Incidental Mutation 'R7789:Glmn'
ID 599723
Institutional Source Beutler Lab
Gene Symbol Glmn
Ensembl Gene ENSMUSG00000029276
Gene Name glomulin, FKBP associated protein
Synonyms 9330160J16Rik, Fap68, Fap48
MMRRC Submission 045845-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7789 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 107696833-107745754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 107696941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 592 (N592T)
Ref Sequence ENSEMBL: ENSMUSP00000077168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058921] [ENSMUST00000078021] [ENSMUST00000082121] [ENSMUST00000100949] [ENSMUST00000124546] [ENSMUST00000159902] [ENSMUST00000160160]
AlphaFold Q8BZM1
Predicted Effect probably benign
Transcript: ENSMUST00000058921
SMART Domains Protein: ENSMUSP00000058373
Gene: ENSMUSG00000089798

Pfam:DUF4580 12 173 1.4e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000078021
AA Change: N592T

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000077168
Gene: ENSMUSG00000029276
AA Change: N592T

Pfam:Kinetochor_Ybp2 1 563 5.6e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000082121
AA Change: N592T

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000080766
Gene: ENSMUSG00000029276
AA Change: N592T

Pfam:Kinetochor_Ybp2 1 563 3.5e-99 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100949
AA Change: N528T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098509
Gene: ENSMUSG00000029276
AA Change: N528T

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

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

low complexity region 116 127 N/A INTRINSIC
low complexity region 364 375 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000159902
SMART Domains Protein: ENSMUSP00000124574
Gene: ENSMUSG00000089798

Pfam:DUF4580 10 177 1.4e-80 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000160160
SMART Domains Protein: ENSMUSP00000124398
Gene: ENSMUSG00000106631

Pfam:DUF4580 10 140 1.5e-61 PFAM
Meta Mutation Damage Score 0.0641 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 99% (77/78)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G A 16: 4,682,175 (GRCm39) E163K probably benign Het
Adam34 T A 8: 44,105,488 (GRCm39) R52S probably benign Het
Adcy8 A T 15: 64,743,623 (GRCm39) C328* probably null Het
Ankrd26 G T 6: 118,504,760 (GRCm39) S716R possibly damaging Het
Ankrd26 G T 6: 118,504,759 (GRCm39) H717N probably damaging Het
Ankrd40 C A 11: 94,225,535 (GRCm39) P189T probably damaging Het
Anln A G 9: 22,263,333 (GRCm39) S113P Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Asxl1 C T 2: 153,241,943 (GRCm39) T832I probably benign Het
Bicd2 C T 13: 49,533,135 (GRCm39) R574C probably damaging Het
Boll T C 1: 55,399,826 (GRCm39) probably null Het
Casr A G 16: 36,315,653 (GRCm39) F806L probably damaging Het
Casz1 C A 4: 149,013,863 (GRCm39) N142K probably benign Het
Cbl C T 9: 44,074,764 (GRCm39) D433N probably damaging Het
Ceacam14 T A 7: 17,548,096 (GRCm39) V62D probably damaging Het
Chst10 T C 1: 38,923,532 (GRCm39) N18S probably benign Het
Cyp2j6 C T 4: 96,433,953 (GRCm39) R119H probably benign Het
Cyp4a14 C G 4: 115,352,107 (GRCm39) V102L probably benign Het
Dnajb3 A T 1: 88,133,399 (GRCm39) M1K probably null Het
Dnajc6 A T 4: 101,475,729 (GRCm39) K534M possibly damaging Het
Dnase2a T C 8: 85,635,505 (GRCm39) probably null Het
Dock10 A G 1: 80,536,930 (GRCm39) I985T possibly damaging Het
Emsy G T 7: 98,270,696 (GRCm39) P436Q probably damaging Het
Enpp1 A T 10: 24,529,981 (GRCm39) probably null Het
Erc1 T A 6: 119,750,670 (GRCm39) R353* probably null Het
Fbn2 T A 18: 58,172,385 (GRCm39) D2140V probably benign Het
Fgfr1 T A 8: 26,052,329 (GRCm39) Y218* probably null Het
Fhod1 C T 8: 106,056,740 (GRCm39) R1045H probably damaging Het
Focad G T 4: 88,147,643 (GRCm39) L427F unknown Het
Gbf1 T A 19: 46,242,441 (GRCm39) L144M probably damaging Het
Golgb1 C G 16: 36,695,761 (GRCm39) P87A unknown Het
H2bw2 G A X: 135,828,471 (GRCm39) R120K unknown Het
Insyn2b T A 11: 34,352,537 (GRCm39) M193K probably benign Het
Itga9 T G 9: 118,487,564 (GRCm39) F216V possibly damaging Het
Klhl18 T C 9: 110,268,076 (GRCm39) D149G unknown Het
Lcat C T 8: 106,668,857 (GRCm39) V114M probably benign Het
Lrrc8c C A 5: 105,755,066 (GRCm39) N280K probably damaging Het
Mettl8 T C 2: 70,796,806 (GRCm39) Y283C probably damaging Het
Mgat4a A T 1: 37,529,360 (GRCm39) I173K probably damaging Het
Mmp1a T C 9: 7,475,266 (GRCm39) V345A possibly damaging Het
Mok T A 12: 110,778,261 (GRCm39) H215L probably damaging Het
Mphosph9 C G 5: 124,453,650 (GRCm39) E221Q probably damaging Het
Muc4 C G 16: 32,575,221 (GRCm39) Q1269E probably benign Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Myom1 A G 17: 71,424,431 (GRCm39) T1525A probably benign Het
Nap1l1 C T 10: 111,326,317 (GRCm39) S143L probably benign Het
Or1af1 C T 2: 37,109,672 (GRCm39) T57I probably benign Het
Or2j6 A T 7: 139,980,610 (GRCm39) Y116* probably null Het
Or52d1 T A 7: 103,756,195 (GRCm39) S236R probably damaging Het
Or7g29 G T 9: 19,286,361 (GRCm39) T272K probably benign Het
Plbd2 T C 5: 120,623,819 (GRCm39) S568G probably damaging Het
Plxna4 T A 6: 32,183,168 (GRCm39) probably null Het
Plxnc1 T A 10: 94,630,339 (GRCm39) E1520V probably damaging Het
Ppil3 G A 1: 58,473,538 (GRCm39) T104I possibly damaging Het
Ptprm A T 17: 67,402,534 (GRCm39) V118E probably damaging Het
Rimbp2 T C 5: 128,851,399 (GRCm39) D849G probably damaging Het
Rnf213 T C 11: 119,361,045 (GRCm39) probably null Het
Sema3f T A 9: 107,582,631 (GRCm39) K37N probably benign Het
Sh3glb1 G T 3: 144,397,892 (GRCm39) probably null Het
Sh3rf3 A G 10: 58,922,637 (GRCm39) D571G probably benign Het
Sipa1l3 T C 7: 29,077,150 (GRCm39) Y874C probably damaging Het
Smchd1 G A 17: 71,782,296 (GRCm39) probably benign Het
Snrnp70 A T 7: 45,026,045 (GRCm39) Y441* probably null Het
Ssrp1 C T 2: 84,871,525 (GRCm39) R316W probably damaging Het
Syt10 A T 15: 89,711,101 (GRCm39) V144E probably damaging Het
Tdrd12 A G 7: 35,188,117 (GRCm39) L562P Het
Trim68 T C 7: 102,333,676 (GRCm39) D2G possibly damaging Het
Trub2 T A 2: 29,667,920 (GRCm39) H240L probably damaging Het
Tssc4 A G 7: 142,623,515 (GRCm39) probably null Het
Usp7 T A 16: 8,516,675 (GRCm39) Q539L probably benign Het
Vmn2r17 T A 5: 109,600,831 (GRCm39) C710S possibly damaging Het
Vmn2r99 G T 17: 19,614,079 (GRCm39) V600F possibly damaging Het
Vps13d C T 4: 144,826,635 (GRCm39) V2879M Het
Vrtn T A 12: 84,697,080 (GRCm39) M610K probably benign Het
Xpo4 T C 14: 57,850,806 (GRCm39) E366G probably benign Het
Zyg11a G A 4: 108,040,845 (GRCm39) P703S probably damaging 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
R6116:Glmn UTSW 5 107,705,206 (GRCm39) missense probably damaging 1.00
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
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

Sequencing Primer
Posted On 2019-11-26