Incidental Mutation 'IGL01161:Gml'
ID 53986
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gml
Ensembl Gene ENSMUSG00000068349
Gene Name glycosylphosphatidylinositol anchored molecule like
Synonyms EG625599
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL01161
Quality Score
Status
Chromosome 15
Chromosomal Location 74685301-74690664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 74685688 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold E9PX31
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: 103,535,463 (GRCm39) D543E probably benign Het
Acad9 A C 3: 36,144,274 (GRCm39) N583T possibly damaging Het
Arhgap5 G A 12: 52,563,643 (GRCm39) V205M probably damaging Het
Arid1b G A 17: 5,392,674 (GRCm39) R2068Q probably damaging Het
Bex3 T C X: 135,172,218 (GRCm39) F60S probably damaging Het
Casd1 C T 6: 4,619,833 (GRCm39) P193S possibly damaging Het
Ceacam11 A T 7: 17,712,435 (GRCm39) I295F possibly damaging Het
Ceacam3 T A 7: 16,885,782 (GRCm39) N128K probably benign Het
Cyp1a2 C T 9: 57,587,176 (GRCm39) E372K probably damaging Het
Ddb1 T G 19: 10,583,071 (GRCm39) M1R probably null Het
Ecel1 T C 1: 87,080,915 (GRCm39) D329G possibly damaging Het
Fat2 T C 11: 55,175,017 (GRCm39) N1899D probably benign Het
Gli3 A G 13: 15,722,983 (GRCm39) probably null Het
Gm20507 A T 17: 33,863,727 (GRCm39) probably benign Het
Gpr119 G T X: 47,762,125 (GRCm39) probably benign Het
Hcn1 T C 13: 117,793,458 (GRCm39) Y237H unknown Het
Hook2 G A 8: 85,721,560 (GRCm39) V273I probably benign Het
Il12rb2 T C 6: 67,338,849 (GRCm39) probably benign Het
Kdm2a A G 19: 4,369,279 (GRCm39) F1112S probably benign Het
Lpl A T 8: 69,345,277 (GRCm39) K94* probably null Het
Lrrc8a T A 2: 30,145,822 (GRCm39) L212Q probably damaging Het
Me2 A T 18: 73,903,887 (GRCm39) probably benign Het
Mmp11 A T 10: 75,762,655 (GRCm39) M266K probably benign Het
Mprip T A 11: 59,622,399 (GRCm39) V162E possibly damaging Het
Nsf C T 11: 103,752,711 (GRCm39) probably benign Het
Or56b2 T C 7: 104,337,588 (GRCm39) V122A probably benign Het
Pcif1 T A 2: 164,727,708 (GRCm39) L167H probably damaging Het
Reps1 T C 10: 17,969,643 (GRCm39) S249P probably damaging Het
Sdf4 T A 4: 156,093,763 (GRCm39) M299K probably benign Het
Slc30a7 A G 3: 115,747,759 (GRCm39) V344A possibly damaging Het
Svep1 G A 4: 58,146,569 (GRCm39) P358S probably damaging Het
Syt9 G T 7: 107,024,356 (GRCm39) R83L probably damaging Het
Tbc1d15 T C 10: 115,038,435 (GRCm39) I593V probably benign Het
Trio T A 15: 27,749,867 (GRCm39) N1134I probably damaging Het
Trpv3 A G 11: 73,187,544 (GRCm39) probably benign Het
Ugp2 T A 11: 21,273,273 (GRCm39) I449L possibly damaging Het
Usp24 C A 4: 106,294,041 (GRCm39) H2595N probably benign Het
Vat1l A G 8: 115,096,629 (GRCm39) N370S possibly damaging Het
Wwc1 C A 11: 35,758,103 (GRCm39) D748Y probably damaging Het
Zfyve9 G A 4: 108,538,261 (GRCm39) H1002Y probably damaging Het
Other mutations in Gml
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01113:Gml APN 15 74,685,576 (GRCm39) missense probably benign 0.00
IGL02415:Gml APN 15 74,688,289 (GRCm39) nonsense probably null
R0674:Gml UTSW 15 74,685,709 (GRCm39) missense probably damaging 1.00
R1716:Gml UTSW 15 74,685,665 (GRCm39) missense possibly damaging 0.81
R1757:Gml UTSW 15 74,685,462 (GRCm39) unclassified probably benign
R1827:Gml UTSW 15 74,688,280 (GRCm39) missense probably benign 0.00
R1941:Gml UTSW 15 74,689,020 (GRCm39) missense probably damaging 0.99
R3783:Gml UTSW 15 74,685,521 (GRCm39) missense probably damaging 0.98
R4007:Gml UTSW 15 74,685,548 (GRCm39) missense possibly damaging 0.59
R5326:Gml UTSW 15 74,688,299 (GRCm39) missense probably damaging 1.00
R7378:Gml UTSW 15 74,688,970 (GRCm39) missense possibly damaging 0.89
R7790:Gml UTSW 15 74,685,462 (GRCm39) unclassified probably benign
R8298:Gml UTSW 15 74,685,541 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-28