Incidental Mutation 'IGL02709:Memo1'
ID 304505
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Memo1
Ensembl Gene ENSMUSG00000058704
Gene Name mediator of cell motility 1
Synonyms D930048L02Rik, 0610016J10Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02709
Quality Score
Status
Chromosome 17
Chromosomal Location 74506031-74602516 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 74552027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 90 (L90F)
Ref Sequence ENSEMBL: ENSMUSP00000077553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078459]
AlphaFold Q91VH6
Predicted Effect probably damaging
Transcript: ENSMUST00000078459
AA Change: L90F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077553
Gene: ENSMUSG00000058704
AA Change: L90F

DomainStartEndE-ValueType
Pfam:Memo 9 293 3.7e-84 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a floxed allele activated postnatally exhibit a reduced life span, increased insulin sensitivity, small stature, graying hair, alopecia, kyphosis, loss of subcutaneous fat, loss of spermatozoa in the epididymis and increased active vitamin D. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,654,619 (GRCm39) Y151C probably damaging Het
Aco1 G A 4: 40,180,199 (GRCm39) V367M possibly damaging Het
Acsm5 G A 7: 119,134,041 (GRCm39) W274* probably null Het
Ago1 G A 4: 126,347,433 (GRCm39) Q135* probably null Het
Bmpr1b A T 3: 141,562,314 (GRCm39) L291Q probably damaging Het
Cdcp1 A G 9: 123,002,879 (GRCm39) Y731H probably damaging Het
Clrn2 A G 5: 45,617,495 (GRCm39) N122S probably damaging Het
Col4a3 G T 1: 82,656,833 (GRCm39) G751W unknown Het
Ctsc C T 7: 87,957,347 (GRCm39) A294V probably damaging Het
Cyp26a1 T C 19: 37,688,426 (GRCm39) L316P probably damaging Het
Dennd6b A T 15: 89,075,125 (GRCm39) probably benign Het
Dnah10 T A 5: 124,850,809 (GRCm39) Y1659* probably null Het
Dspp A C 5: 104,325,116 (GRCm39) D493A unknown Het
Dyrk1a C T 16: 94,486,102 (GRCm39) A445V probably benign Het
E030025P04Rik C A 11: 109,030,324 (GRCm39) probably benign Het
Ecpas A G 4: 58,872,699 (GRCm39) S201P possibly damaging Het
Foxd4 T C 19: 24,876,973 (GRCm39) H409R probably damaging Het
Fubp3 A G 2: 31,485,343 (GRCm39) probably benign Het
Herc1 A G 9: 66,404,962 (GRCm39) K4511E probably damaging Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Map1lc3b T A 8: 122,322,768 (GRCm39) L82Q probably damaging Het
Mcc A T 18: 44,578,877 (GRCm39) S844T possibly damaging Het
Mccc1 A T 3: 36,044,888 (GRCm39) *85K probably null Het
Mfrp A G 9: 44,014,561 (GRCm39) H236R probably benign Het
Mmrn1 G A 6: 60,950,030 (GRCm39) D327N probably damaging Het
Mycbp2 T C 14: 103,392,697 (GRCm39) E3178G probably damaging Het
Pcsk9 A G 4: 106,304,886 (GRCm39) probably benign Het
Pros1 T C 16: 62,719,308 (GRCm39) L110P probably damaging Het
Reck A G 4: 43,913,791 (GRCm39) Y215C probably damaging Het
Ripk4 T C 16: 97,544,766 (GRCm39) D627G probably damaging Het
Rnf144a G T 12: 26,371,009 (GRCm39) H151N probably damaging Het
Slc39a9 T A 12: 80,713,421 (GRCm39) H106Q probably damaging Het
Stab2 A G 10: 86,682,029 (GRCm39) probably benign Het
Sympk T G 7: 18,781,463 (GRCm39) H806Q probably benign Het
Tars2 C A 3: 95,649,383 (GRCm39) probably benign Het
Thap3 T A 4: 152,070,169 (GRCm39) H75L probably damaging Het
Trappc8 T C 18: 20,970,235 (GRCm39) I918M possibly damaging Het
Ube2j2 T C 4: 156,041,788 (GRCm39) V249A probably damaging Het
Ubqln3 T G 7: 103,790,543 (GRCm39) T516P probably benign Het
Unc13c A G 9: 73,466,238 (GRCm39) S1810P probably benign Het
Vmn1r4 T A 6: 56,933,524 (GRCm39) Y9* probably null Het
Vmn1r89 T A 7: 12,954,131 (GRCm39) M221K probably damaging Het
Vmn2r1 G T 3: 64,012,355 (GRCm39) V739F probably benign Het
Vmn2r25 C T 6: 123,816,723 (GRCm39) R286Q possibly damaging Het
Vmn2r91 T A 17: 18,325,711 (GRCm39) Y110N possibly damaging Het
Zbtb48 T C 4: 152,105,851 (GRCm39) H418R probably damaging Het
Other mutations in Memo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01410:Memo1 APN 17 74,548,976 (GRCm39) nonsense probably null
IGL01570:Memo1 APN 17 74,524,103 (GRCm39) splice site probably benign
IGL03172:Memo1 APN 17 74,551,996 (GRCm39) missense probably damaging 1.00
Tummy UTSW 17 74,508,273 (GRCm39) missense probably damaging 1.00
R0067:Memo1 UTSW 17 74,532,453 (GRCm39) missense probably damaging 1.00
R1068:Memo1 UTSW 17 74,532,550 (GRCm39) missense probably damaging 1.00
R1962:Memo1 UTSW 17 74,552,003 (GRCm39) missense possibly damaging 0.54
R1964:Memo1 UTSW 17 74,552,003 (GRCm39) missense possibly damaging 0.54
R2029:Memo1 UTSW 17 74,552,049 (GRCm39) missense probably null 0.99
R3236:Memo1 UTSW 17 74,509,347 (GRCm39) missense probably damaging 1.00
R4284:Memo1 UTSW 17 74,562,293 (GRCm39) critical splice acceptor site probably null
R4285:Memo1 UTSW 17 74,562,293 (GRCm39) critical splice acceptor site probably null
R4287:Memo1 UTSW 17 74,562,293 (GRCm39) critical splice acceptor site probably null
R4427:Memo1 UTSW 17 74,509,302 (GRCm39) missense probably benign 0.01
R4583:Memo1 UTSW 17 74,565,456 (GRCm39) nonsense probably null
R4607:Memo1 UTSW 17 74,565,456 (GRCm39) nonsense probably null
R4608:Memo1 UTSW 17 74,565,456 (GRCm39) nonsense probably null
R6118:Memo1 UTSW 17 74,509,302 (GRCm39) missense possibly damaging 0.52
R6769:Memo1 UTSW 17 74,508,273 (GRCm39) missense probably damaging 1.00
R6771:Memo1 UTSW 17 74,508,273 (GRCm39) missense probably damaging 1.00
R7226:Memo1 UTSW 17 74,509,338 (GRCm39) missense probably damaging 1.00
R7996:Memo1 UTSW 17 74,565,491 (GRCm39) missense probably damaging 1.00
R9696:Memo1 UTSW 17 74,524,041 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16