Incidental Mutation 'R6116:Glmn'
ID 485111
Institutional Source Beutler Lab
Gene Symbol Glmn
Ensembl Gene ENSMUSG00000029276
Gene Name glomulin, FKBP associated protein
Synonyms 9330160J16Rik, Fap68, Fap48
MMRRC Submission 044265-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6116 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 107696833-107745754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107705206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 470 (M470K)
Ref Sequence ENSEMBL: ENSMUSP00000080766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078021] [ENSMUST00000082121] [ENSMUST00000100949] [ENSMUST00000124546]
AlphaFold Q8BZM1
Predicted Effect probably damaging
Transcript: ENSMUST00000078021
AA Change: M470K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077168
Gene: ENSMUSG00000029276
AA Change: M470K

DomainStartEndE-ValueType
Pfam:Kinetochor_Ybp2 1 563 5.6e-101 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000082121
AA Change: M470K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080766
Gene: ENSMUSG00000029276
AA Change: M470K

DomainStartEndE-ValueType
Pfam:Kinetochor_Ybp2 1 563 3.5e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100949
AA Change: M406K

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000098509
Gene: ENSMUSG00000029276
AA Change: M406K

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,990,327 (GRCm39) probably benign Het
Apc A T 18: 34,449,508 (GRCm39) I2101F probably damaging Het
Bpifa3 G A 2: 153,975,633 (GRCm39) V68I possibly damaging Het
Csmd1 T A 8: 16,261,864 (GRCm39) I878F probably damaging Het
Cyp2c67 A T 19: 39,605,879 (GRCm39) M339K probably damaging Het
Dock3 A G 9: 106,809,161 (GRCm39) Y1321H probably damaging Het
Dsc1 G T 18: 20,230,356 (GRCm39) D316E probably benign Het
Eno3 C T 11: 70,552,401 (GRCm39) T351M possibly damaging Het
Erbb2 T A 11: 98,318,225 (GRCm39) F487Y probably damaging Het
Exosc10 T C 4: 148,657,810 (GRCm39) L652P probably benign Het
Gm15446 T A 5: 110,090,902 (GRCm39) C385S probably damaging Het
Hspa8 A G 9: 40,716,271 (GRCm39) E581G probably damaging Het
Igfn1 T C 1: 135,898,205 (GRCm39) D787G probably benign Het
Igkv12-44 T C 6: 69,791,838 (GRCm39) T42A possibly damaging Het
Itsn2 T C 12: 4,679,939 (GRCm39) probably benign Het
Jade2 T C 11: 51,726,460 (GRCm39) E84G probably damaging Het
Lpar3 T A 3: 145,946,352 (GRCm39) M10K possibly damaging Het
Lpin2 A G 17: 71,550,925 (GRCm39) D695G probably damaging Het
Mosmo T A 7: 120,325,418 (GRCm39) L7H probably damaging Het
Ms4a8a C T 19: 11,058,436 (GRCm39) A9T unknown Het
Myb T C 10: 21,030,653 (GRCm39) D48G probably damaging Het
Neurod6 T C 6: 55,655,776 (GRCm39) Y287C probably damaging Het
Olr1 T A 6: 129,476,947 (GRCm39) D106V probably damaging Het
Or11a4 A G 17: 37,536,459 (GRCm39) T148A probably benign Het
Or8b4 A G 9: 37,829,955 (GRCm39) M1V probably null Het
Peg10 C CCCATCAGGA 6: 4,756,351 (GRCm39) probably benign Het
Plch1 C T 3: 63,609,444 (GRCm39) R912H probably damaging Het
Ppfia3 T C 7: 45,004,127 (GRCm39) Y505C probably damaging Het
Sdk2 T A 11: 113,745,190 (GRCm39) I702F probably damaging Het
Slc16a11 T C 11: 70,106,262 (GRCm39) F119L probably benign Het
Slc2a10 A C 2: 165,359,623 (GRCm39) T496P probably damaging Het
Slc7a2 T C 8: 41,353,206 (GRCm39) Y181H probably damaging Het
Spata31e5 G A 1: 28,817,780 (GRCm39) A84V probably benign Het
Stab2 G T 10: 86,743,054 (GRCm39) P1185Q probably damaging Het
Tcf7l2 T A 19: 55,907,446 (GRCm39) S335R probably damaging Het
Ttc41 G A 10: 86,594,952 (GRCm39) probably null Het
Vmn2r32 A T 7: 7,467,092 (GRCm39) I812N probably damaging Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Other mutations in Glmn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00861:Glmn APN 5 107,718,005 (GRCm39) missense possibly damaging 0.79
IGL00925:Glmn APN 5 107,705,193 (GRCm39) missense probably damaging 1.00
IGL01092:Glmn APN 5 107,726,378 (GRCm39) critical splice acceptor site probably null
IGL02503:Glmn APN 5 107,710,644 (GRCm39) missense probably damaging 0.98
IGL02725:Glmn APN 5 107,723,155 (GRCm39) missense possibly damaging 0.95
IGL03116:Glmn APN 5 107,698,949 (GRCm39) missense probably damaging 1.00
mauna_kea UTSW 5 107,741,746 (GRCm39) critical splice acceptor site probably null
pillow UTSW 5 107,696,941 (GRCm39) missense probably benign 0.20
R0078:Glmn UTSW 5 107,705,836 (GRCm39) missense probably benign 0.31
R0115:Glmn UTSW 5 107,708,800 (GRCm39) missense probably benign 0.00
R0481:Glmn UTSW 5 107,708,800 (GRCm39) missense probably benign 0.00
R1895:Glmn UTSW 5 107,718,110 (GRCm39) missense probably benign 0.34
R1954:Glmn UTSW 5 107,720,243 (GRCm39) missense probably damaging 1.00
R2090:Glmn UTSW 5 107,709,794 (GRCm39) missense probably damaging 1.00
R2132:Glmn UTSW 5 107,726,321 (GRCm39) missense probably damaging 0.98
R3962:Glmn UTSW 5 107,708,911 (GRCm39) intron probably benign
R4296:Glmn UTSW 5 107,706,368 (GRCm39) missense possibly damaging 0.52
R4591:Glmn UTSW 5 107,708,917 (GRCm39) critical splice donor site probably null
R4679:Glmn UTSW 5 107,708,941 (GRCm39) missense probably damaging 1.00
R4992:Glmn UTSW 5 107,705,167 (GRCm39) missense probably damaging 1.00
R5140:Glmn UTSW 5 107,718,066 (GRCm39) missense probably damaging 0.99
R5215:Glmn UTSW 5 107,709,752 (GRCm39) missense probably benign 0.03
R6035:Glmn UTSW 5 107,741,746 (GRCm39) critical splice acceptor site probably null
R6035:Glmn UTSW 5 107,741,746 (GRCm39) critical splice acceptor site probably null
R6671:Glmn UTSW 5 107,697,280 (GRCm39) missense probably benign 0.37
R7748:Glmn UTSW 5 107,710,110 (GRCm39) critical splice donor site probably null
R7789:Glmn UTSW 5 107,696,941 (GRCm39) missense probably benign 0.20
R8407:Glmn UTSW 5 107,718,057 (GRCm39) missense probably benign 0.19
R8725:Glmn UTSW 5 107,718,152 (GRCm39) missense probably benign 0.01
R8727:Glmn UTSW 5 107,718,152 (GRCm39) missense probably benign 0.01
R9535:Glmn UTSW 5 107,706,368 (GRCm39) missense possibly damaging 0.52
R9612:Glmn UTSW 5 107,741,731 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTACAAAAGAGCAGCTGC -3'
(R):5'- ACAGTGGCAAGCAGCTGTTG -3'

Sequencing Primer
(F):5'- TGGGAACTGGCACACGTC -3'
(R):5'- CAGCTGTTGTCAGTCCACAGATG -3'
Posted On 2017-08-16