Incidental Mutation 'IGL00861:Glmn'
ID10964
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glmn
Ensembl Gene ENSMUSG00000029276
Gene Nameglomulin, FKBP associated protein
Synonyms9330160J16Rik, Fap48, Fap68
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00861
Quality Score
Status
Chromosome5
Chromosomal Location107548967-107597888 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 107570139 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 304 (M304K)
Ref Sequence ENSEMBL: ENSMUSP00000098509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078021] [ENSMUST00000082121] [ENSMUST00000100949] [ENSMUST00000124546]
Predicted Effect probably benign
Transcript: ENSMUST00000078021
AA Change: M304K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000077168
Gene: ENSMUSG00000029276
AA Change: M304K

DomainStartEndE-ValueType
Pfam:Kinetochor_Ybp2 1 563 5.6e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000082121
AA Change: M304K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000080766
Gene: ENSMUSG00000029276
AA Change: M304K

DomainStartEndE-ValueType
Pfam:Kinetochor_Ybp2 1 563 3.5e-99 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000100949
AA Change: M304K

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098509
Gene: ENSMUSG00000029276
AA Change: M304K

DomainStartEndE-ValueType
Pfam:Kinetochor_Ybp2 1 404 1.1e-63 PFAM
Pfam:Kinetochor_Ybp2 402 499 1.5e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124546
SMART Domains Protein: ENSMUSP00000122129
Gene: ENSMUSG00000029276

DomainStartEndE-ValueType
Pfam:Kinetochor_Ybp2 1 95 6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143074
SMART Domains Protein: ENSMUSP00000122032
Gene: ENSMUSG00000106631

DomainStartEndE-ValueType
low complexity region 116 127 N/A INTRINSIC
low complexity region 364 375 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148505
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit complete embryonic lethality during organogenesis associated with growth retardation, delayed neural tube closure, incomplete embryo turning, pericardial effusion, disorganized yolk sac vascular plexus and head mesenchyme hypocellularity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm2 G A 15: 89,323,285 probably benign Het
Ambra1 T A 2: 91,770,926 D189E possibly damaging Het
Atg16l1 G A 1: 87,774,838 G274S probably damaging Het
Cdh7 C A 1: 110,060,988 probably benign Het
Chat T C 14: 32,449,023 Y173C probably damaging Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Ctnnd1 T C 2: 84,603,752 D874G probably damaging Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Depdc5 T C 5: 32,967,814 probably null Het
Eef1b2 G A 1: 63,178,506 G91R probably damaging Het
Fut10 G T 8: 31,235,705 V163F probably damaging Het
Klra6 A G 6: 130,023,700 V47A possibly damaging Het
Lgi2 T C 5: 52,538,121 K491E probably benign Het
Lrrc72 T A 12: 36,221,508 Q138L probably benign Het
Nxph2 T A 2: 23,399,962 F109I probably damaging Het
Oosp3 A G 19: 11,711,640 D84G probably benign Het
Pdzd3 A G 9: 44,249,636 L211P possibly damaging Het
Poc1b C T 10: 99,129,652 R106C probably benign Het
Ptk2 A G 15: 73,262,547 S568P probably damaging Het
Slc4a5 A G 6: 83,299,471 I1093V probably benign Het
Snx2 G A 18: 53,210,797 probably null Het
Washc5 G T 15: 59,337,276 T1033K probably damaging Het
Other mutations in Glmn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Glmn APN 5 107557327 missense probably damaging 1.00
IGL01092:Glmn APN 5 107578512 critical splice acceptor site probably null
IGL02503:Glmn APN 5 107562778 missense probably damaging 0.98
IGL02725:Glmn APN 5 107575289 missense possibly damaging 0.95
IGL03116:Glmn APN 5 107551083 missense probably damaging 1.00
mauna_kea UTSW 5 107593880 critical splice acceptor site probably null
pillow UTSW 5 107549075 missense probably benign 0.20
R0078:Glmn UTSW 5 107557970 missense probably benign 0.31
R0115:Glmn UTSW 5 107560934 missense probably benign 0.00
R0481:Glmn UTSW 5 107560934 missense probably benign 0.00
R1895:Glmn UTSW 5 107570244 missense probably benign 0.34
R1954:Glmn UTSW 5 107572377 missense probably damaging 1.00
R2090:Glmn UTSW 5 107561928 missense probably damaging 1.00
R2132:Glmn UTSW 5 107578455 missense probably damaging 0.98
R3962:Glmn UTSW 5 107561045 intron probably benign
R4296:Glmn UTSW 5 107558502 missense possibly damaging 0.52
R4591:Glmn UTSW 5 107561051 critical splice donor site probably null
R4679:Glmn UTSW 5 107561075 missense probably damaging 1.00
R4992:Glmn UTSW 5 107557301 missense probably damaging 1.00
R5140:Glmn UTSW 5 107570200 missense probably damaging 0.99
R5215:Glmn UTSW 5 107561886 missense probably benign 0.03
R6035:Glmn UTSW 5 107593880 critical splice acceptor site probably null
R6035:Glmn UTSW 5 107593880 critical splice acceptor site probably null
R6116:Glmn UTSW 5 107557340 missense probably damaging 1.00
R6671:Glmn UTSW 5 107549414 missense probably benign 0.37
R7748:Glmn UTSW 5 107562244 critical splice donor site probably null
R7789:Glmn UTSW 5 107549075 missense probably benign 0.20
R8407:Glmn UTSW 5 107570191 missense probably benign 0.19
Posted On2012-12-06