Incidental Mutation 'R2426:Agbl1'
ID 250216
Institutional Source Beutler Lab
Gene Symbol Agbl1
Ensembl Gene ENSMUSG00000025754
Gene Name ATP/GTP binding protein-like 1
Synonyms Nna1-l1, Ccp4, EG244071
MMRRC Submission 040388-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2426 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 75879635-76774446 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76071650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 324 (V324A)
Ref Sequence ENSEMBL: ENSMUSP00000103066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026854] [ENSMUST00000107442] [ENSMUST00000156166]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026854
AA Change: V324A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026854
Gene: ENSMUSG00000025754
AA Change: V324A

DomainStartEndE-ValueType
low complexity region 48 64 N/A INTRINSIC
Pfam:Peptidase_M14 493 631 4.4e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107442
AA Change: V324A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103066
Gene: ENSMUSG00000025754
AA Change: V324A

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: V576A
SMART Domains Protein: ENSMUSP00000119721
Gene: ENSMUSG00000025754
AA Change: V576A

DomainStartEndE-ValueType
low complexity region 254 270 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166190
AA Change: V562A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128342
Gene: ENSMUSG00000025754
AA Change: V562A

DomainStartEndE-ValueType
low complexity region 286 302 N/A INTRINSIC
Pfam:Peptidase_M14 737 871 7.4e-14 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G T 7: 119,882,446 (GRCm39) V1203L probably benign Het
Adamtsl1 G A 4: 86,075,025 (GRCm39) V131I probably benign Het
Adgra3 A T 5: 50,166,791 (GRCm39) M187K possibly damaging Het
Ahnak A T 19: 8,980,215 (GRCm39) I500F possibly damaging Het
Aldh1l1 A G 6: 90,575,266 (GRCm39) D851G probably damaging Het
Amot T C X: 144,259,287 (GRCm39) K460E probably damaging Het
Arhgef3 G T 14: 27,106,138 (GRCm39) E161* probably null Het
Atg9b A T 5: 24,591,992 (GRCm39) I669N probably damaging Het
Ccdc83 A G 7: 89,877,639 (GRCm39) Y268H probably damaging Het
Cep170 A G 1: 176,602,201 (GRCm39) S302P probably benign Het
Cyp4a31 T A 4: 115,428,213 (GRCm39) M303K probably damaging Het
Cyp4v3 T A 8: 45,770,813 (GRCm39) Y231F probably benign Het
Defa39 T G 8: 22,192,653 (GRCm39) K114N possibly damaging Het
Dock3 A T 9: 106,791,740 (GRCm39) L1411Q possibly damaging Het
Dsg1a T A 18: 20,469,861 (GRCm39) I629N probably damaging Het
Dst A T 1: 34,231,893 (GRCm39) H2837L probably benign Het
Fam114a2 G A 11: 57,383,906 (GRCm39) P343L probably benign Het
Fbrs A G 7: 127,086,511 (GRCm39) probably null Het
Fbxl13 A C 5: 21,727,135 (GRCm39) D620E probably damaging Het
Frmd4a T A 2: 4,534,673 (GRCm39) S164T probably damaging Het
Gdi2 T G 13: 3,612,034 (GRCm39) S330A probably benign Het
Gm5878 A T 6: 85,095,613 (GRCm39) M70K probably benign Het
H2-Q6 G T 17: 35,643,913 (GRCm39) A21S probably benign Het
Hfm1 A T 5: 106,995,519 (GRCm39) probably null Het
Hnmt C T 2: 23,909,167 (GRCm39) C82Y probably benign Het
Il1rl1 C A 1: 40,485,779 (GRCm39) A310D probably damaging Het
Ints1 A T 5: 139,757,569 (GRCm39) probably null Het
Kcne4 C A 1: 78,795,688 (GRCm39) A112E possibly damaging Het
Krt32 T C 11: 99,977,192 (GRCm39) K236R possibly damaging Het
Maml2 T C 9: 13,617,794 (GRCm39) L380P probably damaging Het
Meis1 A T 11: 18,938,356 (GRCm39) D218E possibly damaging Het
Mon1b G A 8: 114,365,752 (GRCm39) G360D probably damaging Het
Mpp4 A G 1: 59,169,216 (GRCm39) S383P probably damaging Het
Neb A G 2: 52,059,065 (GRCm39) probably null Het
Nlgn2 A T 11: 69,717,912 (GRCm39) I431N probably damaging Het
Nr2e1 A G 10: 42,439,481 (GRCm39) L134P probably damaging Het
Opcml G A 9: 28,814,663 (GRCm39) probably null Het
Or2t29 A T 11: 58,433,920 (GRCm39) Y127* probably null Het
Or6c207 T C 10: 129,105,135 (GRCm39) Q19R probably benign Het
Or7c19 T C 8: 85,957,693 (GRCm39) S190P probably damaging Het
Pate2 A T 9: 35,581,776 (GRCm39) probably null Het
Pgr G A 9: 8,900,718 (GRCm39) V84M probably damaging Het
Pigu A T 2: 155,141,002 (GRCm39) V296D probably damaging Het
Plcb2 G A 2: 118,546,130 (GRCm39) T555M probably damaging Het
Pld5 T G 1: 175,791,542 (GRCm39) D426A probably benign Het
Prdm2 G T 4: 142,838,320 (GRCm39) C1679* probably null Het
Psme2b A T 11: 48,836,890 (GRCm39) V19D probably benign Het
Ptpn9 A T 9: 56,934,712 (GRCm39) N159Y possibly damaging Het
Sanbr T A 11: 23,526,801 (GRCm39) R190W probably damaging Het
Sdc3 A T 4: 130,546,114 (GRCm39) T64S unknown Het
Serping1 T G 2: 84,600,563 (GRCm39) S260R probably damaging Het
Slc20a1 T C 2: 129,050,150 (GRCm39) F436S probably benign Het
Sntb1 A T 15: 55,769,575 (GRCm39) I138N probably damaging Het
Sorcs3 A T 19: 48,711,364 (GRCm39) Y643F probably damaging Het
Spink1 G T 18: 43,868,287 (GRCm39) S23* probably null Het
Stag1 T C 9: 100,727,169 (GRCm39) probably null Het
Tnfaip8l1 G A 17: 56,479,030 (GRCm39) V107I probably benign Het
Tnik A G 3: 28,700,830 (GRCm39) S907G probably damaging Het
Ttf1 T A 2: 28,957,197 (GRCm39) M489K probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp54 G A 14: 20,615,008 (GRCm39) A811V probably benign Het
Xirp2 A G 2: 67,344,815 (GRCm39) N2352S probably benign Het
Zan T C 5: 137,387,254 (GRCm39) Y4933C unknown Het
Zbtb8a A G 4: 129,254,012 (GRCm39) S161P probably benign Het
Zkscan5 A T 5: 145,157,750 (GRCm39) I751L probably benign Het
Zscan4d A G 7: 10,899,022 (GRCm39) F85S probably damaging Het
Zzef1 A G 11: 72,806,091 (GRCm39) M2647V probably benign 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
IGL02244:Agbl1 APN 7 76,416,120 (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
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
Predicted Primers PCR Primer
(F):5'- AACCTAAGATGGAGGCACTGTG -3'
(R):5'- TGGAAATGCTGCCTTGCAAAG -3'

Sequencing Primer
(F):5'- ACTGTGAAGTGCCTATCTTCTG -3'
(R):5'- CTTGCAAAGGCCTACAAGAAAAG -3'
Posted On 2014-11-12