Incidental Mutation 'IGL02709:Memo1'
ID304505
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Memo1
Ensembl Gene ENSMUSG00000058704
Gene Namemediator of cell motility 1
Synonyms0610016J10Rik, D930048L02Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02709
Quality Score
Status
Chromosome17
Chromosomal Location74200706-74294883 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 74245032 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 90 (L90F)
Ref Sequence ENSEMBL: ENSMUSP00000077553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078459]
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
Aco1 G A 4: 40,180,199 V367M possibly damaging Het
Acsm5 G A 7: 119,534,818 W274* probably null Het
Ago1 G A 4: 126,453,640 Q135* probably null Het
AI314180 A G 4: 58,872,699 S201P possibly damaging Het
Bmpr1b A T 3: 141,856,553 L291Q probably damaging Het
Cdcp1 A G 9: 123,173,814 Y731H probably damaging Het
Clrn2 A G 5: 45,460,153 N122S probably damaging Het
Col4a3 G T 1: 82,679,112 G751W unknown Het
Ctsc C T 7: 88,308,139 A294V probably damaging Het
Cyp26a1 T C 19: 37,699,978 L316P probably damaging Het
Dennd6b A T 15: 89,190,922 probably benign Het
Dnah10 T A 5: 124,773,745 Y1659* probably null Het
Dspp A C 5: 104,177,250 D493A unknown Het
Dyrk1a C T 16: 94,685,243 A445V probably benign Het
E030025P04Rik C A 11: 109,139,498 probably benign Het
Foxd4 T C 19: 24,899,609 H409R probably damaging Het
Fubp3 A G 2: 31,595,331 probably benign Het
Gm5538 A G 3: 59,747,198 Y151C probably damaging Het
Herc1 A G 9: 66,497,680 K4511E probably damaging Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Map1lc3b T A 8: 121,596,029 L82Q probably damaging Het
Mcc A T 18: 44,445,810 S844T possibly damaging Het
Mccc1 A T 3: 35,990,739 *85K probably null Het
Mfrp A G 9: 44,103,264 H236R probably benign Het
Mmrn1 G A 6: 60,973,046 D327N probably damaging Het
Mycbp2 T C 14: 103,155,261 E3178G probably damaging Het
Pcsk9 A G 4: 106,447,689 probably benign Het
Pros1 T C 16: 62,898,945 L110P probably damaging Het
Reck A G 4: 43,913,791 Y215C probably damaging Het
Ripk4 T C 16: 97,743,566 D627G probably damaging Het
Rnf144a G T 12: 26,321,010 H151N probably damaging Het
Slc39a9 T A 12: 80,666,647 H106Q probably damaging Het
Stab2 A G 10: 86,846,165 probably benign Het
Sympk T G 7: 19,047,538 H806Q probably benign Het
Tars2 C A 3: 95,742,071 probably benign Het
Thap3 T A 4: 151,985,712 H75L probably damaging Het
Trappc8 T C 18: 20,837,178 I918M possibly damaging Het
Ube2j2 T C 4: 155,957,331 V249A probably damaging Het
Ubqln3 T G 7: 104,141,336 T516P probably benign Het
Unc13c A G 9: 73,558,956 S1810P probably benign Het
Vmn1r4 T A 6: 56,956,539 Y9* probably null Het
Vmn1r89 T A 7: 13,220,204 M221K probably damaging Het
Vmn2r1 G T 3: 64,104,934 V739F probably benign Het
Vmn2r25 C T 6: 123,839,764 R286Q possibly damaging Het
Vmn2r91 T A 17: 18,105,449 Y110N possibly damaging Het
Zbtb48 T C 4: 152,021,394 H418R probably damaging Het
Other mutations in Memo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01410:Memo1 APN 17 74241981 nonsense probably null
IGL01570:Memo1 APN 17 74217108 splice site probably benign
IGL03172:Memo1 APN 17 74245001 missense probably damaging 1.00
R0067:Memo1 UTSW 17 74225458 missense probably damaging 1.00
R1068:Memo1 UTSW 17 74225555 missense probably damaging 1.00
R1962:Memo1 UTSW 17 74245008 missense possibly damaging 0.54
R1964:Memo1 UTSW 17 74245008 missense possibly damaging 0.54
R2029:Memo1 UTSW 17 74245054 missense probably null 0.99
R3236:Memo1 UTSW 17 74202352 missense probably damaging 1.00
R4284:Memo1 UTSW 17 74255298 critical splice acceptor site probably null
R4285:Memo1 UTSW 17 74255298 critical splice acceptor site probably null
R4287:Memo1 UTSW 17 74255298 critical splice acceptor site probably null
R4427:Memo1 UTSW 17 74202307 missense probably benign 0.01
R4583:Memo1 UTSW 17 74258461 nonsense probably null
R4607:Memo1 UTSW 17 74258461 nonsense probably null
R4608:Memo1 UTSW 17 74258461 nonsense probably null
R6118:Memo1 UTSW 17 74202307 missense possibly damaging 0.52
R6769:Memo1 UTSW 17 74201278 missense probably damaging 1.00
R6771:Memo1 UTSW 17 74201278 missense probably damaging 1.00
R7226:Memo1 UTSW 17 74202343 missense probably damaging 1.00
Posted On2015-04-16