probably damaging 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
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
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'- ATCAGCTGCTCATTGTGGTC -3'
(R):5'- TTCACTGACCTCAAGCTTGTG -3'

Sequencing Primer
(F):5'- ATGTGGATAGCACCGCTCTGATC -3'
(R):5'- CTTGTGGAGAAAGAGCTAAACTTCAC -3'
Posted On 2018-07-23