Incidental Mutation 'IGL00494:Meak7'
ID 13250
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Meak7
Ensembl Gene ENSMUSG00000034105
Gene Name MTOR associated protein, eak-7 homolog
Synonyms 4632415K11Rik, Tldc1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00494
Quality Score
Status
Chromosome 8
Chromosomal Location 120486815-120505155 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120499334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 53 (K53E)
Ref Sequence ENSEMBL: ENSMUSP00000148691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049156] [ENSMUST00000212534]
AlphaFold Q8K0P3
Predicted Effect probably benign
Transcript: ENSMUST00000049156
AA Change: K53E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000044430
Gene: ENSMUSG00000034105
AA Change: K53E

DomainStartEndE-ValueType
TLDc 241 410 4.36e-69 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212501
Predicted Effect probably benign
Transcript: ENSMUST00000212534
AA Change: K53E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,621,108 (GRCm39) T271A possibly damaging Het
Amer3 A G 1: 34,627,608 (GRCm39) T616A probably benign Het
Cacna1d A T 14: 29,818,907 (GRCm39) M1216K probably damaging Het
Clec16a A T 16: 10,413,760 (GRCm39) K389M probably damaging Het
Grin2b T G 6: 135,713,329 (GRCm39) M851L possibly damaging Het
Hapln1 T C 13: 89,753,590 (GRCm39) V252A probably benign Het
Hspa13 A G 16: 75,554,880 (GRCm39) V402A possibly damaging Het
Lrfn1 T C 7: 28,159,442 (GRCm39) Y454H probably damaging Het
Map3k21 G A 8: 126,671,412 (GRCm39) S900N possibly damaging Het
Mdm1 C A 10: 118,000,346 (GRCm39) H615N probably damaging Het
Nabp1 A T 1: 51,516,687 (GRCm39) D60E probably damaging Het
Nmur1 T C 1: 86,314,084 (GRCm39) E361G probably benign Het
Pms1 A G 1: 53,245,715 (GRCm39) probably benign Het
Ralgapa1 T G 12: 55,793,970 (GRCm39) D555A probably damaging Het
Rbbp4 T C 4: 129,203,946 (GRCm39) E406G probably benign Het
Rp1l1 T A 14: 64,266,174 (GRCm39) C587S probably benign Het
Sez6l A T 5: 112,610,869 (GRCm39) N516K probably damaging Het
Taar7e T C 10: 23,914,038 (GRCm39) I176T probably benign Het
Tex14 G T 11: 87,446,310 (GRCm39) R1439S probably damaging Het
Tle3 T A 9: 61,316,039 (GRCm39) probably benign Het
Xntrpc T A 7: 101,736,754 (GRCm39) L327Q probably damaging Het
Other mutations in Meak7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Meak7 APN 8 120,500,007 (GRCm39) splice site probably benign
IGL02679:Meak7 APN 8 120,499,149 (GRCm39) missense probably benign 0.00
IGL02896:Meak7 APN 8 120,489,164 (GRCm39) missense probably damaging 1.00
R0126:Meak7 UTSW 8 120,489,089 (GRCm39) missense possibly damaging 0.93
R0456:Meak7 UTSW 8 120,495,162 (GRCm39) missense probably damaging 0.96
R1831:Meak7 UTSW 8 120,497,992 (GRCm39) missense probably null 0.00
R2919:Meak7 UTSW 8 120,495,056 (GRCm39) missense probably benign
R3114:Meak7 UTSW 8 120,495,056 (GRCm39) missense probably benign
R3116:Meak7 UTSW 8 120,495,056 (GRCm39) missense probably benign
R4763:Meak7 UTSW 8 120,495,122 (GRCm39) missense probably benign 0.09
R4796:Meak7 UTSW 8 120,495,093 (GRCm39) missense probably benign 0.13
R4858:Meak7 UTSW 8 120,499,262 (GRCm39) missense probably benign 0.17
R4976:Meak7 UTSW 8 120,494,882 (GRCm39) missense probably damaging 0.97
R5119:Meak7 UTSW 8 120,494,882 (GRCm39) missense probably damaging 0.97
R5393:Meak7 UTSW 8 120,499,157 (GRCm39) missense probably benign 0.13
R6811:Meak7 UTSW 8 120,495,029 (GRCm39) missense possibly damaging 0.95
R6828:Meak7 UTSW 8 120,499,306 (GRCm39) missense possibly damaging 0.51
R7237:Meak7 UTSW 8 120,489,054 (GRCm39) missense probably damaging 1.00
R8536:Meak7 UTSW 8 120,490,787 (GRCm39) missense probably benign 0.01
R9047:Meak7 UTSW 8 120,489,050 (GRCm39) missense probably benign 0.00
R9375:Meak7 UTSW 8 120,498,096 (GRCm39) missense probably benign
R9414:Meak7 UTSW 8 120,495,081 (GRCm39) missense probably benign 0.01
R9668:Meak7 UTSW 8 120,488,514 (GRCm39) missense probably damaging 1.00
R9731:Meak7 UTSW 8 120,498,010 (GRCm39) missense probably benign 0.16
Posted On 2012-12-06