Incidental Mutation 'IGL01092:Glmn'
ID51087
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 #IGL01092
Quality Score
Status
Chromosome5
Chromosomal Location107548967-107597888 bp(-) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) A to T at 107578512 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000078021] [ENSMUST00000082121] [ENSMUST00000100949] [ENSMUST00000124140] [ENSMUST00000124546]
Predicted Effect probably damaging
Transcript: ENSMUST00000078021
AA Change: L74Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077168
Gene: ENSMUSG00000029276
AA Change: L74Q

DomainStartEndE-ValueType
Pfam:Kinetochor_Ybp2 1 563 5.6e-101 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000082121
AA Change: L74Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080766
Gene: ENSMUSG00000029276
AA Change: L74Q

DomainStartEndE-ValueType
Pfam:Kinetochor_Ybp2 1 563 3.5e-99 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100949
AA Change: L74Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098509
Gene: ENSMUSG00000029276
AA Change: L74Q

DomainStartEndE-ValueType
Pfam:Kinetochor_Ybp2 1 404 1.1e-63 PFAM
Pfam:Kinetochor_Ybp2 402 499 1.5e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124140
AA Change: L74Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123224
Gene: ENSMUSG00000029276
AA Change: L74Q

DomainStartEndE-ValueType
Pfam:Kinetochor_Ybp2 1 100 5.8e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000124546
AA Change: L74Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122129
Gene: ENSMUSG00000029276
AA Change: L74Q

DomainStartEndE-ValueType
Pfam:Kinetochor_Ybp2 1 95 6e-15 PFAM
Predicted Effect probably null
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: ENSMUST00000143113
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap33 T C 7: 30,529,946 R335G probably damaging Het
Atad2b C T 12: 5,017,987 S995L probably damaging Het
Atrn A T 2: 130,947,636 R340* probably null Het
Ccdc83 A T 7: 90,247,105 D85E probably benign Het
Chd2 A T 7: 73,441,686 H1602Q possibly damaging Het
Cog2 A G 8: 124,545,280 D511G probably damaging Het
Col4a4 G T 1: 82,466,545 P1334T unknown Het
Creb3l4 T C 3: 90,237,738 E369G probably damaging Het
Crnkl1 T C 2: 145,919,948 K563R probably benign Het
Dbi T C 1: 120,113,477 K131E probably benign Het
Edn1 A G 13: 42,303,671 D60G probably damaging Het
Erbin T C 13: 103,834,012 N1032S probably damaging Het
Ero1l T C 14: 45,303,586 D107G probably benign Het
Grxcr1 T C 5: 68,110,562 probably benign Het
Itih3 T A 14: 30,909,781 K593I probably damaging Het
Kmt2b T C 7: 30,580,507 Y1356C probably damaging Het
Lrp1b C T 2: 40,750,947 C3495Y probably damaging Het
Map3k13 A T 16: 21,928,016 T950S probably damaging Het
Me1 A T 9: 86,598,748 V348D probably damaging Het
Morc2a T C 11: 3,684,042 V718A probably benign Het
Myh7 T C 14: 54,971,632 E1883G possibly damaging Het
Olfr1338 T A 4: 118,753,762 I259F possibly damaging Het
Olfr913 T G 9: 38,594,905 I228R probably damaging Het
Pdcd6ip A G 9: 113,680,181 probably benign Het
Plcb3 T A 19: 6,955,322 E1025V probably benign Het
Ppp1r26 C T 2: 28,453,860 probably benign Het
Prkd1 T C 12: 50,383,515 probably benign Het
Rwdd4a C T 8: 47,544,112 T122M possibly damaging Het
Sdhb T G 4: 140,977,480 C251G probably damaging Het
Siglec1 A T 2: 131,079,217 I678N probably damaging Het
Snrnp70 T C 7: 45,377,377 D215G probably damaging Het
Ston1 A G 17: 88,644,443 E674G probably benign Het
Tbl3 T C 17: 24,701,905 probably benign Het
Tbl3 A T 17: 24,705,252 I177N probably damaging Het
Tnrc6c T C 11: 117,721,985 V483A probably damaging Het
Other mutations in Glmn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00861:Glmn APN 5 107570139 missense possibly damaging 0.79
IGL00925:Glmn APN 5 107557327 missense probably damaging 1.00
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 On2013-06-21