Incidental Mutation 'IGL01113:Gml'
ID52817
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: 0.101) question?
Stock #IGL01113
Quality Score
Status
Chromosome15
Chromosomal Location74813452-74818815 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 74813727 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 136 (M136I)
Ref Sequence ENSEMBL: ENSMUSP00000128174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096400] [ENSMUST00000164026] [ENSMUST00000185253]
Predicted Effect probably benign
Transcript: ENSMUST00000096400
AA Change: M136I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000094131
Gene: ENSMUSG00000068349
AA Change: M136I

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 benign
Transcript: ENSMUST00000164026
AA Change: M136I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128174
Gene: ENSMUSG00000068349
AA Change: M136I

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 benign
Transcript: ENSMUST00000185253
SMART Domains Protein: ENSMUSP00000140245
Gene: ENSMUSG00000068349

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544L04Rik A G 7: 135,397,142 noncoding transcript Het
Adgrv1 A T 13: 81,489,028 F3431L probably benign Het
Adk A G 14: 21,092,393 N21S probably damaging Het
Cacna2d3 A G 14: 29,300,731 probably benign Het
Camk2d C A 3: 126,780,412 A156E probably damaging Het
Ccdc171 G T 4: 83,661,810 W598L probably damaging Het
Cep85 C T 4: 134,148,761 V445I possibly damaging Het
Cftr A G 6: 18,270,253 Y814C probably damaging Het
Dctn1 T C 6: 83,179,897 S9P probably benign Het
Dmxl1 A G 18: 49,912,751 K2409R probably benign Het
Dnaaf1 T A 8: 119,582,578 I135N probably damaging Het
Eif3d G A 15: 77,963,315 T241M probably damaging Het
Etv1 T C 12: 38,781,792 probably benign Het
Gdpd3 C A 7: 126,767,825 S182R probably benign Het
Gm12888 C A 4: 121,318,324 C87F probably damaging Het
Gm5346 T C 8: 43,626,152 H345R probably damaging Het
Habp2 A G 19: 56,310,116 T137A probably benign Het
Igkv6-25 C T 6: 70,215,788 P60S possibly damaging Het
Mak A T 13: 41,042,143 W396R probably damaging Het
Mast4 C A 13: 102,774,236 C441F probably damaging Het
Medag T C 5: 149,429,907 I189T probably benign Het
Myh1 A G 11: 67,202,180 T71A probably benign Het
Nin G T 12: 70,031,779 L1678M probably damaging Het
Nol6 T C 4: 41,115,749 D1081G probably damaging Het
Olfr308 A T 7: 86,321,153 D266E probably benign Het
Olfr350 A T 2: 36,850,619 D191V probably damaging Het
Ppp1r10 T A 17: 35,929,559 N580K probably damaging Het
Rpgrip1l T C 8: 91,260,739 probably benign Het
Serpinb3a G A 1: 107,051,059 Q57* probably null Het
Thumpd3 T C 6: 113,060,060 S307P probably benign Het
Upf1 A C 8: 70,338,284 D577E probably benign Het
Vmn2r99 T C 17: 19,394,256 V746A probably benign Het
Wscd2 T C 5: 113,570,739 V268A probably damaging Het
Other mutations in Gml
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01161:Gml APN 15 74813839 missense probably damaging 1.00
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 On2013-06-21