Incidental Mutation 'IGL02244:Agbl1'
ID 286114
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agbl1
Ensembl Gene ENSMUSG00000025754
Gene Name ATP/GTP binding protein-like 1
Synonyms Nna1-l1, Ccp4, EG244071
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02244
Quality Score
Status
Chromosome 7
Chromosomal Location 75879635-76774446 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76416120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 714 (S714P)
Ref Sequence ENSEMBL: ENSMUSP00000103066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107442] [ENSMUST00000156166]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000107442
AA Change: S714P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754
AA Change: S714P

DomainStartEndE-ValueType
low complexity region 48 64 N/A INTRINSIC
Pfam:Peptidase_M14 494 754 3.1e-27 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000156166
AA Change: S966P
SMART Domains Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: S966P

DomainStartEndE-ValueType
low complexity region 254 270 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal response to herpes simplex virus (HSV) and vaccinia virus (VACV) infection. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik G T 16: 90,853,085 (GRCm39) T17K probably benign Het
Araf A G X: 20,719,835 (GRCm39) probably benign Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Armc8 A T 9: 99,365,227 (GRCm39) D638E probably benign Het
Bpifb5 C T 2: 154,067,068 (GRCm39) T107I possibly damaging Het
Ces1e A C 8: 93,938,977 (GRCm39) probably null Het
Col4a3 C A 1: 82,647,492 (GRCm39) probably benign Het
Col4a5 A G X: 140,382,669 (GRCm39) probably benign Het
Crocc T C 4: 140,765,231 (GRCm39) H477R probably benign Het
Dgkd C A 1: 87,842,863 (GRCm39) N130K probably benign Het
Dock1 C T 7: 134,379,174 (GRCm39) Q634* probably null Het
Dzip3 C T 16: 48,801,351 (GRCm39) V58I probably benign Het
Fndc3a A G 14: 72,793,807 (GRCm39) probably benign Het
Glp2r C T 11: 67,612,817 (GRCm39) R379H probably damaging Het
Kctd12b T A X: 152,472,330 (GRCm39) M120L probably benign Het
Krt33b A G 11: 99,916,189 (GRCm39) V258A probably benign Het
Lpin1 T A 12: 16,591,770 (GRCm39) N819I probably damaging Het
Lurap1l T C 4: 80,871,866 (GRCm39) S120P probably damaging Het
Lysmd4 T C 7: 66,875,672 (GRCm39) S112P probably damaging Het
Myo1e A G 9: 70,274,971 (GRCm39) K708R probably benign Het
Nr3c1 T A 18: 39,554,610 (GRCm39) probably benign Het
Nup62cl G T X: 138,922,780 (GRCm39) N239K probably benign Het
Nwd1 A T 8: 73,434,210 (GRCm39) E1269V probably damaging Het
Or52e7 C T 7: 104,685,152 (GRCm39) T249M probably damaging Het
Pcdh9 A C 14: 93,564,204 (GRCm39) L1084R probably damaging Het
Plxnd1 A G 6: 115,955,218 (GRCm39) M543T probably benign Het
Prss53 T A 7: 127,487,964 (GRCm39) T173S possibly damaging Het
Reep2 C A 18: 34,973,807 (GRCm39) probably benign Het
Rp1 T C 1: 4,419,003 (GRCm39) D703G probably benign Het
Sbf2 T G 7: 110,159,502 (GRCm39) D36A probably damaging Het
Sh3kbp1 C T X: 158,586,724 (GRCm39) R99W probably damaging Het
Sis T A 3: 72,863,523 (GRCm39) R238S probably benign Het
Slc35e2 T A 4: 155,703,019 (GRCm39) V344D probably damaging Het
Specc1 G A 11: 62,019,194 (GRCm39) V678I probably benign Het
Supt6 T C 11: 78,123,623 (GRCm39) D49G possibly damaging Het
Tecpr1 G A 5: 144,146,821 (GRCm39) A515V probably benign Het
Tlr4 G A 4: 66,752,298 (GRCm39) probably null Het
Tmco5b A G 2: 113,118,619 (GRCm39) E114G probably damaging Het
Tspear A T 10: 77,688,690 (GRCm39) probably benign Het
Txlnb T A 10: 17,719,116 (GRCm39) V649E probably benign Het
Utp20 A G 10: 88,651,818 (GRCm39) probably benign Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Vmn2r70 T A 7: 85,214,211 (GRCm39) T314S probably benign Het
Zfp938 G T 10: 82,061,906 (GRCm39) T238K possibly damaging Het
Other mutations in Agbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01567:Agbl1 APN 7 76,071,628 (GRCm39) missense probably benign 0.01
IGL01650:Agbl1 APN 7 76,070,067 (GRCm39) missense probably damaging 1.00
IGL03088:Agbl1 APN 7 76,369,890 (GRCm39) missense probably benign 0.12
IGL03143:Agbl1 APN 7 76,069,793 (GRCm39) nonsense probably null
IGL03306:Agbl1 APN 7 76,239,252 (GRCm39) missense probably damaging 1.00
R0001:Agbl1 UTSW 7 76,069,611 (GRCm39) missense probably damaging 0.98
R0045:Agbl1 UTSW 7 76,348,588 (GRCm39) critical splice donor site probably null
R0045:Agbl1 UTSW 7 76,348,588 (GRCm39) critical splice donor site probably null
R0541:Agbl1 UTSW 7 76,058,993 (GRCm39) missense probably benign 0.22
R1889:Agbl1 UTSW 7 76,239,129 (GRCm39) missense probably damaging 1.00
R2089:Agbl1 UTSW 7 76,239,248 (GRCm39) missense probably damaging 0.98
R2091:Agbl1 UTSW 7 76,239,248 (GRCm39) missense probably damaging 0.98
R2091:Agbl1 UTSW 7 76,239,248 (GRCm39) missense probably damaging 0.98
R2127:Agbl1 UTSW 7 76,069,628 (GRCm39) missense possibly damaging 0.64
R2148:Agbl1 UTSW 7 76,064,465 (GRCm39) splice site probably null
R2229:Agbl1 UTSW 7 76,083,126 (GRCm39) missense probably benign 0.43
R2243:Agbl1 UTSW 7 76,068,470 (GRCm39) missense possibly damaging 0.93
R2255:Agbl1 UTSW 7 76,071,932 (GRCm39) missense probably damaging 1.00
R2411:Agbl1 UTSW 7 76,369,898 (GRCm39) missense probably damaging 1.00
R2426:Agbl1 UTSW 7 76,071,650 (GRCm39) missense probably damaging 1.00
R2508:Agbl1 UTSW 7 76,239,298 (GRCm39) critical splice donor site probably null
R2910:Agbl1 UTSW 7 76,069,586 (GRCm39) missense probably benign 0.13
R2919:Agbl1 UTSW 7 76,064,406 (GRCm39) missense probably damaging 1.00
R3056:Agbl1 UTSW 7 76,416,232 (GRCm39) missense possibly damaging 0.60
R3153:Agbl1 UTSW 7 76,369,944 (GRCm39) missense probably damaging 1.00
R3770:Agbl1 UTSW 7 76,075,677 (GRCm39) critical splice donor site probably null
R3825:Agbl1 UTSW 7 76,069,715 (GRCm39) missense probably damaging 0.99
R4632:Agbl1 UTSW 7 76,063,433 (GRCm39) missense probably benign 0.00
R4857:Agbl1 UTSW 7 76,069,583 (GRCm39) missense probably benign 0.03
R4943:Agbl1 UTSW 7 76,069,764 (GRCm39) missense probably benign 0.01
R5055:Agbl1 UTSW 7 76,063,325 (GRCm39) missense probably damaging 1.00
R5071:Agbl1 UTSW 7 76,071,665 (GRCm39) missense probably damaging 1.00
R5072:Agbl1 UTSW 7 76,071,665 (GRCm39) missense probably damaging 1.00
R5074:Agbl1 UTSW 7 76,071,665 (GRCm39) missense probably damaging 1.00
R5095:Agbl1 UTSW 7 76,369,881 (GRCm39) missense probably damaging 0.96
R5133:Agbl1 UTSW 7 76,071,904 (GRCm39) missense probably benign 0.21
R5576:Agbl1 UTSW 7 75,984,985 (GRCm39) missense probably benign 0.03
R5665:Agbl1 UTSW 7 76,239,251 (GRCm39) missense probably damaging 1.00
R5849:Agbl1 UTSW 7 75,974,846 (GRCm39) missense probably benign 0.35
R5924:Agbl1 UTSW 7 76,058,982 (GRCm39) missense probably benign 0.12
R6044:Agbl1 UTSW 7 75,967,868 (GRCm39) missense possibly damaging 0.56
R6117:Agbl1 UTSW 7 76,348,534 (GRCm39) missense probably damaging 1.00
R6144:Agbl1 UTSW 7 76,069,832 (GRCm39) missense probably benign 0.02
R6368:Agbl1 UTSW 7 76,069,578 (GRCm39) missense probably benign 0.25
R6806:Agbl1 UTSW 7 76,075,669 (GRCm39) missense probably damaging 1.00
R7455:Agbl1 UTSW 7 76,074,503 (GRCm39) missense unknown
R7459:Agbl1 UTSW 7 76,069,814 (GRCm39) missense not run
R7485:Agbl1 UTSW 7 76,239,241 (GRCm39) missense unknown
R7516:Agbl1 UTSW 7 76,075,669 (GRCm39) missense probably damaging 1.00
R7539:Agbl1 UTSW 7 76,075,677 (GRCm39) critical splice donor site probably null
R7561:Agbl1 UTSW 7 76,348,509 (GRCm39) missense unknown
R7630:Agbl1 UTSW 7 76,535,904 (GRCm39) missense unknown
R7655:Agbl1 UTSW 7 76,059,080 (GRCm39) missense
R7656:Agbl1 UTSW 7 76,059,080 (GRCm39) missense
R7658:Agbl1 UTSW 7 76,416,117 (GRCm39) missense unknown
R7681:Agbl1 UTSW 7 76,094,649 (GRCm39) missense unknown
R7694:Agbl1 UTSW 7 76,348,513 (GRCm39) missense unknown
R7773:Agbl1 UTSW 7 76,348,585 (GRCm39) missense unknown
R7981:Agbl1 UTSW 7 76,094,588 (GRCm39) missense unknown
R8208:Agbl1 UTSW 7 76,369,916 (GRCm39) missense unknown
R8317:Agbl1 UTSW 7 76,071,929 (GRCm39) missense unknown
R8406:Agbl1 UTSW 7 76,068,415 (GRCm39) missense
R8432:Agbl1 UTSW 7 76,774,434 (GRCm39) missense unknown
R8704:Agbl1 UTSW 7 76,239,302 (GRCm39) splice site probably benign
R8830:Agbl1 UTSW 7 75,985,059 (GRCm39) missense
R8985:Agbl1 UTSW 7 75,969,904 (GRCm39) missense
R9113:Agbl1 UTSW 7 76,239,225 (GRCm39) missense unknown
R9170:Agbl1 UTSW 7 75,985,069 (GRCm39) missense
R9229:Agbl1 UTSW 7 76,774,270 (GRCm39) missense unknown
R9255:Agbl1 UTSW 7 76,416,150 (GRCm39) missense unknown
R9391:Agbl1 UTSW 7 76,071,602 (GRCm39) missense unknown
R9646:Agbl1 UTSW 7 76,075,648 (GRCm39) missense unknown
Z1088:Agbl1 UTSW 7 76,069,652 (GRCm39) missense probably benign 0.00
Z1176:Agbl1 UTSW 7 76,068,433 (GRCm39) missense
Z1177:Agbl1 UTSW 7 76,369,954 (GRCm39) missense unknown
Posted On 2015-04-16