Incidental Mutation 'IGL01161:Gml'
ID53986
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gml
Ensembl Gene ENSMUSG00000068349
Gene Nameglycosylphosphatidylinositol anchored molecule like
SynonymsEG625599
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.102) question?
Stock #IGL01161
Quality Score
Status
Chromosome15
Chromosomal Location74813452-74818815 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 74813839 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Serine at position 99 (Y99S)
Ref Sequence ENSEMBL: ENSMUSP00000128174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096400] [ENSMUST00000164026] [ENSMUST00000185253]
Predicted Effect probably damaging
Transcript: ENSMUST00000096400
AA Change: Y99S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094131
Gene: ENSMUSG00000068349
AA Change: Y99S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
LU 47 141 2.3e-5 SMART
low complexity region 162 175 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164026
AA Change: Y99S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128174
Gene: ENSMUSG00000068349
AA Change: Y99S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
LU 47 141 2.3e-5 SMART
low complexity region 162 175 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000185253
AA Change: Y99S

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140245
Gene: ENSMUSG00000068349
AA Change: Y99S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:UPAR_LY6 49 104 3.8e-3 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 T A 2: 103,705,118 D543E probably benign Het
Acad9 A C 3: 36,090,125 N583T possibly damaging Het
Arhgap5 G A 12: 52,516,860 V205M probably damaging Het
Arid1b G A 17: 5,342,399 R2068Q probably damaging Het
Bex3 T C X: 136,271,469 F60S probably damaging Het
Casd1 C T 6: 4,619,833 P193S possibly damaging Het
Ceacam11 A T 7: 17,978,510 I295F possibly damaging Het
Ceacam3 T A 7: 17,151,857 N128K probably benign Het
Cyp1a2 C T 9: 57,679,893 E372K probably damaging Het
Ddb1 T G 19: 10,605,707 M1R probably null Het
Ecel1 T C 1: 87,153,193 D329G possibly damaging Het
Fat2 T C 11: 55,284,191 N1899D probably benign Het
Gli3 A G 13: 15,548,398 probably null Het
Gm20507 A T 17: 33,644,753 probably benign Het
Gpr119 G T X: 48,673,248 probably benign Het
Hcn1 T C 13: 117,656,922 Y237H unknown Het
Hook2 G A 8: 84,994,931 V273I probably benign Het
Il12rb2 T C 6: 67,361,865 probably benign Het
Kdm2a A G 19: 4,319,251 F1112S probably benign Het
Lpl A T 8: 68,892,625 K94* probably null Het
Lrrc8a T A 2: 30,255,810 L212Q probably damaging Het
Me2 A T 18: 73,770,816 probably benign Het
Mmp11 A T 10: 75,926,821 M266K probably benign Het
Mprip T A 11: 59,731,573 V162E possibly damaging Het
Nsf C T 11: 103,861,885 probably benign Het
Olfr661 T C 7: 104,688,381 V122A probably benign Het
Pcif1 T A 2: 164,885,788 L167H probably damaging Het
Reps1 T C 10: 18,093,895 S249P probably damaging Het
Sdf4 T A 4: 156,009,306 M299K probably benign Het
Slc30a7 A G 3: 115,954,110 V344A possibly damaging Het
Svep1 G A 4: 58,146,569 P358S probably damaging Het
Syt9 G T 7: 107,425,149 R83L probably damaging Het
Tbc1d15 T C 10: 115,202,530 I593V probably benign Het
Trio T A 15: 27,749,781 N1134I probably damaging Het
Trpv3 A G 11: 73,296,718 probably benign Het
Ugp2 T A 11: 21,323,273 I449L possibly damaging Het
Usp24 C A 4: 106,436,844 H2595N probably benign Het
Vat1l A G 8: 114,369,889 N370S possibly damaging Het
Wwc1 C A 11: 35,867,276 D748Y probably damaging Het
Zfyve9 G A 4: 108,681,064 H1002Y probably damaging Het
Other mutations in Gml
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01113:Gml APN 15 74813727 missense probably benign 0.00
IGL02415:Gml APN 15 74816440 nonsense probably null
R0674:Gml UTSW 15 74813860 missense probably damaging 1.00
R1716:Gml UTSW 15 74813816 missense possibly damaging 0.81
R1757:Gml UTSW 15 74813613 unclassified probably benign
R1827:Gml UTSW 15 74816431 missense probably benign 0.00
R1941:Gml UTSW 15 74817171 missense probably damaging 0.99
R3783:Gml UTSW 15 74813672 missense probably damaging 0.98
R4007:Gml UTSW 15 74813699 missense possibly damaging 0.59
R5326:Gml UTSW 15 74816450 missense probably damaging 1.00
R7378:Gml UTSW 15 74817121 missense possibly damaging 0.89
R7790:Gml UTSW 15 74813613 unclassified probably benign
Posted On2013-06-28